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
CCDS 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
Omim http://omim.org/entry/191163
Immgen Expression
MEDIAN(HIGHER IN DC.LC.SK)
Gnf Expression
LOW/MEDIAN(HIGH IN IMM GROUP, OSTEO GROUP, SPLEEN, TRACHEA, LUNG, ADIPOSETISSUE)
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
T:R0.55
C:V0.46
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

 Predictions 
Polyphen Score 0.01
Polyphen Prediction Benign

 Availability Details 
Availability Cryopreserved