Incidental Mutation 'R4833:Ttc7'
| ID |
373022 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttc7
|
| Ensembl Gene |
ENSMUSG00000036918 |
| Gene Name |
tetratricopeptide repeat domain 7 |
| Synonyms |
fsn, 1700007L07Rik, 1110035E02Rik, hea |
| MMRRC Submission |
042449-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.854)
|
| Stock # |
R4833 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
87590328-87689197 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 87641749 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 449
(P449S)
|
| 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: P449S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000040771
Gene: ENSMUSG00000036918
AA Change: P449S
| 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: P449S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000115351
Gene: ENSMUSG00000036918
AA Change: P449S
| 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 |
0.1788 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.8%
|
| Validation Efficiency |
99% (74/75) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810055G02Rik |
C |
A |
19: 3,766,872 (GRCm39) |
T153K |
possibly damaging |
Het |
| Abca5 |
A |
C |
11: 110,170,142 (GRCm39) |
Y1318D |
probably benign |
Het |
| Adam18 |
A |
G |
8: 25,164,117 (GRCm39) |
I22T |
probably benign |
Het |
| Adgrv1 |
T |
A |
13: 81,708,963 (GRCm39) |
H1147L |
possibly damaging |
Het |
| Ankrd2 |
T |
C |
19: 42,032,296 (GRCm39) |
|
probably null |
Het |
| Bdkrb2 |
T |
C |
12: 105,557,917 (GRCm39) |
W53R |
probably benign |
Het |
| Blm |
T |
A |
7: 80,116,574 (GRCm39) |
I1111L |
probably benign |
Het |
| Bltp1 |
A |
G |
3: 37,019,117 (GRCm39) |
I2007V |
probably damaging |
Het |
| Bmp3 |
T |
G |
5: 99,003,066 (GRCm39) |
L32R |
probably damaging |
Het |
| Cdh23 |
T |
G |
10: 60,220,817 (GRCm39) |
E1312A |
probably damaging |
Het |
| Ceacam5 |
C |
T |
7: 17,486,183 (GRCm39) |
T560M |
probably benign |
Het |
| Cimap1a |
T |
C |
7: 140,428,191 (GRCm39) |
M1T |
probably null |
Het |
| Cmtm8 |
C |
A |
9: 114,625,233 (GRCm39) |
R66I |
probably benign |
Het |
| Cnbd1 |
A |
G |
4: 18,862,120 (GRCm39) |
Y357H |
probably damaging |
Het |
| Col4a4 |
A |
T |
1: 82,507,323 (GRCm39) |
V252E |
unknown |
Het |
| Col6a4 |
A |
T |
9: 105,949,178 (GRCm39) |
M819K |
probably benign |
Het |
| Cwf19l2 |
T |
C |
9: 3,430,783 (GRCm39) |
S372P |
probably benign |
Het |
| Daam2 |
A |
T |
17: 49,797,173 (GRCm39) |
I204N |
possibly damaging |
Het |
| Dock6 |
T |
C |
9: 21,755,576 (GRCm39) |
D216G |
probably damaging |
Het |
| Epha5 |
C |
T |
5: 84,253,750 (GRCm39) |
D548N |
possibly damaging |
Het |
| Erich2 |
T |
C |
2: 70,364,636 (GRCm39) |
Y311H |
possibly damaging |
Het |
| Gm3985 |
A |
G |
8: 33,380,505 (GRCm39) |
|
noncoding transcript |
Het |
| Gnb1 |
A |
G |
4: 155,627,524 (GRCm39) |
T102A |
possibly damaging |
Het |
| Hcfc2 |
C |
T |
10: 82,544,980 (GRCm39) |
A204V |
probably null |
Het |
| Hnrnpu |
T |
C |
1: 178,161,459 (GRCm39) |
|
probably benign |
Het |
| Htt |
A |
G |
5: 35,009,569 (GRCm39) |
T1517A |
probably damaging |
Het |
| Klhl6 |
T |
A |
16: 19,775,889 (GRCm39) |
D223V |
probably damaging |
Het |
| Kpna6 |
A |
G |
4: 129,551,572 (GRCm39) |
S71P |
possibly damaging |
Het |
| Lama3 |
A |
G |
18: 12,574,188 (GRCm39) |
D590G |
probably benign |
Het |
| Lipt1 |
T |
G |
1: 37,914,610 (GRCm39) |
L222R |
probably damaging |
Het |
| Lrrc41 |
A |
G |
4: 115,950,374 (GRCm39) |
|
probably benign |
Het |
| Lrrc59 |
T |
C |
11: 94,525,498 (GRCm39) |
V98A |
probably benign |
Het |
| Mast4 |
A |
G |
13: 102,910,692 (GRCm39) |
|
probably null |
Het |
| Mdc1 |
C |
T |
17: 36,161,286 (GRCm39) |
S733F |
probably benign |
Het |
| Mknk1 |
C |
T |
4: 115,735,383 (GRCm39) |
|
probably benign |
Het |
| Mtmr7 |
A |
G |
8: 41,043,505 (GRCm39) |
F141S |
probably damaging |
Het |
| Myo15b |
A |
G |
11: 115,778,428 (GRCm39) |
D1G |
possibly damaging |
Het |
| Or7c70 |
T |
G |
10: 78,683,409 (GRCm39) |
L113F |
probably damaging |
Het |
| Phkb |
T |
A |
8: 86,628,540 (GRCm39) |
V183E |
probably damaging |
Het |
| Pola2 |
T |
C |
19: 6,003,892 (GRCm39) |
Y161C |
probably damaging |
Het |
| Psen1 |
G |
A |
12: 83,778,552 (GRCm39) |
V412I |
probably benign |
Het |
| Psmc4 |
C |
A |
7: 27,746,937 (GRCm39) |
G77V |
probably damaging |
Het |
| Psmd3 |
A |
G |
11: 98,578,586 (GRCm39) |
Y207C |
probably damaging |
Het |
| Pxk |
T |
A |
14: 8,130,653 (GRCm38) |
M84K |
probably damaging |
Het |
| Rab44 |
A |
C |
17: 29,355,311 (GRCm39) |
Q19P |
probably damaging |
Het |
| Rbks |
A |
G |
5: 31,781,859 (GRCm39) |
Y314H |
probably benign |
Het |
| Rftn2 |
T |
C |
1: 55,253,399 (GRCm39) |
D68G |
possibly damaging |
Het |
| Rims2 |
T |
A |
15: 39,399,310 (GRCm39) |
S838R |
probably damaging |
Het |
| Sdc4 |
A |
T |
2: 164,273,138 (GRCm39) |
D57E |
probably damaging |
Het |
| Slfn14 |
A |
G |
11: 83,169,982 (GRCm39) |
L554P |
probably damaging |
Het |
| Spink2 |
G |
T |
5: 77,353,239 (GRCm39) |
D83E |
possibly damaging |
Het |
| Srsf4 |
C |
T |
4: 131,627,413 (GRCm39) |
|
probably benign |
Het |
| Taar8b |
A |
T |
10: 23,968,030 (GRCm39) |
S55T |
possibly damaging |
Het |
| Tbca |
A |
G |
13: 94,968,918 (GRCm39) |
E35G |
probably benign |
Het |
| Tmc5 |
C |
A |
7: 118,228,052 (GRCm39) |
H307Q |
probably benign |
Het |
| Tmem169 |
A |
G |
1: 72,337,311 (GRCm39) |
D82G |
probably benign |
Het |
| Tmem72 |
T |
C |
6: 116,675,319 (GRCm39) |
T58A |
probably benign |
Het |
| Ttf2 |
T |
C |
3: 100,868,722 (GRCm39) |
E449G |
probably benign |
Het |
| Ubr4 |
C |
A |
4: 139,129,857 (GRCm39) |
T659K |
probably damaging |
Het |
| Wdr1 |
A |
G |
5: 38,704,372 (GRCm39) |
Y98H |
probably damaging |
Het |
| Wfikkn2 |
A |
G |
11: 94,129,878 (GRCm39) |
Y88H |
probably benign |
Het |
| Zfp384 |
A |
T |
6: 125,007,811 (GRCm39) |
H247L |
probably damaging |
Het |
| Zfp526 |
C |
T |
7: 24,925,295 (GRCm39) |
A518V |
probably damaging |
Het |
| Zfp788 |
T |
A |
7: 41,296,992 (GRCm39) |
H47Q |
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 |
|
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'- AGGACTCATTTGCAGTGAACATC -3'
(R):5'- CTCCTGTCCCTACACAAAGG -3'
Sequencing Primer
(F):5'- TGAACATCACTGGGCCTCC -3'
(R):5'- ACAAAGGTGGCACCCTGTCTTC -3'
|
| Posted On |
2016-03-01 |
Incidental Mutation