etv5a

Ensembl ID:
ENSDARG00000069763
ZFIN ID:
ZDB-GENE-030131-9572
Description:
ETS translocation variant 5 [Source:RefSeq peptide;Acc:NP_001119933]
Human Orthologue:
ETV5
Human Description:
ets variant 5 [Source:HGNC Symbol;Acc:3494]
Mouse Orthologue:
Etv5
Mouse Description:
ets variant gene 5 Gene [Source:MGI Symbol;Acc:MGI:1096867]

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa279 Nonsense F2 line generated During 2015
sa16031 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa279
Current Status:
F2 line generated
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2015.
Mutation:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000101770 Nonsense 20 522 3 13
ENSDART00000126015 Nonsense 20 524 3 13
ENSDART00000139434 Nonsense 19 97 3 6
ENSDART00000145005 Nonsense 19 180 3 7
Genomic Location:
Chromosome 9 (position 23667593)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TTTAAAACTGGGTGACACTAACCAACGTGTTTTTCCATAGCAGAAGTCAT[T/A]GCAAGTGGAGGAACCATATAACAGACCAGTTAATGACAGAAAGAGAAAGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa16031
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
G > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000101770 Nonsense 442 522 12 13
ENSDART00000126015 Nonsense 442 524 12 13
ENSDART00000139434   None 97 None 6
ENSDART00000145005   None 180 None 7
Genomic Location:
Chromosome 9 (position 23680454)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CCATGAACTAYGACAAGCTGAGTCGCTCACTGCGCTACTACTATGAGAAG[G/T]GAATCATGCAGAAGGTAAAGRCAGGTTCACCTTTTCCTKTACTTCGCACT
Associated Phenotype:
Not determined

GWAS

This gene's human homologue has been identified in the following GWAS studies:

  • Body mass index: Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. (View Study)
  • Menarche (age at onset): Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. (View Study)
  • Weight: Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity. (View Study)

(GWAS data comes from http://www.genome.gov/gwastudies/.)

Register

If you would like to be informed when the status of this gene changes (for example, a new allele is generated or an allele is made available for distribution) then please enter your details below:

* quick link - http://q.sanger.ac.uk/rv9mpt0d