Arhgef15 - SNV Details



 Gene Information 
Gene Name Arhgef15
Old Gene Names for Arhgef15 D530030k12rik
Gene Description Rho guanine nucleotide exchange factor (GEF) 15 [Source:MGI Symbol;Acc:MGI:3045246]
Uniprot Name
CCDS Name
Gene GO
GTPase activator activity
Rho guanyl-nucleotide exchange factor activity
cell projection
dendrite
guanyl-nucleotide exchange factor activity
intracellular
negative regulation of synapse maturation
protein binding
regulation of Rho protein signal transduction
Homolog in other species ARHGEF15
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.DPSM.TH, T.8EFF.SP.OT1.D6.VSVOVA, T.8MEM.LN,TGD.SP,T.4FP3+25+.SP,T.4NVE.PP)
Gnf Expression
MEDIAN(HIGH IN LUNG)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000052921
Chromosome 11
Coordinate 68,954,102     (Assembly: GRCm38)    
Ref Base A
Codon Change cTg/cAg
Var Base T
Zygosity Heterozygous
Read Depth 12
Allele Frequency
A:0.67
T:0.33
Amino Acid Position 223
Amino Acid Change L->Q (Leucine -> Glutamine)
Sample ID IGL00929
Median Base Quality 40
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 28 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved