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; regulation of vascular endothelial growth factor receptor signaling pathway; intracellular membrane-bounded organelle; cellular response to heat; protein binding; integral component of membrane; extracellular vesicular exosome; 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 37,921,481     (Assembly: GRCm38)    
Ref Base C
Var Base A
Zygosity Heterozygous
Read Depth 37
Allele Frequency
C:R0.43
A:V0.57
Amino Acid Change R->L (Arginine -> Leucine)
Sample ID IGL02682
Median Base Quality 40
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 41 Other Mutations

 Predictions 
Polyphen Score 0.12
Polyphen Prediction Benign

 Availability Details 
Availability Cryopreserved