Incidental Mutation 'IGL01736:Tnfaip3'
ID 105693
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 # IGL01736
Quality Score
Status
Chromosome 10
Chromosomal Location 18876658-18891158 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 18882649 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 256 (H256R)
Ref Sequence ENSEMBL: ENSMUSP00000101167 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019997] [ENSMUST00000105527] [ENSMUST00000122863] [ENSMUST00000146388]
AlphaFold Q60769
Predicted Effect probably damaging
Transcript: ENSMUST00000019997
AA Change: H256R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000019997
Gene: ENSMUSG00000019850
AA Change: H256R

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: H256R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101167
Gene: ENSMUSG00000019850
AA Change: H256R

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
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb A G 5: 114,326,503 (GRCm39) T290A possibly damaging Het
Apip G A 2: 102,917,486 (GRCm39) V62M probably damaging Het
Appbp2 T C 11: 85,105,143 (GRCm39) K141R possibly damaging Het
Arhgef18 T A 8: 3,501,624 (GRCm39) probably benign Het
B3galt2 A G 1: 143,522,583 (GRCm39) T240A probably benign Het
Bivm A T 1: 44,180,973 (GRCm39) N385I probably damaging Het
Brd4 A T 17: 32,417,649 (GRCm39) probably benign Het
Cage1 T C 13: 38,206,789 (GRCm39) D352G possibly damaging Het
Ceacam10 A G 7: 24,480,535 (GRCm39) Y102C probably damaging Het
Diaph3 T C 14: 87,156,282 (GRCm39) D677G probably benign Het
Dis3l T C 9: 64,226,536 (GRCm39) probably null Het
Dnah6 C T 6: 73,165,360 (GRCm39) V582M probably benign Het
Fndc3b A G 3: 27,521,552 (GRCm39) L541P probably damaging Het
Folh1 T C 7: 86,391,444 (GRCm39) T384A possibly damaging Het
Gdpd3 T C 7: 126,365,695 (GRCm39) L18P probably damaging Het
Grxcr2 T A 18: 42,132,047 (GRCm39) K7N probably damaging Het
Gulo A G 14: 66,234,325 (GRCm39) F246L probably benign Het
Inpp4b A T 8: 82,723,968 (GRCm39) D500V probably benign Het
Ints4 C T 7: 97,175,849 (GRCm39) L647F probably benign Het
Kif17 T A 4: 138,013,876 (GRCm39) L264Q possibly damaging Het
Kif21a T C 15: 90,843,948 (GRCm39) N1104S possibly damaging Het
Ly6e T G 15: 74,830,546 (GRCm39) L132R probably benign Het
Mis18bp1 T A 12: 65,185,452 (GRCm39) H905L probably damaging Het
Nr2f2 A G 7: 70,004,446 (GRCm39) S269P probably damaging Het
Or2b2b C A 13: 21,858,787 (GRCm39) C109F probably benign Het
Or2o1 G A 11: 49,051,354 (GRCm39) C171Y probably damaging Het
Or5d46 T A 2: 88,170,771 (GRCm39) N287K probably damaging Het
Pde8b T C 13: 95,166,910 (GRCm39) I757V probably damaging Het
Psg23 A T 7: 18,346,122 (GRCm39) I191N possibly damaging Het
Slc12a4 A T 8: 106,672,475 (GRCm39) probably null Het
Snph A T 2: 151,436,093 (GRCm39) Y209* probably null Het
Tnip3 T A 6: 65,573,107 (GRCm39) probably benign Het
Ttc3 T A 16: 94,243,386 (GRCm39) F1130Y probably damaging Het
Twnk T G 19: 44,998,627 (GRCm39) V515G probably damaging Het
Usp24 T A 4: 106,280,658 (GRCm39) I2324K probably benign Het
Vwa7 T C 17: 35,238,827 (GRCm39) F305S probably damaging Het
Ythdc2 A T 18: 44,983,735 (GRCm39) Q567L probably damaging Het
Zbtb11 T A 16: 55,818,523 (GRCm39) I649K probably damaging Het
Zbtb49 T C 5: 38,358,204 (GRCm39) Y683C probably damaging Het
Zfhx4 A T 3: 5,309,152 (GRCm39) M793L possibly damaging Het
Zmym6 T G 4: 127,002,437 (GRCm39) I556R probably damaging Het
Zswim8 C T 14: 20,764,780 (GRCm39) P717S 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
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 2014-01-21