Incidental Mutation 'R2312:Ttc14'
ID |
247324 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ttc14
|
Ensembl Gene |
ENSMUSG00000027677 |
Gene Name |
tetratricopeptide repeat domain 14 |
Synonyms |
4933402I15Rik, 4931403I22Rik, cI-44, 4930434D01Rik, 2700016E08Rik |
MMRRC Submission |
040311-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.385)
|
Stock # |
R2312 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
33853981-33869009 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 33861984 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143073
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029222]
[ENSMUST00000099153]
[ENSMUST00000108210]
[ENSMUST00000108210]
[ENSMUST00000117915]
[ENSMUST00000196139]
[ENSMUST00000196369]
[ENSMUST00000198529]
[ENSMUST00000199222]
[ENSMUST00000200271]
[ENSMUST00000196975]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029222
|
SMART Domains |
Protein: ENSMUSP00000029222 Gene: ENSMUSG00000027676
Domain | Start | End | E-Value | Type |
coiled coil region
|
16 |
67 |
N/A |
INTRINSIC |
coiled coil region
|
164 |
198 |
N/A |
INTRINSIC |
coiled coil region
|
232 |
339 |
N/A |
INTRINSIC |
low complexity region
|
381 |
393 |
N/A |
INTRINSIC |
internal_repeat_1
|
569 |
603 |
1.19e-5 |
PROSPERO |
internal_repeat_1
|
598 |
635 |
1.19e-5 |
PROSPERO |
coiled coil region
|
664 |
704 |
N/A |
INTRINSIC |
coiled coil region
|
726 |
766 |
N/A |
INTRINSIC |
low complexity region
|
873 |
889 |
N/A |
INTRINSIC |
low complexity region
|
915 |
928 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000099153
|
SMART Domains |
Protein: ENSMUSP00000096757 Gene: ENSMUSG00000027677
Domain | Start | End | E-Value | Type |
low complexity region
|
38 |
56 |
N/A |
INTRINSIC |
S1
|
123 |
207 |
7.28e-2 |
SMART |
TPR
|
306 |
339 |
6.19e-1 |
SMART |
TPR
|
340 |
373 |
2.11e-3 |
SMART |
TPR
|
381 |
414 |
1.88e0 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000108210
|
SMART Domains |
Protein: ENSMUSP00000103845 Gene: ENSMUSG00000027677
Domain | Start | End | E-Value | Type |
low complexity region
|
38 |
56 |
N/A |
INTRINSIC |
S1
|
123 |
207 |
7.28e-2 |
SMART |
TPR
|
306 |
339 |
6.19e-1 |
SMART |
TPR
|
340 |
373 |
2.11e-3 |
SMART |
TPR
|
381 |
414 |
1.88e0 |
SMART |
coiled coil region
|
415 |
476 |
N/A |
INTRINSIC |
low complexity region
|
617 |
630 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000108210
|
SMART Domains |
Protein: ENSMUSP00000103845 Gene: ENSMUSG00000027677
Domain | Start | End | E-Value | Type |
low complexity region
|
38 |
56 |
N/A |
INTRINSIC |
S1
|
123 |
207 |
7.28e-2 |
SMART |
TPR
|
306 |
339 |
6.19e-1 |
SMART |
TPR
|
340 |
373 |
2.11e-3 |
SMART |
TPR
|
381 |
414 |
1.88e0 |
SMART |
coiled coil region
|
415 |
476 |
N/A |
INTRINSIC |
low complexity region
|
617 |
630 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000117915
|
SMART Domains |
Protein: ENSMUSP00000112450 Gene: ENSMUSG00000027677
Domain | Start | End | E-Value | Type |
low complexity region
|
38 |
56 |
N/A |
INTRINSIC |
S1
|
123 |
207 |
7.28e-2 |
SMART |
TPR
|
254 |
287 |
6.19e-1 |
SMART |
TPR
|
288 |
321 |
2.11e-3 |
SMART |
TPR
|
329 |
362 |
1.88e0 |
SMART |
coiled coil region
|
363 |
424 |
N/A |
INTRINSIC |
low complexity region
|
565 |
578 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000196139
|
SMART Domains |
Protein: ENSMUSP00000143173 Gene: ENSMUSG00000027677
Domain | Start | End | E-Value | Type |
low complexity region
|
38 |
54 |
N/A |
INTRINSIC |
SCOP:d1go3e_
|
144 |
217 |
3e-5 |
SMART |
Blast:S1
|
154 |
217 |
2e-39 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000196369
|
SMART Domains |
Protein: ENSMUSP00000142863 Gene: ENSMUSG00000027677
Domain | Start | End | E-Value | Type |
S1
|
21 |
105 |
7.28e-2 |
SMART |
TPR
|
204 |
237 |
6.19e-1 |
SMART |
TPR
|
238 |
271 |
2.11e-3 |
SMART |
TPR
|
279 |
312 |
1.88e0 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000198529
|
SMART Domains |
Protein: ENSMUSP00000143073 Gene: ENSMUSG00000027677
Domain | Start | End | E-Value | Type |
low complexity region
|
38 |
56 |
N/A |
INTRINSIC |
S1
|
123 |
207 |
7.28e-2 |
SMART |
Pfam:TPR_11
|
304 |
371 |
2.1e-12 |
PFAM |
Pfam:TPR_2
|
306 |
339 |
1.9e-4 |
PFAM |
Pfam:TPR_1
|
308 |
339 |
1.3e-4 |
PFAM |
Pfam:TPR_1
|
340 |
373 |
2.9e-5 |
PFAM |
Pfam:TPR_2
|
340 |
373 |
6.8e-4 |
PFAM |
low complexity region
|
395 |
408 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197592
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000199222
|
SMART Domains |
Protein: ENSMUSP00000142935 Gene: ENSMUSG00000027677
Domain | Start | End | E-Value | Type |
low complexity region
|
38 |
56 |
N/A |
INTRINSIC |
S1
|
123 |
207 |
7.28e-2 |
SMART |
TPR
|
306 |
339 |
6.19e-1 |
SMART |
TPR
|
340 |
373 |
2.11e-3 |
SMART |
TPR
|
381 |
414 |
1.88e0 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000200271
|
SMART Domains |
Protein: ENSMUSP00000143738 Gene: ENSMUSG00000027677
Domain | Start | End | E-Value | Type |
S1
|
120 |
204 |
7.28e-2 |
SMART |
TPR
|
303 |
336 |
6.19e-1 |
SMART |
TPR
|
337 |
370 |
2.11e-3 |
SMART |
TPR
|
378 |
411 |
1.88e0 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000196975
|
SMART Domains |
Protein: ENSMUSP00000142684 Gene: ENSMUSG00000027677
Domain | Start | End | E-Value | Type |
low complexity region
|
38 |
56 |
N/A |
INTRINSIC |
S1
|
123 |
207 |
4.6e-4 |
SMART |
TPR
|
254 |
287 |
3e-3 |
SMART |
TPR
|
288 |
321 |
1e-5 |
SMART |
TPR
|
329 |
362 |
9e-3 |
SMART |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aqp12 |
A |
G |
1: 92,934,531 (GRCm39) |
E136G |
probably benign |
Het |
Bltp3b |
A |
G |
10: 89,616,995 (GRCm39) |
T179A |
probably damaging |
Het |
Cdhr4 |
G |
A |
9: 107,872,486 (GRCm39) |
V244I |
probably benign |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Crygf |
A |
T |
1: 65,965,717 (GRCm39) |
M1L |
probably benign |
Het |
Dapk1 |
G |
T |
13: 60,905,167 (GRCm39) |
C959F |
probably damaging |
Het |
Dop1a |
C |
G |
9: 86,403,495 (GRCm39) |
S1565* |
probably null |
Het |
Eya4 |
A |
G |
10: 22,982,163 (GRCm39) |
S622P |
probably damaging |
Het |
Fbln1 |
T |
C |
15: 85,147,549 (GRCm39) |
V598A |
probably benign |
Het |
Gldc |
A |
T |
19: 30,078,226 (GRCm39) |
F924I |
probably damaging |
Het |
H1f10 |
T |
C |
6: 87,958,130 (GRCm39) |
Y70C |
probably damaging |
Het |
Herc1 |
C |
A |
9: 66,415,563 (GRCm39) |
S4846* |
probably null |
Het |
Jmjd1c |
A |
T |
10: 67,074,629 (GRCm39) |
K1917N |
probably damaging |
Het |
Kcnh2 |
A |
G |
5: 24,529,952 (GRCm39) |
|
probably null |
Het |
Lmtk2 |
T |
C |
5: 144,110,444 (GRCm39) |
F388S |
probably damaging |
Het |
Lpar1 |
A |
C |
4: 58,487,168 (GRCm39) |
Y34* |
probably null |
Het |
Lrpprc |
G |
A |
17: 85,080,686 (GRCm39) |
P180S |
probably damaging |
Het |
Mex3a |
A |
G |
3: 88,443,785 (GRCm39) |
H287R |
probably damaging |
Het |
Nid1 |
A |
G |
13: 13,675,078 (GRCm39) |
T933A |
probably benign |
Het |
Or52r1c |
A |
G |
7: 102,735,633 (GRCm39) |
T298A |
probably damaging |
Het |
Pcdhb7 |
A |
G |
18: 37,475,250 (GRCm39) |
T129A |
probably benign |
Het |
Pfkm |
T |
A |
15: 98,023,456 (GRCm39) |
Y385N |
probably damaging |
Het |
Prmt2 |
G |
A |
10: 76,062,089 (GRCm39) |
Q39* |
probably null |
Het |
Prx |
T |
C |
7: 27,216,051 (GRCm39) |
V184A |
possibly damaging |
Het |
Ptgdr |
A |
C |
14: 45,096,619 (GRCm39) |
L31R |
probably damaging |
Het |
Rab3b |
A |
G |
4: 108,747,691 (GRCm39) |
T63A |
probably damaging |
Het |
Rassf1 |
T |
C |
9: 107,434,749 (GRCm39) |
M156T |
probably damaging |
Het |
Rhobtb1 |
C |
A |
10: 69,106,293 (GRCm39) |
S286* |
probably null |
Het |
Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
Rmnd1 |
A |
T |
10: 4,377,466 (GRCm39) |
M71K |
probably benign |
Het |
Rnf130 |
T |
A |
11: 49,978,290 (GRCm39) |
|
probably null |
Het |
Rxrb |
T |
A |
17: 34,251,103 (GRCm39) |
|
probably benign |
Het |
Ryr2 |
G |
T |
13: 11,753,128 (GRCm39) |
T1731K |
probably damaging |
Het |
Serpine2 |
A |
T |
1: 79,780,570 (GRCm39) |
L293Q |
probably damaging |
Het |
Skint6 |
T |
C |
4: 113,095,339 (GRCm39) |
T107A |
probably damaging |
Het |
Slc9a8 |
T |
A |
2: 167,293,196 (GRCm39) |
H181Q |
probably benign |
Het |
Spaca3 |
A |
T |
11: 80,754,037 (GRCm39) |
Y58F |
possibly damaging |
Het |
Sptbn1 |
T |
C |
11: 30,104,249 (GRCm39) |
T152A |
probably damaging |
Het |
Tlr2 |
A |
G |
3: 83,744,847 (GRCm39) |
L412P |
probably damaging |
Het |
Trak2 |
A |
G |
1: 58,974,941 (GRCm39) |
S84P |
probably damaging |
Het |
Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
Trpm2 |
C |
A |
10: 77,754,798 (GRCm39) |
E1229D |
probably benign |
Het |
Tyrp1 |
G |
A |
4: 80,755,801 (GRCm39) |
W190* |
probably null |
Het |
Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
Vegfb |
C |
A |
19: 6,962,795 (GRCm39) |
R160L |
possibly damaging |
Het |
Vmn1r220 |
A |
G |
13: 23,368,147 (GRCm39) |
M183T |
probably damaging |
Het |
Vmn2r112 |
T |
A |
17: 22,822,096 (GRCm39) |
V258E |
probably damaging |
Het |
Wnt10a |
C |
A |
1: 74,842,589 (GRCm39) |
A355E |
possibly damaging |
Het |
|
Other mutations in Ttc14 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01154:Ttc14
|
APN |
3 |
33,857,248 (GRCm39) |
missense |
probably benign |
0.35 |
IGL01326:Ttc14
|
APN |
3 |
33,855,507 (GRCm39) |
missense |
probably benign |
0.14 |
R0196:Ttc14
|
UTSW |
3 |
33,863,403 (GRCm39) |
unclassified |
probably benign |
|
R0427:Ttc14
|
UTSW |
3 |
33,857,633 (GRCm39) |
missense |
probably damaging |
1.00 |
R1713:Ttc14
|
UTSW |
3 |
33,857,069 (GRCm39) |
missense |
probably damaging |
1.00 |
R2434:Ttc14
|
UTSW |
3 |
33,855,227 (GRCm39) |
missense |
probably benign |
0.40 |
R4794:Ttc14
|
UTSW |
3 |
33,857,298 (GRCm39) |
missense |
probably benign |
0.00 |
R4825:Ttc14
|
UTSW |
3 |
33,855,518 (GRCm39) |
missense |
possibly damaging |
0.88 |
R4888:Ttc14
|
UTSW |
3 |
33,861,024 (GRCm39) |
nonsense |
probably null |
|
R5143:Ttc14
|
UTSW |
3 |
33,863,050 (GRCm39) |
unclassified |
probably benign |
|
R6051:Ttc14
|
UTSW |
3 |
33,863,073 (GRCm39) |
unclassified |
probably benign |
|
R6270:Ttc14
|
UTSW |
3 |
33,854,537 (GRCm39) |
missense |
possibly damaging |
0.68 |
R6415:Ttc14
|
UTSW |
3 |
33,857,724 (GRCm39) |
missense |
possibly damaging |
0.81 |
R6439:Ttc14
|
UTSW |
3 |
33,862,968 (GRCm39) |
unclassified |
probably benign |
|
R7021:Ttc14
|
UTSW |
3 |
33,857,646 (GRCm39) |
missense |
probably damaging |
0.99 |
R7571:Ttc14
|
UTSW |
3 |
33,863,400 (GRCm39) |
missense |
unknown |
|
R7751:Ttc14
|
UTSW |
3 |
33,863,590 (GRCm39) |
missense |
unknown |
|
R8021:Ttc14
|
UTSW |
3 |
33,863,270 (GRCm39) |
nonsense |
probably null |
|
R8388:Ttc14
|
UTSW |
3 |
33,854,735 (GRCm39) |
missense |
probably benign |
0.01 |
R8884:Ttc14
|
UTSW |
3 |
33,854,696 (GRCm39) |
missense |
unknown |
|
R9169:Ttc14
|
UTSW |
3 |
33,857,071 (GRCm39) |
nonsense |
probably null |
|
R9399:Ttc14
|
UTSW |
3 |
33,858,856 (GRCm39) |
missense |
possibly damaging |
0.62 |
R9438:Ttc14
|
UTSW |
3 |
33,858,861 (GRCm39) |
missense |
probably damaging |
1.00 |
R9537:Ttc14
|
UTSW |
3 |
33,857,347 (GRCm39) |
missense |
probably damaging |
0.96 |
R9663:Ttc14
|
UTSW |
3 |
33,855,537 (GRCm39) |
missense |
probably benign |
0.01 |
|
Predicted Primers |
PCR Primer
(F):5'- ACCAACTGCAATATGGTCCTC -3'
(R):5'- ATATGGCACTTTGGGTTCAACTC -3'
Sequencing Primer
(F):5'- CAACTGCAATATGGTCCTCAATATTG -3'
(R):5'- ACTTTGGGTTCAACTCTGTTGC -3'
|
Posted On |
2014-11-11 |