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Gene ENSMUSG00000031755 (Bbs2)
Chromosomal location
Chr 8: 96591854 - 96622711 (-)
Description
Bardet-Biedl syndrome 2 (human) Gene [Source:MGI Symbol;Acc:MGI:2135267]
RefSeq_dna
NM_026116 
RefSeq_peptide
NP_080392.1 
UniGene
Mm.292107 
MGI
MGI:2135267 
Uniprot/SWISSPROT
Q9CWF6 
Uniprot/SPTREMBL
Q8C1M6 
Human Ortholog
ENSG00000125124 (BBS2)
Omim 209900 - BARDET-BIEDL SYNDROME  
UniTrap UNI31443
Vector Insertion
Chr 8: 96606255 - 96610643
Public Clones IST11865B10 (tigm)
Private Clones not available
Severity of mutation (?) Insertion after 37% of polypeptide chain
Proposed experimental design for vector insertion validation (?)

UniTrap UNI28956
Vector Insertion
Chr 8: 96599161 - 96600851
Public Clones not available
Private Clones OST14996 (lexicon)
Severity of mutation (?) Insertion after 77% of polypeptide chain
Proposed experimental design for vector insertion validation (?)

UniTrap UNI13612
Vector Insertion
Chr 8: 96592283 - 96593861
Public Clones CMHD-GT_438B3-3 (cmhd) CMHD-GT_398C10-3 (cmhd) CMHD-GT_266D4-3 (cmhd) CMHD-GT_438A3-3 (cmhd)
CMHD-GT_136E1-3 (cmhd) PSTVUpb21e1 (vanderbilt) IST12405C6 (tigm)
Private Clones OST375579 (lexicon)
Severity of mutation (?) Insertion after 95% of polypeptide chain
Proposed experimental design for vector insertion validation (?)

Show all transcripts and translations:
Transcript ENSMUST00000034206
Sequence
CGTAAAGCCTTAGTTCTTGAACGAATGAAAGGGTGACATAGTGTGTGGCGTGTACGGGGTGCAGCTTGGCTGACACGCTACAGAGAATCCTGGGGAGGTA

CTGGCTTAGACACCGCCATCCCAGACGCCAAGGTAAGGCTTCATCTAACACTAATTTACAGCCGCAGTCCGAGGACAGACAAAGAACGCAGGCCAACCAG

GCACGACGCCACTGCGCAGTCGCAGGAGCTAGTTGGGACTTGCGTAGCTCTGCCGCTGGGAGGGTCCGCGCAGGCGTAGAGAGAGTTGGCGACACCGATC

GCGCTCTAGTCTGCGCTTCCGGCGCCGGGCCTGTGGCGTTCCGCAGTCCTGCGTGTATTTACCTCCTACTCCTCATCCGCTGCTAGGCAACCGGCCGGCC

AAGCTGCTTGCCTTGCGCCTGCGTCGGGCATCTGTCTTCCGCCCCTAGCTGGCGCCATCATGCTGCTGCCTGTGTTCACTCTGAAACTGCGCCACAAAAT

CAGCCCCCGCATGGTGGCCATAGGGCGCTACGACGGGACTCACCCGTGCTTGGCTGCCGCCACCCAAGCGGGCAAG GTTTTCATTCATAACCCTCACAC

GCGGAGCCAGCATTTCAGTGCTTCCAGAGTGTTCCAGAGCCCTCTGGAGTCTGATGTCTCTCTGCTCAACATTAACCAGACGGTCAGCTGCCTGGGTTCG

GGAGTCTTGAACCCTGAGCTTGGCTATGATACTCTTTTAGTGGGGACACAGACCAGTCTTTTGGCTTACGACATCTACAATAATTCAGATTTGTTCTACA

GAGAG GTCTCAGATGGGGCAAATGCCATTGTGCTGGGGACCCTGGGAGACATTGCCCCACCTCTTGCAATCATCGGTGGAAACTGTGCTCTGCAGGGTT

TCGATCACGAAGGAAATGATCTCTTTTGGACG GTTACTGGAGACAATGTGCATTCCTTGGCTCTGTGTGACTTTGACGGTGATGGGAAGACAGAG CTT

CTTGTTGGATCTGAAGATTTTGACATTCGAGTTTTTAAAGAAGATGAGATTGTGGCAGAAATGACAGAGACAGAG ATAGTCACCTCTCTGTGTCCTATG

TATGGCAGTCGGTTTGGTTACGCCCTTTCTAATGGCACAGTTGGAGTTTATGACAAAACAGCCCGGTACTGGAGAATTAAA - UNI31443 - TCCAA

AAACCATGCCATGAGCATCCATGCTTTTGACATTAATTCTGATGGAGTGTGTGAACTGATAACCGGGTGGTCTAATGGGAAG - UNI31443 - GTTG

ATGCTCGCAGTGACCGGACTGGAGAGGTCATATTTAAAGACAACTTCTCTTCTGCTGTTGCTGGTGTGGTAGAGGGAGATTACCGGATGGATGGCCACGT

ACAGTTAATCTGCTGCTCAGTGGATGGGGAAA - UNI31443 - TCCGAGGCTACCTGCCAGGCACAGCTGAGATGAAGGGGAACCTCCTGGACACAA

GTGTGGAGCAGGACCTGATCCGAGAGCTGAGTCAGAAAAAGCAGAACCTGTTGCTAGAACTTCGCAACTATGAGGAGAGCACCAAG GCAGAACTGAGCA

GTCCCCTGAACGAGGCCGATGGGCAGAAAGGCATAATCCCAGCCAATACCAGGCTCCACACAGCGCTCTCAGTCAATATGGGGAATGACTTACAAGATGC

GCATGCGGAATTAGGCATTTCCACTTCCAATG ATACTATCATCCGAGCAGTACTAATTTTTGCAGAGGGAATTTTTGTGGGTGAAAGCCATGTGGTCCA

CCCCAGCATTCACAACCTTTCCAGCTCCCTCCGGGTACCAATTACACCTCCCAAAGATGTCCCTGTGGATCTGCACCTGAAAACCTTCGTGGGTTACAGA

AGCAG CACCCAGTTCCATGTGTTTGAACTGACAAGACAGCTGCCCCGATTCACCATGTATGCATTGACAAGCCCAGATGCAGCTAGCGAGCCTGTCAGC

TACGTGAACTTCAGTGTTGCCGAGCGCACACAGAGG ATGGTCACGTGGCTCAACCAGAACTTTCTGTTGCCAGAAGACAGTAACGTTCAGAATTCCCCG

TTTCACGTCTGTTTCACATCGTTACGCAATGGTGGCCAGCTCTACATAAAAATGAAACAAAGTGGTGAG - UNI28956 - ATCACTGTGAATACTGA

CGATATTGATCTAGCTGGTGACATCATCCAGTCGATCGCGTCCTTTTTTGCTATTGAAGACCTTCAGGTAGAAGCAGATTTCCCTGTGTACTTCGAGGAA

CTACGGAAAGTGCTGGTGAAG GTGGATGAGTATCATTCAGTGCATCAAAAGCTCAGCGCCGACATGGCTGATAATTCTAACCTCATCCGAAGTTTGCTG

GTCAGAGCGGAGGATGCTCGGCTGATGAGGGACAT GAAAACAATGAAGAGTCGTTACATGGAGCTCTATGACCTTAATAAAGATTTGCTGAATGGATAC

AAGATTCGCTGTAACAACCACACAGAACTGCTAGGAAACCTGAAGGCGGTGAACCAAGCAATCCAAAGAGCAGGCCGTCTGCGCG - UNI13612 - T

TGGAAAGCCAAAGAACCAGGTGATCAGTGCTTGTCGGGATGCGATTCGAAGCAACAACATCAACACCCTCTTCAGAATCATGCGAGTGGGCACTGCTCCT

TCATAGGAGACAGGGAAAGAGGAAGGAAGCCCCTGCAAAAGGTCTAGACACGGAGCCTGGCTGGCTCCCGATCACAGCCTGGGCATCCAGCTGCTAAGGA

TGAAACCATGCTAACTGATACAGCTAAGGACAAAGCACTCCGGCTGAAAGCCTCCTTCATTGATATCAGTGGTGTTGCTGATTTGTATCTTAAAATATAT

CACCATTTCAGAATTTAACTTGTTTTTGTACATAAAGTTAGTGTATGAATTTATTCCCCCCGAAATTGTTACTGAAATTTAAAATGGAGTACCTACTTTT

TCATTAAAAATAAAAGGCACTGGTCTTC
Translation
MLLPVFTLKLRHKISPRMVAIGRYDGTHPCLAAATQAGK VFIHNPHTRSQHFSASRVFQSPLESDVSLLNINQTVSCLGSGVLNPELGYDTLLVGTQTS

LLAYDIYNNSDLFYRE VSDGANAIVLGTLGDIAPPLAIIGGNCALQGFDHEGNDLFWT VTGDNVHSLALCDFDGDGKTE LLVGSEDFDIRVFKEDEI

VAEMTETE IVTSLCPMYGSRFGYALSNGTVGVYDKTARYWRIK - UNI31443 - SKNHAMSIHAFDINSDGVCELITGWSNGK - UNI31443 -

 VDARSDRTGEVIFKDNFSSAVAGVVEGDYRMDGHVQLICCSVDGEI - UNI31443 - IRGYLPGTAEMKGNLLDTSVEQDLIRELSQKKQNLLLEL

RNYEESTK AELSSPLNEADGQKGIIPANTRLHTALSVNMGNDLQDAHAELGISTSND DTIIRAVLIFAEGIFVGESHVVHPSIHNLSSSLRVPITPPK

DVPVDLHLKTFVGYRSS STQFHVFELTRQLPRFTMYALTSPDAASEPVSYVNFSVAERTQR MVTWLNQNFLLPEDSNVQNSPFHVCFTSLRNGGQLYI

KMKQSGE - UNI28956 - ITVNTDDIDLAGDIIQSIASFFAIEDLQVEADFPVYFEELRKVLVK VDEYHSVHQKLSADMADNSNLIRSLLVRAEDA

RLMRDM MKTMKSRYMELYDLNKDLLNGYKIRCNNHTELLGNLKAVNQAIQRAGRLRV - UNI13612 - VGKPKNQVISACRDAIRSNNINTLFRIM

RVGTAPS

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