Incidental Mutation 'R6982:Ttc7'
| ID |
542756 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttc7
|
| Ensembl Gene |
ENSMUSG00000036918 |
| Gene Name |
tetratricopeptide repeat domain 7 |
| Synonyms |
fsn, 1700007L07Rik, 1110035E02Rik, hea |
| MMRRC Submission |
045383-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.871)
|
| Stock # |
R6982 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
87590328-87689197 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 87614437 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 201
(F201I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040771
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041110]
[ENSMUST00000125875]
[ENSMUST00000144204]
[ENSMUST00000154255]
|
| AlphaFold |
Q8BGB2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041110
AA Change: F201I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000040771
Gene: ENSMUSG00000036918
AA Change: F201I
| 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 damaging
Transcript: ENSMUST00000125875
AA Change: F201I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000115351
Gene: ENSMUSG00000036918
AA Change: F201I
| 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 96.7%
|
| Validation Efficiency |
98% (55/56) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts16 |
T |
A |
13: 70,916,639 (GRCm39) |
|
probably null |
Het |
| Adamtsl3 |
C |
A |
7: 82,164,271 (GRCm39) |
P362H |
probably damaging |
Het |
| Ambra1 |
G |
A |
2: 91,747,818 (GRCm39) |
V1065I |
probably damaging |
Het |
| Ankrd66 |
T |
C |
17: 43,849,926 (GRCm39) |
T79A |
probably damaging |
Het |
| Ano2 |
G |
A |
6: 125,969,856 (GRCm39) |
R724H |
probably benign |
Het |
| Bmp8a |
A |
G |
4: 123,218,934 (GRCm39) |
L158P |
probably damaging |
Het |
| C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
| Cilp |
T |
C |
9: 65,187,087 (GRCm39) |
Y1061H |
probably damaging |
Het |
| Clybl |
G |
A |
14: 122,639,359 (GRCm39) |
G308R |
probably damaging |
Het |
| Cntnap5c |
C |
T |
17: 58,399,247 (GRCm39) |
P367S |
possibly damaging |
Het |
| Col20a1 |
T |
C |
2: 180,638,499 (GRCm39) |
V371A |
probably benign |
Het |
| Col24a1 |
G |
T |
3: 145,020,807 (GRCm39) |
G393* |
probably null |
Het |
| Dnah12 |
A |
G |
14: 26,521,033 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
T |
A |
17: 30,986,899 (GRCm39) |
S3183T |
probably benign |
Het |
| Dph2 |
A |
T |
4: 117,746,993 (GRCm39) |
I435N |
probably benign |
Het |
| Fam3c |
G |
T |
6: 22,322,300 (GRCm39) |
A107D |
probably damaging |
Het |
| Fezf2 |
G |
T |
14: 12,343,645 (GRCm38) |
Q367K |
probably damaging |
Het |
| Gbp2 |
A |
G |
3: 142,335,846 (GRCm39) |
D182G |
probably damaging |
Het |
| Gpr162 |
T |
A |
6: 124,837,919 (GRCm39) |
I244F |
probably damaging |
Het |
| Jakmip1 |
A |
T |
5: 37,282,285 (GRCm39) |
N159I |
probably damaging |
Het |
| Jkampl |
A |
T |
6: 73,446,527 (GRCm39) |
Y7* |
probably null |
Het |
| Kdm4a |
A |
T |
4: 118,010,636 (GRCm39) |
|
probably null |
Het |
| Klf5 |
A |
G |
14: 99,550,671 (GRCm39) |
H416R |
probably damaging |
Het |
| Lrrc63 |
A |
G |
14: 75,322,211 (GRCm39) |
V631A |
probably benign |
Het |
| Man1a |
T |
C |
10: 53,950,819 (GRCm39) |
E101G |
possibly damaging |
Het |
| Msantd4 |
T |
A |
9: 4,384,061 (GRCm39) |
N127K |
possibly damaging |
Het |
| Myo3b |
A |
T |
2: 70,256,409 (GRCm39) |
E1248D |
probably benign |
Het |
| Ncapd2 |
A |
T |
6: 125,153,699 (GRCm39) |
I672N |
probably damaging |
Het |
| Nfic |
T |
C |
10: 81,256,634 (GRCm39) |
|
probably null |
Het |
| Nr1h3 |
A |
G |
2: 91,021,104 (GRCm39) |
S228P |
probably damaging |
Het |
| Or8g32 |
T |
C |
9: 39,305,618 (GRCm39) |
I174T |
probably damaging |
Het |
| Pccb |
A |
T |
9: 100,905,349 (GRCm39) |
|
probably null |
Het |
| Pcmtd1 |
T |
G |
1: 7,217,906 (GRCm39) |
V118G |
probably damaging |
Het |
| Pkhd1l1 |
A |
T |
15: 44,429,664 (GRCm39) |
N3294I |
probably damaging |
Het |
| Plscr4 |
A |
G |
9: 92,364,796 (GRCm39) |
T74A |
probably benign |
Het |
| Rasa2 |
A |
T |
9: 96,442,803 (GRCm39) |
I540N |
probably damaging |
Het |
| Serpina3j |
C |
A |
12: 104,283,556 (GRCm39) |
T218K |
probably benign |
Het |
| Slc16a4 |
A |
G |
3: 107,206,589 (GRCm39) |
D173G |
probably benign |
Het |
| Slc19a2 |
T |
C |
1: 164,084,428 (GRCm39) |
L106P |
possibly damaging |
Het |
| Slc22a19 |
C |
T |
19: 7,660,334 (GRCm39) |
V359M |
probably benign |
Het |
| Slc22a7 |
T |
A |
17: 46,745,563 (GRCm39) |
M323L |
probably benign |
Het |
| Spata21 |
A |
T |
4: 140,824,184 (GRCm39) |
N149I |
possibly damaging |
Het |
| Spink5 |
G |
A |
18: 44,110,792 (GRCm39) |
G121D |
probably damaging |
Het |
| Spink5 |
T |
C |
18: 44,143,109 (GRCm39) |
|
probably null |
Het |
| Ssbp4 |
T |
C |
8: 71,060,815 (GRCm39) |
S6G |
possibly damaging |
Het |
| Sytl2 |
T |
C |
7: 90,045,772 (GRCm39) |
S641P |
probably damaging |
Het |
| Tcf3 |
A |
T |
10: 80,253,384 (GRCm39) |
F215I |
probably damaging |
Het |
| Tmem150c |
C |
A |
5: 100,240,680 (GRCm39) |
D61Y |
probably benign |
Het |
| Tyw3 |
T |
C |
3: 154,285,867 (GRCm39) |
I208V |
probably benign |
Het |
| Vmn1r202 |
T |
C |
13: 22,685,917 (GRCm39) |
T167A |
probably benign |
Het |
| Vmn1r83 |
A |
T |
7: 12,055,763 (GRCm39) |
L98Q |
probably damaging |
Het |
| Vmn2r95 |
T |
C |
17: 18,672,323 (GRCm39) |
Y687H |
probably damaging |
Het |
| Wdr59 |
A |
T |
8: 112,187,445 (GRCm39) |
F783L |
probably benign |
Het |
| Zfhx4 |
A |
G |
3: 5,468,890 (GRCm39) |
Y3016C |
probably damaging |
Het |
| Zfp518b |
T |
C |
5: 38,830,248 (GRCm39) |
T586A |
probably benign |
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 |
|
|
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 |
|
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 |
PCR Primer
(F):5'- TAGGCCCTGCTTCATACCATG -3'
(R):5'- GAGTCCCTAACAGAACCAGTGC -3'
Sequencing Primer
(F):5'- ATACCATGTATTCCCTCAGATGCAC -3'
(R):5'- CCAGTGCACCATAATGAGTTTTC -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation