Incidental Mutation 'R4386:Tnfaip3'
| ID |
326232 |
| 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 |
041680-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4386 (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 18882758 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 220
(S220P)
|
| 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: S220P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000019997
Gene: ENSMUSG00000019850
AA Change: S220P
| 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: S220P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101167
Gene: ENSMUSG00000019850
AA Change: S220P
| 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 |
0.7745 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
100% (48/48) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
A |
T |
5: 114,379,982 (GRCm39) |
|
probably null |
Het |
| Acsm3 |
G |
T |
7: 119,373,094 (GRCm39) |
W199L |
probably damaging |
Het |
| Arap1 |
T |
A |
7: 101,034,778 (GRCm39) |
D236E |
probably benign |
Het |
| Arhgap1 |
T |
C |
2: 91,498,582 (GRCm39) |
Y160H |
probably damaging |
Het |
| Arid1b |
A |
G |
17: 5,045,247 (GRCm39) |
|
probably benign |
Het |
| Cdc25a |
A |
G |
9: 109,718,801 (GRCm39) |
E334G |
probably damaging |
Het |
| Ciz1 |
C |
T |
2: 32,260,111 (GRCm39) |
T219M |
possibly damaging |
Het |
| Cluap1 |
A |
C |
16: 3,751,586 (GRCm39) |
D315A |
possibly damaging |
Het |
| Cps1 |
T |
C |
1: 67,210,154 (GRCm39) |
|
probably null |
Het |
| Cul2 |
T |
C |
18: 3,434,856 (GRCm39) |
S668P |
probably damaging |
Het |
| Fah |
T |
A |
7: 84,248,344 (GRCm39) |
T125S |
probably damaging |
Het |
| Fam221a |
G |
A |
6: 49,355,366 (GRCm39) |
C156Y |
probably damaging |
Het |
| Gm6158 |
G |
T |
14: 24,120,362 (GRCm39) |
|
noncoding transcript |
Het |
| Hbq1b |
T |
A |
11: 32,237,295 (GRCm39) |
V63E |
probably damaging |
Het |
| Ighv6-5 |
G |
A |
12: 114,380,337 (GRCm39) |
T79I |
possibly damaging |
Het |
| Kif12 |
G |
A |
4: 63,089,455 (GRCm39) |
T99M |
probably damaging |
Het |
| Kif1a |
T |
A |
1: 92,996,272 (GRCm39) |
K298M |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lama1 |
A |
G |
17: 68,080,707 (GRCm39) |
Q1245R |
probably benign |
Het |
| Marchf4 |
G |
A |
1: 72,467,973 (GRCm39) |
P353L |
probably benign |
Het |
| Nadk |
A |
T |
4: 155,667,032 (GRCm39) |
|
probably benign |
Het |
| Ncoa2 |
T |
C |
1: 13,247,389 (GRCm39) |
T345A |
probably damaging |
Het |
| Niban3 |
A |
G |
8: 72,060,155 (GRCm39) |
|
probably benign |
Het |
| Nsun6 |
T |
A |
2: 15,001,333 (GRCm39) |
M408L |
probably benign |
Het |
| Nuak1 |
T |
A |
10: 84,229,908 (GRCm39) |
E155V |
probably damaging |
Het |
| Oosp1 |
C |
T |
19: 11,645,158 (GRCm39) |
V169I |
possibly damaging |
Het |
| Or13c7c |
C |
T |
4: 43,836,124 (GRCm39) |
R122H |
probably benign |
Het |
| Or2t26 |
T |
A |
11: 49,039,842 (GRCm39) |
Y253N |
probably damaging |
Het |
| Or5ae2 |
T |
C |
7: 84,505,756 (GRCm39) |
Y60H |
probably damaging |
Het |
| Or5p81 |
T |
A |
7: 108,267,460 (GRCm39) |
V279E |
probably damaging |
Het |
| Pabpc2 |
T |
C |
18: 39,908,238 (GRCm39) |
V501A |
probably benign |
Het |
| Pik3c2a |
A |
G |
7: 115,953,334 (GRCm39) |
V1187A |
probably damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,484,516 (GRCm39) |
V2013A |
probably benign |
Het |
| Psmd1 |
T |
A |
1: 86,055,914 (GRCm39) |
S759T |
possibly damaging |
Het |
| Scgb1b2 |
T |
A |
7: 30,990,089 (GRCm39) |
K86N |
possibly damaging |
Het |
| Sdk1 |
T |
C |
5: 142,080,381 (GRCm39) |
I1291T |
probably damaging |
Het |
| Skint5 |
T |
C |
4: 113,341,090 (GRCm39) |
Y1396C |
probably benign |
Het |
| Slc24a3 |
A |
G |
2: 145,448,746 (GRCm39) |
E380G |
probably benign |
Het |
| Spock1 |
A |
G |
13: 57,588,263 (GRCm39) |
S270P |
probably damaging |
Het |
| Tmem128 |
T |
C |
5: 38,419,418 (GRCm39) |
S57P |
probably damaging |
Het |
| Tmem186 |
G |
A |
16: 8,453,887 (GRCm39) |
R125W |
probably benign |
Het |
| Usp45 |
T |
C |
4: 21,830,505 (GRCm39) |
|
probably null |
Het |
| Usp5 |
C |
T |
6: 124,795,437 (GRCm39) |
|
probably null |
Het |
| Vmn1r35 |
A |
T |
6: 66,656,573 (GRCm39) |
C32* |
probably null |
Het |
| Vmn2r112 |
T |
A |
17: 22,820,303 (GRCm39) |
F59I |
probably benign |
Het |
| Wfdc9 |
A |
T |
2: 164,492,458 (GRCm39) |
S56R |
probably benign |
Het |
| Zfp369 |
A |
G |
13: 65,444,806 (GRCm39) |
I650V |
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 |
|
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'- TGGAACTCCAAGATCCATCAGG -3'
(R):5'- TCCTCAGAAGACCCATCATTGTC -3'
Sequencing Primer
(F):5'- TCCATCAGGATCATGAATAGGAACTG -3'
(R):5'- GACCCATCATTGTCATTTCAGGTGAG -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation