Incidental Mutation 'IGL01355:Traf3ip1'
| ID |
75493 |
| 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 # |
IGL01355
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
91422369-91457029 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 91446019 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 384
(D384G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140151
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047242]
[ENSMUST00000189341]
|
| AlphaFold |
Q149C2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047242
AA Change: D355G
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000042391
Gene: ENSMUSG00000034292
AA Change: D355G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MIP-T3
|
49 |
619 |
7e-207 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187588
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000189341
AA Change: D384G
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000140151
Gene: ENSMUSG00000034292
AA Change: D384G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MIP-T3
|
49 |
648 |
7.1e-203 |
PFAM |
|
| Meta Mutation Damage Score |
0.2673 |
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ajap1 |
C |
T |
4: 153,470,938 (GRCm39) |
V290I |
probably damaging |
Het |
| Ankrd12 |
A |
G |
17: 66,277,335 (GRCm39) |
|
probably benign |
Het |
| Anxa4 |
A |
T |
6: 86,729,187 (GRCm39) |
I140N |
probably damaging |
Het |
| Asap2 |
A |
G |
12: 21,268,087 (GRCm39) |
|
probably benign |
Het |
| Cd36 |
C |
T |
5: 18,018,072 (GRCm39) |
V214I |
possibly damaging |
Het |
| Col24a1 |
T |
C |
3: 145,020,637 (GRCm39) |
L336S |
probably benign |
Het |
| Dcc |
C |
T |
18: 71,942,185 (GRCm39) |
V311I |
probably benign |
Het |
| Gpr146 |
A |
T |
5: 139,364,659 (GRCm39) |
|
probably benign |
Het |
| Irf1 |
T |
C |
11: 53,665,187 (GRCm39) |
V188A |
probably benign |
Het |
| Limk1 |
G |
A |
5: 134,686,754 (GRCm39) |
|
probably benign |
Het |
| Mcidas |
T |
C |
13: 113,135,603 (GRCm39) |
F342S |
probably damaging |
Het |
| Mctp1 |
A |
G |
13: 76,533,074 (GRCm39) |
T141A |
probably benign |
Het |
| Mnd1 |
C |
A |
3: 84,023,784 (GRCm39) |
A101S |
probably benign |
Het |
| Nsun7 |
T |
C |
5: 66,452,211 (GRCm39) |
S466P |
probably damaging |
Het |
| Or2m13 |
C |
T |
16: 19,226,333 (GRCm39) |
M145I |
probably benign |
Het |
| Or4g16 |
T |
A |
2: 111,137,438 (GRCm39) |
I296K |
probably benign |
Het |
| Or52z12 |
A |
G |
7: 103,233,580 (GRCm39) |
E117G |
probably damaging |
Het |
| Pik3c2g |
G |
T |
6: 139,798,583 (GRCm39) |
G371V |
probably damaging |
Het |
| Sdad1 |
A |
G |
5: 92,450,538 (GRCm39) |
V199A |
probably damaging |
Het |
| Spg11 |
C |
T |
2: 121,943,637 (GRCm39) |
V172I |
probably benign |
Het |
| Tas2r108 |
A |
G |
6: 40,470,685 (GRCm39) |
T54A |
possibly damaging |
Het |
| Tmem121b |
A |
G |
6: 120,469,427 (GRCm39) |
L430P |
probably damaging |
Het |
| Trank1 |
A |
G |
9: 111,194,588 (GRCm39) |
T871A |
possibly damaging |
Het |
| Vegfa |
T |
C |
17: 46,336,347 (GRCm39) |
M258V |
possibly damaging |
Het |
| Zbtb49 |
A |
G |
5: 38,367,960 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Traf3ip1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01997:Traf3ip1
|
APN |
1 |
91,435,292 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
2013-10-07 |
Incidental Mutation