Incidental Mutation 'R3878:Ttc7'
ID |
474351 |
Institutional Source |
Beutler Lab
|
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 # |
R3878 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
87590328-87689197 bp(+) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
A to C
at 87678166 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114181
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041110]
[ENSMUST00000125875]
[ENSMUST00000154255]
|
AlphaFold |
Q8BGB2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000041110
|
SMART Domains |
Protein: ENSMUSP00000040771 Gene: ENSMUSG00000036918
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 |
unknown
Transcript: ENSMUST00000125875
AA Change: D811A
|
SMART Domains |
Protein: ENSMUSP00000115351 Gene: ENSMUSG00000036918 AA Change: D811A
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: ENSMUST00000154255
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700020A23Rik |
C |
T |
2: 130,247,560 (GRCm39) |
T32M |
probably benign |
Het |
A2ml1 |
T |
C |
6: 128,531,324 (GRCm39) |
S915G |
probably benign |
Het |
Ablim1 |
T |
C |
19: 57,025,642 (GRCm39) |
|
probably null |
Het |
Atosb |
T |
G |
4: 43,035,867 (GRCm39) |
H288P |
probably damaging |
Het |
Cadm2 |
C |
T |
16: 66,612,329 (GRCm39) |
E78K |
probably damaging |
Het |
Ceacam5 |
C |
T |
7: 17,484,506 (GRCm39) |
P416L |
probably damaging |
Het |
Chsy3 |
T |
C |
18: 59,542,845 (GRCm39) |
F661S |
probably damaging |
Het |
Clstn3 |
G |
A |
6: 124,434,901 (GRCm39) |
T338I |
probably damaging |
Het |
Ctif |
A |
G |
18: 75,653,048 (GRCm39) |
I403T |
probably damaging |
Het |
Dnaaf9 |
T |
C |
2: 130,620,423 (GRCm39) |
R237G |
possibly damaging |
Het |
Eprs1 |
T |
A |
1: 185,148,150 (GRCm39) |
|
probably null |
Het |
Frs2 |
A |
C |
10: 116,914,815 (GRCm39) |
S35A |
probably benign |
Het |
Gpr155 |
C |
T |
2: 73,198,736 (GRCm39) |
W394* |
probably null |
Het |
Ift140 |
G |
A |
17: 25,247,918 (GRCm39) |
V259M |
probably benign |
Het |
Igkv9-124 |
A |
T |
6: 67,919,191 (GRCm39) |
S74T |
probably benign |
Het |
Krt14 |
C |
T |
11: 100,097,915 (GRCm39) |
V123M |
possibly damaging |
Het |
Mcm2 |
G |
A |
6: 88,869,990 (GRCm39) |
R60C |
probably damaging |
Het |
Nebl |
T |
C |
2: 17,398,063 (GRCm39) |
T457A |
possibly damaging |
Het |
Nlrp4g |
A |
G |
9: 124,349,362 (GRCm38) |
|
noncoding transcript |
Het |
Nsa2 |
C |
G |
13: 97,268,542 (GRCm39) |
G175A |
probably benign |
Het |
Or8k40 |
T |
C |
2: 86,584,972 (GRCm39) |
T37A |
probably benign |
Het |
Pax1 |
A |
T |
2: 147,204,228 (GRCm39) |
|
probably benign |
Het |
Pdzd2 |
T |
C |
15: 12,376,262 (GRCm39) |
E1291G |
probably benign |
Het |
Relb |
G |
A |
7: 19,351,769 (GRCm39) |
H115Y |
probably damaging |
Het |
Rnase10 |
A |
G |
14: 51,246,889 (GRCm39) |
E52G |
probably damaging |
Het |
Sla2 |
G |
A |
2: 156,717,862 (GRCm39) |
R137C |
probably damaging |
Het |
Slc14a2 |
C |
T |
18: 78,202,289 (GRCm39) |
V614I |
probably benign |
Het |
Slc20a2 |
T |
C |
8: 23,058,399 (GRCm39) |
L645P |
possibly damaging |
Het |
Smoc2 |
A |
G |
17: 14,545,879 (GRCm39) |
D56G |
probably damaging |
Het |
Szt2 |
A |
G |
4: 118,247,782 (GRCm39) |
S789P |
probably damaging |
Het |
Tenm2 |
A |
G |
11: 36,030,401 (GRCm39) |
|
probably null |
Het |
Tm9sf3 |
A |
G |
19: 41,235,152 (GRCm39) |
V169A |
probably damaging |
Het |
Trbv13-1 |
C |
T |
6: 41,093,322 (GRCm39) |
T86I |
probably benign |
Het |
Trim24 |
A |
G |
6: 37,941,708 (GRCm39) |
D886G |
probably benign |
Het |
Trim33 |
A |
G |
3: 103,259,321 (GRCm39) |
I1003M |
probably damaging |
Het |
Trim37 |
T |
C |
11: 87,096,828 (GRCm39) |
V777A |
probably benign |
Het |
Ttn |
T |
C |
2: 76,596,364 (GRCm39) |
D11856G |
possibly damaging |
Het |
Vmn1r226 |
A |
T |
17: 20,908,260 (GRCm39) |
D164V |
possibly damaging |
Het |
Vmn1r34 |
G |
A |
6: 66,614,552 (GRCm39) |
T62I |
possibly damaging |
Het |
Wapl |
T |
C |
14: 34,414,104 (GRCm39) |
L322P |
probably damaging |
Het |
Zfp62 |
A |
G |
11: 49,105,960 (GRCm39) |
D17G |
probably damaging |
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 |
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 |
|
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 |
|
Predicted Primers |
|
Posted On |
2017-04-14 |