Incidental Mutation 'R6891:Tnfaip3'
ID |
537224 |
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 |
044985-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6891 (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 18887417 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 36
(I36T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120627
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019997]
[ENSMUST00000105527]
[ENSMUST00000122863]
[ENSMUST00000146388]
|
AlphaFold |
Q60769 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000019997
AA Change: I36T
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000019997 Gene: ENSMUSG00000019850 AA Change: I36T
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: I36T
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000101167 Gene: ENSMUSG00000019850 AA Change: I36T
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 damaging
Transcript: ENSMUST00000122863
AA Change: I36T
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000116318 Gene: ENSMUSG00000019850 AA Change: I36T
Domain | Start | End | E-Value | Type |
PDB:2VFJ|D
|
1 |
122 |
2e-83 |
PDB |
SCOP:d1e3ha3
|
18 |
109 |
2e-3 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000146388
AA Change: I36T
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000120627 Gene: ENSMUSG00000019850 AA Change: I36T
Domain | Start | End | E-Value | Type |
PDB:3ZJG|B
|
1 |
87 |
1e-56 |
PDB |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
Validation Efficiency |
97% (72/74) |
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actl11 |
C |
T |
9: 107,806,346 (GRCm39) |
A223V |
probably benign |
Het |
Agbl5 |
G |
T |
5: 31,052,522 (GRCm39) |
R61L |
probably damaging |
Het |
Agmat |
A |
T |
4: 141,483,192 (GRCm39) |
T209S |
probably benign |
Het |
Ankrd34a |
G |
A |
3: 96,505,335 (GRCm39) |
V180I |
probably benign |
Het |
Anks1 |
C |
T |
17: 28,276,398 (GRCm39) |
T1047M |
probably damaging |
Het |
Arhgap21 |
T |
A |
2: 20,855,142 (GRCm39) |
I1407F |
probably damaging |
Het |
Armc1 |
C |
A |
3: 19,189,205 (GRCm39) |
C183F |
probably damaging |
Het |
Atg13 |
A |
G |
2: 91,516,136 (GRCm39) |
M196T |
probably benign |
Het |
AU040320 |
G |
T |
4: 126,740,231 (GRCm39) |
S864I |
possibly damaging |
Het |
Btn2a2 |
T |
C |
13: 23,667,014 (GRCm39) |
D197G |
probably benign |
Het |
Carmil1 |
A |
G |
13: 24,325,706 (GRCm39) |
I208T |
probably benign |
Het |
Cbs |
T |
A |
17: 31,841,431 (GRCm39) |
R263S |
probably damaging |
Het |
Ccdc7a |
C |
A |
8: 129,753,119 (GRCm39) |
R204L |
probably damaging |
Het |
Cdhr1 |
A |
T |
14: 36,819,334 (GRCm39) |
|
probably null |
Het |
Cers4 |
G |
A |
8: 4,573,731 (GRCm39) |
R378Q |
probably damaging |
Het |
Chst1 |
T |
G |
2: 92,444,088 (GRCm39) |
L187V |
probably benign |
Het |
Clec4e |
A |
T |
6: 123,260,565 (GRCm39) |
N164K |
probably damaging |
Het |
Cln3 |
T |
A |
7: 126,181,975 (GRCm39) |
D29V |
possibly damaging |
Het |
Crybg2 |
A |
G |
4: 133,809,148 (GRCm39) |
S187G |
probably benign |
Het |
Ddx1 |
A |
T |
12: 13,286,096 (GRCm39) |
N285K |
probably benign |
Het |
Dmxl2 |
A |
G |
9: 54,387,664 (GRCm39) |
I58T |
probably damaging |
Het |
Dock4 |
A |
G |
12: 40,829,135 (GRCm39) |
Y1007C |
probably damaging |
Het |
Eral1 |
C |
T |
11: 77,966,559 (GRCm39) |
V234I |
possibly damaging |
Het |
Fads2b |
C |
A |
2: 85,319,149 (GRCm39) |
M384I |
possibly damaging |
Het |
Fads2b |
T |
G |
2: 85,319,157 (GRCm39) |
T382P |
probably damaging |
Het |
Fam161b |
A |
G |
12: 84,401,554 (GRCm39) |
F400S |
probably damaging |
Het |
Fmnl3 |
T |
C |
15: 99,223,754 (GRCm39) |
D314G |
probably damaging |
Het |
Foxred2 |
A |
T |
15: 77,839,909 (GRCm39) |
L127Q |
probably damaging |
Het |
Gjd2 |
G |
A |
2: 113,843,575 (GRCm39) |
A14V |
possibly damaging |
Het |
Gon4l |
A |
G |
3: 88,766,173 (GRCm39) |
|
probably null |
Het |
Gpr151 |
T |
A |
18: 42,711,985 (GRCm39) |
D231V |
probably benign |
Het |
Gzf1 |
A |
T |
2: 148,526,689 (GRCm39) |
K387* |
probably null |
Het |
Hfm1 |
T |
A |
5: 107,065,240 (GRCm39) |
K146N |
possibly damaging |
Het |
Hgf |
G |
A |
5: 16,809,920 (GRCm39) |
|
probably null |
Het |
Isoc2b |
A |
G |
7: 4,854,487 (GRCm39) |
S15P |
probably damaging |
Het |
Itga5 |
A |
G |
15: 103,265,970 (GRCm39) |
S126P |
probably damaging |
Het |
Kat6b |
A |
G |
14: 21,719,104 (GRCm39) |
D1152G |
probably benign |
Het |
Kcna4 |
C |
T |
2: 107,126,652 (GRCm39) |
S462F |
probably damaging |
Het |
Kif24 |
A |
T |
4: 41,394,168 (GRCm39) |
C902S |
probably benign |
Het |
Lama2 |
A |
T |
10: 27,204,068 (GRCm39) |
C523* |
probably null |
Het |
Lama2 |
G |
C |
10: 27,204,078 (GRCm39) |
S520* |
probably null |
Het |
Ltf |
T |
C |
9: 110,854,181 (GRCm39) |
V332A |
probably benign |
Het |
Mapkap1 |
T |
C |
2: 34,453,153 (GRCm39) |
F349L |
probably damaging |
Het |
Mdm1 |
A |
G |
10: 117,983,937 (GRCm39) |
N188D |
probably benign |
Het |
Mfn1 |
T |
C |
3: 32,631,252 (GRCm39) |
S730P |
possibly damaging |
Het |
Mrgprd |
T |
A |
7: 144,876,087 (GRCm39) |
D319E |
probably benign |
Het |
Mrps9 |
C |
A |
1: 42,944,573 (GRCm39) |
L364I |
probably damaging |
Het |
Myo1h |
C |
T |
5: 114,487,673 (GRCm39) |
R626C |
probably damaging |
Het |
Nme3 |
T |
C |
17: 25,115,829 (GRCm39) |
S61P |
probably benign |
Het |
Or2g1 |
A |
G |
17: 38,106,395 (GRCm39) |
Q20R |
probably benign |
Het |
Or52e18 |
A |
G |
7: 104,609,192 (GRCm39) |
I249T |
probably damaging |
Het |
Pald1 |
A |
G |
10: 61,184,311 (GRCm39) |
|
probably null |
Het |
Papola |
A |
T |
12: 105,775,950 (GRCm39) |
|
probably benign |
Het |
Peg10 |
GAT |
GATCAT |
6: 4,756,449 (GRCm39) |
|
probably benign |
Het |
Plch1 |
T |
C |
3: 63,605,504 (GRCm39) |
T1458A |
probably benign |
Het |
Polr3e |
A |
G |
7: 120,543,873 (GRCm39) |
Q659R |
probably damaging |
Het |
Pramel38 |
C |
A |
5: 94,365,978 (GRCm39) |
P32Q |
probably damaging |
Het |
Shoc2 |
T |
C |
19: 53,976,548 (GRCm39) |
V146A |
probably benign |
Het |
Slc15a1 |
T |
C |
14: 121,713,442 (GRCm39) |
T362A |
probably benign |
Het |
Smpd3 |
A |
G |
8: 106,991,300 (GRCm39) |
Y418H |
probably damaging |
Het |
Sorcs1 |
A |
T |
19: 50,213,557 (GRCm39) |
C723* |
probably null |
Het |
Supt7l |
T |
A |
5: 31,680,365 (GRCm39) |
N16Y |
probably damaging |
Het |
Syngr2 |
T |
C |
11: 117,703,499 (GRCm39) |
V105A |
probably damaging |
Het |
Thrb |
T |
A |
14: 17,981,899 (GRCm38) |
V8E |
probably benign |
Het |
Tlx1 |
A |
T |
19: 45,139,757 (GRCm39) |
I135F |
probably damaging |
Het |
Troap |
A |
G |
15: 98,980,569 (GRCm39) |
Y583C |
possibly damaging |
Het |
Usp17lb |
T |
C |
7: 104,490,307 (GRCm39) |
K207E |
probably benign |
Het |
Vmn2r10 |
C |
T |
5: 109,149,845 (GRCm39) |
V400M |
probably damaging |
Het |
Wdr49 |
A |
T |
3: 75,240,590 (GRCm39) |
|
probably null |
Het |
Wdr64 |
G |
T |
1: 175,533,634 (GRCm39) |
W90L |
probably damaging |
Het |
Yme1l1 |
A |
G |
2: 23,085,401 (GRCm39) |
E662G |
probably damaging |
Het |
Zfp334 |
C |
T |
2: 165,224,644 (GRCm39) |
V68I |
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 |
R6853:Tnfaip3
|
UTSW |
10 |
18,879,499 (GRCm39) |
missense |
probably benign |
|
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'- CTCTGGTTAATACGAGGGTACTGG -3'
(R):5'- TGTTAAAGGCAGCCTAACGG -3'
Sequencing Primer
(F):5'- CCATTGGTTTTCAGAGCCACGAG -3'
(R):5'- CAGCCTAACGGAATGGGCTTTAC -3'
|
Posted On |
2018-10-18 |