Incidental Mutation 'IGL01638:Ttc7'
| ID |
93154 |
| 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: 0.871)
|
| Stock # |
IGL01638
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
87590328-87689197 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
A to C
at 87666540 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115351
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041110]
[ENSMUST00000125875]
[ENSMUST00000144204]
[ENSMUST00000154255]
|
| AlphaFold |
Q8BGB2 |
| Predicted Effect |
probably null
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 |
probably null
Transcript: ENSMUST00000125875
|
| SMART Domains |
Protein: ENSMUSP00000115351
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 |
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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts9 |
T |
C |
6: 92,849,409 (GRCm39) |
T436A |
probably benign |
Het |
| Adgrb3 |
T |
A |
1: 25,598,832 (GRCm39) |
|
probably benign |
Het |
| Ajap1 |
A |
G |
4: 153,516,693 (GRCm39) |
V216A |
possibly damaging |
Het |
| Akap7 |
T |
A |
10: 25,143,323 (GRCm39) |
I124F |
probably damaging |
Het |
| Arfgef2 |
G |
A |
2: 166,715,865 (GRCm39) |
V1385M |
probably damaging |
Het |
| Arhgap30 |
A |
G |
1: 171,225,138 (GRCm39) |
K65E |
probably damaging |
Het |
| Bltp1 |
A |
G |
3: 37,028,460 (GRCm39) |
N2377D |
probably damaging |
Het |
| Cacna1a |
T |
C |
8: 85,298,456 (GRCm39) |
F1260S |
probably damaging |
Het |
| Cad |
T |
A |
5: 31,224,958 (GRCm39) |
C954S |
probably damaging |
Het |
| Fcmr |
A |
T |
1: 130,802,859 (GRCm39) |
E157D |
probably benign |
Het |
| Gm4204 |
A |
T |
1: 135,160,873 (GRCm39) |
|
noncoding transcript |
Het |
| Gzmn |
A |
T |
14: 56,406,476 (GRCm39) |
D16E |
probably benign |
Het |
| Krt86 |
A |
C |
15: 101,373,353 (GRCm39) |
|
probably benign |
Het |
| Macc1 |
T |
C |
12: 119,410,246 (GRCm39) |
L338P |
probably benign |
Het |
| Ms4a6d |
A |
T |
19: 11,564,532 (GRCm39) |
L113Q |
probably damaging |
Het |
| Myh15 |
T |
C |
16: 48,889,843 (GRCm39) |
S145P |
probably damaging |
Het |
| Nav3 |
T |
C |
10: 109,688,724 (GRCm39) |
K518E |
probably damaging |
Het |
| Or8d6 |
T |
C |
9: 39,853,816 (GRCm39) |
S87P |
probably benign |
Het |
| Parp11 |
T |
A |
6: 127,468,492 (GRCm39) |
F181I |
probably benign |
Het |
| Ppil1 |
C |
A |
17: 29,480,766 (GRCm39) |
K52N |
probably benign |
Het |
| Prl5a1 |
T |
A |
13: 28,329,422 (GRCm39) |
C34S |
possibly damaging |
Het |
| Prss55 |
A |
G |
14: 64,314,636 (GRCm39) |
V178A |
probably benign |
Het |
| S100a7a |
A |
G |
3: 90,562,837 (GRCm39) |
D8G |
probably benign |
Het |
| Sh3glb2 |
A |
G |
2: 30,235,862 (GRCm39) |
V310A |
possibly damaging |
Het |
| Slc22a7 |
T |
C |
17: 46,748,920 (GRCm39) |
|
probably null |
Het |
| Slc27a6 |
A |
G |
18: 58,740,885 (GRCm39) |
D482G |
probably damaging |
Het |
| Smarcc2 |
T |
A |
10: 128,323,943 (GRCm39) |
|
probably benign |
Het |
| Specc1l |
T |
A |
10: 75,082,039 (GRCm39) |
Y478* |
probably null |
Het |
| Spryd3 |
A |
G |
15: 102,038,711 (GRCm39) |
|
probably null |
Het |
| Tcerg1l |
G |
A |
7: 137,881,805 (GRCm39) |
R295C |
probably damaging |
Het |
| Trpv1 |
T |
C |
11: 73,144,155 (GRCm39) |
I637T |
probably damaging |
Het |
| Vmn1r6 |
C |
T |
6: 56,980,177 (GRCm39) |
Q280* |
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 |
|
IGL00980:Ttc7
|
APN |
17 |
87,628,874 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
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 |
2013-12-09 |
Incidental Mutation