Myof - SNV Details



 Gene Information 
Gene Name Myof
Old Gene Names for Myof E030042n20rik , Fer1l3 , 2310051d19rik
Gene Description myoferlin [Source:MGI Symbol;Acc:MGI:1919192]
Uniprot Name
CCDS Name
Gene GO
cytoplasmic vesicle membrane; caveola; integral to membrane; regulation of vascular endothelial growth factor receptor signaling pathway; intracellular membrane-bounded organelle; cellular response to heat; protein binding; cytoplasmic vesicle; plasma membrane; plasma membrane repair; phospholipid binding; nuclear membrane
Homolog in other species MYOF
Omim http://omim.org/entry/604603
Immgen Expression
LOW(HIGH IN MYELOID GOUP, DC8+.TH, DC.LC.SK)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000048612
Chromosome 19
Coordinate 37,937,913     (Assembly: GRCm38)    
Ref Base G
Var Base T
Zygosity Heterozygous
Read Depth 10
Allele Frequency
G:R0.40
T:V0.60
Amino Acid Change Y->Stop (Tyrosine -> Stop)
Sample ID IGL02481
Median Base Quality 40.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 53 Other Mutations

 Predictions 
Polyphen Prediction N/A

 Availability Details 
Availability Progeny Cryopreserved