Incidental Mutation 'R4673:Tnfaip3'
| ID |
348628 |
| 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 |
041928-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4673 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
18876658-18891158 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to C
at 18887580 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120627
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019997]
[ENSMUST00000105527]
[ENSMUST00000122863]
[ENSMUST00000146388]
|
| AlphaFold |
Q60769 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019997
|
| SMART Domains |
Protein: ENSMUSP00000019997
Gene: ENSMUSG00000019850
| 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
|
| SMART Domains |
Protein: ENSMUSP00000101167
Gene: ENSMUSG00000019850
| 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 |
probably benign
Transcript: ENSMUST00000146388
|
| SMART Domains |
Protein: ENSMUSP00000120627
Gene: ENSMUSG00000019850
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam32 |
T |
C |
8: 25,374,471 (GRCm39) |
E507G |
probably damaging |
Het |
| Adam39 |
C |
T |
8: 41,277,768 (GRCm39) |
T53I |
probably benign |
Het |
| Adam4 |
A |
T |
12: 81,468,535 (GRCm39) |
S29T |
possibly damaging |
Het |
| Adamdec1 |
C |
A |
14: 68,815,353 (GRCm39) |
E104* |
probably null |
Het |
| Alas1 |
G |
T |
9: 106,113,676 (GRCm39) |
P523Q |
probably damaging |
Het |
| Aldh3a1 |
A |
G |
11: 61,104,320 (GRCm39) |
D69G |
probably benign |
Het |
| Arhgap29 |
T |
A |
3: 121,808,620 (GRCm39) |
V1266E |
probably damaging |
Het |
| Bcdin3d |
T |
C |
15: 99,368,719 (GRCm39) |
D160G |
probably damaging |
Het |
| Btaf1 |
T |
A |
19: 36,955,772 (GRCm39) |
F569I |
probably benign |
Het |
| Cacna1b |
A |
G |
2: 24,521,956 (GRCm39) |
L1718S |
probably damaging |
Het |
| Casd1 |
A |
G |
6: 4,629,975 (GRCm39) |
Y457C |
probably damaging |
Het |
| Creb3 |
T |
C |
4: 43,563,192 (GRCm39) |
V97A |
probably benign |
Het |
| Cux2 |
G |
T |
5: 122,025,539 (GRCm39) |
S43* |
probably null |
Het |
| Fhip1a |
A |
T |
3: 85,638,020 (GRCm39) |
V93D |
probably damaging |
Het |
| Fsbp |
T |
G |
4: 11,579,841 (GRCm39) |
N36K |
probably benign |
Het |
| Gm11565 |
A |
G |
11: 99,806,040 (GRCm39) |
D144G |
probably benign |
Het |
| Gpn3 |
A |
G |
5: 122,511,981 (GRCm39) |
Y19C |
probably damaging |
Het |
| Gstz1 |
A |
T |
12: 87,208,837 (GRCm39) |
T148S |
probably benign |
Het |
| Gtf3c5 |
A |
G |
2: 28,462,236 (GRCm39) |
I282T |
probably benign |
Het |
| Hspa2 |
T |
A |
12: 76,452,514 (GRCm39) |
S403T |
possibly damaging |
Het |
| Il27 |
G |
A |
7: 126,190,251 (GRCm39) |
T121I |
possibly damaging |
Het |
| Itpr2 |
A |
G |
6: 146,274,671 (GRCm39) |
F837S |
probably damaging |
Het |
| Kctd1 |
T |
A |
18: 15,196,284 (GRCm39) |
|
probably benign |
Het |
| Kynu |
A |
G |
2: 43,569,815 (GRCm39) |
T366A |
probably damaging |
Het |
| Lama5 |
G |
A |
2: 179,841,059 (GRCm39) |
T507I |
probably damaging |
Het |
| Myh11 |
C |
T |
16: 14,087,105 (GRCm39) |
V124M |
probably damaging |
Het |
| Myh14 |
T |
A |
7: 44,273,754 (GRCm39) |
H1331L |
probably damaging |
Het |
| Myh2 |
T |
A |
11: 67,079,303 (GRCm39) |
L957Q |
probably damaging |
Het |
| Myh4 |
T |
C |
11: 67,137,227 (GRCm39) |
F483L |
probably benign |
Het |
| Nbeal1 |
A |
C |
1: 60,368,549 (GRCm39) |
K2631N |
probably damaging |
Het |
| Ofcc1 |
G |
A |
13: 40,168,864 (GRCm39) |
T841I |
probably damaging |
Het |
| Ogg1 |
T |
C |
6: 113,304,268 (GRCm39) |
C28R |
probably damaging |
Het |
| Or13c7c |
T |
C |
4: 43,836,430 (GRCm39) |
H20R |
probably benign |
Het |
| Or5b24 |
G |
A |
19: 12,912,461 (GRCm39) |
A120T |
probably damaging |
Het |
| Or5k17 |
C |
T |
16: 58,746,053 (GRCm39) |
V294I |
possibly damaging |
Het |
| Or6e1 |
C |
T |
14: 54,519,789 (GRCm39) |
A188T |
possibly damaging |
Het |
| Or7g35 |
A |
G |
9: 19,496,726 (GRCm39) |
K298E |
possibly damaging |
Het |
| Parp6 |
G |
C |
9: 59,547,393 (GRCm39) |
R460P |
probably damaging |
Het |
| Phf14 |
A |
G |
6: 11,992,056 (GRCm39) |
H744R |
probably damaging |
Het |
| Pibf1 |
A |
G |
14: 99,370,787 (GRCm39) |
N263S |
possibly damaging |
Het |
| Plcb4 |
A |
G |
2: 135,774,191 (GRCm39) |
T158A |
possibly damaging |
Het |
| Plce1 |
T |
C |
19: 38,737,840 (GRCm39) |
S1615P |
possibly damaging |
Het |
| Plxna3 |
T |
G |
X: 73,382,554 (GRCm39) |
|
probably null |
Het |
| Rad54b |
T |
A |
4: 11,609,449 (GRCm39) |
H633Q |
probably benign |
Het |
| Rgs22 |
T |
A |
15: 36,100,079 (GRCm39) |
Y212F |
probably benign |
Het |
| Rnd3 |
G |
A |
2: 51,022,553 (GRCm39) |
A163V |
probably benign |
Het |
| Rnf10 |
A |
T |
5: 115,389,148 (GRCm39) |
V315E |
probably damaging |
Het |
| Robo2 |
C |
T |
16: 73,701,266 (GRCm39) |
|
probably null |
Het |
| Rp1l1 |
T |
G |
14: 64,268,719 (GRCm39) |
V1435G |
probably damaging |
Het |
| Scaf8 |
T |
A |
17: 3,248,260 (GRCm39) |
D1194E |
probably benign |
Het |
| Septin12 |
T |
C |
16: 4,809,807 (GRCm39) |
T198A |
probably damaging |
Het |
| Shisa2 |
A |
G |
14: 59,867,629 (GRCm39) |
T294A |
probably damaging |
Het |
| Spta1 |
A |
G |
1: 174,018,628 (GRCm39) |
|
probably null |
Het |
| Strbp |
A |
T |
2: 37,535,691 (GRCm39) |
S6T |
probably damaging |
Het |
| Syf2 |
A |
G |
4: 134,661,804 (GRCm39) |
E56G |
probably damaging |
Het |
| Thap4 |
T |
C |
1: 93,642,588 (GRCm39) |
|
probably benign |
Het |
| Tnxb |
A |
G |
17: 34,891,514 (GRCm39) |
E619G |
probably damaging |
Het |
| Tpr |
G |
A |
1: 150,299,318 (GRCm39) |
A1173T |
probably benign |
Het |
| Tspan3 |
G |
A |
9: 56,043,980 (GRCm39) |
R240W |
probably damaging |
Het |
| Tut7 |
G |
T |
13: 59,944,659 (GRCm39) |
T658K |
probably damaging |
Het |
| Ubr4 |
C |
T |
4: 139,138,027 (GRCm39) |
S1128L |
probably damaging |
Het |
| Ucp1 |
T |
C |
8: 84,021,876 (GRCm39) |
V236A |
probably damaging |
Het |
| Usp34 |
TCACCACCACCACCACCACCACCACCAC |
TCACCACCACCACCACCACCACCAC |
11: 23,314,480 (GRCm39) |
|
probably benign |
Het |
| Zfp940 |
T |
C |
7: 29,544,863 (GRCm39) |
D348G |
probably benign |
Het |
| Zpld2 |
G |
A |
4: 133,927,658 (GRCm39) |
A365V |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-10-08 |
Incidental Mutation