Incidental Mutation 'R4643:Trip10'
| ID |
351749 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trip10
|
| Ensembl Gene |
ENSMUSG00000019487 |
| Gene Name |
thyroid hormone receptor interactor 10 |
| Synonyms |
Cip4 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.808)
|
| Stock # |
R4643 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
57556455-57570665 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 57568658 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 416
(E416*)
|
| 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
AA Change: E416*
|
| SMART Domains |
Protein: ENSMUSP00000019631
Gene: ENSMUSG00000019487
AA Change: E416*
| 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
AA Change: E472*
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224261
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000224885
AA Change: E472*
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224904
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000224947
AA Change: E416*
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
A |
G |
13: 119,611,396 (GRCm39) |
N398D |
probably damaging |
Het |
| Adamtsl4 |
G |
A |
3: 95,591,929 (GRCm39) |
A58V |
possibly damaging |
Het |
| Anapc2 |
T |
A |
2: 25,166,406 (GRCm39) |
V105E |
probably benign |
Het |
| C3ar1 |
A |
T |
6: 122,827,933 (GRCm39) |
C95S |
probably damaging |
Het |
| Ccdc87 |
G |
A |
19: 4,891,877 (GRCm39) |
G790R |
probably damaging |
Het |
| Cenpf |
A |
T |
1: 189,391,786 (GRCm39) |
M682K |
probably benign |
Het |
| Cyp2j13 |
T |
C |
4: 95,945,161 (GRCm39) |
Q289R |
possibly damaging |
Het |
| Dclk2 |
A |
T |
3: 86,713,487 (GRCm39) |
M453K |
possibly damaging |
Het |
| Dscam |
G |
A |
16: 96,486,501 (GRCm39) |
T1058M |
probably damaging |
Het |
| Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,266,820 (GRCm39) |
|
probably benign |
Het |
| Grip1 |
A |
G |
10: 119,856,006 (GRCm39) |
N659S |
probably damaging |
Het |
| Hectd4 |
A |
G |
5: 121,487,118 (GRCm39) |
K3371R |
possibly damaging |
Het |
| Il1a |
T |
A |
2: 129,146,623 (GRCm39) |
T157S |
probably benign |
Het |
| Il23r |
A |
G |
6: 67,400,977 (GRCm39) |
V451A |
probably benign |
Het |
| Iqch |
T |
C |
9: 63,502,084 (GRCm39) |
T40A |
probably benign |
Het |
| Irag2 |
A |
T |
6: 145,113,786 (GRCm39) |
D318V |
probably benign |
Het |
| Kazald1 |
G |
T |
19: 45,066,788 (GRCm39) |
V196L |
probably benign |
Het |
| L1td1 |
T |
C |
4: 98,626,120 (GRCm39) |
S772P |
probably damaging |
Het |
| Lgi1 |
A |
T |
19: 38,289,158 (GRCm39) |
D145V |
probably damaging |
Het |
| Lrp12 |
A |
T |
15: 39,735,418 (GRCm39) |
L838Q |
probably damaging |
Het |
| Mrgprf |
C |
A |
7: 144,862,242 (GRCm39) |
P268Q |
probably benign |
Het |
| Myef2 |
T |
C |
2: 124,958,731 (GRCm39) |
K66R |
possibly damaging |
Het |
| Myo3b |
A |
G |
2: 70,069,186 (GRCm39) |
D475G |
possibly damaging |
Het |
| Numa1 |
C |
G |
7: 101,649,872 (GRCm39) |
|
probably null |
Het |
| Or6c214 |
T |
C |
10: 129,590,824 (GRCm39) |
E165G |
probably damaging |
Het |
| Prdm8 |
T |
C |
5: 98,332,446 (GRCm39) |
S116P |
possibly damaging |
Het |
| Pyroxd1 |
C |
G |
6: 142,300,467 (GRCm39) |
S199* |
probably null |
Het |
| R3hcc1l |
G |
T |
19: 42,551,239 (GRCm39) |
V79F |
probably benign |
Het |
| Rasal1 |
C |
T |
5: 120,817,029 (GRCm39) |
T779I |
probably benign |
Het |
| Scaper |
A |
C |
9: 55,745,463 (GRCm39) |
F596V |
probably damaging |
Het |
| Slco2b1 |
C |
T |
7: 99,316,214 (GRCm39) |
V439M |
probably benign |
Het |
| Slco6c1 |
A |
T |
1: 96,990,149 (GRCm39) |
D680E |
probably benign |
Het |
| Smurf1 |
A |
T |
5: 144,816,179 (GRCm39) |
F725L |
probably damaging |
Het |
| Snd1 |
A |
G |
6: 28,880,248 (GRCm39) |
E674G |
probably benign |
Het |
| Srcap |
C |
T |
7: 127,140,948 (GRCm39) |
P1515L |
probably damaging |
Het |
| Sycp2l |
A |
G |
13: 41,296,941 (GRCm39) |
M341V |
probably benign |
Het |
| Tmprss6 |
T |
A |
15: 78,329,556 (GRCm39) |
I492F |
probably damaging |
Het |
| Tstd2 |
T |
C |
4: 46,129,297 (GRCm39) |
D177G |
possibly damaging |
Het |
| Ugt1a5 |
A |
T |
1: 88,094,147 (GRCm39) |
N125I |
possibly damaging |
Het |
| Vmn2r7 |
G |
T |
3: 64,623,825 (GRCm39) |
S165Y |
probably damaging |
Het |
| Zfp663 |
A |
T |
2: 165,194,925 (GRCm39) |
H431Q |
probably benign |
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 |
|
R4940:Trip10
|
UTSW |
17 |
57,570,017 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5189:Trip10
|
UTSW |
17 |
57,568,288 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
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'- GCATGAGTCACTGTGGGGT -3'
(R):5'- AAAGACAGGAGCATGACCCC -3'
Sequencing Primer
(F):5'- CACTGTGGGGTGGGGGAC -3'
(R):5'- GAGATTCTAGGCCAGTGCTATACC -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation