Incidental Mutation 'IGL02318:Tnfaip3'
| ID |
288117 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tnfaip3
|
| Ensembl Gene |
ENSMUSG00000019850 |
| Gene Name |
tumor necrosis factor, alpha-induced protein 3 |
| Synonyms |
A20, Tnfip3, zinc finger protein A20 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02318
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
18876658-18891158 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 18880215 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 617
(R617S)
|
| 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: R617S
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000019997
Gene: ENSMUSG00000019850
AA Change: R617S
| 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: R617S
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000101167
Gene: ENSMUSG00000019850
AA Change: R617S
| 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 |
noncoding transcript
Transcript: ENSMUST00000154590
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154749
|
| Coding Region Coverage |
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700123K08Rik |
A |
G |
5: 138,561,838 (GRCm39) |
F116S |
probably damaging |
Het |
| Abhd18 |
G |
A |
3: 40,884,662 (GRCm39) |
|
probably null |
Het |
| Akr1c6 |
G |
T |
13: 4,488,496 (GRCm39) |
C34F |
probably benign |
Het |
| Ankef1 |
T |
A |
2: 136,386,695 (GRCm39) |
I180N |
possibly damaging |
Het |
| Ap1b1 |
G |
A |
11: 4,969,294 (GRCm39) |
V217I |
probably benign |
Het |
| Arhgap27 |
T |
C |
11: 103,223,989 (GRCm39) |
Q608R |
probably benign |
Het |
| Arhgap32 |
A |
G |
9: 32,170,627 (GRCm39) |
T1136A |
probably benign |
Het |
| Ascc3 |
T |
A |
10: 50,604,250 (GRCm39) |
Y1323* |
probably null |
Het |
| Bsx |
A |
C |
9: 40,785,517 (GRCm39) |
Q15P |
probably benign |
Het |
| Cdh20 |
A |
G |
1: 104,881,764 (GRCm39) |
I410V |
probably null |
Het |
| Cfhr4 |
T |
A |
1: 139,708,835 (GRCm39) |
E24D |
probably benign |
Het |
| Col20a1 |
A |
G |
2: 180,648,952 (GRCm39) |
D945G |
probably damaging |
Het |
| Cox20 |
A |
G |
1: 178,150,043 (GRCm39) |
|
probably null |
Het |
| Cplane1 |
A |
G |
15: 8,204,509 (GRCm39) |
K96E |
probably damaging |
Het |
| Cpne9 |
A |
G |
6: 113,270,699 (GRCm39) |
D305G |
possibly damaging |
Het |
| Cyp2d12 |
A |
G |
15: 82,439,444 (GRCm39) |
T33A |
probably benign |
Het |
| Dvl3 |
A |
G |
16: 20,342,493 (GRCm39) |
R149G |
possibly damaging |
Het |
| Dysf |
A |
G |
6: 84,163,446 (GRCm39) |
I1624V |
possibly damaging |
Het |
| Echs1 |
A |
T |
7: 139,691,623 (GRCm39) |
L167Q |
probably damaging |
Het |
| Ect2 |
A |
T |
3: 27,192,868 (GRCm39) |
N358K |
probably benign |
Het |
| Eml4 |
A |
G |
17: 83,748,795 (GRCm39) |
I230V |
probably benign |
Het |
| Fut10 |
A |
G |
8: 31,726,286 (GRCm39) |
Y347C |
probably damaging |
Het |
| Gfm2 |
C |
A |
13: 97,299,483 (GRCm39) |
N401K |
probably damaging |
Het |
| Gm4795 |
C |
T |
10: 44,882,735 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5592 |
C |
A |
7: 40,936,212 (GRCm39) |
T238N |
probably benign |
Het |
| Gm9892 |
T |
C |
8: 52,649,260 (GRCm39) |
|
noncoding transcript |
Het |
| Greb1l |
G |
T |
18: 10,469,388 (GRCm39) |
M134I |
possibly damaging |
Het |
| Grk3 |
A |
G |
5: 113,085,669 (GRCm39) |
Y314H |
probably damaging |
Het |
| Hrh2 |
T |
C |
13: 54,368,669 (GRCm39) |
I215T |
probably damaging |
Het |
| Ilkap |
A |
G |
1: 91,312,960 (GRCm39) |
|
probably null |
Het |
| Inpp4a |
T |
C |
1: 37,407,384 (GRCm39) |
Y233H |
probably damaging |
Het |
| Itgb4 |
G |
A |
11: 115,879,752 (GRCm39) |
V635I |
probably damaging |
Het |
| Lmo7 |
C |
T |
14: 102,137,502 (GRCm39) |
|
probably benign |
Het |
| Luc7l3 |
C |
T |
11: 94,183,819 (GRCm39) |
R440Q |
probably benign |
Het |
| Mis18bp1 |
A |
C |
12: 65,205,515 (GRCm39) |
I219S |
probably benign |
Het |
| Myo9b |
G |
A |
8: 71,806,768 (GRCm39) |
E1581K |
probably damaging |
Het |
| Nfs1 |
T |
A |
2: 155,966,191 (GRCm39) |
Q458L |
probably damaging |
Het |
| Numb |
A |
T |
12: 83,878,692 (GRCm39) |
|
probably null |
Het |
| Nxf1 |
G |
A |
19: 8,741,514 (GRCm39) |
|
probably null |
Het |
| Or2n1 |
G |
T |
17: 38,486,577 (GRCm39) |
V201L |
probably benign |
Het |
| Or52z1 |
A |
G |
7: 103,437,475 (GRCm39) |
V3A |
probably benign |
Het |
| Pacc1 |
A |
G |
1: 191,080,605 (GRCm39) |
E275G |
possibly damaging |
Het |
| Pde2a |
A |
T |
7: 101,152,550 (GRCm39) |
Y371F |
possibly damaging |
Het |
| Phlpp2 |
G |
T |
8: 110,666,505 (GRCm39) |
L1011F |
probably benign |
Het |
| Potefam3e |
T |
C |
8: 19,797,815 (GRCm39) |
|
probably null |
Het |
| Prss27 |
G |
T |
17: 24,264,571 (GRCm39) |
V245L |
probably benign |
Het |
| Rbm7 |
T |
C |
9: 48,405,411 (GRCm39) |
N56S |
probably damaging |
Het |
| Rftn1 |
T |
C |
17: 50,343,998 (GRCm39) |
I97V |
possibly damaging |
Het |
| Ric3 |
T |
C |
7: 108,647,287 (GRCm39) |
T178A |
probably damaging |
Het |
| Rock1 |
A |
G |
18: 10,104,323 (GRCm39) |
|
probably benign |
Het |
| Sall2 |
T |
C |
14: 52,553,022 (GRCm39) |
T56A |
probably damaging |
Het |
| Sgk1 |
T |
C |
10: 21,871,440 (GRCm39) |
S60P |
probably damaging |
Het |
| Smarcad1 |
G |
A |
6: 65,050,223 (GRCm39) |
A281T |
probably damaging |
Het |
| Spta1 |
A |
G |
1: 174,002,029 (GRCm39) |
H53R |
possibly damaging |
Het |
| Thbs4 |
T |
C |
13: 92,900,092 (GRCm39) |
D468G |
probably damaging |
Het |
| Tmem108 |
A |
T |
9: 103,376,981 (GRCm39) |
V156E |
probably benign |
Het |
| Traf3 |
A |
G |
12: 111,204,031 (GRCm39) |
M7V |
probably benign |
Het |
| Ubr3 |
T |
A |
2: 69,809,741 (GRCm39) |
I1237N |
probably damaging |
Het |
| Vmn2r23 |
T |
C |
6: 123,718,795 (GRCm39) |
V716A |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation