Incidental Mutation 'IGL01997:Traf3ip1'
| ID |
182127 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Traf3ip1
|
| Ensembl Gene |
ENSMUSG00000034292 |
| Gene Name |
TRAF3 interacting protein 1 |
| Synonyms |
MIP-T3, 3930402D05Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01997
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
91422369-91457029 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 91435292 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140151
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047242]
[ENSMUST00000189341]
|
| AlphaFold |
Q149C2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000047242
|
| SMART Domains |
Protein: ENSMUSP00000042391
Gene: ENSMUSG00000034292
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MIP-T3
|
49 |
619 |
7e-207 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000189341
|
| SMART Domains |
Protein: ENSMUSP00000140151
Gene: ENSMUSG00000034292
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MIP-T3
|
49 |
648 |
7.1e-203 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a gene trap allele exhibit embryonic lethality, cardiac edema, abnormal neural development, polydactyly, and microphthalmia associated with a lack of embryonic lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahctf1 |
G |
A |
1: 179,583,027 (GRCm39) |
T83I |
probably damaging |
Het |
| Aoah |
A |
T |
13: 21,184,108 (GRCm39) |
M391L |
probably benign |
Het |
| Apc |
A |
G |
18: 34,448,476 (GRCm39) |
T1757A |
probably benign |
Het |
| B4galt5 |
A |
G |
2: 167,143,261 (GRCm39) |
Y388H |
probably benign |
Het |
| Cyp3a25 |
A |
T |
5: 145,931,766 (GRCm39) |
M114K |
possibly damaging |
Het |
| Dcbld1 |
A |
G |
10: 52,193,206 (GRCm39) |
E246G |
probably damaging |
Het |
| Fstl4 |
T |
A |
11: 53,053,881 (GRCm39) |
Y404* |
probably null |
Het |
| Gnat3 |
G |
T |
5: 18,204,721 (GRCm39) |
E125* |
probably null |
Het |
| Hspa5 |
C |
T |
2: 34,662,327 (GRCm39) |
|
probably benign |
Het |
| Krt72 |
A |
G |
15: 101,693,315 (GRCm39) |
S200P |
probably damaging |
Het |
| Mab21l3 |
G |
A |
3: 101,725,955 (GRCm39) |
T347I |
probably damaging |
Het |
| Map2k7 |
A |
G |
8: 4,293,442 (GRCm39) |
E104G |
probably benign |
Het |
| Map3k9 |
T |
C |
12: 81,819,471 (GRCm39) |
D261G |
probably damaging |
Het |
| Mepe |
C |
T |
5: 104,485,466 (GRCm39) |
P202L |
probably damaging |
Het |
| Mill1 |
G |
A |
7: 17,989,814 (GRCm39) |
G32D |
probably damaging |
Het |
| Mmp20 |
T |
G |
9: 7,639,261 (GRCm39) |
M143R |
probably benign |
Het |
| Mms19 |
A |
T |
19: 41,944,970 (GRCm39) |
L302H |
probably damaging |
Het |
| Myh13 |
T |
A |
11: 67,257,992 (GRCm39) |
I1728K |
probably benign |
Het |
| Nsun2 |
C |
T |
13: 69,771,365 (GRCm39) |
P290L |
probably damaging |
Het |
| Nwd2 |
A |
T |
5: 63,961,938 (GRCm39) |
R507S |
probably damaging |
Het |
| Os9 |
T |
A |
10: 126,955,312 (GRCm39) |
H147L |
probably benign |
Het |
| Piezo1 |
T |
C |
8: 123,215,070 (GRCm39) |
|
probably benign |
Het |
| Plekhf1 |
A |
T |
7: 37,920,752 (GRCm39) |
V272D |
probably damaging |
Het |
| Pnisr |
T |
C |
4: 21,871,537 (GRCm39) |
I419T |
possibly damaging |
Het |
| Ppp1r3d |
G |
T |
2: 178,055,447 (GRCm39) |
T185K |
possibly damaging |
Het |
| Ppp2r2a |
C |
T |
14: 67,253,968 (GRCm39) |
S400N |
probably benign |
Het |
| Rpl21 |
T |
C |
5: 146,772,418 (GRCm39) |
I96T |
probably benign |
Het |
| S1pr3 |
C |
T |
13: 51,573,751 (GRCm39) |
R311W |
probably damaging |
Het |
| Senp5 |
T |
C |
16: 31,782,288 (GRCm39) |
K736R |
probably damaging |
Het |
| Slfn9 |
T |
C |
11: 82,878,503 (GRCm39) |
I209V |
possibly damaging |
Het |
| Tyk2 |
A |
G |
9: 21,021,790 (GRCm39) |
F879L |
probably damaging |
Het |
| Vmn2r53 |
T |
C |
7: 12,316,373 (GRCm39) |
D482G |
possibly damaging |
Het |
| Vmn2r65 |
A |
G |
7: 84,589,978 (GRCm39) |
F646S |
probably damaging |
Het |
| Vps13b |
T |
A |
15: 35,709,370 (GRCm39) |
S1772R |
probably damaging |
Het |
| Vwde |
C |
T |
6: 13,215,705 (GRCm39) |
C117Y |
probably damaging |
Het |
| Zfyve26 |
T |
C |
12: 79,291,174 (GRCm39) |
I2144V |
probably benign |
Het |
|
| Other mutations in Traf3ip1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01355:Traf3ip1
|
APN |
1 |
91,446,019 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02431:Traf3ip1
|
APN |
1 |
91,427,357 (GRCm39) |
missense |
unknown |
|
|
IGL03106:Traf3ip1
|
APN |
1 |
91,450,609 (GRCm39) |
missense |
probably benign |
0.26 |
|
eclectic
|
UTSW |
1 |
91,435,458 (GRCm39) |
splice site |
probably null |
|
|
R0538:Traf3ip1
|
UTSW |
1 |
91,427,341 (GRCm39) |
missense |
unknown |
|
|
R1034:Traf3ip1
|
UTSW |
1 |
91,446,041 (GRCm39) |
splice site |
probably null |
|
|
R1065:Traf3ip1
|
UTSW |
1 |
91,428,506 (GRCm39) |
missense |
unknown |
|
|
R1757:Traf3ip1
|
UTSW |
1 |
91,450,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2360:Traf3ip1
|
UTSW |
1 |
91,427,374 (GRCm39) |
missense |
unknown |
|
|
R2367:Traf3ip1
|
UTSW |
1 |
91,435,242 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R3031:Traf3ip1
|
UTSW |
1 |
91,447,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3752:Traf3ip1
|
UTSW |
1 |
91,446,019 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3752:Traf3ip1
|
UTSW |
1 |
91,428,639 (GRCm39) |
splice site |
probably benign |
|
|
R4690:Traf3ip1
|
UTSW |
1 |
91,447,834 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4747:Traf3ip1
|
UTSW |
1 |
91,455,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5328:Traf3ip1
|
UTSW |
1 |
91,447,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5540:Traf3ip1
|
UTSW |
1 |
91,429,037 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5910:Traf3ip1
|
UTSW |
1 |
91,455,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6593:Traf3ip1
|
UTSW |
1 |
91,455,417 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6836:Traf3ip1
|
UTSW |
1 |
91,448,722 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7249:Traf3ip1
|
UTSW |
1 |
91,455,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7418:Traf3ip1
|
UTSW |
1 |
91,435,458 (GRCm39) |
splice site |
probably null |
|
|
R7436:Traf3ip1
|
UTSW |
1 |
91,439,110 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7597:Traf3ip1
|
UTSW |
1 |
91,439,167 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7751:Traf3ip1
|
UTSW |
1 |
91,422,479 (GRCm39) |
start gained |
probably benign |
|
|
R8031:Traf3ip1
|
UTSW |
1 |
91,429,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8179:Traf3ip1
|
UTSW |
1 |
91,428,523 (GRCm39) |
missense |
unknown |
|
|
R8919:Traf3ip1
|
UTSW |
1 |
91,443,796 (GRCm39) |
intron |
probably benign |
|
|
R9002:Traf3ip1
|
UTSW |
1 |
91,433,178 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9040:Traf3ip1
|
UTSW |
1 |
91,429,092 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9055:Traf3ip1
|
UTSW |
1 |
91,428,733 (GRCm39) |
nonsense |
probably null |
|
|
R9745:Traf3ip1
|
UTSW |
1 |
91,439,095 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation