Incidental Mutation 'R8536:Traf3ip3'
ID |
660786 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Traf3ip3
|
Ensembl Gene |
ENSMUSG00000037318 |
Gene Name |
TRAF3 interacting protein 3 |
Synonyms |
6030423D04Rik |
MMRRC Submission |
067890-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8536 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
192857812-192883854 bp(-) (GRCm39) |
Type of Mutation |
splice site (5 bp from exon) |
DNA Base Change (assembly) |
C to T
at 192876823 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141698
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043550]
[ENSMUST00000161367]
[ENSMUST00000192020]
[ENSMUST00000194278]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000043550
|
SMART Domains |
Protein: ENSMUSP00000040977 Gene: ENSMUSG00000037318
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: ENSMUST00000161367
|
SMART Domains |
Protein: ENSMUSP00000141358 Gene: ENSMUSG00000037318
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
28 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162480
|
Predicted Effect |
probably null
Transcript: ENSMUST00000192020
|
SMART Domains |
Protein: ENSMUSP00000141698 Gene: ENSMUSG00000037318
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 |
0.9756 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
100% (43/43) |
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930505A04Rik |
C |
T |
11: 30,376,217 (GRCm39) |
V217M |
probably benign |
Het |
Abca4 |
A |
G |
3: 121,973,394 (GRCm39) |
Q1074R |
probably benign |
Het |
Ablim1 |
T |
C |
19: 57,170,718 (GRCm39) |
|
probably benign |
Het |
Acox2 |
A |
T |
14: 8,256,081 (GRCm38) |
D79E |
probably benign |
Het |
Bpifb9b |
A |
G |
2: 154,158,197 (GRCm39) |
I440V |
probably benign |
Het |
Ccdc7a |
T |
A |
8: 129,516,601 (GRCm39) |
T118S |
possibly damaging |
Het |
Cntln |
T |
C |
4: 84,875,286 (GRCm39) |
I240T |
probably damaging |
Het |
Col15a1 |
T |
C |
4: 47,208,536 (GRCm39) |
|
probably null |
Het |
Cox18 |
A |
G |
5: 90,362,877 (GRCm39) |
F326S |
probably damaging |
Het |
Dnm1l |
C |
A |
16: 16,176,639 (GRCm39) |
V31L |
probably benign |
Het |
Dst |
C |
A |
1: 34,236,327 (GRCm39) |
L3578M |
possibly damaging |
Het |
Fbxw24 |
G |
A |
9: 109,452,599 (GRCm39) |
T132I |
probably damaging |
Het |
Fchsd1 |
A |
G |
18: 38,100,823 (GRCm39) |
V120A |
probably benign |
Het |
Fibcd1 |
T |
C |
2: 31,706,643 (GRCm39) |
E396G |
probably damaging |
Het |
Fryl |
G |
T |
5: 73,257,696 (GRCm39) |
T702K |
probably damaging |
Het |
Gatb |
A |
T |
3: 85,511,868 (GRCm39) |
I208F |
probably damaging |
Het |
Gzmd |
T |
C |
14: 56,367,158 (GRCm39) |
I245V |
probably damaging |
Het |
Lats2 |
G |
A |
14: 57,940,495 (GRCm39) |
A119V |
probably damaging |
Het |
Lztfl1 |
A |
T |
9: 123,540,119 (GRCm39) |
F129L |
probably benign |
Het |
Meak7 |
T |
C |
8: 120,490,787 (GRCm39) |
N320S |
probably benign |
Het |
Mmp2 |
A |
T |
8: 93,557,253 (GRCm39) |
Y53F |
probably damaging |
Het |
Mttp |
G |
A |
3: 137,810,704 (GRCm39) |
R637C |
probably damaging |
Het |
Ndufa8 |
A |
C |
2: 35,939,312 (GRCm39) |
|
probably benign |
Het |
Nek11 |
A |
T |
9: 105,175,538 (GRCm39) |
M302K |
probably benign |
Het |
Nek6 |
A |
G |
2: 38,404,797 (GRCm39) |
|
probably null |
Het |
Numa1 |
C |
T |
7: 101,650,787 (GRCm39) |
A1506V |
probably damaging |
Het |
Plxdc1 |
A |
T |
11: 97,869,522 (GRCm39) |
|
probably null |
Het |
Poteg |
C |
A |
8: 27,938,048 (GRCm39) |
T6K |
probably benign |
Het |
Rbm26 |
A |
T |
14: 105,380,274 (GRCm39) |
N514K |
possibly damaging |
Het |
Rnf145 |
T |
C |
11: 44,450,942 (GRCm39) |
L422P |
probably damaging |
Het |
Scn5a |
G |
T |
9: 119,368,811 (GRCm39) |
T238K |
probably damaging |
Het |
Shd |
G |
A |
17: 56,283,315 (GRCm39) |
A315T |
probably damaging |
Het |
Sirpd |
A |
G |
3: 15,361,614 (GRCm39) |
*179R |
probably null |
Het |
Slco5a1 |
T |
G |
1: 12,951,525 (GRCm39) |
T593P |
possibly damaging |
Het |
Stard9 |
G |
A |
2: 120,545,140 (GRCm39) |
R4560H |
possibly damaging |
Het |
Trpm1 |
G |
C |
7: 63,897,155 (GRCm39) |
K252N |
probably damaging |
Het |
Ttc7b |
A |
T |
12: 100,339,803 (GRCm39) |
I584K |
possibly damaging |
Het |
Vmn1r218 |
T |
C |
13: 23,321,535 (GRCm39) |
V214A |
probably benign |
Het |
Wdfy3 |
G |
T |
5: 102,033,064 (GRCm39) |
H2215Q |
probably benign |
Het |
Wls |
G |
A |
3: 159,578,748 (GRCm39) |
M103I |
probably damaging |
Het |
Zmat4 |
T |
C |
8: 24,238,523 (GRCm39) |
|
probably null |
Het |
Zmynd15 |
G |
T |
11: 70,353,387 (GRCm39) |
C334F |
probably damaging |
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 |
|
R1165:Traf3ip3
|
UTSW |
1 |
192,866,786 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
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 |
PCR Primer
(F):5'- TTACCTTCCAGGAGCTGTCAG -3'
(R):5'- CAGATGGTCCTGAGTGTAGATG -3'
Sequencing Primer
(F):5'- GAGGTCCTGGAGAATCACCATTTTC -3'
(R):5'- CCTGAGTGTAGATGTGGGGCC -3'
|
Posted On |
2021-02-26 |