Incidental Mutation 'R0369:Tnfaip3'
ID 30385
Institutional Source Beutler Lab
Gene Symbol Tnfaip3
Ensembl Gene ENSMUSG00000019850
Gene Name tumor necrosis factor, alpha-induced protein 3
Synonyms A20, Tnfip3, zinc finger protein A20
MMRRC Submission 038575-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0369 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 18876658-18891158 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 18882660 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 252 (Y252*)
Ref Sequence ENSEMBL: ENSMUSP00000101167 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019997] [ENSMUST00000105527] [ENSMUST00000122863] [ENSMUST00000146388]
AlphaFold Q60769
Predicted Effect probably null
Transcript: ENSMUST00000019997
AA Change: Y252*
SMART Domains Protein: ENSMUSP00000019997
Gene: ENSMUSG00000019850
AA Change: Y252*

DomainStartEndE-ValueType
Pfam:OTU 98 257 1.2e-30 PFAM
ZnF_A20 384 409 8.06e-9 SMART
low complexity region 425 436 N/A INTRINSIC
ZnF_A20 467 492 3.76e-9 SMART
ZnF_A20 503 526 4.74e-6 SMART
low complexity region 528 543 N/A INTRINSIC
ZnF_A20 589 614 6.01e-8 SMART
ZnF_A20 639 664 1.56e-6 SMART
ZnF_A20 698 723 1.68e-6 SMART
ZnF_A20 744 769 2.81e-8 SMART
Predicted Effect probably null
Transcript: ENSMUST00000105527
AA Change: Y252*
SMART Domains Protein: ENSMUSP00000101167
Gene: ENSMUSG00000019850
AA Change: Y252*

DomainStartEndE-ValueType
Pfam:OTU 98 257 7.8e-34 PFAM
ZnF_A20 384 409 8.06e-9 SMART
low complexity region 425 436 N/A INTRINSIC
ZnF_A20 467 492 3.76e-9 SMART
ZnF_A20 503 526 4.74e-6 SMART
low complexity region 528 543 N/A INTRINSIC
ZnF_A20 589 614 6.01e-8 SMART
ZnF_A20 639 664 1.56e-6 SMART
ZnF_A20 698 723 1.68e-6 SMART
ZnF_A20 744 769 2.81e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000122863
SMART Domains Protein: ENSMUSP00000116318
Gene: ENSMUSG00000019850

DomainStartEndE-ValueType
PDB:2VFJ|D 1 122 2e-83 PDB
SCOP:d1e3ha3 18 109 2e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000146388
SMART Domains Protein: ENSMUSP00000120627
Gene: ENSMUSG00000019850

DomainStartEndE-ValueType
PDB:3ZJG|B 1 87 1e-56 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154590
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154749
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 97.9%
  • 10x: 94.8%
  • 20x: 87.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was identified as a gene whose expression is rapidly induced by the tumor necrosis factor (TNF). The protein encoded by this gene is a zinc finger protein and ubiqitin-editing enzyme, and has been shown to inhibit NF-kappa B activation as well as TNF-mediated apoptosis. The encoded protein, which has both ubiquitin ligase and deubiquitinase activities, is involved in the cytokine-mediated immune and inflammatory responses. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2012]
PHENOTYPE: Homozygous null mice display runting, severe multi-organ inflammation, hypersensitivity to lipopolysaccharide and TNF, and premature death. Older mice homozygous for point mutations that disrupt deubiquitinating activity develop splenomegaly and show an increased number of myeloid cells. [provided by MGI curators]
Allele List at MGI

All alleles(4) : Targeted, knock-out(2) Targeted, other(2)

Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921528I07Rik G A 9: 114,129,077 (GRCm39) noncoding transcript Het
Aadacl2 T A 3: 59,932,143 (GRCm39) Y219* probably null Het
Adamts13 C A 2: 26,895,198 (GRCm39) D1096E probably benign Het
Adamts16 T G 13: 70,927,671 (GRCm39) K523Q possibly damaging Het
Adcy2 A G 13: 68,820,019 (GRCm39) F740S probably benign Het
Carmil1 T A 13: 24,266,003 (GRCm39) N253I probably damaging Het
Ccdc97 T C 7: 25,413,833 (GRCm39) T283A probably damaging Het
Cmpk2 G T 12: 26,527,150 (GRCm39) E380* probably null Het
Csmd3 A G 15: 47,833,543 (GRCm39) I911T probably damaging Het
Cyp2c39 T C 19: 39,502,079 (GRCm39) L156P probably damaging Het
D7Ertd443e T C 7: 133,899,866 (GRCm39) I499V possibly damaging Het
Dhx58 A C 11: 100,592,374 (GRCm39) probably null Het
Dip2a C T 10: 76,134,621 (GRCm39) G390S probably damaging Het
Dusp10 A G 1: 183,801,253 (GRCm39) D340G probably damaging Het
Epha1 A T 6: 42,342,407 (GRCm39) C314S probably damaging Het
Exph5 A T 9: 53,284,602 (GRCm39) H561L probably benign Het
Fbxw26 A G 9: 109,552,780 (GRCm39) probably null Het
Foxc1 A C 13: 31,991,495 (GRCm39) N102T probably damaging Het
Fsip2 T C 2: 82,814,908 (GRCm39) I3547T probably benign Het
Gm5464 G T 14: 67,106,774 (GRCm39) probably benign Het
Gnptab C T 10: 88,269,456 (GRCm39) R720C possibly damaging Het
Greb1l T C 18: 10,469,375 (GRCm39) V130A possibly damaging Het
Hmg20a A T 9: 56,394,934 (GRCm39) D216V probably damaging Het
Hnrnpul2 C A 19: 8,801,777 (GRCm39) D328E probably damaging Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Ift172 T C 5: 31,410,985 (GRCm39) Y1691C probably damaging Het
Kremen2 T C 17: 23,961,784 (GRCm39) D241G probably benign Het
Meis2 T C 2: 115,893,897 (GRCm39) D5G possibly damaging Het
Mrps5 G A 2: 127,433,749 (GRCm39) R46K probably benign Het
Myh14 C T 7: 44,310,374 (GRCm39) V170M probably damaging Het
Nexn T C 3: 151,953,894 (GRCm39) N123D probably benign Het
Or11g26 T A 14: 50,753,282 (GRCm39) M207K probably benign Het
Or4d11 A T 19: 12,013,765 (GRCm39) S114T probably benign Het
Or51l14 T A 7: 103,101,423 (GRCm39) I293N probably damaging Het
Pacs1 C T 19: 5,191,726 (GRCm39) V704M probably damaging Het
Papolg A G 11: 23,822,425 (GRCm39) probably null Het
Pdlim3 T C 8: 46,370,543 (GRCm39) V281A probably benign Het
Plpp4 T G 7: 128,925,190 (GRCm39) F142V probably damaging Het
Prb1a G A 6: 132,184,620 (GRCm39) Q338* probably null Het
Psg26 G T 7: 18,216,481 (GRCm39) Y119* probably null Het
Ptger4 A G 15: 5,272,491 (GRCm39) C68R probably benign Het
Ptpre T A 7: 135,272,444 (GRCm39) I399N probably damaging Het
Ripply2 A G 9: 86,898,372 (GRCm39) Y72C probably damaging Het
Rp1l1 T A 14: 64,266,837 (GRCm39) S808T possibly damaging Het
Scn5a G A 9: 119,362,838 (GRCm39) T594I probably damaging Het
Sf3b1 T C 1: 55,037,267 (GRCm39) D883G probably benign Het
Skint5 A T 4: 113,369,220 (GRCm39) probably null Het
Terf1 A G 1: 15,889,207 (GRCm39) H212R probably damaging Het
Tmco5 T G 2: 116,711,269 (GRCm39) probably null Het
Tnrc6a T A 7: 122,770,083 (GRCm39) N624K probably damaging Het
Top3a C A 11: 60,633,615 (GRCm39) R827L probably damaging Het
Unc79 G A 12: 103,055,031 (GRCm39) probably null Het
Usp20 T C 2: 30,901,116 (GRCm39) S422P probably benign Het
Utrn T C 10: 12,509,766 (GRCm39) E2402G probably benign Het
Wdr3 G A 3: 100,063,734 (GRCm39) Q181* probably null Het
Zfp536 T C 7: 37,267,373 (GRCm39) E681G probably damaging Het
Zfp91 C T 19: 12,747,438 (GRCm39) V562I possibly damaging Het
Zfp942 A T 17: 22,148,017 (GRCm39) I204N probably benign Het
Other mutations in Tnfaip3
AlleleSourceChrCoordTypePredicted EffectPPH Score
lasvegas APN 10 19,010,758 (GRCm38) unclassified probably benign
IGL00840:Tnfaip3 APN 10 18,880,874 (GRCm39) missense probably damaging 1.00
IGL00966:Tnfaip3 APN 10 18,880,885 (GRCm39) missense probably damaging 1.00
IGL01080:Tnfaip3 APN 10 18,887,403 (GRCm39) missense probably benign 0.03
IGL01736:Tnfaip3 APN 10 18,882,649 (GRCm39) missense probably damaging 1.00
IGL02318:Tnfaip3 APN 10 18,880,215 (GRCm39) missense probably benign 0.04
IGL02703:Tnfaip3 APN 10 18,882,780 (GRCm39) missense probably damaging 0.98
IGL03032:Tnfaip3 APN 10 18,880,357 (GRCm39) missense probably benign
IGL03331:Tnfaip3 APN 10 18,887,349 (GRCm39) missense possibly damaging 0.63
IGL03389:Tnfaip3 APN 10 18,880,735 (GRCm39) missense probably benign 0.03
PIT4243001:Tnfaip3 UTSW 10 18,887,322 (GRCm39) missense probably damaging 1.00
PIT4480001:Tnfaip3 UTSW 10 18,883,071 (GRCm39) missense probably benign
R0044:Tnfaip3 UTSW 10 18,887,374 (GRCm39) missense probably damaging 0.98
R0044:Tnfaip3 UTSW 10 18,887,374 (GRCm39) missense probably damaging 0.98
R0056:Tnfaip3 UTSW 10 18,881,041 (GRCm39) missense probably damaging 1.00
R0195:Tnfaip3 UTSW 10 18,881,461 (GRCm39) missense probably damaging 1.00
R0226:Tnfaip3 UTSW 10 18,878,495 (GRCm39) missense probably damaging 1.00
R0744:Tnfaip3 UTSW 10 18,878,697 (GRCm39) missense probably benign 0.09
R0833:Tnfaip3 UTSW 10 18,878,697 (GRCm39) missense probably benign 0.09
R1469:Tnfaip3 UTSW 10 18,884,017 (GRCm39) missense probably damaging 1.00
R1469:Tnfaip3 UTSW 10 18,884,017 (GRCm39) missense probably damaging 1.00
R1876:Tnfaip3 UTSW 10 18,880,682 (GRCm39) missense possibly damaging 0.81
R1902:Tnfaip3 UTSW 10 18,883,937 (GRCm39) missense probably benign 0.19
R1903:Tnfaip3 UTSW 10 18,883,937 (GRCm39) missense probably benign 0.19
R1922:Tnfaip3 UTSW 10 18,879,355 (GRCm39) missense possibly damaging 0.51
R1973:Tnfaip3 UTSW 10 18,880,252 (GRCm39) missense probably damaging 0.98
R2040:Tnfaip3 UTSW 10 18,883,900 (GRCm39) missense possibly damaging 0.89
R2513:Tnfaip3 UTSW 10 18,881,407 (GRCm39) missense probably benign 0.00
R2936:Tnfaip3 UTSW 10 18,887,357 (GRCm39) missense probably damaging 1.00
R3607:Tnfaip3 UTSW 10 18,881,350 (GRCm39) missense probably damaging 1.00
R4386:Tnfaip3 UTSW 10 18,882,758 (GRCm39) missense probably damaging 1.00
R4483:Tnfaip3 UTSW 10 18,887,375 (GRCm39) missense probably damaging 1.00
R4673:Tnfaip3 UTSW 10 18,887,580 (GRCm39) intron probably benign
R4879:Tnfaip3 UTSW 10 18,881,321 (GRCm39) missense probably benign 0.03
R5082:Tnfaip3 UTSW 10 18,881,032 (GRCm39) missense probably damaging 1.00
R5524:Tnfaip3 UTSW 10 18,883,943 (GRCm39) missense probably damaging 0.98
R6559:Tnfaip3 UTSW 10 18,882,996 (GRCm39) missense probably damaging 1.00
R6776:Tnfaip3 UTSW 10 18,881,324 (GRCm39) missense probably benign 0.02
R6853:Tnfaip3 UTSW 10 18,879,499 (GRCm39) missense probably benign
R6891:Tnfaip3 UTSW 10 18,887,417 (GRCm39) missense probably damaging 1.00
R7144:Tnfaip3 UTSW 10 18,883,029 (GRCm39) missense probably benign 0.00
R7693:Tnfaip3 UTSW 10 18,880,528 (GRCm39) missense probably benign
R8155:Tnfaip3 UTSW 10 18,880,439 (GRCm39) missense possibly damaging 0.78
R8377:Tnfaip3 UTSW 10 18,887,258 (GRCm39) missense probably damaging 1.00
R8552:Tnfaip3 UTSW 10 18,880,414 (GRCm39) missense probably damaging 1.00
R8552:Tnfaip3 UTSW 10 18,880,213 (GRCm39) missense probably damaging 0.98
R8827:Tnfaip3 UTSW 10 18,880,795 (GRCm39) missense probably damaging 0.99
R9391:Tnfaip3 UTSW 10 18,883,075 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGTATGCACACATGACTGTCCAACC -3'
(R):5'- AGGGAGCATCACAAAAGTCACCTG -3'

Sequencing Primer
(F):5'- TATGGTCAAGACTCTGAAGCC -3'
(R):5'- TCACAAAAGTCACCTGGGGTC -3'
Posted On 2013-04-24