Incidental Mutation 'R0412:Ttc7'
| ID |
36743 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttc7
|
| Ensembl Gene |
ENSMUSG00000036918 |
| Gene Name |
tetratricopeptide repeat domain 7 |
| Synonyms |
fsn, 1700007L07Rik, 1110035E02Rik, hea |
| MMRRC Submission |
038614-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.871)
|
| Stock # |
R0412 (G1)
|
| Quality Score |
218 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
87590328-87689197 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 87637472 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 409
(K409R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115351
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041110]
[ENSMUST00000125875]
[ENSMUST00000144204]
[ENSMUST00000154255]
|
| AlphaFold |
Q8BGB2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041110
AA Change: K409R
PolyPhen 2
Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000040771
Gene: ENSMUSG00000036918
AA Change: K409R
| 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 benign
Transcript: ENSMUST00000125875
AA Change: K409R
PolyPhen 2
Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000115351
Gene: ENSMUSG00000036918
AA Change: K409R
| 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: ENSMUST00000148554
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153014
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154255
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161043
|
| Meta Mutation Damage Score |
0.0758 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 90.2%
|
| Validation Efficiency |
94% (67/71) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap1 |
C |
A |
7: 101,039,429 (GRCm39) |
A563D |
probably damaging |
Het |
| Arhgap28 |
G |
A |
17: 68,203,253 (GRCm39) |
L67F |
probably damaging |
Het |
| Atp7b |
G |
T |
8: 22,485,675 (GRCm39) |
|
probably null |
Het |
| Auts2 |
A |
G |
5: 131,475,669 (GRCm39) |
F485L |
probably benign |
Het |
| Ccdc68 |
A |
G |
18: 70,093,510 (GRCm39) |
E239G |
probably damaging |
Het |
| Cdc42bpg |
T |
G |
19: 6,363,487 (GRCm39) |
L449R |
probably damaging |
Het |
| Colgalt2 |
G |
T |
1: 152,384,312 (GRCm39) |
A551S |
possibly damaging |
Het |
| Ddx41 |
G |
T |
13: 55,678,421 (GRCm39) |
S630Y |
probably damaging |
Het |
| Dntt |
T |
C |
19: 41,031,372 (GRCm39) |
L274P |
probably damaging |
Het |
| Fhl4 |
G |
T |
10: 84,934,680 (GRCm39) |
H34N |
possibly damaging |
Het |
| Filip1 |
A |
T |
9: 79,727,571 (GRCm39) |
N349K |
possibly damaging |
Het |
| Gm9894 |
C |
T |
13: 67,913,145 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr179 |
A |
G |
11: 97,229,633 (GRCm39) |
S841P |
probably damaging |
Het |
| Gpr35 |
G |
T |
1: 92,910,506 (GRCm39) |
V73L |
probably benign |
Het |
| Grik5 |
A |
G |
7: 24,713,099 (GRCm39) |
V809A |
possibly damaging |
Het |
| H2-T13 |
T |
A |
17: 36,392,413 (GRCm39) |
|
probably benign |
Het |
| Heatr5b |
T |
C |
17: 79,128,283 (GRCm39) |
T451A |
probably benign |
Het |
| Hmcn2 |
G |
A |
2: 31,278,259 (GRCm39) |
V1654M |
probably damaging |
Het |
| Htra3 |
G |
T |
5: 35,828,409 (GRCm39) |
A157E |
probably damaging |
Het |
| Igf2r |
A |
T |
17: 12,902,835 (GRCm39) |
V2405D |
probably damaging |
Het |
| Irs3 |
C |
A |
5: 137,642,139 (GRCm39) |
R433L |
probably benign |
Het |
| Kcmf1 |
G |
A |
6: 72,825,224 (GRCm39) |
Q239* |
probably null |
Het |
| Kcnk9 |
A |
G |
15: 72,384,905 (GRCm39) |
|
probably benign |
Het |
| Kif28 |
A |
G |
1: 179,530,091 (GRCm39) |
V622A |
probably benign |
Het |
| Klrb1f |
A |
T |
6: 129,031,294 (GRCm39) |
I164F |
probably benign |
Het |
| Lama2 |
A |
G |
10: 27,066,621 (GRCm39) |
S1087P |
possibly damaging |
Het |
| Mchr1 |
A |
T |
15: 81,119,948 (GRCm39) |
|
probably benign |
Het |
| Mcidas |
A |
G |
13: 113,135,677 (GRCm39) |
T367A |
probably damaging |
Het |
| Mphosph8 |
A |
C |
14: 56,911,870 (GRCm39) |
K298Q |
probably damaging |
Het |
| Mroh2a |
G |
T |
1: 88,162,938 (GRCm39) |
Q360H |
probably benign |
Het |
| Mst1 |
A |
C |
9: 107,960,793 (GRCm39) |
D461A |
probably benign |
Het |
| Nckap1l |
A |
T |
15: 103,373,079 (GRCm39) |
S311C |
probably benign |
Het |
| Or2y1 |
T |
A |
11: 49,385,594 (GRCm39) |
V78E |
probably damaging |
Het |
| Or4c125 |
T |
A |
2: 89,170,422 (GRCm39) |
M75L |
probably benign |
Het |
| Or5m9b |
C |
T |
2: 85,905,435 (GRCm39) |
A117V |
probably benign |
Het |
| Or8c11 |
A |
C |
9: 38,290,090 (GRCm39) |
K298N |
probably damaging |
Het |
| Pde3a |
T |
G |
6: 141,444,410 (GRCm39) |
C1073G |
probably damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,188,012 (GRCm39) |
D3432G |
probably damaging |
Het |
| Ppargc1b |
G |
T |
18: 61,448,932 (GRCm39) |
P130Q |
probably damaging |
Het |
| Ppp6r1 |
A |
G |
7: 4,645,213 (GRCm39) |
I228T |
probably damaging |
Het |
| Pram1 |
A |
G |
17: 33,860,480 (GRCm39) |
N349S |
probably benign |
Het |
| Ranbp6 |
C |
T |
19: 29,789,483 (GRCm39) |
V290I |
possibly damaging |
Het |
| Rcan3 |
A |
T |
4: 135,143,914 (GRCm39) |
|
probably null |
Het |
| Scn8a |
G |
C |
15: 100,906,187 (GRCm39) |
|
probably benign |
Het |
| Slc12a5 |
C |
T |
2: 164,835,982 (GRCm39) |
T900M |
probably benign |
Het |
| Srsf10 |
A |
G |
4: 135,585,714 (GRCm39) |
Y55C |
probably damaging |
Het |
| Syt7 |
G |
T |
19: 10,421,444 (GRCm39) |
E450* |
probably null |
Het |
| Tbrg4 |
T |
C |
11: 6,573,832 (GRCm39) |
K130R |
probably benign |
Het |
| Tgm7 |
C |
A |
2: 120,931,546 (GRCm39) |
V206F |
probably damaging |
Het |
| Tmem131l |
T |
C |
3: 83,938,955 (GRCm39) |
D67G |
probably damaging |
Het |
| Unc80 |
A |
T |
1: 66,590,096 (GRCm39) |
|
probably benign |
Het |
| Vmn1r171 |
C |
T |
7: 23,332,080 (GRCm39) |
L102F |
possibly damaging |
Het |
| Vmn2r59 |
A |
C |
7: 41,695,916 (GRCm39) |
|
probably benign |
Het |
| Vsig2 |
A |
G |
9: 37,453,986 (GRCm39) |
R191G |
probably damaging |
Het |
| Wdr86 |
T |
A |
5: 24,923,232 (GRCm39) |
Q153H |
probably benign |
Het |
| Wdr87-ps |
C |
G |
7: 29,229,995 (GRCm39) |
|
noncoding transcript |
Het |
| Xxylt1 |
T |
A |
16: 30,826,616 (GRCm39) |
N233I |
probably damaging |
Het |
| Zfp160 |
A |
T |
17: 21,247,139 (GRCm39) |
E563V |
probably damaging |
Het |
| Zfp345 |
T |
A |
2: 150,315,323 (GRCm39) |
E71D |
probably benign |
Het |
| Zfp541 |
A |
G |
7: 15,816,099 (GRCm39) |
D862G |
possibly damaging |
Het |
| Zfp639 |
A |
C |
3: 32,571,259 (GRCm39) |
Q47P |
possibly 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATTGTCCCTGTATTCCCAGGCTG -3'
(R):5'- TATCATCGACCCTCTTAGGCACGC -3'
Sequencing Primer
(F):5'- GGTCATGGTTAGCCTGTGAG -3'
(R):5'- TCAGGGAGTCATCCCAATACTG -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation