Incidental Mutation 'IGL03331:Tnfaip3'
| ID |
416859 |
| 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)
|
| Stock # |
IGL03331
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
18876658-18891158 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 18887349 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 59
(Q59K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120627
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019997]
[ENSMUST00000105527]
[ENSMUST00000122863]
[ENSMUST00000146388]
|
| AlphaFold |
Q60769 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000019997
AA Change: Q59K
PolyPhen 2
Score 0.625 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000019997
Gene: ENSMUSG00000019850
AA Change: Q59K
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
possibly damaging
Transcript: ENSMUST00000105527
AA Change: Q59K
PolyPhen 2
Score 0.625 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000101167
Gene: ENSMUSG00000019850
AA Change: Q59K
| Domain | Start | End | E-Value | Type |
|---|
|
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
AA Change: Q59K
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000116318
Gene: ENSMUSG00000019850
AA Change: Q59K
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2VFJ|D
|
1 |
122 |
2e-83 |
PDB |
|
SCOP:d1e3ha3
|
18 |
109 |
2e-3 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000146388
AA Change: Q59K
PolyPhen 2
Score 0.625 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000120627
Gene: ENSMUSG00000019850
AA Change: Q59K
| Domain | Start | End | E-Value | Type |
|---|
|
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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap11 |
C |
A |
14: 78,751,305 (GRCm39) |
D361Y |
probably damaging |
Het |
| Arhgap10 |
T |
C |
8: 78,146,711 (GRCm39) |
N231S |
probably damaging |
Het |
| Asb15 |
A |
T |
6: 24,556,523 (GRCm39) |
D6V |
possibly damaging |
Het |
| C1qb |
G |
A |
4: 136,607,604 (GRCm39) |
A253V |
probably damaging |
Het |
| Ccdc178 |
G |
T |
18: 21,944,640 (GRCm39) |
|
probably null |
Het |
| Chst15 |
A |
G |
7: 131,864,442 (GRCm39) |
L387P |
probably damaging |
Het |
| Clca3b |
T |
A |
3: 144,533,724 (GRCm39) |
E550D |
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,420,086 (GRCm39) |
K3795E |
probably damaging |
Het |
| Dppa2 |
T |
C |
16: 48,134,242 (GRCm39) |
|
probably benign |
Het |
| Epb41l5 |
T |
C |
1: 119,545,149 (GRCm39) |
Y220C |
probably damaging |
Het |
| Fkbpl |
C |
T |
17: 34,864,661 (GRCm39) |
T143I |
probably damaging |
Het |
| Gbe1 |
T |
G |
16: 70,230,466 (GRCm39) |
Y155D |
probably damaging |
Het |
| Gm1979 |
T |
C |
5: 26,207,008 (GRCm39) |
K69R |
probably damaging |
Het |
| Gna14 |
G |
A |
19: 16,586,832 (GRCm39) |
V336M |
probably damaging |
Het |
| Gpr37 |
A |
G |
6: 25,669,728 (GRCm39) |
V372A |
probably benign |
Het |
| H2bc12 |
T |
C |
13: 22,220,443 (GRCm39) |
|
probably benign |
Het |
| Herc2 |
C |
A |
7: 55,785,015 (GRCm39) |
|
probably benign |
Het |
| Krt20 |
T |
C |
11: 99,326,256 (GRCm39) |
|
probably null |
Het |
| Lman1 |
T |
C |
18: 66,126,275 (GRCm39) |
T284A |
probably benign |
Het |
| Matn2 |
A |
T |
15: 34,345,503 (GRCm39) |
D170V |
probably damaging |
Het |
| Morc1 |
C |
A |
16: 48,432,731 (GRCm39) |
|
probably benign |
Het |
| Necap1 |
T |
A |
6: 122,857,376 (GRCm39) |
S34T |
probably benign |
Het |
| Nt5c3b |
T |
C |
11: 100,327,041 (GRCm39) |
Y85C |
probably damaging |
Het |
| Or2t6 |
C |
A |
14: 14,176,017 (GRCm38) |
A22S |
probably benign |
Het |
| Or5b102 |
T |
A |
19: 13,041,231 (GRCm39) |
L152H |
probably damaging |
Het |
| Papln |
A |
G |
12: 83,830,435 (GRCm39) |
M1016V |
probably benign |
Het |
| Pld1 |
T |
C |
3: 28,139,994 (GRCm39) |
F605L |
probably damaging |
Het |
| Rbms2 |
T |
A |
10: 127,969,504 (GRCm39) |
|
probably benign |
Het |
| Rps6kb1 |
A |
T |
11: 86,423,656 (GRCm39) |
V108E |
probably damaging |
Het |
| Scap |
T |
C |
9: 110,209,304 (GRCm39) |
|
probably null |
Het |
| Serpina1f |
T |
C |
12: 103,657,150 (GRCm39) |
I307M |
probably benign |
Het |
| Tchh |
A |
G |
3: 93,350,725 (GRCm39) |
D55G |
probably damaging |
Het |
| Vcan |
A |
G |
13: 89,810,051 (GRCm39) |
C2287R |
probably damaging |
Het |
| Vmn2r6 |
T |
C |
3: 64,445,428 (GRCm39) |
N766D |
probably damaging |
Het |
|
| Other mutations in Tnfaip3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
|
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 |
2016-08-02 |
Incidental Mutation