Incidental Mutation 'R1165:Traf3ip3'
ID |
100898 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Traf3ip3
|
Ensembl Gene |
ENSMUSG00000037318 |
Gene Name |
TRAF3 interacting protein 3 |
Synonyms |
6030423D04Rik |
MMRRC Submission |
039238-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1165 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
192857812-192883854 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 192866786 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Alanine
at position 349
(S349A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141698
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043550]
[ENSMUST00000159666]
[ENSMUST00000192020]
[ENSMUST00000194278]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000043550
AA Change: S349A
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000040977 Gene: ENSMUSG00000037318 AA Change: S349A
Domain | Start | End | E-Value | Type |
low complexity region
|
23 |
44 |
N/A |
INTRINSIC |
coiled coil region
|
279 |
486 |
N/A |
INTRINSIC |
transmembrane domain
|
487 |
506 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159666
|
Predicted Effect |
unknown
Transcript: ENSMUST00000160302
AA Change: S51A
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160332
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161403
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162454
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162480
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000192020
AA Change: S349A
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000141698 Gene: ENSMUSG00000037318 AA Change: S349A
Domain | Start | End | E-Value | Type |
low complexity region
|
23 |
44 |
N/A |
INTRINSIC |
coiled coil region
|
279 |
486 |
N/A |
INTRINSIC |
transmembrane domain
|
487 |
506 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000194278
|
SMART Domains |
Protein: ENSMUSP00000141661 Gene: ENSMUSG00000037318
Domain | Start | End | E-Value | Type |
low complexity region
|
23 |
44 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0787 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.4%
|
Validation Efficiency |
98% (50/51) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gene encodes a protein that mediates cell growth by modulating the c-Jun N-terminal kinase signal transduction pathway. The encoded protein may also interact with a large multi-protein assembly containing the phosphatase 2A catalytic subunit. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013] PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired single positive thymocyte development and increased gamma-delta T cell numbers. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
T |
G |
13: 77,482,406 (GRCm39) |
C1209G |
probably benign |
Het |
Abcg2 |
C |
A |
6: 58,655,285 (GRCm39) |
L407I |
probably benign |
Het |
Adtrp |
A |
G |
13: 41,967,779 (GRCm39) |
V56A |
probably damaging |
Het |
Angptl6 |
T |
G |
9: 20,789,604 (GRCm39) |
N96T |
probably benign |
Het |
Ank3 |
C |
A |
10: 69,734,132 (GRCm39) |
N780K |
possibly damaging |
Het |
AU040320 |
A |
T |
4: 126,717,433 (GRCm39) |
|
probably benign |
Het |
Best2 |
C |
T |
8: 85,737,789 (GRCm39) |
R202H |
probably benign |
Het |
Bod1l |
A |
T |
5: 41,978,396 (GRCm39) |
S973T |
probably benign |
Het |
Brca2 |
T |
A |
5: 150,466,212 (GRCm39) |
V1992E |
probably damaging |
Het |
Casp8ap2 |
C |
T |
4: 32,640,563 (GRCm39) |
P539L |
probably benign |
Het |
Ccr1 |
A |
T |
9: 123,763,531 (GRCm39) |
V333E |
possibly damaging |
Het |
Celf5 |
A |
T |
10: 81,307,172 (GRCm39) |
V83E |
probably damaging |
Het |
Col15a1 |
T |
C |
4: 47,257,275 (GRCm39) |
|
probably benign |
Het |
Coro1b |
C |
A |
19: 4,199,901 (GRCm39) |
H81N |
probably damaging |
Het |
Cwc22 |
A |
T |
2: 77,734,242 (GRCm39) |
S686T |
probably damaging |
Het |
Cyp2d26 |
C |
A |
15: 82,678,242 (GRCm39) |
G45W |
probably damaging |
Het |
Dysf |
T |
A |
6: 84,044,051 (GRCm39) |
N297K |
probably damaging |
Het |
Edem1 |
T |
A |
6: 108,828,214 (GRCm39) |
L513Q |
probably damaging |
Het |
Erich1 |
G |
A |
8: 14,140,530 (GRCm39) |
|
probably benign |
Het |
Fam91a1 |
T |
C |
15: 58,302,518 (GRCm39) |
V286A |
possibly damaging |
Het |
Fdxr |
C |
A |
11: 115,162,608 (GRCm39) |
|
probably benign |
Het |
Gas7 |
T |
C |
11: 67,561,512 (GRCm39) |
|
probably benign |
Het |
Glb1l2 |
T |
C |
9: 26,705,397 (GRCm39) |
D151G |
probably damaging |
Het |
Gm14410 |
A |
C |
2: 176,885,282 (GRCm39) |
Y327* |
probably null |
Het |
Grep1 |
A |
C |
17: 23,929,489 (GRCm39) |
|
probably benign |
Het |
H6pd |
A |
G |
4: 150,080,413 (GRCm39) |
I136T |
possibly damaging |
Het |
Hectd1 |
A |
T |
12: 51,810,947 (GRCm39) |
|
probably benign |
Het |
Hipk1 |
T |
C |
3: 103,668,840 (GRCm39) |
T519A |
possibly damaging |
Het |
Hpd |
A |
G |
5: 123,314,153 (GRCm39) |
|
probably null |
Het |
Insyn2b |
A |
G |
11: 34,352,740 (GRCm39) |
T261A |
probably benign |
Het |
Or6c76 |
A |
G |
10: 129,612,302 (GRCm39) |
D188G |
probably damaging |
Het |
Or7c19 |
T |
A |
8: 85,957,400 (GRCm39) |
I92N |
probably damaging |
Het |
Pcdha11 |
A |
G |
18: 37,140,757 (GRCm39) |
|
probably benign |
Het |
Pdgfrb |
T |
C |
18: 61,197,074 (GRCm39) |
I170T |
probably benign |
Het |
Rasgrp1 |
A |
T |
2: 117,115,420 (GRCm39) |
F723I |
possibly damaging |
Het |
Retnlg |
A |
G |
16: 48,694,017 (GRCm39) |
T58A |
possibly damaging |
Het |
Rrs1 |
G |
A |
1: 9,615,992 (GRCm39) |
E82K |
probably damaging |
Het |
Rtel1 |
A |
G |
2: 180,976,732 (GRCm39) |
K243E |
probably benign |
Het |
Slc19a2 |
G |
A |
1: 164,091,014 (GRCm39) |
G274D |
probably damaging |
Het |
Slc22a27 |
T |
C |
19: 7,887,059 (GRCm39) |
|
probably null |
Het |
Slc6a1 |
T |
C |
6: 114,288,790 (GRCm39) |
F266L |
probably damaging |
Het |
Snx25 |
T |
G |
8: 46,488,752 (GRCm39) |
I868L |
probably damaging |
Het |
Spag16 |
A |
G |
1: 70,036,036 (GRCm39) |
I355V |
probably benign |
Het |
Tmem198 |
A |
T |
1: 75,456,576 (GRCm39) |
|
probably benign |
Het |
Trim17 |
A |
G |
11: 58,862,041 (GRCm39) |
N358D |
possibly damaging |
Het |
Trmu |
A |
G |
15: 85,776,875 (GRCm39) |
T196A |
probably damaging |
Het |
Tsen2 |
A |
G |
6: 115,538,396 (GRCm39) |
Y291C |
probably damaging |
Het |
Vps13d |
A |
G |
4: 144,853,041 (GRCm39) |
F2358L |
probably benign |
Het |
Wnt2 |
T |
C |
6: 17,989,946 (GRCm39) |
H317R |
probably benign |
Het |
Zfp120 |
A |
T |
2: 149,961,849 (GRCm39) |
V33E |
probably damaging |
Het |
Zfp407 |
C |
T |
18: 84,577,898 (GRCm39) |
A1072T |
probably benign |
Het |
|
Other mutations in Traf3ip3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00465:Traf3ip3
|
APN |
1 |
192,877,128 (GRCm39) |
intron |
probably benign |
|
IGL00663:Traf3ip3
|
APN |
1 |
192,869,446 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01125:Traf3ip3
|
APN |
1 |
192,866,772 (GRCm39) |
splice site |
probably null |
|
IGL01308:Traf3ip3
|
APN |
1 |
192,867,199 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01608:Traf3ip3
|
APN |
1 |
192,869,418 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02225:Traf3ip3
|
APN |
1 |
192,877,408 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02432:Traf3ip3
|
APN |
1 |
192,866,884 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03102:Traf3ip3
|
APN |
1 |
192,877,385 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03179:Traf3ip3
|
APN |
1 |
192,876,676 (GRCm39) |
missense |
probably damaging |
1.00 |
Flare
|
UTSW |
1 |
192,877,119 (GRCm39) |
intron |
probably benign |
|
sunspot
|
UTSW |
1 |
192,876,823 (GRCm39) |
splice site |
probably null |
|
IGL02988:Traf3ip3
|
UTSW |
1 |
192,877,182 (GRCm39) |
splice site |
probably null |
|
R0110:Traf3ip3
|
UTSW |
1 |
192,860,539 (GRCm39) |
splice site |
probably null |
|
R0469:Traf3ip3
|
UTSW |
1 |
192,860,539 (GRCm39) |
splice site |
probably null |
|
R0510:Traf3ip3
|
UTSW |
1 |
192,860,539 (GRCm39) |
splice site |
probably null |
|
R0529:Traf3ip3
|
UTSW |
1 |
192,877,119 (GRCm39) |
intron |
probably benign |
|
R1559:Traf3ip3
|
UTSW |
1 |
192,860,599 (GRCm39) |
missense |
probably damaging |
0.99 |
R1729:Traf3ip3
|
UTSW |
1 |
192,864,201 (GRCm39) |
missense |
probably benign |
0.01 |
R1896:Traf3ip3
|
UTSW |
1 |
192,858,042 (GRCm39) |
missense |
probably benign |
|
R4085:Traf3ip3
|
UTSW |
1 |
192,863,628 (GRCm39) |
missense |
probably damaging |
0.98 |
R4086:Traf3ip3
|
UTSW |
1 |
192,863,628 (GRCm39) |
missense |
probably damaging |
0.98 |
R4087:Traf3ip3
|
UTSW |
1 |
192,863,628 (GRCm39) |
missense |
probably damaging |
0.98 |
R4088:Traf3ip3
|
UTSW |
1 |
192,863,628 (GRCm39) |
missense |
probably damaging |
0.98 |
R4090:Traf3ip3
|
UTSW |
1 |
192,863,628 (GRCm39) |
missense |
probably damaging |
0.98 |
R4258:Traf3ip3
|
UTSW |
1 |
192,880,254 (GRCm39) |
missense |
probably damaging |
1.00 |
R4817:Traf3ip3
|
UTSW |
1 |
192,867,137 (GRCm39) |
missense |
probably damaging |
1.00 |
R5299:Traf3ip3
|
UTSW |
1 |
192,860,483 (GRCm39) |
nonsense |
probably null |
|
R5906:Traf3ip3
|
UTSW |
1 |
192,880,314 (GRCm39) |
missense |
possibly damaging |
0.55 |
R6268:Traf3ip3
|
UTSW |
1 |
192,880,344 (GRCm39) |
start gained |
probably benign |
|
R6374:Traf3ip3
|
UTSW |
1 |
192,864,318 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8155:Traf3ip3
|
UTSW |
1 |
192,860,524 (GRCm39) |
missense |
probably damaging |
1.00 |
R8527:Traf3ip3
|
UTSW |
1 |
192,876,851 (GRCm39) |
missense |
probably damaging |
1.00 |
R8536:Traf3ip3
|
UTSW |
1 |
192,876,823 (GRCm39) |
splice site |
probably null |
|
R8542:Traf3ip3
|
UTSW |
1 |
192,876,851 (GRCm39) |
missense |
probably damaging |
1.00 |
R8946:Traf3ip3
|
UTSW |
1 |
192,869,415 (GRCm39) |
missense |
probably damaging |
1.00 |
R9005:Traf3ip3
|
UTSW |
1 |
192,864,285 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
|
Posted On |
2014-01-15 |