Incidental Mutation 'R5189:Trip10'
ID |
405075 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trip10
|
Ensembl Gene |
ENSMUSG00000019487 |
Gene Name |
thyroid hormone receptor interactor 10 |
Synonyms |
Cip4 |
MMRRC Submission |
042767-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.753)
|
Stock # |
R5189 (G1)
|
Quality Score |
117 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
57556455-57570665 bp(+) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
A to T
at 57568288 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153467
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019631]
[ENSMUST00000224152]
[ENSMUST00000224885]
[ENSMUST00000224947]
|
AlphaFold |
Q8CJ53 |
Predicted Effect |
probably null
Transcript: ENSMUST00000019631
|
SMART Domains |
Protein: ENSMUSP00000019631 Gene: ENSMUSG00000019487
Domain | Start | End | E-Value | Type |
FCH
|
1 |
94 |
9.95e-29 |
SMART |
coiled coil region
|
117 |
197 |
N/A |
INTRINSIC |
low complexity region
|
310 |
318 |
N/A |
INTRINSIC |
PDB:2KE4|A
|
332 |
425 |
3e-35 |
PDB |
low complexity region
|
433 |
455 |
N/A |
INTRINSIC |
low complexity region
|
458 |
467 |
N/A |
INTRINSIC |
SH3
|
489 |
546 |
2.44e-11 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000224152
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224261
|
Predicted Effect |
probably null
Transcript: ENSMUST00000224885
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224904
|
Predicted Effect |
probably null
Transcript: ENSMUST00000224947
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased insulin-stimulated glucose uptake in adipocytes and decreased circulating glucose levels. Mice homozygous for another knock-out allele exhibit impaired integrin-dependent T-cell trafficking. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
2700049A03Rik |
C |
T |
12: 71,240,123 (GRCm39) |
T1311I |
possibly damaging |
Het |
2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
4930505A04Rik |
T |
C |
11: 30,376,169 (GRCm39) |
T233A |
probably damaging |
Het |
Ankar |
T |
C |
1: 72,697,573 (GRCm39) |
I859V |
probably benign |
Het |
Cacnb2 |
G |
T |
2: 14,990,849 (GRCm39) |
A644S |
possibly damaging |
Het |
Gatb |
T |
C |
3: 85,544,238 (GRCm39) |
V402A |
probably benign |
Het |
Gpcpd1 |
T |
C |
2: 132,395,892 (GRCm39) |
K153R |
probably damaging |
Het |
Hip1 |
A |
G |
5: 135,463,147 (GRCm39) |
L60S |
probably damaging |
Het |
Hsf4 |
GCAGCACCGGGTCA |
G |
8: 105,998,060 (GRCm39) |
|
probably null |
Het |
Hydin |
A |
T |
8: 111,139,843 (GRCm39) |
|
probably null |
Het |
Igsf3 |
A |
T |
3: 101,338,843 (GRCm39) |
T386S |
possibly damaging |
Het |
Il12rb1 |
A |
G |
8: 71,263,702 (GRCm39) |
T88A |
possibly damaging |
Het |
Kank1 |
T |
C |
19: 25,401,545 (GRCm39) |
S1051P |
probably damaging |
Het |
Kap |
A |
G |
6: 133,828,879 (GRCm39) |
|
probably null |
Het |
Ly96 |
A |
G |
1: 16,771,091 (GRCm39) |
E74G |
probably damaging |
Het |
Map7d1 |
G |
T |
4: 126,136,097 (GRCm39) |
|
probably null |
Het |
Megf6 |
G |
T |
4: 154,336,980 (GRCm39) |
R253L |
probably benign |
Het |
Mex3b |
A |
G |
7: 82,518,459 (GRCm39) |
D258G |
probably damaging |
Het |
Mpzl3 |
T |
C |
9: 44,973,408 (GRCm39) |
I49T |
possibly damaging |
Het |
Myh15 |
C |
A |
16: 48,921,870 (GRCm39) |
T472N |
probably benign |
Het |
Nacad |
A |
G |
11: 6,551,611 (GRCm39) |
S527P |
probably damaging |
Het |
Nkx2-3 |
T |
G |
19: 43,601,147 (GRCm39) |
S70A |
probably benign |
Het |
Nkx2-6 |
A |
T |
14: 69,409,342 (GRCm39) |
Q31L |
probably benign |
Het |
Or6ae1 |
A |
G |
7: 139,742,632 (GRCm39) |
V77A |
probably damaging |
Het |
Pcdha6 |
A |
T |
18: 37,101,844 (GRCm39) |
N346Y |
probably damaging |
Het |
Pkd2 |
G |
A |
5: 104,607,785 (GRCm39) |
D95N |
probably benign |
Het |
Pkhd1l1 |
A |
G |
15: 44,410,544 (GRCm39) |
T2684A |
probably damaging |
Het |
Plin2 |
A |
G |
4: 86,575,383 (GRCm39) |
Y389H |
probably damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Slc41a2 |
T |
C |
10: 83,149,275 (GRCm39) |
|
probably null |
Het |
Smg6 |
A |
G |
11: 74,932,822 (GRCm39) |
T1038A |
probably damaging |
Het |
Suds3 |
T |
C |
5: 117,238,664 (GRCm39) |
|
probably benign |
Het |
Tbc1d8 |
T |
C |
1: 39,424,213 (GRCm39) |
H626R |
probably benign |
Het |
Tmem260 |
T |
A |
14: 48,746,573 (GRCm39) |
H616Q |
probably benign |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Ubr4 |
A |
G |
4: 139,137,960 (GRCm39) |
T1106A |
probably benign |
Het |
Vmn1r84 |
A |
T |
7: 12,096,385 (GRCm39) |
S103T |
probably benign |
Het |
Vps13a |
G |
T |
19: 16,662,679 (GRCm39) |
P1602Q |
probably damaging |
Het |
|
Other mutations in Trip10 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01071:Trip10
|
APN |
17 |
57,561,332 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL01639:Trip10
|
APN |
17 |
57,561,165 (GRCm39) |
unclassified |
probably benign |
|
IGL01758:Trip10
|
APN |
17 |
57,568,409 (GRCm39) |
missense |
possibly damaging |
0.51 |
IGL02184:Trip10
|
APN |
17 |
57,564,272 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02554:Trip10
|
APN |
17 |
57,570,135 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02641:Trip10
|
APN |
17 |
57,569,411 (GRCm39) |
missense |
probably benign |
0.06 |
R0092:Trip10
|
UTSW |
17 |
57,557,798 (GRCm39) |
missense |
possibly damaging |
0.46 |
R0139:Trip10
|
UTSW |
17 |
57,568,633 (GRCm39) |
splice site |
probably null |
|
R0179:Trip10
|
UTSW |
17 |
57,569,349 (GRCm39) |
splice site |
probably benign |
|
R1173:Trip10
|
UTSW |
17 |
57,560,363 (GRCm39) |
missense |
probably damaging |
0.98 |
R1416:Trip10
|
UTSW |
17 |
57,557,800 (GRCm39) |
missense |
probably damaging |
1.00 |
R2223:Trip10
|
UTSW |
17 |
57,570,039 (GRCm39) |
missense |
possibly damaging |
0.70 |
R2259:Trip10
|
UTSW |
17 |
57,562,135 (GRCm39) |
missense |
probably benign |
0.00 |
R3950:Trip10
|
UTSW |
17 |
57,560,411 (GRCm39) |
critical splice donor site |
probably null |
|
R4420:Trip10
|
UTSW |
17 |
57,562,448 (GRCm39) |
missense |
probably benign |
0.05 |
R4643:Trip10
|
UTSW |
17 |
57,568,658 (GRCm39) |
nonsense |
probably null |
|
R4940:Trip10
|
UTSW |
17 |
57,570,017 (GRCm39) |
missense |
possibly damaging |
0.65 |
R5595:Trip10
|
UTSW |
17 |
57,569,460 (GRCm39) |
missense |
probably damaging |
1.00 |
R5946:Trip10
|
UTSW |
17 |
57,557,963 (GRCm39) |
missense |
probably damaging |
0.99 |
R6613:Trip10
|
UTSW |
17 |
57,562,197 (GRCm39) |
splice site |
probably null |
|
R6738:Trip10
|
UTSW |
17 |
57,563,899 (GRCm39) |
missense |
probably benign |
|
R6948:Trip10
|
UTSW |
17 |
57,569,448 (GRCm39) |
missense |
probably damaging |
1.00 |
R6994:Trip10
|
UTSW |
17 |
57,562,331 (GRCm39) |
missense |
probably damaging |
1.00 |
R7489:Trip10
|
UTSW |
17 |
57,557,966 (GRCm39) |
missense |
probably damaging |
1.00 |
R7729:Trip10
|
UTSW |
17 |
57,569,442 (GRCm39) |
missense |
probably damaging |
1.00 |
R7750:Trip10
|
UTSW |
17 |
57,568,667 (GRCm39) |
missense |
possibly damaging |
0.58 |
R8260:Trip10
|
UTSW |
17 |
57,564,314 (GRCm39) |
missense |
probably benign |
|
R8781:Trip10
|
UTSW |
17 |
57,562,313 (GRCm39) |
missense |
probably benign |
0.01 |
R9005:Trip10
|
UTSW |
17 |
57,569,416 (GRCm39) |
missense |
probably damaging |
0.99 |
R9108:Trip10
|
UTSW |
17 |
57,560,519 (GRCm39) |
missense |
probably damaging |
1.00 |
RF024:Trip10
|
UTSW |
17 |
57,562,045 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTGTATGAGCACGTGTAGC -3'
(R):5'- AGTGACTCATGCAGCTCTG -3'
Sequencing Primer
(F):5'- ACTGACATGCTGCTCAGATG -3'
(R):5'- AGCTCTGCCTGCCACCAG -3'
|
Posted On |
2016-07-22 |