Cmya5 - SNV Details



 Gene Information 
Gene Name Cmya5
Old Gene Names for Cmya5 2310076e21rik , 2310076e16rik , Aa420382 , Ai504003
Gene Description cardiomyopathy associated 5 [Source:MGI Symbol;Acc:MGI:1923719]
Uniprot Name
CCDS Name
Gene GO
costamere; regulation of skeletal muscle adaptation; protein binding; negative regulation of calcineurin-NFAT signaling cascade; identical protein binding; negative regulation of protein phosphatase type 2B activity
Homolog in other species CMYA5
Omim http://omim.org/entry/612193
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
MEDIAN(HIGH IN RETINA, SPINALCORDLOWER, SPINALCORDUPPER, C2C12, EPIDERMIS TISSUES, BROWNFAT, HEART, SKELETALMUSCLE, IMM.G2, TRACHEA, PROSTATE)
MEDIAN(HIGH IN IMM.G2, SPLEEN)
MEDIAN(HIGH IN MACROPHAGES, OSTEOCLASTS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000047419
Chromosome 13
Coordinate 93,084,612     (Assembly: GRCm38)    
Ref Base A
Codon Change cTa/cCa
Var Base G
Zygosity Heterozygous
Read Depth 26
Allele Frequency
A:R0.50
G:V0.50
Amino Acid Position 3163
Amino Acid Change L->P (Leucine -> Proline)
Sample ID IGL01106
Median Base Quality 37
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 30 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious
Druggable Yes, View known drug interactions

 Availability Details 
Availability Cryopreserved