Frmpd1 - SNV Details



 Gene Information 
Gene Name Frmpd1
Old Gene Names for Frmpd1 Bc031840
Gene Description FERM and PDZ domain containing 1 [Source:MGI Symbol;Acc:MGI:2446274]
Uniprot Name
CCDS Name
Gene GO
cytoplasm; signal transduction; protein binding; cytosol; cytoskeleton; plasma membrane; biological_process; molecular_function
Homolog in other species FRMPD1
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
LOW/MEDIAN(HIGH IN C2C12, M1)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000035615
Chromosome 4
Coordinate 45,285,160     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 14
Allele Frequency
A:R0.36
G:V0.64
Amino Acid Change D->G (Aspartic acid -> Glycine)
Sample ID IGL02586
Median Base Quality 36.5
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 39 Other Mutations

 Predictions 
Polyphen Score 0.96
Polyphen Prediction Probably damaging

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved