Arhgef40 - SNV Details



 Gene Information 
Gene Name Arhgef40
Old Gene Names for Arhgef40 Gm669 , E130112l23rik
Gene Description Rho guanine nucleotide exchange factor (GEF) 40 [Source:MGI Symbol;Acc:MGI:2685515]
Uniprot Name
CCDS Name
Gene GO
cytoplasm; intracellular; Rho guanyl-nucleotide exchange factor activity; protein binding; cellular_component; regulation of Rho protein signal transduction; biological_process; phospholipid binding; molecular_function
Homolog in other species ARHGEF40
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000004562
Chromosome 14
Coordinate 52,000,863     (Assembly: GRCm38)    
Ref Base A
Var Base T
Zygosity Heterozygous
Read Depth 36
Allele Frequency
A:R0.47
T:V0.53
Amino Acid Change E->D (Glutamic acid -> Aspartic acid)
Sample ID IGL02505
Median Base Quality 38.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 70 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability Progeny Cryopreserved