Incidental Mutation 'PIT4480001:Tnfaip3'
ID |
554870 |
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 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
PIT4480001 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
18876658-18891158 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 18883071 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 165
(N165D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000019997
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019997]
[ENSMUST00000105527]
[ENSMUST00000122863]
[ENSMUST00000146388]
|
AlphaFold |
Q60769 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000019997
AA Change: N165D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000019997 Gene: ENSMUSG00000019850 AA Change: N165D
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: N165D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000101167 Gene: ENSMUSG00000019850 AA Change: N165D
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 |
|
Coding Region Coverage |
- 1x: 93.3%
- 3x: 90.7%
- 10x: 83.8%
- 20x: 69.1%
|
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actn3 |
G |
A |
19: 4,917,605 (GRCm39) |
Q413* |
probably null |
Het |
Ahnak2 |
C |
T |
12: 112,740,358 (GRCm39) |
S1238N |
possibly damaging |
Het |
Arsk |
T |
C |
13: 76,210,484 (GRCm39) |
E521G |
probably damaging |
Het |
Baiap2 |
A |
G |
11: 119,887,913 (GRCm39) |
T356A |
probably benign |
Het |
Baz1b |
G |
A |
5: 135,246,819 (GRCm39) |
R756H |
probably damaging |
Het |
Celsr1 |
G |
A |
15: 85,916,615 (GRCm39) |
P453S |
probably damaging |
Het |
Cep41 |
G |
A |
6: 30,658,412 (GRCm39) |
P196S |
probably damaging |
Het |
Cln5 |
T |
A |
14: 103,309,214 (GRCm39) |
Y89* |
probably null |
Het |
Cntnap3 |
A |
G |
13: 64,905,024 (GRCm39) |
F919S |
probably damaging |
Het |
Cntrl |
C |
T |
2: 35,045,440 (GRCm39) |
H1383Y |
probably damaging |
Het |
Cobl |
A |
G |
11: 12,203,592 (GRCm39) |
S1037P |
probably benign |
Het |
Col17a1 |
A |
T |
19: 47,659,813 (GRCm39) |
S380T |
probably benign |
Het |
Cyrib |
G |
A |
15: 63,828,490 (GRCm39) |
T11I |
probably benign |
Het |
Dagla |
A |
T |
19: 10,238,022 (GRCm39) |
S323T |
probably benign |
Het |
Dicer1 |
G |
T |
12: 104,662,803 (GRCm39) |
Q1593K |
probably benign |
Het |
Dnah6 |
T |
C |
6: 73,078,863 (GRCm39) |
I2367V |
probably benign |
Het |
Emc1 |
T |
C |
4: 139,086,588 (GRCm39) |
S184P |
possibly damaging |
Het |
Eps8l1 |
G |
A |
7: 4,474,414 (GRCm39) |
S295N |
probably benign |
Het |
Erbb4 |
A |
T |
1: 68,114,702 (GRCm39) |
M914K |
probably damaging |
Het |
Eva1a |
A |
G |
6: 82,068,784 (GRCm39) |
E37G |
probably damaging |
Het |
Fyco1 |
G |
T |
9: 123,657,715 (GRCm39) |
Y820* |
probably null |
Het |
Gipr |
T |
C |
7: 18,896,859 (GRCm39) |
Y137C |
probably damaging |
Het |
Gm5414 |
A |
G |
15: 101,536,181 (GRCm39) |
V148A |
probably damaging |
Het |
Gpn1 |
T |
C |
5: 31,654,685 (GRCm39) |
V79A |
probably damaging |
Het |
Grk2 |
G |
A |
19: 4,337,437 (GRCm39) |
R617C |
possibly damaging |
Het |
Inpp4b |
A |
C |
8: 82,772,896 (GRCm39) |
E730A |
probably damaging |
Het |
Inpp5f |
C |
T |
7: 128,286,858 (GRCm39) |
T579I |
probably benign |
Het |
Kif15 |
A |
T |
9: 122,840,608 (GRCm39) |
M1201L |
probably benign |
Het |
Ltbp3 |
A |
G |
19: 5,801,254 (GRCm39) |
N631S |
possibly damaging |
Het |
Mdh1 |
G |
A |
11: 21,508,538 (GRCm39) |
S268L |
probably damaging |
Het |
Mgat4e |
T |
A |
1: 134,469,103 (GRCm39) |
T314S |
possibly damaging |
Het |
Nsd1 |
A |
G |
13: 55,361,731 (GRCm39) |
Q233R |
probably benign |
Het |
Or11g1 |
T |
C |
14: 50,651,372 (GRCm39) |
F124L |
probably benign |
Het |
Or5w17 |
T |
C |
2: 87,584,127 (GRCm39) |
D70G |
possibly damaging |
Het |
Paqr5 |
T |
A |
9: 61,863,438 (GRCm39) |
I295L |
probably benign |
Het |
Peg10 |
C |
T |
6: 4,756,560 (GRCm39) |
H379Y |
unknown |
Het |
Phtf2 |
A |
T |
5: 21,018,242 (GRCm39) |
I33N |
probably damaging |
Het |
Plcb2 |
T |
C |
2: 118,553,977 (GRCm39) |
M115V |
probably benign |
Het |
Ppp2r3d |
A |
G |
9: 101,003,576 (GRCm39) |
Y431H |
possibly damaging |
Het |
Prph2 |
GT |
G |
17: 47,222,039 (GRCm39) |
|
probably null |
Het |
Psmd1 |
C |
T |
1: 86,055,960 (GRCm39) |
P774L |
probably damaging |
Het |
Ranbp17 |
A |
T |
11: 33,247,340 (GRCm39) |
|
probably null |
Het |
Rptn |
A |
G |
3: 93,304,977 (GRCm39) |
D770G |
possibly damaging |
Het |
Serac1 |
A |
G |
17: 6,101,087 (GRCm39) |
L439P |
probably damaging |
Het |
Slitrk6 |
TTTTAGTCTGTTCTACCAACACCTT |
TTT |
14: 110,987,257 (GRCm39) |
|
probably null |
Het |
Sox6 |
T |
C |
7: 115,196,744 (GRCm39) |
I295M |
probably benign |
Het |
Spata31h1 |
T |
C |
10: 82,119,586 (GRCm39) |
M4475V |
probably benign |
Het |
Sulf1 |
T |
A |
1: 12,929,637 (GRCm39) |
D301E |
probably benign |
Het |
Tas2r117 |
G |
A |
6: 132,780,014 (GRCm39) |
V51I |
possibly damaging |
Het |
Tbx2 |
C |
T |
11: 85,725,561 (GRCm39) |
R171C |
probably damaging |
Het |
Tgfbr1 |
A |
G |
4: 47,402,955 (GRCm39) |
I320V |
probably benign |
Het |
Tjp3 |
C |
A |
10: 81,115,091 (GRCm39) |
G396W |
probably damaging |
Het |
Tmprss2 |
T |
C |
16: 97,400,460 (GRCm39) |
N4D |
possibly damaging |
Het |
Tnfrsf21 |
A |
T |
17: 43,348,802 (GRCm39) |
Y138F |
probably benign |
Het |
Utp4 |
T |
C |
8: 107,632,817 (GRCm39) |
S267P |
probably benign |
Het |
Wnk1 |
A |
T |
6: 119,940,328 (GRCm39) |
L803* |
probably null |
Het |
Zbbx |
T |
A |
3: 75,043,794 (GRCm39) |
D35V |
probably damaging |
Het |
Zscan12 |
T |
G |
13: 21,552,744 (GRCm39) |
N189K |
possibly damaging |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGAGCTGAAACTCACCCAGG -3'
(R):5'- GCAAATGCTGTCTGTATCTCC -3'
Sequencing Primer
(F):5'- GGAACCTAGAAACTCTCTGAGGC -3'
(R):5'- ATCAGTTTTGAGCTTGCCCAG -3'
|
Posted On |
2019-06-07 |