Incidental Mutation 'R7693:Tnfaip3'
ID |
593506 |
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 |
045708-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7693 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
18876658-18891158 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 18880528 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 513
(V513A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000019997
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019997]
[ENSMUST00000105527]
[ENSMUST00000122863]
|
AlphaFold |
Q60769 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000019997
AA Change: V513A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000019997 Gene: ENSMUSG00000019850 AA Change: V513A
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: V513A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000101167 Gene: ENSMUSG00000019850 AA Change: V513A
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc8 |
C |
A |
7: 45,827,968 (GRCm39) |
S63I |
probably damaging |
Het |
Adcy10 |
A |
G |
1: 165,398,340 (GRCm39) |
E1479G |
probably benign |
Het |
Alpl |
C |
T |
4: 137,471,120 (GRCm39) |
G339R |
probably damaging |
Het |
Anapc1 |
A |
G |
2: 128,483,457 (GRCm39) |
S1213P |
possibly damaging |
Het |
Aoc3 |
C |
A |
11: 101,223,338 (GRCm39) |
H525N |
probably benign |
Het |
Arhgap33 |
A |
T |
7: 30,225,537 (GRCm39) |
|
probably null |
Het |
Arhgef4 |
A |
G |
1: 34,763,222 (GRCm39) |
E826G |
probably benign |
Het |
Art2a |
A |
T |
7: 101,204,056 (GRCm39) |
*161R |
probably null |
Het |
Azi2 |
A |
T |
9: 117,876,661 (GRCm39) |
N59I |
probably damaging |
Het |
Cdhr5 |
T |
C |
7: 140,851,691 (GRCm39) |
T538A |
probably benign |
Het |
Cilk1 |
A |
G |
9: 78,065,008 (GRCm39) |
D306G |
probably benign |
Het |
Csnk2b |
C |
A |
17: 35,336,972 (GRCm39) |
G123C |
probably null |
Het |
Dnaaf10 |
T |
C |
11: 17,162,064 (GRCm39) |
V34A |
probably benign |
Het |
Dnaja2 |
G |
T |
8: 86,266,939 (GRCm39) |
P306Q |
probably damaging |
Het |
Dusp19 |
A |
G |
2: 80,447,905 (GRCm39) |
T60A |
probably benign |
Het |
Epm2aip1 |
G |
A |
9: 111,101,443 (GRCm39) |
G139S |
probably benign |
Het |
Fer1l4 |
A |
G |
2: 155,862,351 (GRCm39) |
F1774S |
possibly damaging |
Het |
Fxyd3 |
T |
A |
7: 30,770,598 (GRCm39) |
R66S |
probably benign |
Het |
Gjd2 |
T |
C |
2: 113,842,309 (GRCm39) |
N56S |
probably damaging |
Het |
Gmcl1 |
A |
G |
6: 86,691,239 (GRCm39) |
I252T |
probably benign |
Het |
Gnl1 |
T |
C |
17: 36,299,112 (GRCm39) |
C517R |
probably damaging |
Het |
Grin1 |
T |
A |
2: 25,208,679 (GRCm39) |
M74L |
possibly damaging |
Het |
Hinfp |
A |
G |
9: 44,209,642 (GRCm39) |
M244T |
probably damaging |
Het |
Iqca1l |
T |
C |
5: 24,751,626 (GRCm39) |
I541V |
probably benign |
Het |
Kcnma1 |
T |
A |
14: 23,417,680 (GRCm39) |
I850F |
probably damaging |
Het |
Kif13a |
G |
T |
13: 46,904,089 (GRCm39) |
T1748N |
probably benign |
Het |
Lama1 |
C |
T |
17: 68,124,026 (GRCm39) |
A2817V |
|
Het |
Map6 |
C |
T |
7: 98,985,499 (GRCm39) |
L671F |
possibly damaging |
Het |
Neb |
C |
T |
2: 52,189,581 (GRCm39) |
A770T |
probably damaging |
Het |
Noc2l |
T |
A |
4: 156,324,764 (GRCm39) |
H280Q |
probably damaging |
Het |
Ntrk1 |
T |
C |
3: 87,695,733 (GRCm39) |
D205G |
probably benign |
Het |
Or5m5 |
A |
T |
2: 85,814,979 (GRCm39) |
Y265F |
probably damaging |
Het |
Or7a37 |
A |
T |
10: 78,806,137 (GRCm39) |
Y218F |
probably damaging |
Het |
Parp9 |
A |
G |
16: 35,777,282 (GRCm39) |
S409G |
possibly damaging |
Het |
Pcnx2 |
G |
A |
8: 126,613,864 (GRCm39) |
T529I |
probably benign |
Het |
Popdc3 |
A |
G |
10: 45,191,227 (GRCm39) |
S113G |
probably benign |
Het |
Rbm8a |
T |
C |
3: 96,537,624 (GRCm39) |
I25T |
probably damaging |
Het |
Rfc4 |
A |
G |
16: 22,946,163 (GRCm39) |
W40R |
probably damaging |
Het |
Rp1 |
T |
C |
1: 4,417,626 (GRCm39) |
D1162G |
probably damaging |
Het |
Slc14a2 |
G |
A |
18: 78,197,218 (GRCm39) |
A846V |
possibly damaging |
Het |
Spx |
A |
G |
6: 142,360,516 (GRCm39) |
D56G |
probably damaging |
Het |
Tanc2 |
T |
A |
11: 105,814,293 (GRCm39) |
N1912K |
probably damaging |
Het |
Tmcc1 |
T |
C |
6: 116,001,843 (GRCm39) |
I559V |
|
Het |
Ucp3 |
T |
C |
7: 100,131,799 (GRCm39) |
F217L |
probably benign |
Het |
Zc3h11a |
A |
T |
1: 133,573,475 (GRCm39) |
M55K |
probably damaging |
Het |
Zfp316 |
G |
A |
5: 143,249,167 (GRCm39) |
T156I |
unknown |
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 |
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 |
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'- ATTTCCAGTCCGGTGGCAAG -3'
(R):5'- GACTTGGCTCCTCAAACTGG -3'
Sequencing Primer
(F):5'- CCGGTGGCAAGAGTGTG -3'
(R):5'- AACCGCTGGAGGACCTCATTC -3'
|
Posted On |
2019-11-12 |