Incidental Mutation 'IGL01308:Traf3ip3'
| ID |
73524 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Traf3ip3
|
| Ensembl Gene |
ENSMUSG00000037318 |
| Gene Name |
TRAF3 interacting protein 3 |
| Synonyms |
6030423D04Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01308
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
192857812-192883854 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 192867199 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 274
(E274G)
|
| 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: E274G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000040977
Gene: ENSMUSG00000037318
AA Change: E274G
| 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 |
probably benign
Transcript: ENSMUST00000160302
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160332
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161403
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162454
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000162480
AA Change: E43G
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000192020
AA Change: E274G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141698
Gene: ENSMUSG00000037318
AA Change: E274G
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
A |
G |
7: 78,748,997 (GRCm39) |
D1256G |
probably damaging |
Het |
| Acot7 |
A |
T |
4: 152,345,353 (GRCm39) |
M308L |
probably benign |
Het |
| Adarb2 |
A |
G |
13: 8,253,329 (GRCm39) |
R25G |
possibly damaging |
Het |
| Ano1 |
C |
A |
7: 144,149,235 (GRCm39) |
Q875H |
probably damaging |
Het |
| Ano6 |
G |
A |
15: 95,811,542 (GRCm39) |
|
probably null |
Het |
| Defa40 |
C |
T |
8: 21,740,434 (GRCm39) |
T80I |
probably damaging |
Het |
| Efcab3 |
A |
T |
11: 104,611,523 (GRCm39) |
D455V |
probably benign |
Het |
| Ehbp1 |
G |
A |
11: 22,088,022 (GRCm39) |
P354L |
probably damaging |
Het |
| Eml5 |
T |
C |
12: 98,768,572 (GRCm39) |
H1454R |
probably damaging |
Het |
| Esyt1 |
T |
A |
10: 128,355,660 (GRCm39) |
N421Y |
possibly damaging |
Het |
| Gen1 |
T |
C |
12: 11,306,871 (GRCm39) |
T100A |
probably damaging |
Het |
| Jak3 |
A |
T |
8: 72,137,810 (GRCm39) |
D780V |
probably damaging |
Het |
| Klrb1a |
A |
G |
6: 128,595,008 (GRCm39) |
|
probably benign |
Het |
| Lrp8 |
A |
G |
4: 107,721,273 (GRCm39) |
I826M |
probably benign |
Het |
| Mcmbp |
G |
A |
7: 128,316,209 (GRCm39) |
Q214* |
probably null |
Het |
| Mtmr7 |
A |
T |
8: 41,050,388 (GRCm39) |
Y136N |
probably damaging |
Het |
| Ndor1 |
A |
G |
2: 25,140,151 (GRCm39) |
Y88H |
probably benign |
Het |
| Nkx2-4 |
A |
G |
2: 146,926,260 (GRCm39) |
Y201H |
possibly damaging |
Het |
| Or3a1d |
A |
G |
11: 74,237,486 (GRCm39) |
L308P |
probably damaging |
Het |
| Or52n4b |
T |
A |
7: 108,143,933 (GRCm39) |
L65* |
probably null |
Het |
| Or6c5 |
A |
T |
10: 129,074,476 (GRCm39) |
T153S |
probably benign |
Het |
| Pigg |
T |
C |
5: 108,484,343 (GRCm39) |
L663P |
probably damaging |
Het |
| Pik3cd |
A |
G |
4: 149,741,917 (GRCm39) |
V343A |
probably damaging |
Het |
| Plekha4 |
A |
G |
7: 45,187,659 (GRCm39) |
S244G |
probably damaging |
Het |
| Prkce |
T |
A |
17: 86,932,890 (GRCm39) |
D623E |
probably damaging |
Het |
| Rasgrf2 |
A |
G |
13: 92,159,425 (GRCm39) |
|
probably benign |
Het |
| Rexo5 |
T |
C |
7: 119,433,499 (GRCm39) |
W419R |
probably damaging |
Het |
| Rnaseh2b |
A |
G |
14: 62,602,706 (GRCm39) |
|
probably null |
Het |
| Rras |
A |
G |
7: 44,670,709 (GRCm39) |
Y193C |
possibly damaging |
Het |
| Sall4 |
T |
C |
2: 168,592,164 (GRCm39) |
I997V |
probably damaging |
Het |
| Sec31b |
A |
G |
19: 44,512,122 (GRCm39) |
F591L |
probably benign |
Het |
| Skic2 |
A |
G |
17: 35,059,610 (GRCm39) |
L232P |
probably benign |
Het |
| Slc13a3 |
A |
T |
2: 165,248,700 (GRCm39) |
I526N |
probably damaging |
Het |
| Slc6a11 |
C |
T |
6: 114,111,626 (GRCm39) |
T103M |
probably damaging |
Het |
| Snrnp25 |
A |
G |
11: 32,158,745 (GRCm39) |
|
probably benign |
Het |
| Tex264 |
T |
C |
9: 106,539,607 (GRCm39) |
K201E |
possibly damaging |
Het |
| Tgfb1 |
G |
T |
7: 25,387,442 (GRCm39) |
R50L |
probably damaging |
Het |
| Tle4 |
A |
G |
19: 14,445,625 (GRCm39) |
V207A |
probably benign |
Het |
| Tmed1 |
A |
T |
9: 21,421,338 (GRCm39) |
C45* |
probably null |
Het |
| Tmem260 |
A |
G |
14: 48,749,415 (GRCm39) |
N638S |
probably damaging |
Het |
| Trak1 |
T |
C |
9: 121,272,802 (GRCm39) |
|
probably null |
Het |
| Trim3 |
A |
T |
7: 105,266,676 (GRCm39) |
V502E |
probably damaging |
Het |
| Trmo |
C |
T |
4: 46,377,053 (GRCm39) |
|
probably benign |
Het |
| Xab2 |
C |
T |
8: 3,666,332 (GRCm39) |
R192Q |
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 |
|
|
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 |
|
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 |
|
|
| Posted On |
2013-10-07 |
Incidental Mutation