Incidental Mutation 'R4671:Ttc7'
| ID |
348472 |
| 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 # |
R4671 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
87590328-87689197 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 87654048 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 575
(L575Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115351
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041110]
[ENSMUST00000125875]
[ENSMUST00000144204]
[ENSMUST00000154255]
|
| AlphaFold |
Q8BGB2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041110
AA Change: L575Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000040771
Gene: ENSMUSG00000036918
AA Change: L575Q
| 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: L575Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115351
Gene: ENSMUSG00000036918
AA Change: L575Q
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
T |
C |
19: 43,789,157 (GRCm39) |
S271P |
probably benign |
Het |
| Acod1 |
T |
G |
14: 103,284,508 (GRCm39) |
M2R |
probably benign |
Het |
| Adamts20 |
T |
C |
15: 94,301,206 (GRCm39) |
E106G |
possibly damaging |
Het |
| Adgra3 |
G |
A |
5: 50,136,710 (GRCm39) |
T661M |
probably damaging |
Het |
| Akap13 |
T |
A |
7: 75,229,312 (GRCm39) |
C161* |
probably null |
Het |
| Akr1c12 |
A |
C |
13: 4,323,816 (GRCm39) |
S162A |
possibly damaging |
Het |
| Anks1 |
C |
A |
17: 28,270,552 (GRCm39) |
H805N |
probably benign |
Het |
| Arhgap22 |
T |
C |
14: 33,084,500 (GRCm39) |
C260R |
probably damaging |
Het |
| Banf1 |
T |
C |
19: 5,415,872 (GRCm39) |
R33G |
probably benign |
Het |
| Bcas1 |
T |
C |
2: 170,226,245 (GRCm39) |
K310R |
probably damaging |
Het |
| Cacna1c |
G |
T |
6: 118,629,019 (GRCm39) |
H1240N |
probably damaging |
Het |
| Cartpt |
C |
T |
13: 100,036,588 (GRCm39) |
|
probably null |
Het |
| Ccdc127 |
T |
A |
13: 74,505,164 (GRCm39) |
Y237* |
probably null |
Het |
| Ccnb1ip1 |
A |
T |
14: 51,029,734 (GRCm39) |
Y109* |
probably null |
Het |
| Cenpj |
A |
T |
14: 56,790,840 (GRCm39) |
V403E |
possibly damaging |
Het |
| Cps1 |
A |
G |
1: 67,235,719 (GRCm39) |
Y951C |
probably damaging |
Het |
| Dcakd |
T |
C |
11: 102,890,634 (GRCm39) |
E51G |
possibly damaging |
Het |
| Dennd4a |
A |
T |
9: 64,801,689 (GRCm39) |
N944I |
probably benign |
Het |
| Dus3l |
C |
T |
17: 57,075,566 (GRCm39) |
R430C |
probably benign |
Het |
| Dync2h1 |
A |
G |
9: 7,169,640 (GRCm39) |
L279P |
possibly damaging |
Het |
| Dzip3 |
G |
A |
16: 48,799,953 (GRCm39) |
Q112* |
probably null |
Het |
| Eif1ad |
T |
A |
19: 5,418,219 (GRCm39) |
M1K |
probably null |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fancg |
T |
C |
4: 43,005,272 (GRCm39) |
E366G |
probably benign |
Het |
| Gin1 |
C |
T |
1: 97,712,565 (GRCm39) |
P154S |
probably damaging |
Het |
| Gm11938 |
A |
T |
11: 99,493,832 (GRCm39) |
C88S |
possibly damaging |
Het |
| Gpr183 |
T |
C |
14: 122,192,149 (GRCm39) |
D124G |
probably damaging |
Het |
| Gucy2g |
T |
A |
19: 55,226,500 (GRCm39) |
I139F |
probably damaging |
Het |
| Iqub |
A |
T |
6: 24,479,183 (GRCm39) |
M453K |
probably benign |
Het |
| Jcad |
A |
G |
18: 4,674,175 (GRCm39) |
T646A |
probably benign |
Het |
| Kif23 |
A |
T |
9: 61,852,641 (GRCm39) |
D24E |
probably benign |
Het |
| Kmt2c |
T |
C |
5: 25,571,175 (GRCm39) |
N845S |
probably damaging |
Het |
| Lhx5 |
G |
A |
5: 120,578,032 (GRCm39) |
S284N |
probably benign |
Het |
| Lipf |
T |
G |
19: 33,954,076 (GRCm39) |
V389G |
possibly damaging |
Het |
| Lrrc7 |
C |
T |
3: 157,908,132 (GRCm39) |
|
probably null |
Het |
| Magi1 |
A |
G |
6: 93,657,768 (GRCm39) |
|
probably null |
Het |
| Mast2 |
A |
G |
4: 116,165,847 (GRCm39) |
S1287P |
probably damaging |
Het |
| Mepce |
C |
T |
5: 137,784,905 (GRCm39) |
|
probably benign |
Het |
| Mkrn1 |
A |
G |
6: 39,382,691 (GRCm39) |
V173A |
probably damaging |
Het |
| Myo1c |
C |
T |
11: 75,560,856 (GRCm39) |
R770* |
probably null |
Het |
| Naip6 |
A |
G |
13: 100,431,239 (GRCm39) |
|
probably null |
Het |
| Nsmce3 |
A |
T |
7: 64,522,530 (GRCm39) |
L46Q |
probably benign |
Het |
| Or1n2 |
G |
A |
2: 36,797,405 (GRCm39) |
C149Y |
probably benign |
Het |
| Or2j6 |
T |
G |
7: 139,980,218 (GRCm39) |
Y247S |
probably damaging |
Het |
| Or4k44 |
A |
T |
2: 111,368,280 (GRCm39) |
M118K |
probably damaging |
Het |
| Or51e2 |
A |
G |
7: 102,391,808 (GRCm39) |
V134A |
probably damaging |
Het |
| Or56a3b |
T |
C |
7: 104,771,513 (GRCm39) |
L283P |
probably damaging |
Het |
| Parp14 |
A |
G |
16: 35,678,691 (GRCm39) |
F426L |
probably benign |
Het |
| Pcf11 |
A |
T |
7: 92,306,737 (GRCm39) |
S1144T |
possibly damaging |
Het |
| Prpf3 |
T |
A |
3: 95,758,976 (GRCm39) |
T59S |
possibly damaging |
Het |
| Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
| Ptk7 |
A |
G |
17: 46,885,392 (GRCm39) |
V678A |
probably benign |
Het |
| Rb1 |
A |
G |
14: 73,511,116 (GRCm39) |
L331S |
probably damaging |
Het |
| Relch |
A |
G |
1: 105,646,584 (GRCm39) |
I637V |
probably benign |
Het |
| Sell |
A |
G |
1: 163,893,042 (GRCm39) |
Y86C |
probably damaging |
Het |
| Serpina1e |
G |
A |
12: 103,914,341 (GRCm39) |
R328W |
probably damaging |
Het |
| Sertad3 |
T |
G |
7: 27,176,091 (GRCm39) |
L175R |
possibly damaging |
Het |
| Stard9 |
G |
T |
2: 120,529,121 (GRCm39) |
G1793W |
probably damaging |
Het |
| Stra6 |
T |
C |
9: 58,056,517 (GRCm39) |
I383T |
probably benign |
Het |
| Tcf7l1 |
A |
G |
6: 72,626,161 (GRCm39) |
L154P |
probably damaging |
Het |
| Tent5c |
C |
A |
3: 100,380,515 (GRCm39) |
L80F |
probably benign |
Het |
| Tonsl |
A |
T |
15: 76,507,610 (GRCm39) |
D55E |
probably benign |
Het |
| Ttc21b |
A |
G |
2: 66,057,257 (GRCm39) |
S572P |
possibly damaging |
Het |
| Ubl4b |
C |
T |
3: 107,462,194 (GRCm39) |
S22N |
probably damaging |
Het |
| Ubr4 |
T |
C |
4: 139,163,502 (GRCm39) |
V2634A |
possibly damaging |
Het |
| Zbed6 |
A |
G |
1: 133,584,778 (GRCm39) |
V853A |
probably benign |
Het |
| Zfp46 |
A |
C |
4: 136,017,484 (GRCm39) |
D106A |
probably damaging |
Het |
| Zfp951 |
A |
C |
5: 104,962,567 (GRCm39) |
I333S |
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 |
|
|
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'- CAAGATGCTTGCTTCTGGTG -3'
(R):5'- TGCTCTGCTCACAGTGTCTATG -3'
Sequencing Primer
(F):5'- TGTCCCAGGCTGACTTGAG -3'
(R):5'- CTCACAGTGTCTATGCAGTGGAC -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation