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Gene ENSMUSG00000050248 (Evc2)
Chromosomal location
Chr 5: 37729726 - 37816285 (+)
Description
Ellis van Creveld syndrome 2 homolog (human) Gene [Source:MGI Symbol;Acc:MGI:1915775]
RefSeq_dna
NM_145920 
RefSeq_peptide
NP_666032.1 
UniGene
Mm.25506 
MGI
MGI:1915775 
Uniprot/SWISSPROT
Q8K1G2 
Uniprot/SPTREMBL
Q3TNS0 Q3UYX2 
Human Ortholog
ENSG00000173040 (EVC2)
Omim 193530 - WEYERS ACROFACIAL DYSOSTOSIS  225500 - ELLIS-VAN CREVELD SYNDROME  
UniTrap UNI24268
Vector Insertion
Chr 5: 37729967 - 37738678
Public Clones not available
Private Clones OST226248 (lexicon)
Severity of mutation (?) Insertion after 8% of polypeptide chain
Proposed experimental design for vector insertion validation (?)

UniTrap UNI21757
Vector Insertion
Chr 5: 37738748 - 37739826
Public Clones not available
Private Clones OST318786 (lexicon)
Severity of mutation (?) Insertion after 12% of polypeptide chain
Proposed experimental design for vector insertion validation (?)

UniTrap UNI23742
Vector Insertion
Chr 5: 37742414 - 37748638
Public Clones not available
Private Clones OST246297 (lexicon)
Severity of mutation (?) Insertion after 33% of polypeptide chain
Proposed experimental design for vector insertion validation (?)

Show all transcripts and translations:
Transcript ENSMUST00000101258
Sequence
TGGCTGGGAATATCCTGGCCGCTGCCCTGGTACTGGGCTCGGGTCCGCGTGCACTTCCACCATCCTTCCCTGCCCTGGGCCCAGGGTCACCATCTCGGCC

CG CCAGCAGGACCCTGGGCAAGCTCGCAG - UNI24268 - TACAGCGATATTTCAAGAGAAGCCCGAGGTCCCTTTGAGAATGGAGTGATATTTCA

AAAATGCTCACTG - UNI21757 - GTGTCTGGGCAGAGCGAATCGCAGACCATGCACGTGCAGCTGTCCGTGAACAACACCAGGACGCCCACATCAG

TCAACCTTTCGAACCTGCTCGTGCTAGATGAGATCACTGGCCTTGCTGTGAAGGAGTCGCCTGGAAATAATACTCAGGATGGAATCCAGACTTTCAGAAA

GAGCTTTCTGCAAG TGGGAGAATGCTACTCTGTCAGCTACACAGCCTCGCTGGACCCCACAGCCCTTGGGACTGGGGAGAGCCTGGATCTTCCTGCCCG

GCTCATCTTTCAGAGCCCCTCACAG AACAGAACTCAGCTAAAAGCCCCCTTTACCATCACAGTGGAAGAAAAGATAATG - UNI23742 - GTTCTT

CCTAACCATGGTCTTCACGCAGCAGGCTTCATCGCAGCCTTCCTCATCTCCCTCCTCCTGACCGTGGCAGCCCTGTTCTTCTTGGCGAGGGGTCGATGTC

TGCAGGGAGGCATGCTGTCCAGATGCCGG ATTCAGCATCCTGAGAACAAGCTGGAGCCCTCGCCCTTCACCTCTGCTAACGGTGTGAGCCAGGACCTTT

CCCTCAATGACCAAGTGGTTGCCATCCTGACTTCTGAGGAGCCTGGGAGCATGCTTCAAGCCCTAGAAGA GTTGGAGATCGCAACCCTGAATCAGGCAG

ATGCGGATCTGGAGGCTTGTCGAAACCAGATTAGTAAGGACATCATTGCCCTTTTGATGAAGAATCTGGTCAGCGGTGGTCACCTCTCTCCGCAAACAGA

AAGGAAGATGGCCGCTGCTTTCAAAAAGCAGTTTCTGCTGTTGGAAAATGAAATACAGGAGGAGTATGAGCGGAAGATGTTGGCACTGACGGCAGAGTGT

GACCTAGAGATGAGGAAGAAGACAGAAAACCAGTACCAGAGGGAGATGGTGGCCATGGAGGAAGCAGAAGAGGTGTTGAAGAGAGTTAGCGAGAGG TCT

GCTGCCGAGTGCAGCAGCCTTTTGCGGACCCTCCATGGGCTGGAGCAGGAGGACATGCAGAGGTCCCTTACTCTGGACCAAGCCGAGGACTTTGCTCAAG

CACACAGGCAGCTGGCTGTTTTCCAGAGGAATGAATTACACAGCATCGTCTATACCCAGATACAGAGTGCTGTCTCCAAAGGGGAACTGAGGCCTGAGGT

GGCTAAAATGATGCTGCAAGACTACTCTAAAACACAG GAGAGTGTAGAAGAGCTGATGGACTTCTTCCAGGCCACCAAGCGATACCATCTCAGCAAGAG

GTTTGGCCACAGAGAGTACCTGGTCCAGAGACTGCAGGCCATGGAGACCCGGGTGCAAGGGCTGCTGAACACCGCGGCTACCCAGCTAACAAGCCTCATC

CATAAACATGAGAG GGCTGGCTACTTGGATGAAGATCAGATGGAAACGCTATTGGAGCGTGCACAGACAGAAACCTTTTCTATAAAACAGAAGCTGGAC

AATGACTTAAAGCAG
Translation
WLGISWPLPWYWARVRVHFHHPSLPWAQGHHLGP PAGPWASSQ - UNI24268 - YSDISREARGPFENGVIFQKCSL - UNI21757 - VSGQS

ESQTMHVQLSVNNTRTPTSVNLSNLLVLDEITGLAVKESPGNNTQDGIQTFRKSFLQV VGECYSVSYTASLDPTALGTGESLDLPARLIFQSPSQ NRT

QLKAPFTITVEEKIM - UNI23742 - VLPNHGLHAAGFIAAFLISLLLTVAALFFLARGRCLQGGMLSRCR IQHPENKLEPSPFTSANGVSQDLSL

NDQVVAILTSEEPGSMLQALEE ELEIATLNQADADLEACRNQISKDIIALLMKNLVSGGHLSPQTERKMAAAFKKQFLLLENEIQEEYERKMLALTAEC

DLEMRKKTENQYQREMVAMEEAEEVLKRVSER SAAECSSLLRTLHGLEQEDMQRSLTLDQAEDFAQAHRQLAVFQRNELHSIVYTQIQSAVSKGELRPE

VAKMMLQDYSKTQ ESVEELMDFFQATKRYHLSKRFGHREYLVQRLQAMETRVQGLLNTAATQLTSLIHKHER RAGYLDEDQMETLLERAQTETFSIKQ

KLDNDLKQ
Transcript ENSMUST00000056365
Sequence
GGTCCCGGGGTCCGGAAGCTCCGCGACTCTGCGGGGCCTGTGTGGGGTCTGTAGCCACCAGATGGGGGCGACGGGCCCCACGGGCGCTGGGGGACGAGCC

ACGTGGGTGCTGGCTGGGAATATCCTGGCCGCTGCCCTGGTACTGGGCTCGGGTCCGCGTGCACTTCCACCATCCTTCCCTGCCCTGGGCCCAGGGTCAC

CATCTCGGCCCGGCCCAGCAGGACCCTGGGCAAGCTCGCAG - UNI24268 - TACAGCGATATTTCAAGAGAAGCCCGAGGTCCCTTTGAGAATGGA

GTGATATTTCAAAAATGCTCACTG - UNI21757 - GTGTCTGGGCAGAGCGAATCGCAGACCATGCACGTGCAGCTGTCCGTGAACAACACCAGGAC

GCCCACATCAGTCAACCTTTCGAACCTGCTCGTGCTAGATGAGATCACTGGCCTTGCTGTGAAGGAGTCGCCTGGAAATAATACTCAGGATGGAATCCAG

ACTTTCAGAAAGAGCTTTCTGCAAG TGGGAGAATGCTACTCTGTCAGCTACACAGCCTCGCTGGACCCCACAGCCCTTGGGACTGGGGAGAGCCTGGAT

CTTCCTGCCCGGCTCATCTTTCAGAGCCCCTCACAG AACAGAACTCAGCTAAAAGCCCCCTTTACCATCACAGTGGAAGAAAAGATAATG - UNI237

42 - GTTCTTCCTAACCATGGTCTTCACGCAGCAGGCTTCATCGCAGCCTTCCTCATCTCCCTCCTCCTGACCGTGGCAGCCCTGTTCTTCTTGGCGAG

GGGTCGATGTCTGCAGGGAGGCATGCTGTCCAGATGCCGG ATTCAGCATCCTGAGAACAAGCTGGAGCCCTCGCCCTTCACCTCTGCTAACGGTGTGAG

CCAGGACCTTTCCCTCAATGACCAAGTGGTTGCCATCCTGACTTCTGAGGAGCCTGGGAGCATGCTTCAAGCCCTAGAAGA GTTGGAGATCGCAACCCT

GAATCAGGCAGATGCGGATCTGGAGGCTTGTCGAAACCAGATTAGTAAGGACATCATTGCCCTTTTGATGAAGAATCTGGTCAGCGGTGGTCACCTCTCT

CCGCAAACAGAAAGGAAGATGGCCGCTGCTTTCAAAAAGCAGTTTCTGCTGTTGGAAAATGAAATACAGGAGGAGTATGAGCGGAAGATGTTGGCACTGA

CGGCAGAGTGTGACCTAGAGATGAGGAAGAAGACAGAAAACCAGTACCAGAGGGAGATGGTGGCCATGGAGGAAGCAGAAGAGGTGTTGAAGAGAGTTAG

CGAGAGG TCTGCTGCCGAGTGCAGCAGCCTTTTGCGGACCCTCCATGGGCTGGAGCAGGAGGACATGCAGAGGTCCCTTACTCTGGACCAAGCCGAGGA

CTTTGCTCAAGCACACAGGCAGCTGGCTGTTTTCCAGAGGAATGAATTACACAGCATCGTCTATACCCAGATACAGAGTGCTGTCTCCAAAGGGGAACTG

AGGCCTGAGGTGGCTAAAATGATGCTGCAAGACTACTCTAAAACACAG GAGAGTGTAGAAGAGCTGATGGACTTCTTCCAGGCCACCAAGCGATACCAT

CTCAGCAAGAGGTTTGGCCACAGAGAGTACCTGGTCCAGAGACTGCAGGCCATGGAGACCCGGGTGCAAGGGCTGCTGAACACCGCGGCTACCCAGCTAA

CAAGCCTCATCCATAAACATGAGAG GGCTGGCTACTTGGATGAAGATCAGATGGAAACGCTATTGGAGCGTGCACAGACAGAAACCTTTTCTATAAAAC

AGAAGCTGGACAATGACTTAAAGCAGGAAAAGAAAAGGCTCCACCAGAGATTAATAACCAGGAGGCGGCGAGAGCTTCTGCAGAAG CACAAGGAGCAGC

AGAAGGAGCAGGTGTCCCTTGGCGAGGCCTCCAGCACCGCGGAGGACGCAGTCCAGTACCTGCACCAGTGGAGGAGCGTGATGGCCGAGCACACCGCTGC

CCTGGAGGAGCTGCAGGAACGTCTGGACCAGGCTGCCCTGGATGACCTCCGGGTCCTGACTGTGTCGCTGTCGGAGAAAGCCACGGAAGAGCTGAGGCGC

CTGCAGAGCACGGCCATGACACAGGAGCTGCTGAAGCGCAGTGCTCCCTGGCTCTTCCTGCAGCAGATCTTAGAGGAGCACAGCCGGGAGTCTGCGGCTC

GCACCACGCAACTGGAGGCAGAGGAGAGGGAACGTGGCCAGGAGCTGGTGCAGGGCGTGAGGCAGAGGCTACAGCAGGATGCACTGGAGGCCTACACGGA

AGAGCAGGCAGAGCTGAGGCACTGGGAGCACTTGGTGTTCAT GAAACTCTGCTGTGCGGCCATCTCATTGTCTGAAGAAGACCTGCTCCGGGTAAGGCA

GGAGGCACAGGGCTGCTTCAGCCAGCTGGACCGGAGCTTGGCCCTCCCCAGAGTCCGTGCACGAGTGTTGCAGCAGCAGGCGCAGATGGCCTGGCGGGAA

GCAGAGTTTCGGAAACTGGACCAGGCCCTGGCTGCGCCTGAGCTGCAG TCCAAGGCAAGAAAGCTGCGTTCCAAGGGCAGAGGCAAGGCCGATCTTCTG

AAGAAGAACCTGGAGGATAAGATCCGACTATTCGAGGAGCGGGCCCCTGTAGAACTGGCTGACCAG GTGCGAGGGGAATTGCTCCAAGAGAGGGTCCAG

AGGCTGGAGGCCCAGGAGGCGCACTTTGCTGAGTCACTTGTGGCTCTGCAGTTCCAGAAGGTGGCCCGGGCTGCTGAGACCCTCTCAGTCTACACCGCCC

TGCTCAGCATTCAAGACCTGCTGCTGGGGGAGCTGAGTGAGTCGGAGACCCTGACCAAGTCAGCCTGTGTGCAGATCCTGGAGTCCCACAGGCCG GAGC

TGCAGGAGCTGCAGGAGCTGGAGAGGAAGCTGGAGGACCAGCTGGTGCAGCAGGAAGAGGCCGAGCAGCAGCGGGTCCTGGAGAGCTGGCAGCGGTGGGC

GGCCGATGGACCTGGGCTGAGCGAACCTGAGGAGATGGATCCTGAAAGGCAGGTCTCTGCCATCCTGCGGCAAGCCCTGAACAAGGGCCAGAAGCTGCTG

GAGCAGCATCAGCAGAG GGTGAGAGAGGAGTGGCAGAACGGTGCGGTGCTGGAAGATTCTCTGGAAAGCATTGAAGCTGACACCATGGCCAGCCTTTGC

AGCCAG GGACTGAGGCTGGTGTCATACCTCTCAAGGATGACAATGGTACCAGGCAGCACACTACTGCGACTCCTGAGTGTGGTGCTTCCAGCGGCTTCA

CAGCCTCAGCTACTGGCCCTGCTGGACGCAGTCAGTGAGAAGCACTCCGACCACACAGCTGAGAATGAGAGCAGTGGTGAGCAGGCTCAGGCAGAGCAGA

GCAAGAGGAG GAAACACCAAGTTTGGTGGAAGGTTTTGGACAGCAGATTCAGAGCAGATCTGGTGAGTCAAGGACTGGAGAGGATGCTCTGGGCCCGCC

AGAAGAAGGAGCG CATATTGAAGAAGATATATGTTCCCGTCCAGGAGAGGGTGATGTTTCCTGGGAAAGGAAGCTGGCCACACCTGTCCCTAGAACCCA

TTGGAGAACTGGCTCCCATCCCCATCACTGGGGCAGACGCTATGGACATATTAAACACGGGAGAAAAGATCTTTGTATTCAGAAGCCCAAGGGAGCCCGA

GATCTCTTTGCGTGTTCCTCCCAGGAGGAAAAAGAATTTCCTGAATGCCAAGAAGGCCAACAGGGCCTTGGGCTTGGACTGACCCAGGGGGAAGCACCAG

GGGCTGTCTCAAGACAGGTGCATCTTTCCTCCAGCCCACGTGGGTTGGTCTGTCCGTCTATATCATACAGCTTGCAGTATACATATGCTTGCAGCCTTGA

CACAGTGCCACGCAAGTTGGCCCTCCGGTGTTCAGGTCCAGTCTCTTTTGTGCCACAGGACACAAACATACCTTCCTTCTAAGTCCGTATTACCATGATC

TAGAGGGAACCCACCTTACCCCACCTTCCTCACACAGACCACTGGCTGTGGCTGGGATGGGTCCCCACCCCACCCAGTTTATGTGAGGAAGGTGCAGCTC

TCTATTCTTACAATGTGTGTTACATGCTCTGTTTTTCCATAAAGGGAACTTT
Translation
MGATGPTGAGGRATWVLAGNILAAALVLGSGPRALPPSFPALGPGSPSRPGPAGPWASSQ - UNI24268 - YSDISREARGPFENGVIFQKCSL - 

UNI21757 - VSGQSESQTMHVQLSVNNTRTPTSVNLSNLLVLDEITGLAVKESPGNNTQDGIQTFRKSFLQV VGECYSVSYTASLDPTALGTGESLD

LPARLIFQSPSQ NRTQLKAPFTITVEEKIM - UNI23742 - VLPNHGLHAAGFIAAFLISLLLTVAALFFLARGRCLQGGMLSRCR IQHPENKLE

PSPFTSANGVSQDLSLNDQVVAILTSEEPGSMLQALEE ELEIATLNQADADLEACRNQISKDIIALLMKNLVSGGHLSPQTERKMAAAFKKQFLLLENE

IQEEYERKMLALTAECDLEMRKKTENQYQREMVAMEEAEEVLKRVSER SAAECSSLLRTLHGLEQEDMQRSLTLDQAEDFAQAHRQLAVFQRNELHSIV

YTQIQSAVSKGELRPEVAKMMLQDYSKTQ ESVEELMDFFQATKRYHLSKRFGHREYLVQRLQAMETRVQGLLNTAATQLTSLIHKHER RAGYLDEDQM

ETLLERAQTETFSIKQKLDNDLKQEKKRLHQRLITRRRRELLQK HKEQQKEQVSLGEASSTAEDAVQYLHQWRSVMAEHTAALEELQERLDQAALDDLR

VLTVSLSEKATEELRRLQSTAMTQELLKRSAPWLFLQQILEEHSRESAARTTQLEAEERERGQELVQGVRQRLQQDALEAYTEEQAELRHWEHLVFM MK

LCCAAISLSEEDLLRVRQEAQGCFSQLDRSLALPRVRARVLQQQAQMAWREAEFRKLDQALAAPELQ SKARKLRSKGRGKADLLKKNLEDKIRLFEERA

PVELADQ VRGELLQERVQRLEAQEAHFAESLVALQFQKVARAAETLSVYTALLSIQDLLLGELSESETLTKSACVQILESHRP ELQELQELERKLEDQ

LVQQEEAEQQRVLESWQRWAADGPGLSEPEEMDPERQVSAILRQALNKGQKLLEQHQQR RVREEWQNGAVLEDSLESIEADTMASLCSQ GLRLVSYLS

RMTMVPGSTLLRLLSVVLPAASQPQLLALLDAVSEKHSDHTAENESSGEQAQAEQSKRR RKHQVWWKVLDSRFRADLVSQGLERMLWARQKKER RILK

KIYVPVQERVMFPGKGSWPHLSLEPIGELAPIPITGADAMDILNTGEKIFVFRSPREPEISLRVPPRRKKNFLNAKKANRALGLD

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