Incidental Mutation 'R1065:Traf3ip1'
ID |
85949 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Traf3ip1
|
Ensembl Gene |
ENSMUSG00000034292 |
Gene Name |
TRAF3 interacting protein 1 |
Synonyms |
MIP-T3, 3930402D05Rik |
MMRRC Submission |
039151-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1065 (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 91428506 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 122
(D122E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140151
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047242]
[ENSMUST00000189341]
|
AlphaFold |
Q149C2 |
Predicted Effect |
unknown
Transcript: ENSMUST00000047242
AA Change: D122E
|
SMART Domains |
Protein: ENSMUSP00000042391 Gene: ENSMUSG00000034292 AA Change: D122E
Domain | Start | End | E-Value | Type |
Pfam:MIP-T3
|
49 |
619 |
7e-207 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000189341
AA Change: D122E
|
SMART Domains |
Protein: ENSMUSP00000140151 Gene: ENSMUSG00000034292 AA Change: D122E
Domain | Start | End | E-Value | Type |
Pfam:MIP-T3
|
49 |
648 |
7.1e-203 |
PFAM |
|
Meta Mutation Damage Score |
0.0869 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.5%
|
Validation Efficiency |
97% (36/37) |
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cd300ld2 |
T |
C |
11: 114,904,586 (GRCm39) |
T94A |
probably damaging |
Het |
Cdc42bpg |
G |
A |
19: 6,372,856 (GRCm39) |
S1515N |
probably damaging |
Het |
Ckb |
T |
C |
12: 111,637,681 (GRCm39) |
E150G |
probably benign |
Het |
Clec2m |
A |
G |
6: 129,300,013 (GRCm39) |
I155T |
possibly damaging |
Het |
Cobl |
T |
A |
11: 12,204,327 (GRCm39) |
M785L |
possibly damaging |
Het |
Col6a5 |
T |
C |
9: 105,758,982 (GRCm39) |
N2075D |
probably damaging |
Het |
Commd7 |
G |
C |
2: 153,461,447 (GRCm39) |
|
probably benign |
Het |
Corin |
G |
A |
5: 72,458,993 (GRCm39) |
R927* |
probably null |
Het |
Dync2i1 |
C |
T |
12: 116,219,696 (GRCm39) |
R82H |
probably damaging |
Het |
Ift122 |
A |
T |
6: 115,852,286 (GRCm39) |
|
probably null |
Het |
Il1b |
G |
A |
2: 129,209,927 (GRCm39) |
T83I |
probably benign |
Het |
Ints4 |
T |
C |
7: 97,157,099 (GRCm39) |
|
probably null |
Het |
Msh6 |
T |
G |
17: 88,295,891 (GRCm39) |
|
probably benign |
Het |
Mtmr3 |
T |
C |
11: 4,442,859 (GRCm39) |
K392E |
probably damaging |
Het |
Or5t9 |
A |
G |
2: 86,659,888 (GRCm39) |
H264R |
probably damaging |
Het |
Pde3a |
T |
C |
6: 141,422,458 (GRCm39) |
|
probably benign |
Het |
Pde6h |
A |
C |
6: 136,936,368 (GRCm39) |
K37T |
probably damaging |
Het |
Plat |
C |
A |
8: 23,266,879 (GRCm39) |
D290E |
probably damaging |
Het |
Polk |
A |
C |
13: 96,644,760 (GRCm39) |
L122R |
probably damaging |
Het |
Ppp1r3g |
T |
A |
13: 36,153,418 (GRCm39) |
D279E |
probably benign |
Het |
Ptpru |
T |
C |
4: 131,535,651 (GRCm39) |
E370G |
possibly damaging |
Het |
Ralgapa2 |
T |
C |
2: 146,292,478 (GRCm39) |
Y187C |
probably benign |
Het |
Rps6ka2 |
C |
T |
17: 7,549,157 (GRCm39) |
|
probably benign |
Het |
Slit3 |
T |
C |
11: 35,012,462 (GRCm39) |
S41P |
possibly damaging |
Het |
Smarca5 |
A |
T |
8: 81,431,343 (GRCm39) |
L958Q |
probably damaging |
Het |
Snx9 |
T |
C |
17: 5,952,636 (GRCm39) |
|
probably benign |
Het |
Stkld1 |
A |
T |
2: 26,830,050 (GRCm39) |
N72I |
probably damaging |
Het |
Strc |
C |
A |
2: 121,197,132 (GRCm39) |
D1532Y |
probably damaging |
Het |
Sucla2 |
C |
T |
14: 73,798,074 (GRCm39) |
|
probably benign |
Het |
Svil |
T |
G |
18: 5,063,777 (GRCm39) |
|
probably benign |
Het |
Vmn2r7 |
A |
T |
3: 64,614,559 (GRCm39) |
D509E |
possibly damaging |
Het |
Vps52 |
C |
A |
17: 34,180,213 (GRCm39) |
Q306K |
probably benign |
Het |
Zfp407 |
C |
T |
18: 84,577,898 (GRCm39) |
A1072T |
probably benign |
Het |
Zfp418 |
C |
A |
7: 7,184,561 (GRCm39) |
Q175K |
probably benign |
Het |
Zxdc |
T |
C |
6: 90,355,885 (GRCm39) |
S465P |
probably 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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GCCACACTAACATTTGGAGAGAGGG -3'
(R):5'- GTTACACAGACTTGCCGTGTCAGAG -3'
Sequencing Primer
(F):5'- CAGTGTCATTGGTGCTCAAAC -3'
(R):5'- TGTCAGAGACGTGCATCCTAC -3'
|
Posted On |
2013-11-18 |