Incidental Mutation 'IGL01326:Ttc14'
ID |
74275 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ttc14
|
Ensembl Gene |
ENSMUSG00000027677 |
Gene Name |
tetratricopeptide repeat domain 14 |
Synonyms |
4933402I15Rik, 4931403I22Rik, cI-44, 4930434D01Rik, 2700016E08Rik |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.385)
|
Stock # |
IGL01326
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
33853981-33869009 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 33855507 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 151
(I151V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112450
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099153]
[ENSMUST00000108210]
[ENSMUST00000117915]
[ENSMUST00000196139]
[ENSMUST00000196369]
[ENSMUST00000196975]
[ENSMUST00000199222]
[ENSMUST00000200271]
[ENSMUST00000198529]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000099153
AA Change: I151V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000096757 Gene: ENSMUSG00000027677 AA Change: I151V
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: ENSMUST00000108210
AA Change: I151V
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000103845 Gene: ENSMUSG00000027677 AA Change: I151V
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 benign
Transcript: ENSMUST00000117915
AA Change: I151V
PolyPhen 2
Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000112450 Gene: ENSMUSG00000027677 AA Change: I151V
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
AA Change: I182V
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000143173 Gene: ENSMUSG00000027677 AA Change: I182V
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
AA Change: I49V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000142863 Gene: ENSMUSG00000027677 AA Change: I49V
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 benign
Transcript: ENSMUST00000196975
AA Change: I151V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000142684 Gene: ENSMUSG00000027677 AA Change: I151V
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000199222
AA Change: I151V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000142935 Gene: ENSMUSG00000027677 AA Change: I151V
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
AA Change: I148V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000143738 Gene: ENSMUSG00000027677 AA Change: I148V
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: ENSMUST00000198529
AA Change: I151V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000143073 Gene: ENSMUSG00000027677 AA Change: I151V
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: ENSMUST00000200559
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197592
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199523
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adh1 |
G |
A |
3: 137,992,672 (GRCm39) |
V263M |
probably damaging |
Het |
Akap13 |
T |
A |
7: 75,375,096 (GRCm39) |
H1909Q |
probably benign |
Het |
Atg2b |
C |
T |
12: 105,588,403 (GRCm39) |
A1936T |
probably damaging |
Het |
Atp8b3 |
G |
T |
10: 80,360,210 (GRCm39) |
L954M |
probably damaging |
Het |
C8a |
T |
C |
4: 104,713,617 (GRCm39) |
Y171C |
probably damaging |
Het |
Cd6 |
A |
G |
19: 10,768,466 (GRCm39) |
S508P |
probably benign |
Het |
Cdk4 |
A |
G |
10: 126,900,492 (GRCm39) |
D86G |
possibly damaging |
Het |
Cdr2l |
G |
T |
11: 115,281,796 (GRCm39) |
R100S |
probably benign |
Het |
Cndp1 |
T |
A |
18: 84,640,357 (GRCm39) |
T283S |
probably benign |
Het |
Cr2 |
T |
C |
1: 194,823,529 (GRCm39) |
Y1023C |
probably null |
Het |
Csmd3 |
A |
G |
15: 47,713,181 (GRCm39) |
F1494L |
probably benign |
Het |
Eeig2 |
A |
G |
3: 108,887,101 (GRCm39) |
V299A |
possibly damaging |
Het |
Eng |
G |
T |
2: 32,562,394 (GRCm39) |
G231W |
probably benign |
Het |
Erp44 |
A |
G |
4: 48,218,126 (GRCm39) |
V181A |
probably benign |
Het |
Fkbp15 |
A |
G |
4: 62,241,487 (GRCm39) |
S553P |
probably damaging |
Het |
Glg1 |
A |
G |
8: 111,909,205 (GRCm39) |
V495A |
probably damaging |
Het |
Gm9631 |
A |
T |
11: 121,836,454 (GRCm39) |
D28E |
possibly damaging |
Het |
Gnptab |
G |
T |
10: 88,268,927 (GRCm39) |
L543F |
probably damaging |
Het |
H4c3 |
A |
T |
13: 23,882,353 (GRCm39) |
I27N |
probably damaging |
Het |
Khdrbs2 |
T |
G |
1: 32,696,558 (GRCm39) |
L329R |
possibly damaging |
Het |
Kidins220 |
C |
A |
12: 25,088,498 (GRCm39) |
H1080Q |
probably damaging |
Het |
Maml1 |
G |
A |
11: 50,156,715 (GRCm39) |
P487S |
probably benign |
Het |
Me1 |
C |
T |
9: 86,480,771 (GRCm39) |
|
probably null |
Het |
Morc2a |
C |
T |
11: 3,631,775 (GRCm39) |
R569C |
probably benign |
Het |
Mrc1 |
A |
G |
2: 14,271,335 (GRCm39) |
Q413R |
probably damaging |
Het |
Mrgprx1 |
A |
T |
7: 47,671,517 (GRCm39) |
C77S |
probably benign |
Het |
Mtarc2 |
T |
C |
1: 184,566,048 (GRCm39) |
|
probably benign |
Het |
Myo1d |
A |
T |
11: 80,575,147 (GRCm39) |
|
probably benign |
Het |
Nr4a1 |
T |
G |
15: 101,171,940 (GRCm39) |
L538R |
probably damaging |
Het |
Olfm1 |
T |
C |
2: 28,119,564 (GRCm39) |
Y385H |
probably damaging |
Het |
Or4a39 |
A |
T |
2: 89,236,675 (GRCm39) |
F249L |
possibly damaging |
Het |
Or5m9 |
A |
G |
2: 85,877,627 (GRCm39) |
E267G |
probably damaging |
Het |
Pkd1 |
T |
A |
17: 24,795,148 (GRCm39) |
Y2278* |
probably null |
Het |
Plcg2 |
T |
C |
8: 118,300,738 (GRCm39) |
|
probably benign |
Het |
Prkdc |
G |
T |
16: 15,647,556 (GRCm39) |
C3660F |
probably benign |
Het |
Ptpn11 |
T |
C |
5: 121,281,199 (GRCm39) |
D493G |
probably damaging |
Het |
Rad23b |
T |
A |
4: 55,383,601 (GRCm39) |
F278I |
possibly damaging |
Het |
Saxo2 |
T |
C |
7: 82,297,613 (GRCm39) |
I9V |
probably benign |
Het |
Scn7a |
T |
C |
2: 66,582,604 (GRCm39) |
I98V |
probably benign |
Het |
Serac1 |
T |
A |
17: 6,124,528 (GRCm39) |
|
probably benign |
Het |
Simc1 |
T |
C |
13: 54,672,473 (GRCm39) |
C274R |
probably benign |
Het |
Sirt3 |
A |
G |
7: 140,444,006 (GRCm39) |
|
probably benign |
Het |
Tctn3 |
A |
G |
19: 40,585,880 (GRCm39) |
L555P |
probably damaging |
Het |
Ush2a |
T |
A |
1: 187,995,518 (GRCm39) |
Y96* |
probably null |
Het |
Usp42 |
T |
C |
5: 143,706,970 (GRCm39) |
T270A |
possibly damaging |
Het |
Vmn1r31 |
A |
G |
6: 58,449,784 (GRCm39) |
I27T |
probably benign |
Het |
Vmn2r93 |
G |
A |
17: 18,536,906 (GRCm39) |
A530T |
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 |
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 |
R2312:Ttc14
|
UTSW |
3 |
33,861,984 (GRCm39) |
splice site |
probably null |
|
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 |
|
Posted On |
2013-10-07 |