Incidental Mutation 'R1537:Ttc7'
ID |
169630 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ttc7
|
Ensembl Gene |
ENSMUSG00000036918 |
Gene Name |
tetratricopeptide repeat domain 7 |
Synonyms |
fsn, 1700007L07Rik, 1110035E02Rik, hea |
MMRRC Submission |
039576-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.854)
|
Stock # |
R1537 (G1)
|
Quality Score |
112 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
87590328-87689197 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 87629891 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 291
(V291A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115351
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041110]
[ENSMUST00000125875]
[ENSMUST00000144204]
[ENSMUST00000154255]
|
AlphaFold |
Q8BGB2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041110
AA Change: V291A
PolyPhen 2
Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000040771 Gene: ENSMUSG00000036918 AA Change: V291A
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 |
possibly damaging
Transcript: ENSMUST00000125875
AA Change: V291A
PolyPhen 2
Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000115351 Gene: ENSMUSG00000036918 AA Change: V291A
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: ENSMUST00000153014
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000154255
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.7%
|
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700003H04Rik |
T |
A |
3: 124,372,124 (GRCm39) |
H86L |
possibly damaging |
Het |
4930519G04Rik |
A |
G |
5: 115,008,278 (GRCm39) |
T31A |
probably benign |
Het |
Ahcyl1 |
A |
G |
3: 107,603,505 (GRCm39) |
F30S |
probably benign |
Het |
Alox5ap |
G |
A |
5: 149,201,993 (GRCm39) |
|
probably null |
Het |
Amtn |
A |
G |
5: 88,526,729 (GRCm39) |
S53G |
probably null |
Het |
Arap3 |
A |
T |
18: 38,122,737 (GRCm39) |
|
probably null |
Het |
Ash1l |
T |
A |
3: 88,979,783 (GRCm39) |
V2769E |
probably damaging |
Het |
Atp8b1 |
C |
T |
18: 64,678,335 (GRCm39) |
V854M |
probably damaging |
Het |
Bhlha9 |
C |
T |
11: 76,563,457 (GRCm39) |
S28L |
probably benign |
Het |
Bltp2 |
T |
A |
11: 78,180,169 (GRCm39) |
Y2150N |
probably damaging |
Het |
Bmpr2 |
A |
G |
1: 59,907,285 (GRCm39) |
T793A |
probably benign |
Het |
Ccdc80 |
G |
A |
16: 44,916,299 (GRCm39) |
A352T |
probably benign |
Het |
Chst2 |
A |
T |
9: 95,288,194 (GRCm39) |
F51I |
probably benign |
Het |
Col14a1 |
A |
G |
15: 55,244,163 (GRCm39) |
N412S |
unknown |
Het |
Dclk2 |
T |
C |
3: 86,713,491 (GRCm39) |
I451V |
probably damaging |
Het |
Ddb2 |
A |
G |
2: 91,065,234 (GRCm39) |
S64P |
probably benign |
Het |
Diaph1 |
A |
G |
18: 38,029,146 (GRCm39) |
|
probably null |
Het |
Dnai3 |
T |
C |
3: 145,748,504 (GRCm39) |
E870G |
probably damaging |
Het |
Dusp4 |
G |
T |
8: 35,285,570 (GRCm39) |
R277L |
probably benign |
Het |
Fmnl2 |
A |
G |
2: 52,995,549 (GRCm39) |
E424G |
probably damaging |
Het |
Garem1 |
A |
T |
18: 21,301,931 (GRCm39) |
|
probably null |
Het |
Gnpat |
A |
G |
8: 125,597,555 (GRCm39) |
E39G |
probably damaging |
Het |
Golgb1 |
A |
T |
16: 36,719,150 (GRCm39) |
Q352L |
possibly damaging |
Het |
Hdlbp |
T |
C |
1: 93,345,096 (GRCm39) |
D803G |
probably benign |
Het |
Hps1 |
A |
G |
19: 42,748,143 (GRCm39) |
|
probably null |
Het |
Ilvbl |
G |
A |
10: 78,415,565 (GRCm39) |
R327H |
probably benign |
Het |
Itpr3 |
A |
G |
17: 27,333,121 (GRCm39) |
D1911G |
possibly damaging |
Het |
Lmo7 |
T |
A |
14: 102,166,700 (GRCm39) |
|
probably benign |
Het |
Mcm10 |
G |
A |
2: 5,003,591 (GRCm39) |
T542I |
possibly damaging |
Het |
Med1 |
A |
G |
11: 98,051,772 (GRCm39) |
V497A |
probably damaging |
Het |
Mn1 |
G |
A |
5: 111,602,646 (GRCm39) |
A1295T |
probably damaging |
Het |
Myh7b |
A |
C |
2: 155,473,707 (GRCm39) |
D1580A |
probably damaging |
Het |
Naa20 |
A |
G |
2: 145,754,438 (GRCm39) |
I101V |
probably benign |
Het |
Nav3 |
T |
C |
10: 109,702,846 (GRCm39) |
Y229C |
probably damaging |
Het |
Obscn |
T |
C |
11: 58,891,575 (GRCm39) |
R6986G |
unknown |
Het |
Or51h7 |
G |
A |
7: 102,591,547 (GRCm39) |
T79I |
probably damaging |
Het |
Or8b4 |
A |
G |
9: 37,830,570 (GRCm39) |
I211V |
probably benign |
Het |
P2rx3 |
A |
G |
2: 84,853,825 (GRCm39) |
|
probably null |
Het |
Pcdhac2 |
G |
A |
18: 37,279,539 (GRCm39) |
G840R |
possibly damaging |
Het |
Pclo |
A |
G |
5: 14,762,489 (GRCm39) |
N3654S |
unknown |
Het |
Pcnx2 |
T |
A |
8: 126,604,188 (GRCm39) |
E689D |
possibly damaging |
Het |
Pds5a |
A |
G |
5: 65,804,464 (GRCm39) |
S532P |
probably benign |
Het |
Phf1 |
G |
A |
17: 27,154,372 (GRCm39) |
|
probably null |
Het |
Pkp4 |
G |
A |
2: 59,045,147 (GRCm39) |
V41M |
probably damaging |
Het |
Prlr |
T |
G |
15: 10,328,364 (GRCm39) |
|
probably null |
Het |
Prr12 |
G |
T |
7: 44,678,366 (GRCm39) |
A1954D |
unknown |
Het |
Prtg |
A |
G |
9: 72,717,039 (GRCm39) |
T127A |
probably benign |
Het |
Ptprh |
A |
G |
7: 4,552,698 (GRCm39) |
L884P |
probably damaging |
Het |
Rnf170 |
T |
A |
8: 26,629,076 (GRCm39) |
D183E |
probably benign |
Het |
Rrp12 |
A |
T |
19: 41,875,242 (GRCm39) |
H339Q |
probably damaging |
Het |
Rubcnl |
T |
G |
14: 75,278,267 (GRCm39) |
S350R |
possibly damaging |
Het |
Sgo2b |
T |
A |
8: 64,379,536 (GRCm39) |
T1099S |
possibly damaging |
Het |
Ska2 |
T |
C |
11: 87,006,945 (GRCm39) |
S17P |
probably damaging |
Het |
Slc38a2 |
A |
G |
15: 96,591,034 (GRCm39) |
I243T |
possibly damaging |
Het |
Sptan1 |
T |
A |
2: 29,916,034 (GRCm39) |
D2007E |
possibly damaging |
Het |
Taar5 |
T |
A |
10: 23,846,620 (GRCm39) |
L6H |
probably benign |
Het |
Tbata |
G |
T |
10: 61,019,270 (GRCm39) |
|
probably null |
Het |
Tent2 |
C |
T |
13: 93,312,076 (GRCm39) |
G208D |
probably damaging |
Het |
Tmem107 |
T |
C |
11: 68,963,284 (GRCm39) |
S98P |
probably damaging |
Het |
Tpst2 |
A |
G |
5: 112,456,286 (GRCm39) |
D275G |
possibly damaging |
Het |
Ttc28 |
G |
T |
5: 111,433,184 (GRCm39) |
G2073W |
probably damaging |
Het |
Vps13b |
T |
A |
15: 35,792,327 (GRCm39) |
N2198K |
possibly damaging |
Het |
Wdr37 |
A |
T |
13: 8,887,039 (GRCm39) |
D249E |
probably benign |
Het |
Xirp2 |
G |
T |
2: 67,340,357 (GRCm39) |
C866F |
probably damaging |
Het |
Zfp990 |
A |
G |
4: 145,263,566 (GRCm39) |
E188G |
possibly damaging |
Het |
Zkscan2 |
A |
G |
7: 123,099,064 (GRCm39) |
S43P |
possibly damaging |
Het |
Zscan5b |
A |
G |
7: 6,236,850 (GRCm39) |
R200G |
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 |
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'- CCGAGCAGTGAGGGACTTAGAATTG -3'
(R):5'- TGTGTCAGGAACCTCCAAATGTGTG -3'
Sequencing Primer
(F):5'- ACTTAGAATTGAAGTTGTGGGGC -3'
(R):5'- GAACCTCCAAATGTGTGGCTTC -3'
|
Posted On |
2014-04-13 |