Xirp2 - SNV Details



 Gene Information 
Gene Name Xirp2
Old Gene Names for Xirp2 2310003d02rik , 2310008c07rik , A530024p18rik , Ai452089 , Cmya3 , Gm352
Gene Description xin actin-binding repeat containing 2 [Source:MGI Symbol;Acc:MGI:2685198]
Uniprot Name
CCDS Name
Gene GO
actin cytoskeleton organization; cell-cell junction organization; cardiac muscle tissue morphogenesis; zinc ion binding; alpha-actinin binding; cell junction; Z disc; ventricular septum development; actin binding
Homolog in other species XIRP2
Omim http://omim.org/entry/609778
Immgen Expression
LOW
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000027022
Chromosome 2
Coordinate 67,508,651     (Assembly: GRCm38)    
Ref Base A
Codon Change gAg/gGg
Var Base G
Zygosity Heterozygous
Read Depth 16
Allele Frequency
A:R0.31
G:V0.69
Amino Acid Position 412
Amino Acid Change E->G (Glutamic acid -> Glycine)
Sample ID IGL02274
Median Base Quality 40.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 31 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0.12
Sift Prediction tolerated

 Availability Details 
Availability Cryopreserved