Incidental Mutation 'R2367:Traf3ip1'
| ID |
246360 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Traf3ip1
|
| Ensembl Gene |
ENSMUSG00000034292 |
| Gene Name |
TRAF3 interacting protein 1 |
| Synonyms |
MIP-T3, 3930402D05Rik |
| MMRRC Submission |
040348-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2367 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
91422369-91457029 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 91435242 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 314
(S314A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140151
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047242]
[ENSMUST00000189341]
|
| AlphaFold |
Q149C2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047242
AA Change: S338A
PolyPhen 2
Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000042391
Gene: ENSMUSG00000034292
AA Change: S338A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MIP-T3
|
49 |
619 |
7e-207 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000189341
AA Change: S314A
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000140151
Gene: ENSMUSG00000034292
AA Change: S314A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MIP-T3
|
49 |
648 |
7.1e-203 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.2%
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adipoq |
T |
C |
16: 22,974,069 (GRCm39) |
V32A |
probably benign |
Het |
| Ceacam3 |
T |
C |
7: 16,885,813 (GRCm39) |
|
probably null |
Het |
| Cep250 |
G |
A |
2: 155,834,552 (GRCm39) |
R2159K |
probably damaging |
Het |
| Cfap46 |
C |
A |
7: 139,233,414 (GRCm39) |
V296F |
probably damaging |
Het |
| Ctdspl2 |
T |
C |
2: 121,817,499 (GRCm39) |
V182A |
probably benign |
Het |
| Cyp2c69 |
T |
C |
19: 39,866,038 (GRCm39) |
N185S |
probably benign |
Het |
| Daxx |
C |
T |
17: 34,130,821 (GRCm39) |
R279W |
probably benign |
Het |
| Dnajc28 |
G |
A |
16: 91,413,755 (GRCm39) |
T187M |
probably damaging |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Galnt13 |
A |
T |
2: 55,002,956 (GRCm39) |
M552L |
probably benign |
Het |
| Gstt2 |
C |
T |
10: 75,668,524 (GRCm39) |
G108S |
probably benign |
Het |
| Heatr1 |
T |
A |
13: 12,448,605 (GRCm39) |
L422Q |
probably damaging |
Het |
| Kntc1 |
C |
T |
5: 123,919,255 (GRCm39) |
L845F |
probably damaging |
Het |
| Krtap26-1 |
C |
A |
16: 88,444,213 (GRCm39) |
R136L |
probably benign |
Het |
| Mrgprb5 |
C |
T |
7: 47,818,347 (GRCm39) |
W129* |
probably null |
Het |
| Ms4a3 |
G |
A |
19: 11,607,108 (GRCm39) |
P186S |
probably benign |
Het |
| Myo15a |
T |
A |
11: 60,408,064 (GRCm39) |
M3184K |
probably damaging |
Het |
| Olig2 |
G |
A |
16: 91,023,454 (GRCm39) |
R56Q |
possibly damaging |
Het |
| Or8u9 |
T |
C |
2: 86,001,981 (GRCm39) |
Y60C |
probably damaging |
Het |
| Pgap3 |
C |
T |
11: 98,281,985 (GRCm39) |
|
probably null |
Het |
| Phgdh |
C |
G |
3: 98,221,612 (GRCm39) |
G440A |
probably benign |
Het |
| Scn1a |
T |
C |
2: 66,158,023 (GRCm39) |
Q450R |
probably damaging |
Het |
| Sema4d |
CGGGG |
CGGGGGGG |
13: 51,857,176 (GRCm39) |
|
probably benign |
Het |
| Sik1 |
C |
T |
17: 32,065,271 (GRCm39) |
V776I |
possibly damaging |
Het |
| Slc25a39 |
T |
A |
11: 102,294,477 (GRCm39) |
T316S |
possibly damaging |
Het |
| Slc38a10 |
C |
T |
11: 120,001,087 (GRCm39) |
E578K |
probably benign |
Het |
| Slc44a5 |
T |
A |
3: 153,953,446 (GRCm39) |
I276K |
possibly damaging |
Het |
| Smarcc2 |
A |
G |
10: 128,318,036 (GRCm39) |
T610A |
possibly damaging |
Het |
| Spag9 |
G |
A |
11: 94,007,583 (GRCm39) |
S1090N |
probably damaging |
Het |
| Tpr |
T |
C |
1: 150,309,479 (GRCm39) |
V277A |
probably damaging |
Het |
| Tril |
T |
A |
6: 53,796,151 (GRCm39) |
D357V |
probably damaging |
Het |
| Tube1 |
T |
C |
10: 39,020,915 (GRCm39) |
L267P |
probably damaging |
Het |
| Vmn1r11 |
A |
G |
6: 57,114,416 (GRCm39) |
I27V |
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 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGACAGATCTCACTGCAGG -3'
(R):5'- AGAGCTGACTCCTCCCCAAATG -3'
Sequencing Primer
(F):5'- TCTCACTGCAGGGCAAAG -3'
(R):5'- CAAATGCGGCAGGGCTGTG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation