Incidental Mutation 'R5524:Tnfaip3'
| ID |
431756 |
| 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 |
043082-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5524 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
18876658-18891158 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 18883943 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 146
(S146P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101167
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019997]
[ENSMUST00000105527]
[ENSMUST00000122863]
[ENSMUST00000146388]
|
| AlphaFold |
Q60769 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000019997
AA Change: S146P
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000019997
Gene: ENSMUSG00000019850
AA Change: S146P
| 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 damaging
Transcript: ENSMUST00000105527
AA Change: S146P
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000101167
Gene: ENSMUSG00000019850
AA Change: S146P
| 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 |
0.1381 |
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.4%
- 20x: 91.4%
|
| Validation Efficiency |
100% (76/76) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010L04Rik |
T |
A |
7: 82,503,150 (GRCm39) |
|
noncoding transcript |
Het |
| 6030469F06Rik |
A |
G |
12: 31,234,862 (GRCm39) |
|
noncoding transcript |
Het |
| A830031A19Rik |
T |
A |
11: 24,008,776 (GRCm39) |
I13F |
unknown |
Het |
| Acsbg2 |
A |
C |
17: 57,157,197 (GRCm39) |
L309R |
probably damaging |
Het |
| Adam32 |
A |
T |
8: 25,412,328 (GRCm39) |
M76K |
probably damaging |
Het |
| Adamts14 |
C |
A |
10: 61,066,222 (GRCm39) |
R297L |
probably damaging |
Het |
| Agbl5 |
G |
A |
5: 31,051,247 (GRCm39) |
|
probably null |
Het |
| Asb14 |
A |
G |
14: 26,622,408 (GRCm39) |
K80E |
possibly damaging |
Het |
| Baiap2l1 |
T |
C |
5: 144,217,759 (GRCm39) |
T276A |
probably benign |
Het |
| Cacna1d |
G |
A |
14: 29,764,086 (GRCm39) |
P2127S |
probably benign |
Het |
| Ces2g |
A |
G |
8: 105,693,527 (GRCm39) |
T403A |
probably benign |
Het |
| Cgn |
A |
C |
3: 94,687,299 (GRCm39) |
M1R |
probably null |
Het |
| Chd5 |
T |
G |
4: 152,461,087 (GRCm39) |
S1226A |
probably benign |
Het |
| Col18a1 |
A |
G |
10: 76,894,558 (GRCm39) |
V1497A |
probably damaging |
Het |
| Cpd |
A |
T |
11: 76,688,727 (GRCm39) |
Y848* |
probably null |
Het |
| Cyp2a12 |
T |
C |
7: 26,730,656 (GRCm39) |
V207A |
probably benign |
Het |
| Cyth1 |
G |
A |
11: 118,073,593 (GRCm39) |
R247W |
probably benign |
Het |
| Derl3 |
T |
C |
10: 75,730,324 (GRCm39) |
V129A |
possibly damaging |
Het |
| Ehmt2 |
C |
T |
17: 35,118,067 (GRCm39) |
R40* |
probably null |
Het |
| Eml1 |
A |
T |
12: 108,487,635 (GRCm39) |
I518L |
probably damaging |
Het |
| Eri1 |
A |
G |
8: 35,945,763 (GRCm39) |
V174A |
probably benign |
Het |
| Fgd3 |
T |
A |
13: 49,431,053 (GRCm39) |
I435F |
probably damaging |
Het |
| Foxd1 |
T |
G |
13: 98,492,412 (GRCm39) |
S429A |
unknown |
Het |
| Ftcd |
T |
A |
10: 76,425,165 (GRCm39) |
|
probably benign |
Het |
| Gm5478 |
G |
T |
15: 101,553,102 (GRCm39) |
N323K |
probably benign |
Het |
| Gnpda1 |
G |
T |
18: 38,468,161 (GRCm39) |
P45Q |
probably damaging |
Het |
| Kif20a |
G |
T |
18: 34,763,678 (GRCm39) |
|
probably null |
Het |
| Klrb1 |
T |
C |
6: 128,689,296 (GRCm39) |
|
probably null |
Het |
| Lcorl |
C |
A |
5: 45,932,864 (GRCm39) |
|
probably null |
Het |
| Lcorl |
T |
A |
5: 45,932,865 (GRCm39) |
|
probably null |
Het |
| Lrp1b |
T |
A |
2: 41,000,900 (GRCm39) |
K2108M |
probably damaging |
Het |
| Lyst |
C |
T |
13: 13,921,364 (GRCm39) |
P3437S |
probably benign |
Het |
| Macrod2 |
A |
T |
2: 142,159,863 (GRCm39) |
M349L |
possibly damaging |
Het |
| Marchf7 |
T |
C |
2: 60,075,647 (GRCm39) |
|
probably benign |
Het |
| Mcm9 |
A |
T |
10: 53,424,786 (GRCm39) |
C601* |
probably null |
Het |
| Muc19 |
G |
T |
15: 91,778,587 (GRCm39) |
|
noncoding transcript |
Het |
| Mycbp2 |
T |
C |
14: 103,532,673 (GRCm39) |
D427G |
probably damaging |
Het |
| Nap1l5 |
C |
A |
6: 58,883,763 (GRCm39) |
V64L |
possibly damaging |
Het |
| Ncam2 |
C |
T |
16: 81,231,766 (GRCm39) |
R77* |
probably null |
Het |
| Npas3 |
T |
C |
12: 54,115,721 (GRCm39) |
V863A |
possibly damaging |
Het |
| Nr2c2 |
T |
A |
6: 92,116,746 (GRCm39) |
|
probably null |
Het |
| Oosp3 |
T |
C |
19: 11,682,794 (GRCm39) |
F56S |
possibly damaging |
Het |
| Or1a1b |
A |
T |
11: 74,097,409 (GRCm39) |
L211Q |
probably damaging |
Het |
| Or5k17 |
C |
T |
16: 58,746,172 (GRCm39) |
C254Y |
probably benign |
Het |
| Or8g20 |
C |
T |
9: 39,396,283 (GRCm39) |
V89M |
probably damaging |
Het |
| Plgrkt |
G |
A |
19: 29,327,850 (GRCm39) |
P78S |
probably damaging |
Het |
| Prss36 |
G |
A |
7: 127,533,637 (GRCm39) |
Q56* |
probably null |
Het |
| Ptprz1 |
A |
G |
6: 22,986,317 (GRCm39) |
|
probably null |
Het |
| Qsox2 |
A |
T |
2: 26,107,699 (GRCm39) |
F265I |
probably damaging |
Het |
| R3hcc1l |
G |
T |
19: 42,552,307 (GRCm39) |
E435* |
probably null |
Het |
| Shbg |
T |
C |
11: 69,507,588 (GRCm39) |
D163G |
probably benign |
Het |
| Skint7 |
T |
A |
4: 111,837,546 (GRCm39) |
L108H |
probably damaging |
Het |
| Smtnl1 |
T |
A |
2: 84,649,238 (GRCm39) |
E5D |
probably benign |
Het |
| Spock1 |
C |
T |
13: 57,704,608 (GRCm39) |
G120D |
probably damaging |
Het |
| Stk11ip |
G |
T |
1: 75,508,971 (GRCm39) |
C700F |
probably damaging |
Het |
| Sult4a1 |
C |
T |
15: 83,974,159 (GRCm39) |
|
probably null |
Het |
| Syngap1 |
A |
G |
17: 27,176,126 (GRCm39) |
H138R |
probably damaging |
Het |
| Tdrd7 |
A |
G |
4: 46,034,301 (GRCm39) |
K1016E |
probably benign |
Het |
| Tmem167b |
T |
C |
3: 108,467,569 (GRCm39) |
K26E |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,607,060 (GRCm39) |
V16242I |
possibly damaging |
Het |
| Vmn2r-ps3 |
T |
A |
3: 63,960,870 (GRCm39) |
|
noncoding transcript |
Het |
| Vps13c |
T |
C |
9: 67,864,838 (GRCm39) |
F3049S |
probably damaging |
Het |
| Vstm2l |
T |
C |
2: 157,777,355 (GRCm39) |
W78R |
probably damaging |
Het |
| Wbp1l |
C |
A |
19: 46,642,695 (GRCm39) |
A216D |
possibly damaging |
Het |
| Zer1 |
C |
G |
2: 29,994,866 (GRCm39) |
V510L |
probably damaging |
Het |
| Zfp28 |
A |
T |
7: 6,397,850 (GRCm39) |
|
probably null |
Het |
| Zfp352 |
C |
A |
4: 90,113,341 (GRCm39) |
P494T |
possibly damaging |
Het |
| Zfp353-ps |
A |
G |
8: 42,535,600 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp563 |
A |
T |
17: 33,321,515 (GRCm39) |
|
probably null |
Het |
| Zim1 |
T |
C |
7: 6,680,320 (GRCm39) |
N448D |
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 |
|
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'- GTGGGCAATGCTTAAGTCGAC -3'
(R):5'- GCAATGGTCTTAGTGTCTCCTG -3'
Sequencing Primer
(F):5'- GGGCAATGCTTAAGTCGACTCATATG -3'
(R):5'- AGTGTCTCCTGATAACCTTGGAAG -3'
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| Posted On |
2016-10-05 |
Incidental Mutation