Incidental Mutation 'R1973:Tnfaip3'
ID 221272
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 039986-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1973 (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 18880252 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 605 (N605S)
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: N605S

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000019997
Gene: ENSMUSG00000019850
AA Change: N605S

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: N605S

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000101167
Gene: ENSMUSG00000019850
AA Change: N605S

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: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.9%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b A C 5: 8,862,746 (GRCm39) I143L probably benign Het
Acp7 T A 7: 28,307,414 (GRCm39) D481V probably damaging Het
AI597479 T A 1: 43,150,286 (GRCm39) I132K probably benign Het
Anxa13 T C 15: 58,228,030 (GRCm39) noncoding transcript Het
Brca1 A T 11: 101,417,229 (GRCm39) C302S probably benign Het
Brd8 T A 18: 34,741,066 (GRCm39) D420V probably damaging Het
Cacna1g A T 11: 94,350,603 (GRCm39) V414E possibly damaging Het
Ccdc142 T A 6: 83,079,544 (GRCm39) C294S probably benign Het
Cdh20 G A 1: 109,988,862 (GRCm39) V255I probably benign Het
Chat C T 14: 32,146,148 (GRCm39) V342I probably benign Het
Chd6 A G 2: 160,808,307 (GRCm39) S1636P probably damaging Het
Clec4a1 A G 6: 122,901,793 (GRCm39) probably null Het
Col6a3 A T 1: 90,731,897 (GRCm39) I1452N probably damaging Het
Dennd2c T C 3: 103,039,014 (GRCm39) V54A probably benign Het
Dnah1 C T 14: 30,987,348 (GRCm39) W3550* probably null Het
Efl1 T C 7: 82,412,085 (GRCm39) S825P probably damaging Het
Entrep2 A T 7: 64,425,516 (GRCm39) I192N possibly damaging Het
Faxc G A 4: 21,993,405 (GRCm39) E350K probably benign Het
Frem2 T A 3: 53,559,653 (GRCm39) Y1618F probably benign Het
Fubp3 A G 2: 31,493,298 (GRCm39) T6A probably benign Het
Gm5814 A T 17: 47,721,474 (GRCm39) M63L probably benign Het
Gpr149 T C 3: 62,438,216 (GRCm39) K647R probably benign Het
Iqgap3 T A 3: 87,991,235 (GRCm39) probably null Het
Kcnh3 T C 15: 99,127,281 (GRCm39) V359A probably damaging Het
Kit G A 5: 75,776,102 (GRCm39) A295T probably damaging Het
Krt77 G T 15: 101,769,679 (GRCm39) A397E probably damaging Het
Mis18bp1 G C 12: 65,195,850 (GRCm39) S638* probably null Het
Neurl4 C T 11: 69,800,118 (GRCm39) P1091S probably benign Het
Nod2 A T 8: 89,379,501 (GRCm39) M8L probably damaging Het
Nos1 A G 5: 118,074,491 (GRCm39) T1046A possibly damaging Het
Nsfl1c G T 2: 151,347,334 (GRCm39) S202I probably damaging Het
Nuak2 A T 1: 132,258,340 (GRCm39) H257L probably damaging Het
Nwd1 T C 8: 73,431,590 (GRCm39) V1195A possibly damaging Het
Or10k2 T C 8: 84,268,421 (GRCm39) V216A probably benign Het
Or2ag12 T C 7: 106,277,426 (GRCm39) D89G probably benign Het
Or52a20 T A 7: 103,365,804 (GRCm39) M1K probably null Het
Or8b40 T A 9: 38,027,863 (GRCm39) M257K possibly damaging Het
Or8g51 A G 9: 38,609,164 (GRCm39) V170A probably damaging Het
Pclo G T 5: 14,726,073 (GRCm39) probably null Het
Pnpla7 A G 2: 24,906,629 (GRCm39) D664G probably damaging Het
Prl8a1 G A 13: 27,760,917 (GRCm39) T105I probably benign Het
Ptger1 C A 8: 84,396,083 (GRCm39) T380K probably benign Het
Ptk7 G A 17: 46,897,733 (GRCm39) Q282* probably null Het
Ptpn18 G T 1: 34,502,190 (GRCm39) D45Y probably damaging Het
Rab11fip3 T C 17: 26,243,365 (GRCm39) D589G probably damaging Het
Rara A G 11: 98,862,496 (GRCm39) N299S possibly damaging Het
Rpl13a T A 7: 44,775,419 (GRCm39) K368* probably null Het
Rslcan18 T C 13: 67,256,087 (GRCm39) probably benign Het
Rtel1 A G 2: 180,993,419 (GRCm39) Y731C probably benign Het
Sec16a A T 2: 26,316,501 (GRCm39) S1666R probably damaging Het
Sis A G 3: 72,828,337 (GRCm39) F1217S probably damaging Het
Slc10a7 T A 8: 79,423,962 (GRCm39) probably null Het
Slc22a7 A G 17: 46,748,016 (GRCm39) V214A probably damaging Het
Slc26a8 T C 17: 28,882,579 (GRCm39) I249V probably benign Het
Slc38a4 T C 15: 96,897,478 (GRCm39) K446E probably benign Het
Sned1 G A 1: 93,192,795 (GRCm39) G361S probably damaging Het
Spef2 T G 15: 9,663,152 (GRCm39) *876C probably null Het
Spink11 A G 18: 44,329,205 (GRCm39) C14R unknown Het
Stk4 C T 2: 163,942,448 (GRCm39) T360M probably benign Het
Trpc1 A G 9: 95,605,308 (GRCm39) M283T probably benign Het
Ttn A G 2: 76,544,706 (GRCm39) S32799P probably damaging Het
Ttn A G 2: 76,550,443 (GRCm39) I31613T probably damaging Het
Ugt1a10 A T 1: 87,983,769 (GRCm39) Y189F probably damaging Het
Usp32 G T 11: 84,994,757 (GRCm39) L52I probably benign Het
Usp33 A G 3: 152,065,923 (GRCm39) T68A possibly damaging Het
Vmn1r7 A G 6: 57,002,011 (GRCm39) F83S probably benign Het
Vmn2r5 C T 3: 64,411,642 (GRCm39) E309K probably damaging Het
Vps26c T C 16: 94,302,405 (GRCm39) N267S probably damaging Het
Wdr43 A G 17: 71,947,235 (GRCm39) N364D probably benign Het
Zdbf2 C A 1: 63,348,860 (GRCm39) P2413Q unknown 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
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'- TAGAGCCCATGGTAACTAGAGC -3'
(R):5'- TCACCAACGCTCCAAGTCTG -3'

Sequencing Primer
(F):5'- CATGGTAACTAGAGCTGCTGTCTAC -3'
(R):5'- CGCTCCAAGTCTGACCCC -3'
Posted On 2014-08-25