Incidental Mutation 'IGL03179:Traf3ip3'
| ID |
412145 |
| 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 # |
IGL03179
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
192857812-192883854 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 192876676 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 209
(E209G)
|
| 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 damaging
Transcript: ENSMUST00000043550
AA Change: E209G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000040977
Gene: ENSMUSG00000037318
AA Change: E209G
| 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 |
noncoding transcript
Transcript: ENSMUST00000159805
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160332
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161145
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161151
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000161403
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000192020
AA Change: E209G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141698
Gene: ENSMUSG00000037318
AA Change: E209G
| 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 |
noncoding transcript
Transcript: ENSMUST00000162454
|
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162480
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap11 |
T |
A |
14: 78,745,180 (GRCm39) |
H1736L |
probably benign |
Het |
| App |
A |
G |
16: 84,879,735 (GRCm39) |
C133R |
probably damaging |
Het |
| Atxn7l2 |
G |
T |
3: 108,110,963 (GRCm39) |
C524* |
probably null |
Het |
| Cckbr |
T |
C |
7: 105,084,130 (GRCm39) |
V288A |
probably benign |
Het |
| Ccr1l1 |
T |
C |
9: 123,777,787 (GRCm39) |
Y220C |
probably damaging |
Het |
| Cdc42se2 |
A |
T |
11: 54,614,417 (GRCm39) |
F47I |
possibly damaging |
Het |
| Cep290 |
T |
A |
10: 100,403,950 (GRCm39) |
I2317N |
possibly damaging |
Het |
| Chrnd |
T |
C |
1: 87,123,502 (GRCm39) |
S347P |
probably damaging |
Het |
| Clcn5 |
T |
A |
X: 7,029,565 (GRCm39) |
|
probably null |
Het |
| D6Wsu163e |
A |
G |
6: 126,927,074 (GRCm39) |
D187G |
probably damaging |
Het |
| Dnajc13 |
T |
A |
9: 104,044,634 (GRCm39) |
I1852F |
probably benign |
Het |
| Ecpas |
C |
T |
4: 58,832,777 (GRCm39) |
G861D |
probably damaging |
Het |
| Fcnb |
A |
G |
2: 27,966,646 (GRCm39) |
S296P |
possibly damaging |
Het |
| Fut2 |
C |
T |
7: 45,300,073 (GRCm39) |
R233K |
probably benign |
Het |
| Gm21985 |
G |
A |
2: 112,188,900 (GRCm39) |
V1078I |
possibly damaging |
Het |
| Gpc3 |
A |
T |
X: 51,486,090 (GRCm39) |
|
probably benign |
Het |
| Krt10 |
A |
G |
11: 99,280,044 (GRCm39) |
|
probably benign |
Het |
| Lrrk2 |
A |
G |
15: 91,584,781 (GRCm39) |
E370G |
probably damaging |
Het |
| Myo5c |
A |
T |
9: 75,163,148 (GRCm39) |
I326F |
possibly damaging |
Het |
| Neb |
A |
T |
2: 52,066,653 (GRCm39) |
L5906Q |
probably damaging |
Het |
| Nrdc |
A |
T |
4: 108,903,888 (GRCm39) |
|
probably benign |
Het |
| Nrip2 |
A |
G |
6: 128,381,938 (GRCm39) |
N17S |
possibly damaging |
Het |
| Or51f2 |
T |
C |
7: 102,527,279 (GRCm39) |
|
probably benign |
Het |
| Or6s1 |
T |
C |
14: 51,308,467 (GRCm39) |
I128V |
probably benign |
Het |
| P2rx7 |
A |
G |
5: 122,811,763 (GRCm39) |
Y358C |
possibly damaging |
Het |
| Pex10 |
A |
C |
4: 155,152,354 (GRCm39) |
I61L |
probably benign |
Het |
| Phax |
T |
C |
18: 56,713,364 (GRCm39) |
F248L |
probably damaging |
Het |
| Phtf2 |
A |
T |
5: 20,987,397 (GRCm39) |
D366E |
probably damaging |
Het |
| Pnpo |
A |
G |
11: 96,830,085 (GRCm39) |
Y205H |
possibly damaging |
Het |
| Pparg |
T |
A |
6: 115,416,833 (GRCm39) |
W9R |
probably damaging |
Het |
| Ppp4r3c2 |
G |
A |
X: 88,796,434 (GRCm39) |
G89S |
possibly damaging |
Het |
| Prex1 |
C |
T |
2: 166,427,114 (GRCm39) |
S867N |
probably benign |
Het |
| Pyroxd2 |
T |
A |
19: 42,736,001 (GRCm39) |
N59I |
possibly damaging |
Het |
| Rnf135 |
T |
A |
11: 80,084,837 (GRCm39) |
S203R |
possibly damaging |
Het |
| Sall1 |
T |
A |
8: 89,758,289 (GRCm39) |
N605I |
probably benign |
Het |
| Scara3 |
C |
T |
14: 66,168,603 (GRCm39) |
R338H |
probably damaging |
Het |
| Slc25a14 |
T |
C |
X: 47,726,317 (GRCm39) |
S152P |
probably benign |
Het |
| Strip1 |
A |
T |
3: 107,527,571 (GRCm39) |
F436I |
probably damaging |
Het |
| Tgfa |
T |
C |
6: 86,248,403 (GRCm39) |
L135P |
probably benign |
Het |
| Tgif1 |
T |
C |
17: 71,151,942 (GRCm39) |
Q170R |
possibly damaging |
Het |
| Tmc2 |
G |
A |
2: 130,071,107 (GRCm39) |
E279K |
probably damaging |
Het |
| Tnks |
G |
T |
8: 35,315,824 (GRCm39) |
N987K |
probably benign |
Het |
| Vmn2r73 |
T |
A |
7: 85,519,468 (GRCm39) |
I497L |
probably benign |
Het |
| Wrn |
C |
A |
8: 33,800,734 (GRCm39) |
|
probably null |
Het |
| Zcchc24 |
T |
C |
14: 25,720,086 (GRCm39) |
I193V |
possibly 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 |
|
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 |
2016-08-02 |
Incidental Mutation