Incidental Mutation 'IGL03032:Tnfaip3'
ID |
408487 |
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 # |
IGL03032
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
18876658-18891158 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 18880357 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 570
(V570A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101167
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019997]
[ENSMUST00000105527]
[ENSMUST00000122863]
|
AlphaFold |
Q60769 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000019997
AA Change: V570A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000019997 Gene: ENSMUSG00000019850 AA Change: V570A
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 |
probably benign
Transcript: ENSMUST00000105527
AA Change: V570A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000101167 Gene: ENSMUSG00000019850 AA Change: V570A
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
|
SMART Domains |
Protein: ENSMUSP00000116318 Gene: ENSMUSG00000019850
Domain | Start | End | E-Value | Type |
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310003L06Rik |
A |
T |
5: 88,119,774 (GRCm39) |
Y177F |
possibly damaging |
Het |
Als2 |
C |
A |
1: 59,255,189 (GRCm39) |
|
probably benign |
Het |
Arhgap44 |
A |
G |
11: 64,915,038 (GRCm39) |
L410P |
probably damaging |
Het |
Atp13a2 |
C |
T |
4: 140,727,666 (GRCm39) |
A481V |
possibly damaging |
Het |
Bod1l |
C |
A |
5: 41,988,927 (GRCm39) |
L393F |
probably benign |
Het |
Cflar |
T |
A |
1: 58,780,179 (GRCm39) |
I258N |
probably damaging |
Het |
Col24a1 |
T |
C |
3: 145,244,458 (GRCm39) |
|
probably null |
Het |
Csmd2 |
A |
T |
4: 128,412,834 (GRCm39) |
N2542I |
probably benign |
Het |
Cyp2b9 |
T |
C |
7: 25,898,025 (GRCm39) |
|
probably benign |
Het |
Dip2c |
A |
T |
13: 9,601,814 (GRCm39) |
I258F |
probably damaging |
Het |
Dock7 |
A |
G |
4: 98,854,585 (GRCm39) |
S1560P |
probably benign |
Het |
Drc7 |
C |
T |
8: 95,802,875 (GRCm39) |
|
probably benign |
Het |
Gm3667 |
T |
A |
14: 18,269,522 (GRCm39) |
S203C |
probably null |
Het |
Gramd2a |
A |
G |
9: 59,619,410 (GRCm39) |
E190G |
probably benign |
Het |
Gstm4 |
T |
C |
3: 107,951,263 (GRCm39) |
D8G |
probably damaging |
Het |
Heatr5b |
A |
T |
17: 79,067,928 (GRCm39) |
M1820K |
probably benign |
Het |
Irs4 |
A |
G |
X: 140,505,794 (GRCm39) |
Y801H |
unknown |
Het |
Loxhd1 |
C |
T |
18: 77,374,169 (GRCm39) |
T80I |
possibly damaging |
Het |
Lrrc40 |
G |
A |
3: 157,747,302 (GRCm39) |
|
probably benign |
Het |
Mapk8ip1 |
T |
G |
2: 92,216,958 (GRCm39) |
K446Q |
probably damaging |
Het |
Mettl21e |
C |
A |
1: 44,249,319 (GRCm39) |
|
probably null |
Het |
Mmp8 |
T |
A |
9: 7,558,530 (GRCm39) |
|
probably benign |
Het |
Muc19 |
A |
T |
15: 91,808,424 (GRCm39) |
|
noncoding transcript |
Het |
Nipsnap3b |
T |
A |
4: 53,015,016 (GRCm39) |
V21E |
possibly damaging |
Het |
Or1j15 |
C |
A |
2: 36,458,716 (GRCm39) |
Y35* |
probably null |
Het |
Or5al6 |
A |
G |
2: 85,977,043 (GRCm39) |
F12L |
probably damaging |
Het |
Or7a38 |
A |
T |
10: 78,753,471 (GRCm39) |
I266F |
probably benign |
Het |
Parp12 |
G |
A |
6: 39,064,520 (GRCm39) |
|
probably null |
Het |
Pramel14 |
C |
A |
4: 143,719,815 (GRCm39) |
L183F |
probably damaging |
Het |
Rgsl1 |
T |
A |
1: 153,701,948 (GRCm39) |
T169S |
possibly damaging |
Het |
Rnf38 |
T |
C |
4: 44,152,529 (GRCm39) |
R12G |
probably damaging |
Het |
Slc9c1 |
T |
C |
16: 45,363,624 (GRCm39) |
|
probably benign |
Het |
Slpi |
T |
C |
2: 164,197,367 (GRCm39) |
|
probably benign |
Het |
Snx17 |
G |
A |
5: 31,353,355 (GRCm39) |
V165I |
probably benign |
Het |
Vmn1r63 |
A |
G |
7: 5,806,350 (GRCm39) |
M94T |
probably benign |
Het |
Vmn2r95 |
A |
G |
17: 18,672,575 (GRCm39) |
I771V |
probably benign |
Het |
Wiz |
A |
G |
17: 32,575,532 (GRCm39) |
V868A |
probably benign |
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 |
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 |
2016-08-02 |