Arhgef12 - SNV Details



 Gene Information 
Gene Name Arhgef12
Old Gene Names for Arhgef12 2310014b11rik , Au019857
Gene Description Rho guanine nucleotide exchange factor (GEF) 12 [Source:MGI Symbol;Acc:MGI:1916882]
MGI phenotype Mice homozygous for a null allele exhibit decreased sensitivity to certain vasoconstrictors and resistance to salt-induced hypertension.
Uniprot Name
CCDS Name
Gene GO
intracellular signal transduction; membrane; termination of G-protein coupled receptor signaling pathway; cytoplasm; positive regulation of GTPase activity; Rho guanyl-nucleotide exchange factor activity; protein binding; GTPase activator activity; extracellular vesicular exosome; regulation of Rho protein signal transduction; G-protein coupled receptor signaling pathway; G-protein coupled receptor binding; regulation of Rho GTPase activity
Homolog in other species ARHGEF12
Omim http://omim.org/entry/604763
Immgen Expression
MEDIAN(HIGHER IN BCELL GROUP)
MEDIAN(LOW IN GN.BM)
Gnf Expression
HIGH(LOWER IN PANCREAS, IMM.G3, SPLEEN)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000059495
Chromosome 9
Coordinate 42,999,077     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 141
Allele Frequency
T:R0.56
C:V0.44
Amino Acid Change D->G (Aspartic acid -> Glycine)
Sample ID IGL02992
Median Base Quality 38
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 48 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability Progeny Cryopreserved