Incidental Mutation 'R6853:Tnfaip3'
| ID |
535100 |
| 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 |
044956-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6853 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
18876658-18891158 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 18879499 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 623
(V623A)
|
| 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: V623A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000019997
Gene: ENSMUSG00000019850
AA Change: V623A
| 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: V623A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000101167
Gene: ENSMUSG00000019850
AA Change: V623A
| 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: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
98% (63/64) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030458C11Rik |
G |
T |
15: 12,818,031 (GRCm39) |
D138E |
probably benign |
Het |
| Atp13a5 |
A |
G |
16: 29,140,480 (GRCm39) |
S359P |
possibly damaging |
Het |
| Bcam |
T |
C |
7: 19,494,331 (GRCm39) |
D355G |
probably damaging |
Het |
| Bmp8a |
C |
A |
4: 123,236,476 (GRCm39) |
W9L |
unknown |
Het |
| Cacul1 |
A |
T |
19: 60,517,904 (GRCm39) |
Y334* |
probably null |
Het |
| Ccdc178 |
A |
T |
18: 22,242,933 (GRCm39) |
N227K |
probably benign |
Het |
| Ceacam2 |
T |
C |
7: 25,217,561 (GRCm39) |
N318S |
possibly damaging |
Het |
| Cntrl |
T |
A |
2: 35,019,833 (GRCm39) |
S553R |
possibly damaging |
Het |
| Ctsa |
T |
A |
2: 164,679,284 (GRCm39) |
M331K |
probably benign |
Het |
| Cyp2c38 |
T |
A |
19: 39,426,748 (GRCm39) |
Q184H |
probably benign |
Het |
| Cyp2c70 |
C |
T |
19: 40,172,364 (GRCm39) |
E93K |
possibly damaging |
Het |
| D430041D05Rik |
C |
T |
2: 104,071,500 (GRCm39) |
V1267M |
probably damaging |
Het |
| Ddias |
C |
T |
7: 92,508,773 (GRCm39) |
A381T |
possibly damaging |
Het |
| Dnhd1 |
G |
A |
7: 105,352,935 (GRCm39) |
C2696Y |
probably benign |
Het |
| Efr3a |
G |
A |
15: 65,701,679 (GRCm39) |
V198I |
probably benign |
Het |
| Farp2 |
T |
C |
1: 93,497,738 (GRCm39) |
F256S |
probably damaging |
Het |
| Fga |
A |
G |
3: 82,938,219 (GRCm39) |
Y198C |
probably damaging |
Het |
| Gabpa |
T |
A |
16: 84,657,387 (GRCm39) |
C421S |
probably damaging |
Het |
| Gm21798 |
A |
T |
15: 64,689,714 (GRCm39) |
|
probably benign |
Het |
| Gm21798 |
A |
T |
15: 64,689,716 (GRCm39) |
|
probably benign |
Het |
| Gm7145 |
A |
C |
1: 117,913,874 (GRCm39) |
N252T |
possibly damaging |
Het |
| H2-Q6 |
T |
C |
17: 35,647,335 (GRCm39) |
*327R |
probably null |
Het |
| H6pd |
T |
C |
4: 150,066,919 (GRCm39) |
D489G |
probably benign |
Het |
| Htra2 |
A |
G |
6: 83,030,812 (GRCm39) |
|
probably benign |
Het |
| Ice1 |
T |
G |
13: 70,751,421 (GRCm39) |
E1555A |
possibly damaging |
Het |
| Inpp5d |
T |
A |
1: 87,609,402 (GRCm39) |
|
probably null |
Het |
| Itih2 |
T |
C |
2: 10,120,077 (GRCm39) |
D320G |
probably damaging |
Het |
| Kif1a |
T |
G |
1: 92,967,524 (GRCm39) |
H1129P |
possibly damaging |
Het |
| Kmt2a |
G |
A |
9: 44,729,704 (GRCm39) |
|
probably benign |
Het |
| L3mbtl4 |
G |
A |
17: 69,084,915 (GRCm39) |
D609N |
probably damaging |
Het |
| Lgals9 |
A |
T |
11: 78,856,832 (GRCm39) |
D248E |
probably benign |
Het |
| Lhx9 |
ACC |
ACCC |
1: 138,769,544 (GRCm39) |
|
probably null |
Het |
| Msh3 |
A |
G |
13: 92,449,080 (GRCm39) |
|
probably null |
Het |
| Mtus2 |
A |
G |
5: 148,043,821 (GRCm39) |
K803R |
probably damaging |
Het |
| Oas1a |
T |
A |
5: 121,045,491 (GRCm39) |
I17L |
possibly damaging |
Het |
| Or2h2c |
G |
A |
17: 37,422,400 (GRCm39) |
T158I |
probably benign |
Het |
| Or5b121 |
T |
A |
19: 13,507,295 (GRCm39) |
I130K |
possibly damaging |
Het |
| Or5k15 |
C |
T |
16: 58,710,121 (GRCm39) |
S154N |
possibly damaging |
Het |
| Or5k15 |
T |
A |
16: 58,710,122 (GRCm39) |
S154C |
probably damaging |
Het |
| Or7g32 |
T |
G |
9: 19,408,102 (GRCm39) |
Y19* |
probably null |
Het |
| Otof |
T |
C |
5: 30,545,583 (GRCm39) |
D539G |
probably damaging |
Het |
| Pabpc4 |
T |
C |
4: 123,188,536 (GRCm39) |
Y382H |
possibly damaging |
Het |
| Rag1 |
T |
C |
2: 101,472,566 (GRCm39) |
T859A |
probably damaging |
Het |
| Ralbp1 |
C |
T |
17: 66,159,751 (GRCm39) |
R504H |
possibly damaging |
Het |
| Sdk2 |
A |
G |
11: 113,671,755 (GRCm39) |
F2131S |
probably damaging |
Het |
| Sik1 |
A |
T |
17: 32,073,180 (GRCm39) |
|
probably null |
Het |
| Sis |
A |
G |
3: 72,798,759 (GRCm39) |
I1763T |
possibly damaging |
Het |
| Slc39a6 |
A |
G |
18: 24,732,376 (GRCm39) |
I304T |
possibly damaging |
Het |
| Slc5a12 |
A |
G |
2: 110,454,539 (GRCm39) |
S367G |
probably benign |
Het |
| Smchd1 |
A |
T |
17: 71,743,738 (GRCm39) |
W476R |
probably damaging |
Het |
| Spag17 |
T |
C |
3: 99,920,551 (GRCm39) |
Y429H |
possibly damaging |
Het |
| Stt3a |
G |
A |
9: 36,653,023 (GRCm39) |
S553F |
possibly damaging |
Het |
| Sult2a1 |
C |
T |
7: 13,535,412 (GRCm39) |
V214I |
possibly damaging |
Het |
| Supt6 |
T |
C |
11: 78,123,656 (GRCm39) |
E38G |
possibly damaging |
Het |
| Tenm4 |
G |
A |
7: 96,486,502 (GRCm39) |
G990R |
possibly damaging |
Het |
| Thop1 |
T |
C |
10: 80,911,495 (GRCm39) |
|
probably null |
Het |
| Thumpd2 |
C |
A |
17: 81,372,459 (GRCm39) |
D11Y |
possibly damaging |
Het |
| Tmf1 |
T |
G |
6: 97,145,810 (GRCm39) |
I574L |
probably damaging |
Het |
| Ttll3 |
CAAAGTAA |
CAAAGTAAAGTAA |
6: 113,376,118 (GRCm39) |
|
probably null |
Het |
| Ush2a |
T |
G |
1: 188,643,434 (GRCm39) |
Y4265* |
probably null |
Het |
| Vamp5 |
G |
A |
6: 72,357,424 (GRCm39) |
|
probably benign |
Het |
| Vmn2r12 |
A |
T |
5: 109,240,771 (GRCm39) |
L114Q |
probably damaging |
Het |
| Vmn2r98 |
A |
T |
17: 19,286,063 (GRCm39) |
Y187F |
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 |
|
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 |
|
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'- ACCAAATGTCTCACCAGCTG -3'
(R):5'- GTGGCTTAGGGATCTCTCAC -3'
Sequencing Primer
(F):5'- AAATGTCTCACCAGCTGTTCTTC -3'
(R):5'- GCTTAGGGATCTCTCACTAAAAGGC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation