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Gene ENSMUSG00000006464 (Bbs1)
Chromosomal location
Chr 19: 4886898 - 4906616 (-)
Description
Bardet-Biedl syndrome 1 (human) Gene [Source:MGI Symbol;Acc:MGI:1277215]
RefSeq_dna
NM_001033128 
RefSeq_peptide
NP_001028300.1 
UniGene
Mm.23636 
MGI
MGI:1277215 
Uniprot/SPTREMBL
Q3TQ82 Q3TTI7 Q3V3N7 
Human Ortholog
ENSG00000174483 (BBS1)
Omim 209900 - BARDET-BIEDL SYNDROME  
UniTrap UNI32586
Vector Insertion
Chr 19: 4903013 - 4903193
Public Clones IST14874A9 (tigm)
Private Clones not available
Severity of mutation (?) Insertion after 27% of polypeptide chain
Proposed experimental design for vector insertion validation (?)

UniTrap UNI31768
Vector Insertion
Chr 19: 4899199 - 4900623
Public Clones IST14886E6 (tigm) IST10352H10 (tigm) IST12359F12 (tigm) IST11014D12 (tigm)
Private Clones not available
Severity of mutation (?) Insertion after 41% of polypeptide chain
Proposed experimental design for vector insertion validation (?)

UniTrap UNI30563
Vector Insertion
Chr 19: 4897573 - 4899307
Public Clones IST12315G6 (tigm) IST12211D2HMR1 (tigm) IST14260H6 (tigm) IST12359F12 (tigm)
IST14879C12 (tigm)
Private Clones not available
Severity of mutation (?) Insertion after 47% of polypeptide chain
Proposed experimental design for vector insertion validation (?)

UniTrap UNI31908
Vector Insertion
Chr 19: 4897279 - 4897695
Public Clones IST14619D10 (tigm) IST12016E2 (tigm) IST13791B4 (tigm) IST10536G9 (tigm)
IST11997B3 (tigm) IST13957A4 (tigm)
Private Clones not available
Severity of mutation (?) Insertion after 54% of polypeptide chain
Proposed experimental design for vector insertion validation (?)

UniTrap UNI16140
Vector Insertion
Chr 19: 4895032 - 4897279
Public Clones (cmhd) IST12414E5 (tigm) IST13000E12 (tigm) IST14885E7 (tigm) IST14477H6 (tigm)
IST13097F3 (tigm) IST10962F1 (tigm)
Private Clones OST466095 (lexicon) OST453883 (lexicon) OST403903 (lexicon) OST392935 (lexicon)
OST340830 (lexicon) OST319807 (lexicon) OST310209 (lexicon) OST233267 (lexicon)
OST204701 (lexicon) OST182481 (lexicon)
Severity of mutation (?) Insertion after 63% of polypeptide chain
Proposed experimental design for vector insertion validation (?)

UniTrap UNI35369
Vector Insertion
Chr 19: 4894260 - 4895032
Public Clones (ggtc) IST14904G4 (tigm)
Private Clones not available
Severity of mutation (?) Insertion after 67% of polypeptide chain
Proposed experimental design for vector insertion validation (?)

UniTrap UNI14900
Vector Insertion
Chr 19: 4892887 - 4894420
Public Clones PST3978-NL (escells) PST1454-1 (escells) PST3978-NR (escells) PST7235-NR (escells)
Private Clones OST106878 (lexicon)
Severity of mutation (?) Insertion after 76% of polypeptide chain
Proposed experimental design for vector insertion validation (?)

UniTrap UNI22097
Vector Insertion
Chr 19: 4891077 - 4891652
Public Clones not available
Private Clones OST308720 (lexicon)
Severity of mutation (?) Insertion after 91% of polypeptide chain
Proposed experimental design for vector insertion validation (?)

UniTrap UNI23026
Vector Insertion
Chr 19: 4890759 - 4890989
Public Clones not available
Private Clones OST278606 (lexicon)
Severity of mutation (?) Insertion after 95% of polypeptide chain
Proposed experimental design for vector insertion validation (?)

Show all transcripts and translations:
Transcript ENSMUST00000053506
Sequence
CGACGCCTGGGAAAATGGCTGCGGCGTCTTCATCGGATTCTGACAGCGGGCGAGCTGAGAG CAACGAAGCCAATTCTAAATGGCTGGACGCACACTACG

ACCCCATGGCCAACATCCACACCTTCTCCTCCTGCCTGT CACTGGCAGATTTGCATGGCGATGGGGAGTACAAG CTGGTGGTGGGAGACCTTGGCCCA

GGTGGGCAGCAGCCCCGCCTGAAGGTGCTCAAAGGACCCACAGTGCTGACGGAGAGCCCACTGCCTGCCCTGCCAGCCTCGGCTGCCACCTTCCTCATGG

ACCAACACGAGCCCAGGACACCTGCCCTGGCACTCGCCTCAGGGCCTTGTGTCTATGTTTATAAGAACCTTAGACCCTACTTCAAGTTCAGCCTGCCCCA

GTTACCTCCAAACCCTTTGGAACAGGACGTTTGGAACCAAGCCAAAGAG - UNI32586 - GACCAGATTGACCCCTTAACCCTGAAGGAGATGCTGG

AGGACATCAG - UNI32586 - GGAAAAGGCAGACGTGCCTTTGTCTGTGCAGTCACTCAG - UNI32586 - GTTTCTGCAGCTGGAGCTGAGTG

AAATGGAGGCGTTTGTGAACCAGCACAAGTCCAAGGTTATCAAGCGCCAG - UNI31768 - ACAGTCATCACCACCATGACCACCCTGAAGAAGAAC

CTGGCAGATGAGGACGCAGCGTCCTGTCTGGTGCTAGGCACTGAGAGCAAGGAACTCCTAGTGCTGGACCCTGAGGCCTTCACCATTTTGGCCAAG - U

NI30563 - - UNI31768 - ATGAGCCTGCCCAGTGTCCCTGTCTTCCTGGAGGTTTCCGGCCAGTTTGATGTGGAGTTCCGGTTGACTGCTGCCTG

CCGAAATGGGAGCATCTATATCCTGAGAAG - UNI30563 - - UNI31768 - - UNI31908 - AGACTCCAAACACCCCAAGTACTGCATCGA

GTTGAGTGCCCAGCCAGTGGGGCTGGTCCGGGTACACAAGGTCCTGGTGGTGGGCAGCACCCAAGAGAGTCTGCATGGCTTCACCCACAAG - UNI305

63 - - UNI31908 - GGTAAGAAGCTGTGGACAGTGCAGATGCCTGCAGCCATCCTGACCATGAACCTCCTGGAGCAGCGATCCCGAGGCCTGCAAG

CTGTCATGGCTGCTCTGGCCAATGGGGAAGTCCGAATTTACCGAGACAAGGCCCTGCTCAATGTCATCCATGCCCCG - UNI16140 - - UNI3190

8 - GATGCAGTAACCAGCCTGTGCTTTGGCCGATACGGGCGAGAAGACAACACCCTCATCATGACTACTAGAG - UNI14900 - GTGGCGGCCTGA

TCATCAAGATCCTGAAGCGCACAGCAGTGTTTGTGGAAGGGACGGGTGAGGTGGGCCCACCGCTAGCACAGACCACAAAACTCAGTGTGCCCCGAAAGAC

CCGGCTGTATGTGGATCAGACCCTGCGGGAGCGGGAAGCTGGCACAG - UNI14900 - CCATGCACCGGACCTTCCAGACCGACCTCTACCTGCTGC

GCCTGCGAGCTGCCAGAGCCTATGTCCAGGCCCTGGAGTCCAGCCTGAGCCCCATGTCAACCACAGCTCGCGAGCCCCTCAAGCTGCATGCTGTG - UN

I14900 - GTTCAAGGCCTGGGCCCCACCTTTAAGCTCACACTTCACCTGCAGAATACCTCAACGGCTCGACCCGTTCTGGGGCTGCATGTCTGCTTCC

TGTACAACAAGGCGCTCTATGCCCTGCCTCAGGCTTTCTTTAAG - UNI22097 - GTTCCCTTGCTGGTACCAGGACTCAGTTACCCACTGGAAACC

TTTGTGGAGAGTCTCAGTAGCAAGGGCATCTCAGACATGATCAAG - UNI23026 - GTGCTAGTGCTTCGGGAAGGCCAGAGTGCTCCCCTGCTGAG

TGCCCACATCAACATGCCTGTGAGTGAGGGTCTGGCAGCTGCCTGAGCCCTGCGCCAGCATTCAAGTCTCCACAAACAAAATGGAGCCTTTCGGATTCAG

TGACTTCCAGTATTGCCAGACTACTTCCCCCGGTAGCAATGTAGTGAGACAGCAGCTCCCTGTTCTTCTCTGACACAGTCCCTTGCTCCCCACCTCTGCC

AGTGACCTGAGCAACAAGACACGGGGTGCTCGGAATCAGCTCCTCCTCCTCGGAACCCACTCAAGCCCTGTCCCTCAGTTCCGGCTGCCTGCTACTCCCC

AGGTCCCAGGAAGAGATGTGAGGTGGTCAGGGCGAGCATAGCCTCAGTCCGTCCGTCCTTCCTTCCACTCACCTCTTTCAGATCAAGAGCACAGTTGATC

GAGGGCTTAGATGTCGGCTGGTACTGATCCTCTGCTGTCCTTTGAAGTTGCAGGGGTGTGGGTGCTGCCAGCTTGGTTTATAGGCACATGTGCTAAGCTT

TCTCAACTGAAGAGGGGCTCCACTTTCTACCCTGAAGCCCAGGAGTCATGGGGCTCTGTCCCCAGGTCCTAGACGAGCCACAGAGATTGCCAGAGGAGCT

GGTGCCAGAAGTAGACGGGGTCCGTGTGAGGAGCTAGAGCCACACAGCCAGCAGCTGCTCCCGACATGGGTGCTCATGGCCAGAGGCACTGTTCTGAAAT

GGAATGCGGAGCTAGATAGCGGAGCTGGGGCTGGTGGCACTGGGAGAGGTCTGGACCTGGGACCTGGGAAGTGACCCAAGAGGCAGATGCCGACAAGAGC

CTGTCAGAGTGCACTTAGGTCCAGGAGCCCGAGATGGTCCTGAGGGTGGAATGTTCACTGTGCAGTGGCCAGAAGATGCCTGAGCTCACGGAAAAGGTGC

ACACCAGGGGTGTGGCATAAAGCCGAAGACTGAAGGTAGATGTGCTTAGATCTCAAGGGTCAGGGCCCCTGGCCCTCCTCAGAGGCTGTTCTGAATCACT

TGAGAAGCAGGAGCCCTGCTCCATGGAGAGCAACATTTTCCCCAGTCTGATCAGGTTCAGCCTGGTGTGTGGCACCCAGCTTAGGCTTGCAAGCTTCCAC

CTCCTCTCCAGTACAAGAGACTTGCCTGGATTAACTCTAAGCCGTTGTCAGCTCTGGCACCATTAGAGCTTGGCAGCTCCTCAGGAGAAAGGGAAGCATT

GCTCCAAGAAGGCGAGACTCAACTGCACAGCTTTGTCCACAAAACCTAAGCTGACCACCACTGCCCAGTAACAGCCTCTGCGCCCACTCGGGGACCAGGG

TGACCCTTTCAAAGGGTACTTCAGGGCCCAGGCTAAGAGACAGTGGGTCTGGACCAAAGAAACATCCTCGTTCTCATATTGCCCATCCCCCTCAAGACAG

TACTACCTGAGCAAGGAGAGCAAAGGGTTCTTTGTGCATCATCCAGTGAGGCACAGCTGGACCACGCTGGAGGTCTAACTGAAGATGGGAGAGGGCAGGG

AATGTTGCTGTGAGTCACAAACCCCAGCCTATCCTGCACAGTAAACAGGAAGGCCTGTCCAAGTTGTTGAGCCCTTGTCACTGTGTCATGTGAGCGGGGC

TGTGCTCTCATGGGGCCAGGTTGGATCATGACATCCCAGTCCCTTTCACCCAAGTCATGCTGTGAAATCAGAACAAAAATATTTGATGTGTGCACTCTTC

ATAGCTACTCATGATGATACAAGGGGTGAGACATATGACCAGGTCCTACCATAAAACACAGTGTCATACTATGCTTGCCTAGTAAGAAATGTATGCCATG

CACCTTATGCACATAAAAGAACATGAAGCATAAACGGTGCAGAGTGTCCAGTACTCACGGAAGTCAGAGTTCTAGGAAACTGAACCTTAAGGATGAGAAG

AGTCTATCTTTTTTTAACATAATACTTATTTTAAAACACACACCTATGTAATGACCTGGAATAGACTATTTAAAGTAAAATGCCCTCTTCCCATTCCACA

GGACCATTCCTGTACAACAGCCATCTTCATTAACTATTTTATTTTATTTTTTGGTTTTTCGAGACAGAGTTTCTCTGTGTAGCCCTGGCTGTCCTGGAAC

TCAACTGTAGACCAGGCTGGCCTCGAACTCAGAAATCTGCCTGCCTCTGCCTCCCAAGTGCTGGGATTAAAGGCGTGCGCCACCACCACCCAGCCATTAA

CTATTTTAAAAAAAAAAAAATATATATATATATATATATATATAAAGAGATTCTTTTAAAATTATGTGTGTGGGTGGATACAGGTGCCCAAAGAAACCAG

AAAAGGGCCTTGGATTCCCCAGGAGCTGGAGTTACAGGTGGTTGTGAGCTGCCCAGTATGGGTGCTGGGTCCTTGGCAAGAGTCCTTAGACATTACCTGT

TGATCCCTGTTGCAGCAGATAAGCGTTTGGTGCTCTTGAGACCCCTCCCCTGCTCTCCATGCTTTAGGTAGTCAGTGCCCACTGTTTACATTGCTGTTTA

TATTGATTCGTGAAAGTCTTAGTAAAGTGAGAATTAACTATAACCATTTTTGAACTTTTAGATGTTTTCATGGAATTGGCACTTGGTTTGACTTTTCTTT

CTTTCATTGCTAAGTTTTCTAATATACCATGGAAAATCCCCCCATCCTATCTCAGTTCATTTCTCGGGCGGGACACTTCCTTTCTAACTTGCTTCTGTGC

AGACTCCCCTAGAAGAGAATTCCTTCTCCTGTTAGATCCCCTGATTCCTGGGTCCCATGTCTTCTTTCTTCTTCCGCCCTCATTGGGTAAAACGTACCCA

GGGTAAGATCACTCTAAAACCCACCTGTGATGGTTATTCCTGGCTGTCACGTTGACTGTACCTGGCCTGAGCTACAGTCCAGAATTGGAGCACCCTGTGC

TCCAGAGCTGGAGGCTGGAAGGCACGGGCTTTGATCTGGACCTTGGAGCACAGTGACCGTGAGAAGCTCAGGCCCAGGGAAGGTGACTCCTGCCTTTCAT

CCCAGGAGACAGAGGCTAGCAGATCTCTTAAGTTCAAGCCAGCCTGGAACAGAACAAATTAGGTCCAGGCGTGGTGGTGCACACCTTTAATCTCAGCCAT

ACTTTCTGCTGGAGGCCTCCATAAATAAGGACAATGGAAGAAGGAAGGCTTGCTGCTTCTTTGCCTGCTTGCACTTACCTGCCAGCACATCTGTTGGAGC

CTAGTTCTTCAGGATTCCAGCTTATACAAAAGACCAGCTGAAACACCCAGCCTCATGGGACTGAGCAACTACTAGACTCTTGGACTTCCCATTCACAGCT

GCCCATTGTTGGTTAGTTGGATTGCAGCCTGAGTCATTCCAATAAATTCCCATAATATATAGAGACATTCCATAAGTTCTGTGACTCTAGAGAACCCTGA

CAAGATACCACCCAAGTCTTTATATCACTGCTTGTCTGGACACTGTTGTGACAGTCTGGGTGGTAAAACAAGCTGGGAACAGTTTTCCTGTAGGCGAAGC

TCCCATGTCTTCTGTGCTCTGTCCCAGTTGTTACTCTGAGGTGGGGGTAACGGGCATTCCTCCTCAGGGCTGGCTGTTATTCTCTCTCTGGGGCTCCAGT

TAAGCTCTGTCTGACAGATGGTCGCTACTGAGAGGACTGCATTGATCCTAATTTTCTTCTTTCATGGTCATCTTTTTGCTTTGTTTTCCAAGAGTGAGAA

TTTTGTAAGCTTTTCTTACGTTTCAAACTGTTTTTCTTAGTTCCTGTGTTCAGTTCTTATATTTTCTTCTCTTTAAGTTTTGCATTTGTTTATATGTAAG

TAGCCTAACAGCATCTAATT
Translation
MAAASSSDSDSGRAES SNEANSKWLDAHYDPMANIHTFSSCLS SLADLHGDGEYK LVVGDLGPGGQQPRLKVLKGPTVLTESPLPALPASAATFLMD

QHEPRTPALALASGPCVYVYKNLRPYFKFSLPQLPPNPLEQDVWNQAKE - UNI32586 - DQIDPLTLKEMLEDIR - UNI32586 - REKADVP

LSVQSLR - UNI32586 - RFLQLELSEMEAFVNQHKSKVIKRQ - UNI31768 - TVITTMTTLKKNLADEDAASCLVLGTESKELLVLDPEAFT

ILAK - UNI30563 - - UNI31768 - MSLPSVPVFLEVSGQFDVEFRLTAACRNGSIYILRR - UNI30563 - - UNI31768 - - UNI3

1908 - RDSKHPKYCIELSAQPVGLVRVHKVLVVGSTQESLHGFTHK - UNI30563 - - UNI31908 - GKKLWTVQMPAAILTMNLLEQRSRG

LQAVMAALANGEVRIYRDKALLNVIHAP - UNI16140 - - UNI31908 - DAVTSLCFGRYGREDNTLIMTTRG - UNI14900 - GGGLIIK

ILKRTAVFVEGTGEVGPPLAQTTKLSVPRKTRLYVDQTLREREAGTA - UNI14900 - AMHRTFQTDLYLLRLRAARAYVQALESSLSPMSTTAREP

LKLHAV - UNI14900 - VQGLGPTFKLTLHLQNTSTARPVLGLHVCFLYNKALYALPQAFFK - UNI22097 - VPLLVPGLSYPLETFVESLSS

KGISDMIK - UNI23026 - VLVLREGQSAPLLSAHINMPVSEGLAAA

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