Incidental Mutation 'IGL02184:Trip10'
| ID |
284265 |
| 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 # |
IGL02184
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
57556455-57570665 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 57564272 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 341
(E341V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153467
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019631]
[ENSMUST00000224152]
[ENSMUST00000224885]
[ENSMUST00000224947]
[ENSMUST00000225664]
|
| AlphaFold |
Q8CJ53 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000019631
AA Change: E341V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000019631
Gene: ENSMUSG00000019487
AA Change: E341V
| 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 damaging
Transcript: ENSMUST00000224152
AA Change: E397V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224261
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224586
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224885
AA Change: E397V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224904
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224947
AA Change: E341V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225664
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225523
|
| 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 |
|---|
| Adam15 |
C |
T |
3: 89,253,241 (GRCm39) |
|
probably benign |
Het |
| Antxr2 |
A |
C |
5: 98,125,454 (GRCm39) |
|
probably null |
Het |
| Aopep |
T |
G |
13: 63,215,925 (GRCm39) |
I399S |
possibly damaging |
Het |
| Atp8b3 |
A |
C |
10: 80,363,067 (GRCm39) |
|
probably benign |
Het |
| Brwd1 |
A |
T |
16: 95,815,029 (GRCm39) |
M1417K |
probably damaging |
Het |
| Camk2d |
A |
T |
3: 126,591,422 (GRCm39) |
R297S |
probably damaging |
Het |
| Cntnap1 |
A |
T |
11: 101,069,191 (GRCm39) |
H215L |
probably damaging |
Het |
| Cytip |
T |
C |
2: 58,023,750 (GRCm39) |
S357G |
probably damaging |
Het |
| Eif1ad15 |
T |
C |
12: 88,287,951 (GRCm39) |
R101G |
probably benign |
Het |
| Fancg |
A |
G |
4: 43,006,872 (GRCm39) |
Y273H |
possibly damaging |
Het |
| Fbxo36 |
A |
G |
1: 84,858,885 (GRCm39) |
S57G |
probably benign |
Het |
| Fgf8 |
A |
T |
19: 45,725,655 (GRCm39) |
L141Q |
probably damaging |
Het |
| Grm5 |
C |
T |
7: 87,675,650 (GRCm39) |
T388M |
probably damaging |
Het |
| Hipk1 |
A |
G |
3: 103,666,066 (GRCm39) |
L589P |
possibly damaging |
Het |
| Kiz |
T |
C |
2: 146,731,520 (GRCm39) |
S337P |
probably benign |
Het |
| Lrrc37a |
A |
T |
11: 103,388,435 (GRCm39) |
I2330K |
unknown |
Het |
| Mdfic |
T |
A |
6: 15,770,366 (GRCm39) |
I124K |
possibly damaging |
Het |
| Mdfic2 |
T |
C |
6: 98,225,059 (GRCm39) |
S75G |
possibly damaging |
Het |
| Mttp |
A |
G |
3: 137,821,761 (GRCm39) |
|
probably null |
Het |
| Myom1 |
G |
A |
17: 71,379,132 (GRCm39) |
S632N |
possibly damaging |
Het |
| Nlrp12 |
T |
C |
7: 3,289,094 (GRCm39) |
K473E |
probably damaging |
Het |
| Nrp2 |
C |
A |
1: 62,758,099 (GRCm39) |
C28* |
probably null |
Het |
| Nwd2 |
G |
T |
5: 63,963,020 (GRCm39) |
G868V |
probably damaging |
Het |
| Or4a73 |
G |
A |
2: 89,420,637 (GRCm39) |
T274I |
probably damaging |
Het |
| Or4c58 |
G |
A |
2: 89,674,729 (GRCm39) |
A196V |
probably damaging |
Het |
| Or5w1 |
A |
G |
2: 87,487,136 (GRCm39) |
L43P |
probably damaging |
Het |
| Pappa |
A |
T |
4: 65,258,928 (GRCm39) |
M1559L |
possibly damaging |
Het |
| Pmm2 |
T |
A |
16: 8,455,668 (GRCm39) |
D10E |
possibly damaging |
Het |
| Polm |
T |
C |
11: 5,780,137 (GRCm39) |
Q300R |
probably benign |
Het |
| Prrc2b |
T |
A |
2: 32,111,467 (GRCm39) |
N1208K |
probably benign |
Het |
| Serpinb3c |
T |
C |
1: 107,199,648 (GRCm39) |
D291G |
probably damaging |
Het |
| Skic3 |
A |
G |
13: 76,259,810 (GRCm39) |
K37E |
probably damaging |
Het |
| Slc1a2 |
T |
C |
2: 102,578,889 (GRCm39) |
F268S |
probably damaging |
Het |
| Slc26a4 |
A |
G |
12: 31,599,948 (GRCm39) |
Y127H |
probably damaging |
Het |
| Slc29a4 |
A |
G |
5: 142,703,506 (GRCm39) |
Y260C |
probably damaging |
Het |
| Sorbs3 |
C |
T |
14: 70,421,455 (GRCm39) |
|
probably null |
Het |
| Spen |
T |
C |
4: 141,214,917 (GRCm39) |
Y534C |
unknown |
Het |
| Tmem237 |
T |
C |
1: 59,159,270 (GRCm39) |
|
probably null |
Het |
| Tnfrsf21 |
A |
T |
17: 43,396,354 (GRCm39) |
N546I |
probably benign |
Het |
| Tpgs2 |
T |
A |
18: 25,273,630 (GRCm39) |
D177V |
probably damaging |
Het |
| Tpx2 |
C |
T |
2: 152,724,240 (GRCm39) |
R339* |
probably null |
Het |
| Trim12c |
T |
C |
7: 103,997,430 (GRCm39) |
Y42C |
probably benign |
Het |
| Trpm8 |
A |
T |
1: 88,258,416 (GRCm39) |
|
probably null |
Het |
| Ubr1 |
T |
A |
2: 120,730,989 (GRCm39) |
I1221F |
probably benign |
Het |
| Ucp2 |
C |
T |
7: 100,148,529 (GRCm39) |
A301V |
probably benign |
Het |
| Zfyve1 |
T |
C |
12: 83,605,467 (GRCm39) |
I411V |
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 |
|
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 |
|
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