Incidental Mutation 'R8552:Tnfaip3'
| ID |
659914 |
| 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 # |
R8552 (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 18880213 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 618
(E618G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101167
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019997]
[ENSMUST00000105527]
[ENSMUST00000122863]
|
| AlphaFold |
Q60769 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000019997
AA Change: E618G
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000019997
Gene: ENSMUSG00000019850
AA Change: E618G
| 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: E618G
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000101167
Gene: ENSMUSG00000019850
AA Change: E618G
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg2 |
A |
G |
6: 58,646,210 (GRCm39) |
H242R |
possibly damaging |
Het |
| Adam1b |
G |
T |
5: 121,639,504 (GRCm39) |
R514S |
probably benign |
Het |
| Adprs |
A |
G |
4: 126,210,368 (GRCm39) |
*371Q |
probably null |
Het |
| Arid4a |
T |
C |
12: 71,106,849 (GRCm39) |
L307P |
probably benign |
Het |
| Armc12 |
C |
T |
17: 28,757,675 (GRCm39) |
A269V |
probably benign |
Het |
| Asb1 |
T |
A |
1: 91,480,078 (GRCm39) |
V259E |
probably damaging |
Het |
| Atm |
T |
C |
9: 53,435,797 (GRCm39) |
Y171C |
probably damaging |
Het |
| Atp8a2 |
A |
T |
14: 60,011,431 (GRCm39) |
F959L |
probably benign |
Het |
| B4galt3 |
G |
T |
1: 171,101,917 (GRCm39) |
E34D |
possibly damaging |
Het |
| Cacna1i |
A |
G |
15: 80,204,598 (GRCm39) |
N90S |
possibly damaging |
Het |
| Cdc42ep2 |
T |
A |
19: 5,968,060 (GRCm39) |
*215L |
probably null |
Het |
| Cep162 |
C |
T |
9: 87,126,361 (GRCm39) |
E184K |
probably benign |
Het |
| Cnga3 |
C |
T |
1: 37,284,060 (GRCm39) |
P121L |
probably benign |
Het |
| Cpt1b |
G |
A |
15: 89,306,524 (GRCm39) |
R285C |
probably damaging |
Het |
| Defb18 |
T |
C |
1: 18,306,791 (GRCm39) |
Y55C |
probably damaging |
Het |
| Depdc1b |
C |
T |
13: 108,493,959 (GRCm39) |
P116S |
probably damaging |
Het |
| Dhx16 |
C |
T |
17: 36,192,183 (GRCm39) |
A74V |
possibly damaging |
Het |
| Dnajc21 |
A |
T |
15: 10,464,005 (GRCm39) |
Y53* |
probably null |
Het |
| Dse |
T |
C |
10: 34,028,316 (GRCm39) |
R925G |
possibly damaging |
Het |
| Dsp |
C |
T |
13: 38,369,117 (GRCm39) |
L738F |
probably damaging |
Het |
| Erv3 |
T |
C |
2: 131,698,261 (GRCm39) |
K33E |
possibly damaging |
Het |
| Gas2l2 |
T |
A |
11: 83,312,907 (GRCm39) |
T802S |
probably benign |
Het |
| Gdf9 |
T |
C |
11: 53,324,378 (GRCm39) |
L49S |
possibly damaging |
Het |
| Gigyf1 |
G |
T |
5: 137,521,401 (GRCm39) |
|
probably benign |
Het |
| Gm4792 |
T |
A |
10: 94,131,061 (GRCm39) |
I83L |
unknown |
Het |
| Ighv9-3 |
A |
G |
12: 114,104,349 (GRCm39) |
L105P |
probably damaging |
Het |
| Krtap5-1 |
C |
A |
7: 141,850,160 (GRCm39) |
W189L |
probably null |
Het |
| Krtap5-3 |
T |
A |
7: 141,756,089 (GRCm39) |
|
probably benign |
Het |
| Lrp1b |
T |
A |
2: 41,298,993 (GRCm39) |
E108D |
probably benign |
Het |
| Lrrc66 |
G |
A |
5: 73,768,228 (GRCm39) |
P238S |
probably benign |
Het |
| Ms4a4c |
C |
T |
19: 11,392,196 (GRCm39) |
Q6* |
probably null |
Het |
| Or5b97 |
A |
G |
19: 12,879,096 (GRCm39) |
L16P |
probably damaging |
Het |
| Or6d14 |
G |
T |
6: 116,534,289 (GRCm39) |
R301L |
probably damaging |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Pinx1 |
A |
G |
14: 64,156,972 (GRCm39) |
R300G |
probably benign |
Het |
| Pkd1 |
T |
A |
17: 24,810,443 (GRCm39) |
H92Q |
probably damaging |
Het |
| Rad54l2 |
T |
A |
9: 106,570,777 (GRCm39) |
Q1181L |
possibly damaging |
Het |
| Rbl1 |
A |
T |
2: 157,038,174 (GRCm39) |
V131E |
probably damaging |
Het |
| Rbp3 |
A |
G |
14: 33,677,621 (GRCm39) |
E523G |
probably benign |
Het |
| Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
| Slc22a20 |
C |
A |
19: 6,035,698 (GRCm39) |
C130F |
probably damaging |
Het |
| Smcr8 |
T |
C |
11: 60,670,979 (GRCm39) |
L709S |
probably damaging |
Het |
| Spef2 |
A |
G |
15: 9,600,765 (GRCm39) |
|
probably benign |
Het |
| Teddm1b |
T |
A |
1: 153,750,194 (GRCm39) |
M1K |
probably null |
Het |
| Tes |
A |
G |
6: 17,097,327 (GRCm39) |
Y60C |
probably damaging |
Het |
| Tmem104 |
T |
C |
11: 115,088,144 (GRCm39) |
L43P |
probably damaging |
Het |
| Tnrc6a |
CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT |
CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT |
7: 122,761,669 (GRCm39) |
|
probably benign |
Het |
| Trim30b |
T |
A |
7: 104,015,236 (GRCm39) |
T51S |
probably benign |
Het |
| Trmt44 |
G |
T |
5: 35,722,744 (GRCm39) |
H441Q |
probably benign |
Het |
| Tshr |
C |
A |
12: 91,504,059 (GRCm39) |
D332E |
probably benign |
Het |
| Usp10 |
C |
T |
8: 120,683,367 (GRCm39) |
T746M |
possibly damaging |
Het |
| Vmn1r8 |
A |
T |
6: 57,013,138 (GRCm39) |
D63V |
possibly damaging |
Het |
| Vps13a |
A |
C |
19: 16,731,684 (GRCm39) |
L143V |
probably damaging |
Het |
| Wnt3a |
T |
A |
11: 59,166,043 (GRCm39) |
H79L |
probably damaging |
Het |
| Zbtb7a |
C |
T |
10: 80,980,141 (GRCm39) |
R112W |
probably 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 |
|
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 |
|
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'- CCATGGTAACTAGAGCTGCTG -3'
(R):5'- TGTTTCAAAAGGACTACAGCAGAG -3'
Sequencing Primer
(F):5'- CATGGTAACTAGAGCTGCTGTCTAC -3'
(R):5'- TGTCACCAACGCTCCAAGTCTG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation