Incidental Mutation 'IGL00980:Ttc7'
ID |
29361 |
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 # |
IGL00980
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
87590328-87689197 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 87628874 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Proline
at position 271
(T271P)
|
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: T271P
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000040771 Gene: ENSMUSG00000036918 AA Change: T271P
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: T271P
PolyPhen 2
Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000115351 Gene: ENSMUSG00000036918 AA Change: T271P
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 |
noncoding transcript
Transcript: ENSMUST00000127970
|
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 |
noncoding transcript
Transcript: ENSMUST00000153014
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000154255
|
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam2 |
A |
T |
14: 66,293,977 (GRCm39) |
Y283* |
probably null |
Het |
Bend3 |
C |
A |
10: 43,387,562 (GRCm39) |
Q652K |
probably damaging |
Het |
Bltp1 |
C |
T |
3: 37,054,190 (GRCm39) |
T3103I |
probably damaging |
Het |
Ccdc136 |
G |
A |
6: 29,420,257 (GRCm39) |
S992N |
probably damaging |
Het |
Cct6a |
T |
C |
5: 129,868,856 (GRCm39) |
|
probably benign |
Het |
Cd74 |
A |
T |
18: 60,944,398 (GRCm39) |
I203F |
probably benign |
Het |
Cd8b1 |
C |
A |
6: 71,309,463 (GRCm39) |
C182* |
probably null |
Het |
Cmtr1 |
T |
A |
17: 29,910,258 (GRCm39) |
D454E |
probably benign |
Het |
Cyp2b13 |
T |
A |
7: 25,781,152 (GRCm39) |
F188Y |
probably benign |
Het |
Dppa2 |
T |
C |
16: 48,132,049 (GRCm39) |
S49P |
possibly damaging |
Het |
Fhl5 |
G |
T |
4: 25,207,181 (GRCm39) |
L196I |
possibly damaging |
Het |
Gimap4 |
T |
A |
6: 48,667,872 (GRCm39) |
V81D |
probably damaging |
Het |
Gm4884 |
T |
G |
7: 40,693,150 (GRCm39) |
M373R |
probably damaging |
Het |
Gnrhr |
C |
T |
5: 86,345,162 (GRCm39) |
|
probably null |
Het |
H2-Oa |
T |
G |
17: 34,313,537 (GRCm39) |
L196R |
probably damaging |
Het |
Icosl |
T |
C |
10: 77,907,805 (GRCm39) |
S122P |
probably damaging |
Het |
Itpr3 |
A |
G |
17: 27,329,930 (GRCm39) |
T1575A |
probably benign |
Het |
Krt80 |
T |
C |
15: 101,247,879 (GRCm39) |
K373E |
possibly damaging |
Het |
Lamp1 |
G |
A |
8: 13,221,195 (GRCm39) |
|
probably benign |
Het |
Npvf |
T |
C |
6: 50,627,865 (GRCm39) |
K185E |
probably damaging |
Het |
Nuf2 |
A |
G |
1: 169,338,003 (GRCm39) |
M258T |
probably damaging |
Het |
Or6b2 |
T |
C |
1: 92,407,402 (GRCm39) |
|
probably null |
Het |
Or8b36 |
G |
A |
9: 37,937,107 (GRCm39) |
V2I |
probably benign |
Het |
Smurf2 |
A |
C |
11: 106,726,921 (GRCm39) |
I469S |
probably damaging |
Het |
Soat1 |
T |
A |
1: 156,268,911 (GRCm39) |
H180L |
probably benign |
Het |
Spink5 |
G |
T |
18: 44,140,777 (GRCm39) |
D659Y |
probably damaging |
Het |
Sprtn |
T |
C |
8: 125,627,037 (GRCm39) |
M139T |
probably damaging |
Het |
Tas2r140 |
T |
C |
6: 40,468,352 (GRCm39) |
S61P |
possibly damaging |
Het |
Tec |
G |
A |
5: 72,944,141 (GRCm39) |
L89F |
probably damaging |
Het |
Trav21-dv12 |
A |
T |
14: 54,114,107 (GRCm39) |
M76L |
probably benign |
Het |
Tyk2 |
G |
A |
9: 21,031,884 (GRCm39) |
T397I |
probably benign |
Het |
Ugt1a6b |
T |
A |
1: 88,035,327 (GRCm39) |
Y222N |
possibly damaging |
Het |
Vmn2r2 |
A |
T |
3: 64,024,601 (GRCm39) |
M660K |
probably benign |
Het |
Vmn2r52 |
T |
A |
7: 9,905,017 (GRCm39) |
Y274F |
probably damaging |
Het |
Wscd1 |
A |
C |
11: 71,679,768 (GRCm39) |
N547T |
possibly damaging |
Het |
Zfp335 |
C |
A |
2: 164,744,594 (GRCm39) |
E394* |
probably null |
Het |
|
Other mutations in Ttc7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00341:Ttc7
|
APN |
17 |
87,670,992 (GRCm39) |
missense |
possibly damaging |
0.66 |
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 |
2013-04-17 |