Sos2 - SNV Details



 Gene Information 
Gene Name Sos2
Gene Description son of sevenless homolog 2 (Drosophila) [Source:MGI Symbol;Acc:MGI:98355]
MGI phenotype Mice homozygous for a targeted null mutation exhibit no discernable phenotype; mice are viable and fertile with normal embryonic and adult histopathology.
Uniprot Name
CCDS Name
Gene GO
positive regulation of small GTPase mediated signal transduction; regulation of GTPase activity; regulation of small GTPase mediated signal transduction; intracellular; DNA binding; small GTPase mediated signal transduction; Rho guanyl-nucleotide exchange factor activity; protein binding; guanyl-nucleotide exchange factor activity; regulation of Ras GTPase activity; regulation of Rho protein signal transduction; regulation of Rho GTPase activity; Ras guanyl-nucleotide exchange factor activity; protein heterodimerization activity
Homolog in other species SOS2
Omim http://omim.org/entry/601247
Immgen Expression
MEDIAN(HIGH IN TGD GROUP, NK GROUP, T.8EFF.SP.OT1.D6.VSVOVA, T.4MEM.SP)
Gnf Expression
HIGH(LOWER IN TESTIS, FERTILIZEDEGG, OOCYTE, LIVER, EMB GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000034801
Chromosome 12
Coordinate 69,596,666     (Assembly: GRCm38)    
Ref Base A
Codon Change tTa/tCa
Var Base G
Zygosity Heterozygous
Read Depth 40
Allele Frequency
A:R0.42
G:V0.57
Amino Acid Position 979
Amino Acid Change L->S (Leucine -> Serine)
Sample ID IGL02684
Median Base Quality 39
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 33 Other Mutations

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

 Protein domains 
ENSMUSP00000044866:
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 ENSMUSP00000044866 Superfamily 564
1044 Description available Search pathways
Guanine-nucleotide dissociation stimulator CDC25 RasGRF_CDC25 IPR001895 ENSMUSP00000044866 Smart 774
1018 Description available Search pathways
Guanine-nucleotide dissociation stimulator CDC25 RasGRF_CDC25 IPR001895 ENSMUSP00000044866 Prosite_profiles 778
1017 Description available Search pathways

 Availability Details 
Availability Cryopreserved