Incidental Mutation 'IGL00966:Tnfaip3'
ID 28406
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tnfaip3
Ensembl Gene ENSMUSG00000019850
Gene Name tumor necrosis factor, alpha-induced protein 3
Synonyms A20, Tnfip3, zinc finger protein A20
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00966
Quality Score
Status
Chromosome 10
Chromosomal Location 18876658-18891158 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 18880885 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 394 (F394S)
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: F394S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000019997
Gene: ENSMUSG00000019850
AA Change: F394S

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: F394S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101167
Gene: ENSMUSG00000019850
AA Change: F394S

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
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad11 A G 9: 104,003,855 (GRCm39) E649G probably damaging Het
Adgre1 C A 17: 57,726,335 (GRCm39) T402K probably benign Het
Agap3 A G 5: 24,706,000 (GRCm39) probably benign Het
Amy1 T C 3: 113,349,689 (GRCm39) I494V probably benign Het
Arhgef40 G A 14: 52,229,155 (GRCm39) probably null Het
Atp2c2 T C 8: 120,472,329 (GRCm39) V461A probably benign Het
Bub1 A G 2: 127,652,583 (GRCm39) S595P probably damaging Het
Cdcp3 T A 7: 130,844,836 (GRCm39) Y692* probably null Het
Cmya5 C T 13: 93,234,414 (GRCm39) V225I probably benign Het
Cnbd1 T C 4: 18,906,988 (GRCm39) probably benign Het
Cux1 A T 5: 136,340,345 (GRCm39) probably benign Het
Dsg3 T A 18: 20,656,664 (GRCm39) I178N probably benign Het
Dus2 T A 8: 106,752,533 (GRCm39) probably null Het
Enpp1 G A 10: 24,529,929 (GRCm39) H570Y probably damaging Het
Ephb3 A C 16: 21,036,044 (GRCm39) T57P probably benign Het
Fat3 C A 9: 15,910,390 (GRCm39) V1871F possibly damaging Het
Fbll1 T C 11: 35,688,874 (GRCm39) T130A probably benign Het
Fbxl20 C T 11: 98,001,800 (GRCm39) S99N probably damaging Het
Folr2 T C 7: 101,489,593 (GRCm39) E182G probably damaging Het
Fras1 A G 5: 96,703,080 (GRCm39) D281G probably benign Het
Gm17175 G T 14: 51,810,526 (GRCm39) Q34K possibly damaging Het
Gm5592 T A 7: 40,938,519 (GRCm39) D600E probably damaging Het
Gtf2e1 T C 16: 37,336,092 (GRCm39) E294G probably benign Het
Gtf3c2 A G 5: 31,327,517 (GRCm39) probably benign Het
Heg1 T C 16: 33,530,977 (GRCm39) L151P probably damaging Het
Hmcn2 T G 2: 31,319,006 (GRCm39) V3902G probably damaging Het
Ift140 A G 17: 25,237,776 (GRCm39) Y4C probably damaging Het
Ighv1-19 A C 12: 114,672,569 (GRCm39) V17G possibly damaging Het
Iqca1 T A 1: 89,973,379 (GRCm39) I770F probably benign Het
Jak3 T A 8: 72,131,656 (GRCm39) C115S probably benign Het
Kif18b A T 11: 102,805,501 (GRCm39) M252K probably damaging Het
Klhdc7a A T 4: 139,694,236 (GRCm39) V237D probably benign Het
Klhl11 C T 11: 100,354,031 (GRCm39) V597I possibly damaging Het
Krt72 T A 15: 101,689,396 (GRCm39) Y312F probably damaging Het
Lonp2 T A 8: 87,360,600 (GRCm39) I191N probably damaging Het
Npc2 A T 12: 84,819,619 (GRCm39) I8N possibly damaging Het
Nr4a1 T C 15: 101,170,669 (GRCm39) L413P probably damaging Het
Nup133 T C 8: 124,638,645 (GRCm39) N895S probably damaging Het
Or7e175 T C 9: 20,048,531 (GRCm39) F40L probably benign Het
Ppef1 A G X: 159,468,290 (GRCm39) I94T probably benign Het
Prrt4 G A 6: 29,176,455 (GRCm39) T290I probably benign Het
Ptpru A T 4: 131,499,927 (GRCm39) V1239E probably damaging Het
Rab8b T G 9: 66,760,274 (GRCm39) M117L probably benign Het
S1pr5 T A 9: 21,155,512 (GRCm39) I305F possibly damaging Het
Sdr39u1 A G 14: 56,135,463 (GRCm39) V160A probably damaging Het
Slc6a21 C T 7: 44,937,668 (GRCm39) T653M probably benign Het
Stk39 T A 2: 68,042,302 (GRCm39) E544D probably benign Het
Tgfbr3 T C 5: 107,290,367 (GRCm39) T313A probably benign Het
Tle6 A T 10: 81,430,292 (GRCm39) L287M probably damaging Het
Tmc2 A G 2: 130,105,932 (GRCm39) H821R probably benign Het
Tmem230 G T 2: 132,087,897 (GRCm39) D26E probably benign Het
Ttn T A 2: 76,641,721 (GRCm39) L13458F probably damaging Het
Vwa5a A T 9: 38,634,675 (GRCm39) N161I probably benign Het
Wdr87-ps C A 7: 29,236,888 (GRCm39) noncoding transcript 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
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
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
Posted On 2013-04-17