Mypn - SNV Details



 Human Rare Diseases 
Familial isolated dilated cardiomyopathy

 Gene Information 
Gene Name Mypn
Old Gene Names for Mypn 1110056a04rik , Ai853556
Gene Description myopalladin [Source:MGI Symbol;Acc:MGI:1916052]
Uniprot Name
CCDS Name
Gene GO
SH3 domain binding; sarcomere organization; muscle alpha-actinin binding; protein binding; I band; nucleus; Z disc; microtubule cytoskeleton; actin binding; cytoskeletal protein binding
Homolog in other species MYPN
Omim http://omim.org/entry/608517
Immgen Expression
LOW
Gnf Expression
MEDIAN(HIGH IN RETINA, SPINALCORDLOWER, SPINALCORDUPPER, C2C12, EPIDERMIS TISSUES, BROWNFAT, HEART, SKELETALMUSCLE, IMM.G2, TRACHEA, PROSTATE)
MEDIAN(HIGH IN C2C12, HEART, SKELETALMUSCLE)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000020067
Chromosome 10
Coordinate 63,192,586     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 19
Allele Frequency
T:R0.42
C:V0.58
Amino Acid Change R->G (Arginine -> Glycine)
Sample ID IGL02829
Median Base Quality 39
Backgrounds C57BL/6
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 39 Other Mutations

 Predictions 
Polyphen Score 0.57
Polyphen Prediction Possibly damaging

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved