Tnfaip3 - SNV Details

 Gene Information 
Gene Name Tnfaip3
Old Gene Names for Tnfaip3 Tnfip3
Gene Description tumor necrosis factor, alpha-induced protein 3 [Source:MGI Symbol;Acc:MGI:1196377]
MGI phenotype Homozygous null mice display partial postnatal lethality, runting, and severe inflammation in the liver, kidneys, joints, intestines, and bone marrow.
Uniprot Name
Gene GO
negative regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway; negative regulation of B cell activation; response to muramyl dipeptide; positive regulation of hepatocyte proliferation; negative regulation of smooth muscle cell proliferation; protein K48-linked ubiquitination; ubiquitin-protein transferase activity; negative regulation of CD40 signaling pathway; negative regulation of extrinsic apoptotic signaling pathway via death domain receptors; response to molecule of bacterial origin; ubiquitin thiolesterase activity; negative regulation of I-kappaB kinase/NF-kappaB signaling; regulation of germinal center formation; apoptotic process; negative regulation of inflammatory response; marginal zone B cell differentiation; protease binding; cytoplasm; negative regulation of NF-kappaB transcription factor activity; negative regulation of toll-like receptor 3 signaling pathway; zinc ion binding; regulation of immunoglobulin production; negative regulation of endothelial cell apoptotic process; DNA binding; ubiquitin binding; negative regulation of toll-like receptor 5 signaling pathway; positive regulation of protein catabolic process; negative regulation of cell death; lysosome; regulation of innate immune response; B-1 B cell homeostasis; protein binding; inflammatory response; negative regulation of interleukin-1 beta production; kinase binding; nucleus; negative regulation of autophagy; protein K48-linked deubiquitination; protein self-association; cellular response to lipopolysaccharide; extracellular vesicular exosome; negative regulation of interleukin-6 production; negative regulation of innate immune response; ubiquitin-specific protease activity; negative regulation of interleukin-2 production; response to wounding; negative regulation of granuloma formation; protein K11-linked deubiquitination; cellular response to hydrogen peroxide; negative regulation of protein ubiquitination; proteolysis; protein deubiquitination; tolerance induction to lipopolysaccharide; negative regulation of tumor necrosis factor production; negative regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway; ligase activity; protein K63-linked deubiquitination; negative regulation of chronic inflammatory response; negative regulation of cyclin-dependent protein serine/threonine kinase activity; centrosome; negative regulation of heterotypic cell-cell adhesion
Homolog in other species TNFAIP3
Immgen Expression
Gnf Expression
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000019850
Chromosome 10
Coordinate 19,004,987     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 11
Allele Frequency
Amino Acid Change E->G (Glutamic acid -> Glycine)
Sample ID IGL03389
Median Base Quality 35
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 37 Other Mutations

Polyphen Score 0.01
Polyphen Prediction Benign

 Availability Details 
Availability Cryopreserved