Incidental Mutation 'R2360:Traf3ip1'
| ID |
247097 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Traf3ip1
|
| Ensembl Gene |
ENSMUSG00000034292 |
| Gene Name |
TRAF3 interacting protein 1 |
| Synonyms |
MIP-T3, 3930402D05Rik |
| MMRRC Submission |
040342-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2360 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
91422369-91457029 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 91427374 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 115
(C115S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140151
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047242]
[ENSMUST00000189341]
|
| AlphaFold |
Q149C2 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000047242
AA Change: C115S
|
| SMART Domains |
Protein: ENSMUSP00000042391
Gene: ENSMUSG00000034292
AA Change: C115S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MIP-T3
|
49 |
619 |
7e-207 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000189341
AA Change: C115S
|
| SMART Domains |
Protein: ENSMUSP00000140151
Gene: ENSMUSG00000034292
AA Change: C115S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MIP-T3
|
49 |
648 |
7.1e-203 |
PFAM |
|
| Meta Mutation Damage Score |
0.8151 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
93% (37/40) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432E11Rik |
A |
T |
7: 29,274,214 (GRCm39) |
|
noncoding transcript |
Het |
| Abca14 |
A |
G |
7: 119,850,431 (GRCm39) |
E761G |
probably benign |
Het |
| Apc |
C |
T |
18: 34,394,179 (GRCm39) |
T35I |
probably damaging |
Het |
| Arhgef2 |
T |
A |
3: 88,541,723 (GRCm39) |
I228N |
probably damaging |
Het |
| Atp6v1g2 |
A |
G |
17: 35,456,638 (GRCm39) |
E74G |
probably damaging |
Het |
| Ccdc70 |
A |
G |
8: 22,463,447 (GRCm39) |
E79G |
probably damaging |
Het |
| Cdc42ep4 |
A |
G |
11: 113,619,528 (GRCm39) |
S288P |
probably damaging |
Het |
| Cip2a |
C |
T |
16: 48,837,828 (GRCm39) |
Q843* |
probably null |
Het |
| Cpn2 |
T |
C |
16: 30,078,321 (GRCm39) |
D460G |
probably benign |
Het |
| Crtam |
A |
G |
9: 40,884,811 (GRCm39) |
*393Q |
probably null |
Het |
| Cwc22 |
A |
G |
2: 77,757,591 (GRCm39) |
I179T |
probably damaging |
Het |
| Cyp3a41b |
T |
C |
5: 145,507,221 (GRCm39) |
M240V |
probably benign |
Het |
| Dnah8 |
A |
T |
17: 30,896,178 (GRCm39) |
D864V |
probably benign |
Het |
| Map3k7 |
T |
C |
4: 31,964,302 (GRCm39) |
S14P |
unknown |
Het |
| Med25 |
A |
G |
7: 44,534,566 (GRCm39) |
S150P |
probably damaging |
Het |
| Mex3b |
T |
C |
7: 82,517,070 (GRCm39) |
V71A |
probably benign |
Het |
| Morc3 |
T |
C |
16: 93,638,275 (GRCm39) |
L19S |
probably damaging |
Het |
| Morn1 |
T |
A |
4: 155,176,770 (GRCm39) |
S98T |
probably damaging |
Het |
| Mthfd1l |
G |
T |
10: 4,006,771 (GRCm39) |
A678S |
probably damaging |
Het |
| Napa |
A |
G |
7: 15,848,083 (GRCm39) |
Y200C |
probably damaging |
Het |
| Nr5a2 |
T |
C |
1: 136,876,565 (GRCm39) |
I33V |
probably benign |
Het |
| Or14j6 |
A |
G |
17: 38,215,345 (GRCm39) |
K303E |
possibly damaging |
Het |
| Pcnx1 |
A |
G |
12: 81,996,960 (GRCm39) |
D952G |
probably damaging |
Het |
| Phf20l1 |
G |
A |
15: 66,466,769 (GRCm39) |
R66Q |
probably damaging |
Het |
| Resf1 |
A |
G |
6: 149,236,145 (GRCm39) |
I1488M |
probably benign |
Het |
| Rfk |
A |
G |
19: 17,375,960 (GRCm39) |
T85A |
probably benign |
Het |
| Sbno2 |
T |
C |
10: 79,893,855 (GRCm39) |
D1179G |
possibly damaging |
Het |
| Serpina3k |
C |
T |
12: 104,307,166 (GRCm39) |
Q133* |
probably null |
Het |
| Setd4 |
T |
C |
16: 93,383,122 (GRCm39) |
|
probably benign |
Het |
| Sh2d4b |
C |
T |
14: 40,582,548 (GRCm39) |
|
probably null |
Het |
| Slc1a6 |
G |
A |
10: 78,648,718 (GRCm39) |
V480I |
possibly damaging |
Het |
| Slc39a3 |
A |
T |
10: 80,867,104 (GRCm39) |
V214E |
possibly damaging |
Het |
| Tll1 |
A |
G |
8: 64,504,435 (GRCm39) |
Y654H |
probably damaging |
Het |
| Vmn1r209 |
T |
A |
13: 22,989,836 (GRCm39) |
I285F |
probably damaging |
Het |
| Vmn2r87 |
G |
T |
10: 130,315,631 (GRCm39) |
T145K |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,394,388 (GRCm39) |
T4484A |
unknown |
Het |
| Zfp768 |
T |
C |
7: 126,943,810 (GRCm39) |
E106G |
probably benign |
Het |
| Zfp984 |
A |
G |
4: 147,839,234 (GRCm39) |
I539T |
possibly damaging |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACGTACACTGTCTCCCTCTGAG -3'
(R):5'- ATCAAAAGCAGCTCCTGGC -3'
Sequencing Primer
(F):5'- GGAGTTCCAGATGCTTATGAATCCC -3'
(R):5'- GCTCCCGCATCCCTCACAG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation