Vav1 - SNV Details



 Gene Information 
Gene Name Vav1
Gene Description vav 1 oncogene [Source:MGI Symbol;Acc:MGI:98923]
MGI phenotype Homozygous null mutants exhibit defective T cell maturation, interleukin-2 production, and cell cycle progression. Immunoglobulin class switching is also impaired and attributed to defective T cell help.
Uniprot Name
CCDS Name
Gene GO
intracellular signal transduction; regulation of GTPase activity; metal ion binding; immune response; Rac guanyl-nucleotide exchange factor activity; intracellular; Rho guanyl-nucleotide exchange factor activity; protein binding; cytosol; regulation of Rho protein signal transduction; phagocytosis; integrin-mediated signaling pathway; T cell activation; phospholipid binding; positive regulation of cell adhesion; T cell differentiation
Homolog in other species VAV1
Omim http://omim.org/entry/164875
Immgen Expression
HIGH
Gnf Expression
LOW/MEDIAN(HIGH IN IMM GROUP, OSTEO GROUP, SPLEEN, TRACHEA, LUNG, ADIPOSETISSUE)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000034116
Chromosome 17
Coordinate 57,307,067     (Assembly: GRCm38)    
Ref Base T
Codon Change Ttt/Ctt
Var Base C
Zygosity Heterozygous
Read Depth 142
Allele Frequency
T:R0.46
C:V0.54
Amino Acid Position 626
Amino Acid Change F->L (Phenylalanine -> Leucine)
Sample ID IGL01613
Median Base Quality 35
Backgrounds Balb/c:C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 49 Other Mutations

 Predictions 
Polyphen Score 0.38
Polyphen Prediction Benign
Sift Score 0
Sift Prediction deleterious

 Protein domains 
ENSMUSP00000126694:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Src homology-3 domain SH3_domain IPR001452 ENSMUSP00000126694 Smart 571
635 Description available Search pathways
Src homology-3 domain SH3_domain IPR001452 ENSMUSP00000126694 Superfamily 559
636 Description available Search pathways
Variant SH3 domain SH3_2 IPR011511 ENSMUSP00000126694 Pfam 584
631 Description available Search pathways
Src homology-3 domain SH3_domain IPR001452 ENSMUSP00000126694 Prosite_profiles 593
636 Description available Search pathways
Src homology-3 domain SH3_domain IPR001452 ENSMUSP00000126694 Pfam 593
628 Description available Search pathways

 Availability Details 
Availability Cryopreserved