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
CD40 signaling pathway
DNA binding
anti-apoptosis
cellular response to lipopolysaccharide
centrosome
cytoplasm
cytosol
negative regulation of CD40 signaling pathway
negative regulation of I-kappaB kinase/NF-kappaB cascade
negative regulation of NF-kappaB transcription factor activity
negative regulation of caspase activity
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 19,005,126     (Assembly: GRCm38)    
Ref Base C
Codon Change Gtg/Ttg
Var Base A
Zygosity Heterozygous
Read Depth 19
Allele Frequency
C:0.53
A:0.47
Amino Acid Position 398
Amino Acid Change V->L (Valine -> Leucine)
Sample ID IGL00840
Median Base Quality 39
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 34 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0.07
Sift Prediction tolerated
Druggable Yes, View known drug interactions

 Protein domains 
ENSMUSP00000019997:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Zinc finger, A20-type Znf_A20 IPR002653 ENSMUSP00000019997 Pfam 384
408 Description available Search pathways
Zinc finger, A20-type Znf_A20 IPR002653 ENSMUSP00000019997 Smart 384
409 Description available Search pathways
Zinc finger, A20-type Znf_A20 IPR002653 ENSMUSP00000019997 Prosite_profiles 381
416 Description available Search pathways

 Availability Details 
Availability Progeny Cryopreserved