Arhgef10 - SNV Details



 Human Rare Diseases 
Autosomal dominant slowed nerve conduction velocity

 Gene Information 
Gene Name Arhgef10
Old Gene Names for Arhgef10 6430549h08rik
Gene Description Rho guanine nucleotide exchange factor (GEF) 10 [Source:MGI Symbol;Acc:MGI:2444453]
Uniprot Name
CCDS Name
Gene GO
centrosome duplication; myelination in peripheral nervous system; intracellular; positive regulation of GTP catabolic process; Rho guanyl-nucleotide exchange factor activity; spindle assembly involved in mitosis; protein binding; regulation of Rho protein signal transduction; centrosome; positive regulation of stress fiber assembly; kinesin binding
Homolog in other species ARHGEF10
Omim http://omim.org/entry/608136
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
MEDIAN/HIGH(LOWER IN TESTIS, FERTILIZEDEGG, OOCYTE, KIDNEY, LIVER, SPLEEN, THYROID)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000071176
Chromosome 8
Coordinate 14,961,238     (Assembly: GRCm38)    
Ref Base G
Codon Change Gaa/Aaa
Var Base A
Zygosity Heterozygous
Read Depth 37
Allele Frequency
G:R0.41
A:V0.60
Amino Acid Position 593
Amino Acid Change E->K (Glutamic acid -> Lysine)
Sample ID IGL02500
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 46 Other Mutations

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

 Protein domains 
ENSMUSP00000081225:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Dbl homology (DH) domain DH-domain IPR000219 ENSMUSP00000081225 Superfamily 377
602 Description available Search pathways

 Availability Details 
Availability Progeny Cryopreserved