Mylpf - SNV Details



 Gene Information 
Gene Name Mylpf
Old Gene Names for Mylpf 2410014j02rik
Gene Description myosin light chain, phosphorylatable, fast skeletal muscle [Source:MGI Symbol;Acc:MGI:97273]
MGI phenotype Mice homozygous for a disruption in this gene die immediately after birth and completely lack skeletal muscle.
Uniprot Name
CCDS Name
Gene GO
lysosomal membrane; immune response; myosin complex; skeletal muscle tissue development; structural constituent of muscle; calcium ion binding
Homolog in other species MYLPF
Immgen Expression
MEDIAN
Gnf Expression
MEDIAN(HIGH IN RETINA, SPINALCORDLOWER, SPINALCORDUPPER, C2C12, EPIDERMIS TISSUES, BROWNFAT, HEART, SKELETALMUSCLE, IMM.G2, TRACHEA, PROSTATE)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000030672
Chromosome 7
Coordinate 127,213,177     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 78
Allele Frequency
A:R0.44
G:V0.56
Amino Acid Change I->V (Isoleucine -> Valine)
Sample ID IGL03391
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 36 Other Mutations

 Predictions 
Polyphen Score 0.02
Polyphen Prediction Benign

 Availability Details 
Availability