Incidental Mutation 'R5082:Tnfaip3'
ID 387198
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 042671-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5082 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 18876658-18891158 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 18881032 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 345 (Y345C)
Ref Sequence ENSEMBL: ENSMUSP00000101167 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019997] [ENSMUST00000105527] [ENSMUST00000122863]
AlphaFold Q60769
Predicted Effect probably damaging
Transcript: ENSMUST00000019997
AA Change: Y345C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000019997
Gene: ENSMUSG00000019850
AA Change: Y345C

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 damaging
Transcript: ENSMUST00000105527
AA Change: Y345C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101167
Gene: ENSMUSG00000019850
AA Change: Y345C

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 noncoding transcript
Transcript: ENSMUST00000154590
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154749
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.3%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T A 11: 110,022,694 (GRCm39) M1015L probably benign Het
Aftph T C 11: 20,677,100 (GRCm39) S170G probably damaging Het
Aox4 C T 1: 58,270,642 (GRCm39) P274S possibly damaging Het
Ash1l G A 3: 88,873,541 (GRCm39) R108Q probably damaging Het
Aspm T A 1: 139,406,414 (GRCm39) L1767* probably null Het
Baz2b T A 2: 59,731,835 (GRCm39) K2068* probably null Het
Bcl9 A T 3: 97,117,218 (GRCm39) V492D probably damaging Het
Bicc1 G T 10: 70,776,352 (GRCm39) H782Q probably benign Het
Cabin1 T A 10: 75,574,164 (GRCm39) I640F probably damaging Het
Ccng1 A G 11: 40,643,015 (GRCm39) V144A possibly damaging Het
Cdc23 C A 18: 34,784,742 (GRCm39) V7L unknown Het
Ddx1 G T 12: 13,270,436 (GRCm39) C668* probably null Het
Dhx58 G A 11: 100,587,802 (GRCm39) S585L probably benign Het
Dnttip2 A T 3: 122,069,590 (GRCm39) K268N probably damaging Het
Ecd C T 14: 20,374,436 (GRCm39) probably null Het
Entpd1 A G 19: 40,713,473 (GRCm39) probably null Het
Erlin2 T C 8: 27,523,435 (GRCm39) V224A probably damaging Het
Exoc3l4 A G 12: 111,394,424 (GRCm39) S515G probably benign Het
Fcho1 T C 8: 72,169,829 (GRCm39) D98G possibly damaging Het
Fhod1 T A 8: 106,057,145 (GRCm39) D943V probably damaging Het
Gm10322 A T 10: 59,452,090 (GRCm39) E69V possibly damaging Het
Gm14295 T A 2: 176,499,210 (GRCm39) L19* probably null Het
Gm7347 T A 5: 26,262,372 (GRCm39) R50* probably null Het
Hesx1 T C 14: 26,722,731 (GRCm39) C19R probably benign Het
Hgh1 T A 15: 76,253,752 (GRCm39) F199L probably benign Het
Irak2 T C 6: 113,649,805 (GRCm39) F147L probably damaging Het
Kif22 G A 7: 126,632,549 (GRCm39) R254C possibly damaging Het
Klhl9 A T 4: 88,639,622 (GRCm39) S206R probably damaging Het
Maip1 T C 1: 57,451,010 (GRCm39) probably null Het
Mcm9 T A 10: 53,414,156 (GRCm39) E308V possibly damaging Het
Mfsd13b A T 7: 120,598,201 (GRCm39) N369I possibly damaging Het
Mga T A 2: 119,733,825 (GRCm39) H224Q probably damaging Het
Mtss1 A T 15: 58,842,868 (GRCm39) W115R probably damaging Het
Myo3b T C 2: 70,088,374 (GRCm39) V851A probably benign Het
Nectin2 A T 7: 19,472,049 (GRCm39) D113E probably damaging Het
Notch2 G A 3: 98,007,690 (GRCm39) C480Y probably damaging Het
Or6b6 G A 7: 106,570,871 (GRCm39) R227C probably benign Het
Or8b55 T C 9: 38,727,441 (GRCm39) I214T possibly damaging Het
Pfdn1 G T 18: 36,537,466 (GRCm39) N111K probably damaging Het
Pfkl A T 10: 77,832,242 (GRCm39) V283E probably damaging Het
Plbd2 G T 5: 120,629,249 (GRCm39) S305* probably null Het
Prom1 T C 5: 44,158,174 (GRCm39) probably null Het
Ptbp2 T A 3: 119,546,613 (GRCm39) M90L probably benign Het
Rai1 G A 11: 60,076,745 (GRCm39) E270K possibly damaging Het
Rbbp6 G A 7: 122,599,925 (GRCm39) probably benign Het
Reln T C 5: 22,101,075 (GRCm39) M3399V probably benign Het
Ros1 T A 10: 52,040,037 (GRCm39) Y318F possibly damaging Het
Sh2d2a A G 3: 87,759,091 (GRCm39) D231G probably benign Het
Smn1 T C 13: 100,273,890 (GRCm39) probably benign Het
Snrnp200 C T 2: 127,068,290 (GRCm39) Q877* probably null Het
Taf2 G T 15: 54,923,441 (GRCm39) H279N probably benign Het
Vmn2r68 C T 7: 84,883,076 (GRCm39) M225I probably benign Het
Vps13a A T 19: 16,722,257 (GRCm39) W352R probably damaging 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
R0369:Tnfaip3 UTSW 10 18,882,660 (GRCm39) nonsense probably null
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
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'- GCATAAAGGCTGAGTGTTCACG -3'
(R):5'- ATGGTGACAGGAAGTGCCTC -3'

Sequencing Primer
(F):5'- CTGAGTGTTCACGGACATGAAG -3'
(R):5'- CTGGATGTGTCCTGTCATAAGCC -3'
Posted On 2016-06-06