Incidental Mutation 'R2040:Tnfaip3'
ID |
225546 |
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 |
040047-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2040 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
18876658-18891158 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 18883900 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 160
(D160G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101167
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019997]
[ENSMUST00000105527]
[ENSMUST00000122863]
[ENSMUST00000146388]
|
AlphaFold |
Q60769 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000019997
AA Change: D160G
PolyPhen 2
Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000019997 Gene: ENSMUSG00000019850 AA Change: D160G
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: D160G
PolyPhen 2
Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000101167 Gene: ENSMUSG00000019850 AA Change: D160G
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
|
Meta Mutation Damage Score |
0.0907 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.1%
|
Validation Efficiency |
99% (67/68) |
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700028K03Rik |
A |
T |
5: 107,693,607 (GRCm39) |
I75L |
probably benign |
Het |
Abca2 |
T |
C |
2: 25,333,817 (GRCm39) |
L1755P |
probably damaging |
Het |
Adam6b |
A |
T |
12: 113,454,364 (GRCm39) |
I394L |
probably benign |
Het |
Ano2 |
T |
A |
6: 126,016,471 (GRCm39) |
N1001K |
probably benign |
Het |
Arap2 |
A |
T |
5: 62,906,259 (GRCm39) |
N253K |
probably damaging |
Het |
Ascc3 |
T |
C |
10: 50,604,227 (GRCm39) |
C1316R |
probably benign |
Het |
Atox1 |
T |
C |
11: 55,341,343 (GRCm39) |
Y64C |
probably benign |
Het |
Atp13a1 |
A |
G |
8: 70,259,702 (GRCm39) |
T1098A |
possibly damaging |
Het |
Casr |
T |
C |
16: 36,330,728 (GRCm39) |
E202G |
possibly damaging |
Het |
Cct2 |
T |
C |
10: 116,889,018 (GRCm39) |
T494A |
probably benign |
Het |
Cd209e |
T |
A |
8: 3,899,158 (GRCm39) |
N185Y |
probably damaging |
Het |
Celsr1 |
A |
G |
15: 85,917,088 (GRCm39) |
L295P |
probably damaging |
Het |
Cyp26a1 |
A |
G |
19: 37,686,499 (GRCm39) |
T48A |
possibly damaging |
Het |
Elovl3 |
A |
G |
19: 46,121,567 (GRCm39) |
S37G |
probably benign |
Het |
Fbh1 |
T |
G |
2: 11,774,706 (GRCm39) |
D13A |
possibly damaging |
Het |
Fpr-rs4 |
CAGGAA |
CA |
17: 18,242,596 (GRCm39) |
|
probably null |
Het |
Frem3 |
G |
T |
8: 81,342,455 (GRCm39) |
V1583L |
possibly damaging |
Het |
Gm21863 |
C |
A |
12: 20,004,515 (GRCm39) |
Q4K |
possibly damaging |
Het |
Gm266 |
T |
C |
12: 111,452,132 (GRCm39) |
T25A |
possibly damaging |
Het |
Gm8674 |
T |
C |
13: 50,055,705 (GRCm39) |
|
noncoding transcript |
Het |
Greb1 |
T |
C |
12: 16,752,651 (GRCm39) |
H897R |
probably damaging |
Het |
Hells |
A |
G |
19: 38,943,474 (GRCm39) |
D565G |
probably damaging |
Het |
Hfm1 |
C |
T |
5: 107,049,684 (GRCm39) |
V426I |
probably damaging |
Het |
Ints6 |
G |
A |
14: 62,951,138 (GRCm39) |
T297I |
probably damaging |
Het |
Itga10 |
C |
T |
3: 96,559,054 (GRCm39) |
|
probably benign |
Het |
Kmt2b |
A |
T |
7: 30,268,845 (GRCm39) |
M2628K |
probably damaging |
Het |
Ktn1 |
T |
G |
14: 47,938,069 (GRCm39) |
|
probably benign |
Het |
Lyst |
T |
A |
13: 13,815,807 (GRCm39) |
D1230E |
probably benign |
Het |
Mboat1 |
T |
C |
13: 30,425,300 (GRCm39) |
|
probably null |
Het |
Moxd2 |
T |
C |
6: 40,861,887 (GRCm39) |
|
probably null |
Het |
Mtmr4 |
T |
C |
11: 87,495,916 (GRCm39) |
M527T |
probably damaging |
Het |
Myt1 |
T |
A |
2: 181,467,717 (GRCm39) |
N1050K |
probably damaging |
Het |
Ncoa6 |
A |
T |
2: 155,248,000 (GRCm39) |
V1768E |
probably damaging |
Het |
Nelfcd |
G |
A |
2: 174,261,875 (GRCm39) |
C48Y |
probably damaging |
Het |
Opn3 |
G |
A |
1: 175,491,145 (GRCm39) |
A296V |
possibly damaging |
Het |
Or13a22 |
T |
C |
7: 140,073,295 (GRCm39) |
I248T |
probably benign |
Het |
Or2z8 |
T |
A |
8: 72,811,607 (GRCm39) |
F28I |
possibly damaging |
Het |
Pam |
T |
C |
1: 97,792,167 (GRCm39) |
E418G |
possibly damaging |
Het |
Prrc2c |
A |
T |
1: 162,525,126 (GRCm39) |
N493K |
probably damaging |
Het |
Ptpn18 |
A |
G |
1: 34,509,300 (GRCm39) |
Q165R |
probably damaging |
Het |
Ptpro |
C |
A |
6: 137,363,162 (GRCm39) |
|
probably benign |
Het |
Ralgapa1 |
A |
G |
12: 55,833,107 (GRCm39) |
F132S |
probably damaging |
Het |
Robo1 |
T |
C |
16: 72,730,630 (GRCm39) |
C244R |
probably damaging |
Het |
Robo3 |
A |
C |
9: 37,338,760 (GRCm39) |
V316G |
probably damaging |
Het |
Rsl1 |
T |
C |
13: 67,330,145 (GRCm39) |
S198P |
probably damaging |
Het |
Rsph9 |
T |
C |
17: 46,445,910 (GRCm39) |
D220G |
probably damaging |
Het |
Rxfp2 |
A |
C |
5: 149,993,677 (GRCm39) |
I580L |
probably benign |
Het |
Septin7 |
G |
A |
9: 25,199,532 (GRCm39) |
A144T |
possibly damaging |
Het |
Sfn |
T |
C |
4: 133,328,603 (GRCm39) |
K160E |
probably benign |
Het |
Ski |
A |
G |
4: 155,306,029 (GRCm39) |
Y317H |
probably damaging |
Het |
Skic3 |
A |
C |
13: 76,328,222 (GRCm39) |
R1423S |
probably damaging |
Het |
Slc22a22 |
A |
T |
15: 57,110,936 (GRCm39) |
Y430* |
probably null |
Het |
Src |
A |
G |
2: 157,299,030 (GRCm39) |
K9R |
probably benign |
Het |
Srm |
C |
T |
4: 148,678,453 (GRCm39) |
P255L |
possibly damaging |
Het |
Stpg4 |
T |
A |
17: 87,730,075 (GRCm39) |
N90I |
probably damaging |
Het |
Sytl2 |
T |
A |
7: 90,031,069 (GRCm39) |
|
probably benign |
Het |
Tbpl2 |
T |
C |
2: 23,984,871 (GRCm39) |
K92R |
probably benign |
Het |
Tlcd4 |
G |
T |
3: 121,024,975 (GRCm39) |
|
probably benign |
Het |
Tmem38a |
T |
A |
8: 73,335,096 (GRCm39) |
N178K |
probably damaging |
Het |
Vegfb |
T |
A |
19: 6,963,407 (GRCm39) |
H119L |
possibly damaging |
Het |
Vmn2r111 |
T |
A |
17: 22,767,395 (GRCm39) |
I701F |
probably damaging |
Het |
Vmn2r95 |
C |
T |
17: 18,661,561 (GRCm39) |
L436F |
probably damaging |
Het |
Wdr47 |
T |
C |
3: 108,530,688 (GRCm39) |
C394R |
probably benign |
Het |
Ythdc2 |
T |
A |
18: 44,988,241 (GRCm39) |
Y16* |
probably null |
Het |
Zer1 |
G |
A |
2: 29,998,286 (GRCm39) |
L342F |
probably damaging |
Het |
Zfp353-ps |
A |
G |
8: 42,535,333 (GRCm39) |
|
noncoding transcript |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CCTAGGAATCAGCTGTCCAG -3'
(R):5'- GGTGATGGAAACTGCCTCATG -3'
Sequencing Primer
(F):5'- CAGCTGTCCAGATTTAGCTCAGAG -3'
(R):5'- ATGCATGCAGCTTGTCAGTAC -3'
|
Posted On |
2014-08-25 |