Incidental Mutation 'IGL02554:Trip10'
| ID |
298435 |
| 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: 0.808)
|
| Stock # |
IGL02554
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
57556455-57570665 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 57570135 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 544
(V544A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153467
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019631]
[ENSMUST00000224152]
[ENSMUST00000224885]
[ENSMUST00000224947]
|
| AlphaFold |
Q8CJ53 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000019631
AA Change: V543A
PolyPhen 2
Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000019631
Gene: ENSMUSG00000019487
AA Change: V543A
| 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 |
possibly damaging
Transcript: ENSMUST00000224152
AA Change: V600A
PolyPhen 2
Score 0.714 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224261
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224885
AA Change: V599A
PolyPhen 2
Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224904
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224947
AA Change: V544A
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
T |
A |
11: 48,838,830 (GRCm39) |
M586L |
probably damaging |
Het |
| Abcg3 |
T |
C |
5: 105,117,318 (GRCm39) |
D204G |
possibly damaging |
Het |
| Acox3 |
C |
A |
5: 35,765,710 (GRCm39) |
L588I |
probably damaging |
Het |
| Adamts9 |
G |
T |
6: 92,857,828 (GRCm39) |
L849I |
probably benign |
Het |
| Alkbh3 |
T |
G |
2: 93,826,692 (GRCm39) |
T170P |
probably damaging |
Het |
| Anks1b |
A |
T |
10: 90,757,240 (GRCm39) |
H300L |
probably damaging |
Het |
| Arhgap29 |
T |
C |
3: 121,786,173 (GRCm39) |
|
probably benign |
Het |
| Brd8dc |
A |
G |
18: 34,726,068 (GRCm39) |
S112P |
probably benign |
Het |
| Cd86 |
C |
T |
16: 36,438,847 (GRCm39) |
G181D |
probably benign |
Het |
| Cep68 |
A |
T |
11: 20,190,096 (GRCm39) |
H305Q |
possibly damaging |
Het |
| Cimip4 |
A |
G |
15: 78,262,736 (GRCm39) |
M245T |
possibly damaging |
Het |
| Clptm1l |
A |
T |
13: 73,755,879 (GRCm39) |
D165V |
probably benign |
Het |
| Dctn1 |
T |
C |
6: 83,159,704 (GRCm39) |
Y61H |
probably damaging |
Het |
| Dnah7a |
A |
T |
1: 53,657,205 (GRCm39) |
M857K |
possibly damaging |
Het |
| Gpr158 |
A |
G |
2: 21,831,407 (GRCm39) |
M836V |
probably benign |
Het |
| Gria1 |
G |
T |
11: 57,180,314 (GRCm39) |
A755S |
possibly damaging |
Het |
| Helb |
G |
A |
10: 119,925,617 (GRCm39) |
T920M |
probably damaging |
Het |
| Hr |
T |
C |
14: 70,797,306 (GRCm39) |
|
probably benign |
Het |
| Igf2bp1 |
A |
G |
11: 95,864,994 (GRCm39) |
S152P |
probably damaging |
Het |
| Iqsec1 |
T |
C |
6: 90,646,327 (GRCm39) |
Y784C |
probably damaging |
Het |
| Ldah |
T |
A |
12: 8,333,935 (GRCm39) |
C275* |
probably null |
Het |
| Lpin3 |
T |
C |
2: 160,738,707 (GRCm39) |
S220P |
probably damaging |
Het |
| Med23 |
T |
C |
10: 24,774,473 (GRCm39) |
|
probably null |
Het |
| Mllt1 |
T |
C |
17: 57,206,806 (GRCm39) |
D346G |
probably benign |
Het |
| Myef2 |
A |
C |
2: 124,942,345 (GRCm39) |
|
probably null |
Het |
| Myh2 |
A |
G |
11: 67,079,991 (GRCm39) |
S1095G |
probably benign |
Het |
| Nav1 |
A |
G |
1: 135,512,651 (GRCm39) |
|
silent |
Het |
| Or10a3m |
A |
G |
7: 108,312,949 (GRCm39) |
M118V |
possibly damaging |
Het |
| Piwil2 |
G |
A |
14: 70,628,935 (GRCm39) |
|
probably benign |
Het |
| Pkhd1l1 |
T |
A |
15: 44,441,896 (GRCm39) |
F3612I |
probably damaging |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| S100pbp |
A |
T |
4: 129,075,644 (GRCm39) |
|
probably null |
Het |
| Scnn1b |
T |
C |
7: 121,516,746 (GRCm39) |
I495T |
probably damaging |
Het |
| Sgo2b |
A |
C |
8: 64,379,571 (GRCm39) |
V1087G |
probably damaging |
Het |
| Sil1 |
A |
T |
18: 35,481,786 (GRCm39) |
V91E |
probably damaging |
Het |
| Slc5a4b |
A |
G |
10: 75,946,685 (GRCm39) |
I29T |
possibly damaging |
Het |
| Spink5 |
A |
T |
18: 44,148,661 (GRCm39) |
N908I |
probably benign |
Het |
| Svopl |
A |
C |
6: 37,993,978 (GRCm39) |
I351S |
probably damaging |
Het |
| Syngr3 |
A |
G |
17: 24,905,302 (GRCm39) |
V198A |
probably benign |
Het |
| Tbck |
C |
A |
3: 132,456,953 (GRCm39) |
Y622* |
probably null |
Het |
| Tkt |
T |
A |
14: 30,280,737 (GRCm39) |
M56K |
probably damaging |
Het |
| Txndc16 |
T |
C |
14: 45,409,995 (GRCm39) |
E195G |
probably damaging |
Het |
| Vmn2r69 |
G |
A |
7: 85,059,014 (GRCm39) |
P516S |
probably damaging |
Het |
| Vmn2r74 |
T |
C |
7: 85,606,581 (GRCm39) |
N255S |
probably benign |
Het |
| Xpo4 |
T |
C |
14: 57,827,545 (GRCm39) |
T884A |
probably benign |
Het |
| Zdhhc2 |
A |
G |
8: 40,915,155 (GRCm39) |
N167S |
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 |
|
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 |
|
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