Incidental Mutation 'IGL02641:Trip10'
| ID |
301733 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Trip10
|
| Ensembl Gene |
ENSMUSG00000019487 |
| Gene Name |
thyroid hormone receptor interactor 10 |
| Synonyms |
Cip4 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.753)
|
| Stock # |
IGL02641
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
57556455-57570665 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 57569411 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 478
(D478E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153467
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019631]
[ENSMUST00000224152]
[ENSMUST00000224885]
[ENSMUST00000224947]
|
| AlphaFold |
Q8CJ53 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019631
AA Change: D477E
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000019631
Gene: ENSMUSG00000019487
AA Change: D477E
| 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 benign
Transcript: ENSMUST00000224152
AA Change: D534E
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224261
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224885
AA Change: D533E
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224904
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224947
AA Change: D478E
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| Coding Region Coverage |
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3100002H09Rik |
A |
T |
4: 124,504,510 (GRCm39) |
M14K |
unknown |
Het |
| Arhgap24 |
T |
C |
5: 103,040,386 (GRCm39) |
V441A |
probably damaging |
Het |
| Cdv3 |
G |
T |
9: 103,241,223 (GRCm39) |
Q115K |
probably damaging |
Het |
| Clstn1 |
G |
T |
4: 149,713,968 (GRCm39) |
G207C |
probably null |
Het |
| Col28a1 |
A |
T |
6: 8,014,794 (GRCm39) |
Y870* |
probably null |
Het |
| Creb3 |
A |
C |
4: 43,563,311 (GRCm39) |
H136P |
probably benign |
Het |
| Dcaf17 |
G |
A |
2: 70,912,375 (GRCm39) |
C320Y |
probably damaging |
Het |
| Fbl |
T |
C |
7: 27,874,471 (GRCm39) |
S66P |
probably damaging |
Het |
| Fgfrl1 |
C |
A |
5: 108,853,731 (GRCm39) |
S279R |
probably damaging |
Het |
| Gdpgp1 |
C |
T |
7: 79,888,796 (GRCm39) |
R276* |
probably null |
Het |
| Hcfc2 |
A |
G |
10: 82,538,383 (GRCm39) |
Y140C |
probably damaging |
Het |
| Ighg3 |
A |
G |
12: 113,323,818 (GRCm39) |
I190T |
unknown |
Het |
| Itgav |
T |
C |
2: 83,598,689 (GRCm39) |
|
probably benign |
Het |
| Lce1c |
C |
A |
3: 92,587,845 (GRCm39) |
|
probably benign |
Het |
| Ldoc1 |
G |
A |
X: 60,753,419 (GRCm39) |
C35Y |
probably damaging |
Het |
| Lrp10 |
T |
A |
14: 54,706,068 (GRCm39) |
C419* |
probably null |
Het |
| Micall2 |
T |
C |
5: 139,705,094 (GRCm39) |
D80G |
probably damaging |
Het |
| Or5b21 |
T |
A |
19: 12,839,566 (GRCm39) |
C142* |
probably null |
Het |
| Pde3b |
C |
T |
7: 114,130,052 (GRCm39) |
T869I |
probably damaging |
Het |
| Pip5k1c |
C |
A |
10: 81,153,155 (GRCm39) |
|
probably null |
Het |
| Pkhd1 |
G |
A |
1: 20,628,976 (GRCm39) |
T657I |
possibly damaging |
Het |
| Pnisr |
A |
G |
4: 21,860,908 (GRCm39) |
N197S |
probably benign |
Het |
| Rpl21-ps4 |
G |
A |
14: 11,227,661 (GRCm38) |
|
noncoding transcript |
Het |
| Rtn4rl1 |
A |
C |
11: 75,156,650 (GRCm39) |
T361P |
probably damaging |
Het |
| Spaca9 |
C |
A |
2: 28,585,963 (GRCm39) |
E34* |
probably null |
Het |
| Tsc22d2 |
A |
G |
3: 58,323,576 (GRCm39) |
D156G |
probably damaging |
Het |
| Ufc1 |
T |
C |
1: 171,117,764 (GRCm39) |
D50G |
probably damaging |
Het |
| Vmn1r202 |
T |
G |
13: 22,686,274 (GRCm39) |
I48L |
probably benign |
Het |
| Vmn2r111 |
A |
T |
17: 22,792,205 (GRCm39) |
V17E |
possibly damaging |
Het |
| Vps13a |
T |
A |
19: 16,676,185 (GRCm39) |
M1263L |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation