Incidental Mutation 'R3031:Traf3ip1'
| ID |
264714 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Traf3ip1
|
| Ensembl Gene |
ENSMUSG00000034292 |
| Gene Name |
TRAF3 interacting protein 1 |
| Synonyms |
MIP-T3, 3930402D05Rik |
| MMRRC Submission |
040547-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3031 (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 C
at 91447822 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 433
(V433A)
|
| 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: V404A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000042391
Gene: ENSMUSG00000034292
AA Change: V404A
| 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: V433A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000140151
Gene: ENSMUSG00000034292
AA Change: V433A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MIP-T3
|
49 |
648 |
7.1e-203 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
C |
A |
16: 20,193,863 (GRCm39) |
V753L |
probably damaging |
Het |
| Ap3b1 |
T |
C |
13: 94,702,151 (GRCm39) |
L1068P |
unknown |
Het |
| Cacna1h |
C |
A |
17: 25,652,108 (GRCm39) |
R12L |
probably damaging |
Het |
| Cbln4 |
A |
G |
2: 171,884,100 (GRCm39) |
V40A |
probably damaging |
Het |
| Ccdc170 |
T |
C |
10: 4,468,931 (GRCm39) |
S160P |
probably damaging |
Het |
| Cdc37 |
T |
C |
9: 21,054,487 (GRCm39) |
E46G |
possibly damaging |
Het |
| Cltc |
T |
C |
11: 86,621,158 (GRCm39) |
H287R |
probably damaging |
Het |
| Dsg1a |
A |
T |
18: 20,473,549 (GRCm39) |
D874V |
probably damaging |
Het |
| Gjd4 |
G |
T |
18: 9,280,811 (GRCm39) |
S89* |
probably null |
Het |
| Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
| Hydin |
A |
G |
8: 111,329,848 (GRCm39) |
R4861G |
possibly damaging |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Lipe |
T |
C |
7: 25,084,320 (GRCm39) |
E588G |
possibly damaging |
Het |
| Mael |
T |
C |
1: 166,032,375 (GRCm39) |
D328G |
probably damaging |
Het |
| Mboat7 |
A |
G |
7: 3,681,687 (GRCm39) |
V398A |
probably benign |
Het |
| Slc35e1 |
A |
G |
8: 73,238,735 (GRCm39) |
W258R |
probably benign |
Het |
| Slc9a8 |
A |
G |
2: 167,293,201 (GRCm39) |
D183G |
probably damaging |
Het |
| Sorcs1 |
G |
A |
19: 50,213,613 (GRCm39) |
R705C |
probably damaging |
Het |
| Sult3a1 |
G |
A |
10: 33,753,345 (GRCm39) |
D214N |
possibly damaging |
Het |
| Ubxn7 |
T |
A |
16: 32,194,125 (GRCm39) |
D232E |
probably benign |
Het |
| Upf1 |
C |
T |
8: 70,791,110 (GRCm39) |
R544H |
probably damaging |
Het |
| Vps13c |
T |
C |
9: 67,831,052 (GRCm39) |
S1561P |
probably benign |
Het |
| Wdr48 |
T |
C |
9: 119,753,176 (GRCm39) |
V593A |
probably benign |
Het |
| Zfp58 |
A |
G |
13: 67,640,231 (GRCm39) |
F87L |
probably benign |
Het |
| Zfp663 |
A |
T |
2: 165,195,616 (GRCm39) |
L201* |
probably null |
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 |
|
|
R2367:Traf3ip1
|
UTSW |
1 |
91,435,242 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
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'- AGTCTGAGTGTCATGCCGAC -3'
(R):5'- ATCTGGAATGCTTGCTGCTC -3'
Sequencing Primer
(F):5'- CCGTGGCATGGGAGTGAAC -3'
(R):5'- GGTTTAAGGCAGTGATCTAATCCTC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation