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 Splice
Ensembl ID ENSMUSG00000047419
Chromosome 13
Coordinate 93,084,535     (Assembly: GRCm38)    
Ref Base G
Var Base A
Zygosity Heterozygous
Read Depth 12
Allele Frequency
G:R0.42
A:V0.58
Amino Acid Change Disrupted splicing
Splice Position 10
Sample ID IGL02034
Median Base Quality 41
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 34 Other Mutations

 Predictions 
Druggable Yes, View known drug interactions

 Availability Details 
Availability Progeny Cryopreserved