Itga4 - SNV Details



 Gene Information 
Gene Name Itga4
Gene Description integrin alpha 4 [Source:MGI Symbol;Acc:MGI:96603]
MGI phenotype Mice homozygous for disruptions in this gene exhibit embryonic lethality either due to failure of chorioallantoic fusion or cardiac abnormalities, including hemorrhage around the heart and defects in epicardium formation.
Uniprot Name
CCDS Name
Gene GO
cell adhesion molecule binding; membrane; chorio-allantoic fusion; cell adhesion; leukocyte cell-cell adhesion; negative regulation of protein homodimerization activity; external side of plasma membrane; cell-cell junction; protein binding; cell surface; face development; cell migration; heterophilic cell-cell adhesion; extracellular vesicular exosome; fibronectin binding; integrin complex; blood vessel remodeling; integrin-mediated signaling pathway; plasma membrane; T cell migration; heart development
Homolog in other species ITGA4
Omim http://omim.org/entry/192975
Immgen Expression
HIGH
Gnf Expression
MEDIAN(HIGH IN IMM.G1, IMM.G3)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000027009
Chromosome 2
Coordinate 79,325,638     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 27
Allele Frequency
A:R0.48
G:V0.52
Amino Acid Change I->V (Isoleucine -> Valine)
Sample ID IGL03008
Median Base Quality 39
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 71 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign

 Availability Details 
Availability Progeny Cryopreserved