Incidental Mutation 'R4927:Ttc7'
ID |
380941 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ttc7
|
Ensembl Gene |
ENSMUSG00000036918 |
Gene Name |
tetratricopeptide repeat domain 7 |
Synonyms |
fsn, 1700007L07Rik, 1110035E02Rik, hea |
MMRRC Submission |
042528-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.854)
|
Stock # |
R4927 (G1)
|
Quality Score |
130 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
87590328-87689197 bp(+) (GRCm39) |
Type of Mutation |
splice site (4 bp from exon) |
DNA Base Change (assembly) |
A to G
at 87654133 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
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.4%
|
Validation Efficiency |
97% (76/78) |
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ablim2 |
C |
T |
5: 35,959,766 (GRCm39) |
R73C |
possibly damaging |
Het |
Adamts2 |
T |
A |
11: 50,694,639 (GRCm39) |
L1142* |
probably null |
Het |
Arl13b |
C |
A |
16: 62,622,150 (GRCm39) |
G381V |
probably damaging |
Het |
Ash1l |
G |
T |
3: 88,892,641 (GRCm39) |
V1507F |
probably damaging |
Het |
Babam2 |
T |
A |
5: 31,859,408 (GRCm39) |
F38I |
probably benign |
Het |
Bend4 |
T |
C |
5: 67,557,619 (GRCm39) |
Y399C |
probably damaging |
Het |
Btn1a1 |
A |
T |
13: 23,644,794 (GRCm39) |
|
probably null |
Het |
Cacna1g |
A |
T |
11: 94,319,973 (GRCm39) |
L1401Q |
probably damaging |
Het |
Ccdc192 |
C |
T |
18: 57,863,888 (GRCm39) |
Q213* |
probably null |
Het |
Cep192 |
T |
C |
18: 67,968,195 (GRCm39) |
V893A |
probably benign |
Het |
Cnot10 |
A |
T |
9: 114,447,012 (GRCm39) |
Y355N |
probably damaging |
Het |
Col6a5 |
G |
C |
9: 105,811,163 (GRCm39) |
S785R |
unknown |
Het |
Cpa3 |
A |
G |
3: 20,276,303 (GRCm39) |
L310P |
probably damaging |
Het |
Cux2 |
A |
G |
5: 122,015,152 (GRCm39) |
I247T |
probably benign |
Het |
Dab1 |
A |
G |
4: 104,561,449 (GRCm39) |
T245A |
probably benign |
Het |
Dmrta1 |
A |
T |
4: 89,579,985 (GRCm39) |
D315V |
probably damaging |
Het |
Dnah12 |
T |
A |
14: 26,583,762 (GRCm39) |
L599* |
probably null |
Het |
Dync1h1 |
T |
C |
12: 110,629,289 (GRCm39) |
I4231T |
possibly damaging |
Het |
Fat1 |
T |
C |
8: 45,476,000 (GRCm39) |
V1659A |
probably damaging |
Het |
Flot2 |
G |
A |
11: 77,949,888 (GRCm39) |
V406M |
probably damaging |
Het |
Galnt2 |
A |
G |
8: 125,032,362 (GRCm39) |
D75G |
probably damaging |
Het |
Gcnt3 |
A |
T |
9: 69,942,464 (GRCm39) |
C35S |
probably damaging |
Het |
Gp2 |
A |
G |
7: 119,052,118 (GRCm39) |
F199L |
probably benign |
Het |
Gramd2b |
C |
T |
18: 56,618,523 (GRCm39) |
P244S |
probably damaging |
Het |
Hhipl1 |
T |
C |
12: 108,278,203 (GRCm39) |
L177P |
probably damaging |
Het |
Homez |
T |
C |
14: 55,095,264 (GRCm39) |
E148G |
possibly damaging |
Het |
Kcnab3 |
G |
A |
11: 69,217,572 (GRCm39) |
C22Y |
possibly damaging |
Het |
Kcnh8 |
C |
A |
17: 53,185,009 (GRCm39) |
S430R |
probably damaging |
Het |
Kcnn2 |
T |
C |
18: 45,692,798 (GRCm39) |
C125R |
probably benign |
Het |
Klhl7 |
G |
A |
5: 24,346,185 (GRCm39) |
R277Q |
possibly damaging |
Het |
Krt78 |
A |
G |
15: 101,855,334 (GRCm39) |
S826P |
probably benign |
Het |
Krtap14 |
T |
C |
16: 88,622,919 (GRCm39) |
Y20C |
possibly damaging |
Het |
Lrcol1 |
A |
G |
5: 110,502,163 (GRCm39) |
|
probably null |
Het |
Lrrc10b |
G |
A |
19: 10,434,226 (GRCm39) |
P152S |
probably damaging |
Het |
Lrrn3 |
C |
G |
12: 41,503,124 (GRCm39) |
D398H |
probably damaging |
Het |
Map3k19 |
T |
C |
1: 127,749,932 (GRCm39) |
I1140V |
probably benign |
Het |
Mos |
G |
A |
4: 3,871,093 (GRCm39) |
T241M |
probably damaging |
Het |
Nol8 |
A |
G |
13: 49,807,901 (GRCm39) |
E39G |
possibly damaging |
Het |
Olfm1 |
T |
G |
2: 28,104,798 (GRCm39) |
S212A |
probably benign |
Het |
Or2ak6 |
T |
A |
11: 58,592,633 (GRCm39) |
F35L |
probably damaging |
Het |
Pip4p2 |
G |
T |
4: 14,912,458 (GRCm39) |
R189L |
probably damaging |
Het |
Plec |
G |
T |
15: 76,061,162 (GRCm39) |
T2947K |
probably damaging |
Het |
Pramel27 |
A |
T |
4: 143,578,187 (GRCm39) |
Q149L |
probably damaging |
Het |
Rasgrp3 |
A |
G |
17: 75,823,350 (GRCm39) |
M474V |
probably benign |
Het |
Ryr1 |
T |
C |
7: 28,719,408 (GRCm39) |
Y4333C |
unknown |
Het |
Scrn2 |
G |
C |
11: 96,924,326 (GRCm39) |
|
probably null |
Het |
Slc22a12 |
C |
A |
19: 6,587,791 (GRCm39) |
V388L |
probably benign |
Het |
Slc4a11 |
A |
G |
2: 130,526,866 (GRCm39) |
V754A |
probably damaging |
Het |
Slco2b1 |
A |
G |
7: 99,335,195 (GRCm39) |
F195S |
probably damaging |
Het |
Slfn9 |
A |
C |
11: 82,872,216 (GRCm39) |
M840R |
possibly damaging |
Het |
Speer4b |
T |
C |
5: 27,706,263 (GRCm39) |
N35D |
probably damaging |
Het |
Taf1d |
T |
A |
9: 15,221,250 (GRCm39) |
D185E |
probably damaging |
Het |
Taok2 |
A |
G |
7: 126,475,213 (GRCm39) |
L245P |
probably damaging |
Het |
Tent4a |
A |
T |
13: 69,651,019 (GRCm39) |
|
probably null |
Het |
Ticam2 |
T |
C |
18: 46,693,846 (GRCm39) |
I80M |
probably damaging |
Het |
Tmem268 |
G |
A |
4: 63,502,164 (GRCm39) |
V331I |
probably benign |
Het |
Tsga10 |
T |
C |
1: 37,840,931 (GRCm39) |
E425G |
probably damaging |
Het |
Ttf1 |
C |
T |
2: 28,954,668 (GRCm39) |
H11Y |
possibly damaging |
Het |
Unc13a |
T |
C |
8: 72,107,489 (GRCm39) |
H601R |
probably damaging |
Het |
Vmn2r102 |
A |
T |
17: 19,880,661 (GRCm39) |
M1L |
probably benign |
Het |
Vmn2r120 |
G |
T |
17: 57,816,125 (GRCm39) |
N743K |
probably damaging |
Het |
Wnt6 |
C |
A |
1: 74,823,295 (GRCm39) |
|
probably null |
Het |
Wnt6 |
A |
C |
1: 74,823,296 (GRCm39) |
|
probably null |
Het |
Wnt8a |
T |
A |
18: 34,680,525 (GRCm39) |
C297S |
probably damaging |
Het |
Zfp786 |
T |
C |
6: 47,797,087 (GRCm39) |
Q617R |
probably benign |
Het |
Zfp91 |
A |
G |
19: 12,753,774 (GRCm39) |
|
probably null |
Het |
Zw10 |
T |
A |
9: 48,979,983 (GRCm39) |
F371L |
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 |
|
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 |
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 |
PCR Primer
(F):5'- AGTCTAAGGTCCCTAAACTGGC -3'
(R):5'- AACAGTTCTCCCCTCTGAGC -3'
Sequencing Primer
(F):5'- GTCCCTAAACTGGCGGTCTC -3'
(R):5'- TGAGCCCACAGCCTCTATG -3'
|
Posted On |
2016-04-15 |