Rapgef5 - SNV Details



 Gene Information 
Gene Name Rapgef5
Old Gene Names for Rapgef5 D030051b22rik , Mrgef , C86120
Gene Description Rap guanine nucleotide exchange factor (GEF) 5 [Source:MGI Symbol;Acc:MGI:2444365]
Uniprot Name
CCDS Name
Gene GO
intracellular signal transduction; regulation of small GTPase mediated signal transduction; GTP-dependent protein binding; Rap guanyl-nucleotide exchange factor activity; intracellular; small GTPase mediated signal transduction; guanyl-nucleotide exchange factor activity; nucleus
Homolog in other species RAPGEF5
Immgen Expression
MEDIAN(HIGHER IN BCELL GROUP)
Gnf Expression
MEDIAN(HIGH IN NS GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000041992
Chromosome 12
Coordinate 117,721,380     (Assembly: GRCm38)    
Ref Base C
Codon Change aCa/aAa
Var Base A
Zygosity Heterozygous
Read Depth 29
Allele Frequency
C:R0.45
A:V0.55
Amino Acid Position 522
Amino Acid Change T->K (Threonine -> Lysine)
Sample ID IGL01405
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 30 Other Mutations

 Predictions 
Polyphen Score 0.49
Polyphen Prediction Possibly damaging
Sift Score 0.57
Sift Prediction tolerated

 Protein domains 
ENSMUSP00000105313:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Ras guanine nucleotide exchange factor, domain Ras_GEF_dom IPR023578 ENSMUSP00000105313 Superfamily 261
813 Description available Search pathways

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved