Plekhg6 - SNV Details



 Gene Information 
Gene Name Plekhg6
Old Gene Names for Plekhg6 Bc026778 , Gm155
Gene Description pleckstrin homology domain containing, family G (with RhoGef domain) member 6 [Source:MGI Symbol;Acc:MGI:2682298]
Uniprot Name
CCDS Name
Gene GO
cleavage furrow; cytoplasm; intracellular; Rho guanyl-nucleotide exchange factor activity; protein binding; GTPase activator activity; cellular_component; regulation of Rho protein signal transduction; spindle pole; biological_process; phospholipid binding; molecular_function
Homolog in other species PLEKHG6
Omim http://omim.org/entry/611743
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
LOW/MEDIAN(HIGH IN LARGEINTESTINE, SMALLINTESTINE)
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000038167
Chromosome 6
Coordinate 125,377,379     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 22
Allele Frequency
T:R0.55
C:V0.46
Amino Acid Change Disrupted splicing
Splice Position 3
Sample ID IGL02604
Median Base Quality 34.5
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 53 Other Mutations

 Predictions 

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved