Incidental Mutation 'IGL00341:Ttc7'
| ID |
3406 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ttc7
|
| Ensembl Gene |
ENSMUSG00000036918 |
| Gene Name |
tetratricopeptide repeat domain 7 |
| Synonyms |
fsn, 1700007L07Rik, 1110035E02Rik, hea |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.854)
|
| Stock # |
IGL00341
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
87590328-87689197 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 87670992 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 709
(T709I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040771
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041110]
[ENSMUST00000125875]
[ENSMUST00000144204]
[ENSMUST00000154255]
|
| AlphaFold |
Q8BGB2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041110
AA Change: T709I
PolyPhen 2
Score 0.664 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000040771
Gene: ENSMUSG00000036918
AA Change: T709I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
40 |
56 |
N/A |
INTRINSIC |
|
low complexity region
|
68 |
76 |
N/A |
INTRINSIC |
|
Pfam:TPR_9
|
387 |
458 |
8.7e-4 |
PFAM |
|
Blast:TPR
|
488 |
532 |
7e-20 |
BLAST |
|
Blast:TPR
|
534 |
566 |
3e-7 |
BLAST |
|
TPR
|
567 |
600 |
1.11e1 |
SMART |
|
low complexity region
|
666 |
684 |
N/A |
INTRINSIC |
|
TPR
|
711 |
744 |
7.89e1 |
SMART |
|
TPR
|
745 |
778 |
3.87e-2 |
SMART |
|
TPR
|
779 |
812 |
9.99e1 |
SMART |
|
TPR
|
813 |
846 |
1.39e-3 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000125875
AA Change: T709I
PolyPhen 2
Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000115351
Gene: ENSMUSG00000036918
AA Change: T709I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
40 |
56 |
N/A |
INTRINSIC |
|
low complexity region
|
68 |
76 |
N/A |
INTRINSIC |
|
Pfam:TPR_9
|
387 |
458 |
1.2e-3 |
PFAM |
|
Blast:TPR
|
488 |
532 |
7e-20 |
BLAST |
|
Blast:TPR
|
534 |
566 |
3e-7 |
BLAST |
|
TPR
|
567 |
600 |
1.11e1 |
SMART |
|
low complexity region
|
666 |
684 |
N/A |
INTRINSIC |
|
TPR
|
711 |
744 |
7.89e1 |
SMART |
|
TPR
|
745 |
778 |
3.87e-2 |
SMART |
|
low complexity region
|
787 |
801 |
N/A |
INTRINSIC |
|
low complexity region
|
806 |
818 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144204
|
| SMART Domains |
Protein: ENSMUSP00000122563
Gene: ENSMUSG00000036918
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
40 |
56 |
N/A |
INTRINSIC |
|
low complexity region
|
68 |
76 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154255
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159031
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing tetratricopeptide repeats. Mutations in this gene disrupt intestinal development and can cause early onset inflammatory bowel disease and intestinal atresia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
PHENOTYPE: Homozygotes for a spontaneous mutation exhibit reduced growth, sparse hair, thickened, scaly skin, increased numbers of splenic B cells, macrophages, and erythroid cells, elevated IgE, glomerulonephritis, and forestomach papillomas. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef5 |
T |
A |
6: 43,257,203 (GRCm39) |
Y519* |
probably null |
Het |
| Bahcc1 |
A |
G |
11: 120,163,130 (GRCm39) |
Y476C |
probably damaging |
Het |
| Bclaf1 |
A |
T |
10: 20,201,745 (GRCm39) |
E295D |
probably damaging |
Het |
| Bend3 |
A |
G |
10: 43,387,539 (GRCm39) |
D644G |
probably damaging |
Het |
| Ccdc122 |
G |
A |
14: 77,329,179 (GRCm39) |
M77I |
probably benign |
Het |
| Ccna1 |
A |
G |
3: 54,958,076 (GRCm39) |
V143A |
probably damaging |
Het |
| Dnah11 |
T |
C |
12: 118,162,480 (GRCm39) |
R30G |
probably benign |
Het |
| Hoxc4 |
A |
G |
15: 102,944,264 (GRCm39) |
D214G |
probably damaging |
Het |
| Itsn2 |
A |
T |
12: 4,708,027 (GRCm39) |
T778S |
possibly damaging |
Het |
| Kcnn2 |
A |
G |
18: 45,810,138 (GRCm39) |
|
probably benign |
Het |
| Krtap5-3 |
G |
T |
7: 141,755,612 (GRCm39) |
|
probably benign |
Het |
| Lgr5 |
G |
T |
10: 115,290,369 (GRCm39) |
Q516K |
possibly damaging |
Het |
| Lrpprc |
T |
C |
17: 85,057,953 (GRCm39) |
K759R |
possibly damaging |
Het |
| Mtfr2 |
A |
G |
10: 20,233,394 (GRCm39) |
D321G |
probably damaging |
Het |
| Nip7 |
A |
G |
8: 107,783,802 (GRCm39) |
Y45C |
possibly damaging |
Het |
| Or4c111 |
T |
C |
2: 88,844,268 (GRCm39) |
I47V |
probably benign |
Het |
| Pak1ip1 |
A |
T |
13: 41,161,494 (GRCm39) |
T84S |
possibly damaging |
Het |
| Ptpn20 |
C |
A |
14: 33,344,576 (GRCm39) |
R167S |
probably benign |
Het |
| Rab4b |
C |
T |
7: 26,872,151 (GRCm39) |
G190S |
probably damaging |
Het |
| Ropn1l |
T |
A |
15: 31,443,495 (GRCm39) |
D179V |
probably damaging |
Het |
| Shc2 |
C |
T |
10: 79,456,903 (GRCm39) |
R571Q |
probably damaging |
Het |
| Smad1 |
A |
G |
8: 80,083,098 (GRCm39) |
V134A |
probably damaging |
Het |
| Smad6 |
A |
G |
9: 63,861,263 (GRCm39) |
V344A |
probably damaging |
Het |
| Tet2 |
A |
G |
3: 133,193,846 (GRCm39) |
L196P |
possibly damaging |
Het |
| Tmem64 |
T |
A |
4: 15,266,694 (GRCm39) |
V248E |
probably damaging |
Het |
| Usp31 |
A |
G |
7: 121,305,893 (GRCm39) |
L195P |
probably damaging |
Het |
| Vmn2r112 |
G |
A |
17: 22,837,917 (GRCm39) |
V793I |
probably benign |
Het |
| Xpo5 |
T |
G |
17: 46,535,973 (GRCm39) |
L535R |
probably damaging |
Het |
| Ythdc2 |
A |
T |
18: 44,983,464 (GRCm39) |
M544L |
probably benign |
Het |
|
| Other mutations in Ttc7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00980:Ttc7
|
APN |
17 |
87,628,874 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL01638:Ttc7
|
APN |
17 |
87,666,540 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL01896:Ttc7
|
APN |
17 |
87,666,552 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02643:Ttc7
|
APN |
17 |
87,648,327 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0164:Ttc7
|
UTSW |
17 |
87,687,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0164:Ttc7
|
UTSW |
17 |
87,687,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0310:Ttc7
|
UTSW |
17 |
87,669,292 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0412:Ttc7
|
UTSW |
17 |
87,637,472 (GRCm39) |
missense |
probably benign |
0.20 |
|
R0520:Ttc7
|
UTSW |
17 |
87,666,579 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1216:Ttc7
|
UTSW |
17 |
87,654,006 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1262:Ttc7
|
UTSW |
17 |
87,648,364 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1337:Ttc7
|
UTSW |
17 |
87,597,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1537:Ttc7
|
UTSW |
17 |
87,629,891 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1586:Ttc7
|
UTSW |
17 |
87,669,373 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1678:Ttc7
|
UTSW |
17 |
87,669,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1747:Ttc7
|
UTSW |
17 |
87,614,443 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2146:Ttc7
|
UTSW |
17 |
87,654,135 (GRCm39) |
splice site |
probably benign |
|
|
R3878:Ttc7
|
UTSW |
17 |
87,678,166 (GRCm39) |
intron |
probably benign |
|
|
R3934:Ttc7
|
UTSW |
17 |
87,678,166 (GRCm39) |
intron |
probably benign |
|
|
R4007:Ttc7
|
UTSW |
17 |
87,597,679 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4256:Ttc7
|
UTSW |
17 |
87,628,829 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4671:Ttc7
|
UTSW |
17 |
87,654,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4676:Ttc7
|
UTSW |
17 |
87,678,163 (GRCm39) |
intron |
probably benign |
|
|
R4677:Ttc7
|
UTSW |
17 |
87,678,163 (GRCm39) |
intron |
probably benign |
|
|
R4784:Ttc7
|
UTSW |
17 |
87,648,325 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4833:Ttc7
|
UTSW |
17 |
87,641,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4927:Ttc7
|
UTSW |
17 |
87,654,133 (GRCm39) |
splice site |
probably null |
|
|
R4940:Ttc7
|
UTSW |
17 |
87,614,386 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5183:Ttc7
|
UTSW |
17 |
87,600,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5634:Ttc7
|
UTSW |
17 |
87,649,515 (GRCm39) |
missense |
probably benign |
|
|
R5710:Ttc7
|
UTSW |
17 |
87,597,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5867:Ttc7
|
UTSW |
17 |
87,629,900 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R6437:Ttc7
|
UTSW |
17 |
87,637,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6982:Ttc7
|
UTSW |
17 |
87,614,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7299:Ttc7
|
UTSW |
17 |
87,653,970 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7849:Ttc7
|
UTSW |
17 |
87,600,374 (GRCm39) |
missense |
probably null |
0.00 |
|
R8098:Ttc7
|
UTSW |
17 |
87,641,756 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8471:Ttc7
|
UTSW |
17 |
87,601,454 (GRCm39) |
missense |
probably benign |
0.24 |
|
R8889:Ttc7
|
UTSW |
17 |
87,637,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8892:Ttc7
|
UTSW |
17 |
87,637,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9225:Ttc7
|
UTSW |
17 |
87,637,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9427:Ttc7
|
UTSW |
17 |
87,678,147 (GRCm39) |
intron |
probably benign |
|
|
R9436:Ttc7
|
UTSW |
17 |
87,600,320 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Posted On |
2012-04-20 |
Incidental Mutation