Ralgds - SNV Details



 Gene Information 
Gene Name Ralgds
Old Gene Names for Ralgds Rgds
Gene Description ral guanine nucleotide dissociation stimulator [Source:MGI Symbol;Acc:MGI:107485]
MGI phenotype Homozygous mutant mice exhibit reduced tumor incidence, size and progression to malignancy in multistage skin carcinogenesis.
Uniprot Name
CCDS Name
Gene GO
regulation of small GTPase mediated signal transduction; signal transduction; intracellular; small GTPase mediated signal transduction; protein binding; guanyl-nucleotide exchange factor activity; small GTPase regulator activity
Homolog in other species RALGDS
Omim http://omim.org/entry/601619
Immgen Expression
MEDIAN(HIGHER IN BCELL GROUP)
Gnf Expression
MEDIAN/HIGH(LOWER IN TESTIS, FERTILIZEDEGG, OOCYTE, KIDNEY, LIVER, SPLEEN, THYROID)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000026821
Chromosome 2
Coordinate 28,550,542     (Assembly: GRCm38)    
Ref Base C
Codon Change Cag/Tag
Var Base T
Zygosity Heterozygous
Read Depth 12
Allele Frequency
C:R0.42
T:V0.58
Amino Acid Position 788
Amino Acid Change Q->Stop (Glutamine -> Stop)
Sample ID IGL01774
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 37 Other Mutations

 Predictions 
Polyphen Prediction N/A

 Protein domains 
ENSMUSP00000028170:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Ras-association Ras-assoc IPR000159 ENSMUSP00000028170 Prosite_profiles 736
823 Description available Search pathways
Ras-association Ras-assoc IPR000159 ENSMUSP00000028170 Pfam 736
822 Description available Search pathways
Ras-association Ras-assoc IPR000159 ENSMUSP00000028170 Smart 736
823 Description available Search pathways

 Availability Details 
Availability Cryopreserved