Plekhg3 - SNV Details



 Gene Information 
Gene Name Plekhg3
Old Gene Names for Plekhg3 Bc030417
Gene Description pleckstrin homology domain containing, family G (with RhoGef domain) member 3 [Source:MGI Symbol;Acc:MGI:2388284]
Uniprot Name
CCDS Name
Gene GO
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 PLEKHG3
Immgen Expression
MEDIAN(HIGH IN GN.BM)
Gnf Expression
MEDIAN(HIGH IN M1)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000052609
Chromosome 12
Coordinate 76,578,245     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 13
Allele Frequency
A:R0.38
G:V0.62
Amino Acid Change E->G (Glutamic acid -> Glycine)
Sample ID IGL02570
Median Base Quality 37
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 27 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved