Incidental Mutation 'IGL01154:Ttc14'
| ID |
50818 |
| 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: 0.383)
|
| Stock # |
IGL01154
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
33853981-33869009 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 33857248 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 198
(Y198F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103845
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099153]
[ENSMUST00000108210]
[ENSMUST00000117915]
[ENSMUST00000196139]
[ENSMUST00000196369]
[ENSMUST00000196975]
[ENSMUST00000200271]
[ENSMUST00000199222]
[ENSMUST00000198529]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099153
AA Change: Y198F
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000096757
Gene: ENSMUSG00000027677
AA Change: Y198F
| 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: Y198F
PolyPhen 2
Score 0.348 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000103845
Gene: ENSMUSG00000027677
AA Change: Y198F
| 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: Y198F
PolyPhen 2
Score 0.118 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000112450
Gene: ENSMUSG00000027677
AA Change: Y198F
| 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
AA Change: Y96F
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000142863
Gene: ENSMUSG00000027677
AA Change: Y96F
| 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: Y198F
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000142684
Gene: ENSMUSG00000027677
AA Change: Y198F
| 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 |
noncoding transcript
Transcript: ENSMUST00000197592
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200271
AA Change: Y195F
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000143738
Gene: ENSMUSG00000027677
AA Change: Y195F
| 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: ENSMUST00000199222
AA Change: Y198F
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000142935
Gene: ENSMUSG00000027677
AA Change: Y198F
| 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: ENSMUST00000198529
AA Change: Y198F
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000143073
Gene: ENSMUSG00000027677
AA Change: Y198F
| 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: ENSMUST00000199523
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
| 2210408I21Rik |
T |
G |
13: 77,429,213 (GRCm39) |
F767V |
probably benign |
Het |
| A2m |
C |
A |
6: 121,650,501 (GRCm39) |
S1203* |
probably null |
Het |
| Abcc3 |
T |
C |
11: 94,250,058 (GRCm39) |
|
probably benign |
Het |
| Adamts13 |
T |
C |
2: 26,896,206 (GRCm39) |
Y1200H |
probably benign |
Het |
| Aldh1l2 |
T |
C |
10: 83,356,237 (GRCm39) |
D51G |
probably damaging |
Het |
| Apc2 |
A |
G |
10: 80,148,903 (GRCm39) |
E1319G |
possibly damaging |
Het |
| Arap3 |
A |
T |
18: 38,129,787 (GRCm39) |
S125T |
probably benign |
Het |
| Atp2b1 |
T |
A |
10: 98,832,750 (GRCm39) |
V417E |
probably damaging |
Het |
| Bpifa1 |
T |
A |
2: 153,985,920 (GRCm39) |
D78E |
probably benign |
Het |
| Catsperb |
C |
A |
12: 101,591,940 (GRCm39) |
A1090E |
possibly damaging |
Het |
| Ceacam9 |
C |
A |
7: 16,457,886 (GRCm39) |
T138K |
probably damaging |
Het |
| Cenpf |
T |
A |
1: 189,412,530 (GRCm39) |
E244D |
probably benign |
Het |
| Cep135 |
A |
T |
5: 76,754,643 (GRCm39) |
|
probably benign |
Het |
| Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
| Col15a1 |
A |
C |
4: 47,208,450 (GRCm39) |
T6P |
possibly damaging |
Het |
| Cyp11b1 |
T |
A |
15: 74,710,383 (GRCm39) |
Q306L |
probably benign |
Het |
| Defa22 |
T |
A |
8: 21,653,053 (GRCm39) |
|
probably null |
Het |
| Dnah5 |
A |
T |
15: 28,458,802 (GRCm39) |
T4480S |
possibly damaging |
Het |
| Fastkd1 |
T |
C |
2: 69,520,404 (GRCm39) |
|
probably null |
Het |
| Flt1 |
A |
G |
5: 147,512,966 (GRCm39) |
Y1124H |
possibly damaging |
Het |
| Fsd1l |
A |
G |
4: 53,701,074 (GRCm39) |
M469V |
probably benign |
Het |
| Fxr2 |
T |
C |
11: 69,532,259 (GRCm39) |
|
probably benign |
Het |
| Gm10801 |
A |
T |
2: 98,494,328 (GRCm39) |
Y135F |
probably benign |
Het |
| Grm4 |
A |
T |
17: 27,653,711 (GRCm39) |
C699* |
probably null |
Het |
| Hcn4 |
A |
G |
9: 58,766,362 (GRCm39) |
T677A |
unknown |
Het |
| Igkv9-123 |
G |
T |
6: 67,931,518 (GRCm39) |
|
probably benign |
Het |
| Irf4 |
T |
A |
13: 30,941,404 (GRCm39) |
H253Q |
possibly damaging |
Het |
| Jakmip2 |
T |
C |
18: 43,723,744 (GRCm39) |
|
probably benign |
Het |
| Kmt2c |
A |
G |
5: 25,489,397 (GRCm39) |
V1134A |
probably damaging |
Het |
| Limch1 |
G |
T |
5: 66,903,301 (GRCm39) |
E17* |
probably null |
Het |
| Nap1l1 |
T |
A |
10: 111,322,536 (GRCm39) |
N72K |
probably damaging |
Het |
| Or4x11 |
T |
C |
2: 89,867,812 (GRCm39) |
L183P |
probably damaging |
Het |
| Or51t4 |
T |
C |
7: 102,598,046 (GRCm39) |
S115P |
probably damaging |
Het |
| Otud6b |
A |
T |
4: 14,811,732 (GRCm39) |
Y304N |
probably damaging |
Het |
| Pdcd10 |
A |
C |
3: 75,448,540 (GRCm39) |
M8R |
probably damaging |
Het |
| Ppip5k1 |
T |
C |
2: 121,173,660 (GRCm39) |
T404A |
probably damaging |
Het |
| Ppp2r2d |
C |
T |
7: 138,483,940 (GRCm39) |
A197V |
probably benign |
Het |
| Psg25 |
C |
T |
7: 18,258,624 (GRCm39) |
D351N |
probably benign |
Het |
| Sbno1 |
A |
T |
5: 124,548,312 (GRCm39) |
I87N |
probably damaging |
Het |
| Stfa2l1 |
C |
T |
16: 35,980,307 (GRCm39) |
|
probably benign |
Het |
| Sugp2 |
T |
A |
8: 70,695,349 (GRCm39) |
D107E |
probably damaging |
Het |
| Syne1 |
G |
T |
10: 5,310,848 (GRCm39) |
F576L |
probably damaging |
Het |
| Syne3 |
A |
G |
12: 104,924,328 (GRCm39) |
F357S |
probably benign |
Het |
| Tenm2 |
A |
G |
11: 35,932,371 (GRCm39) |
L1741P |
probably damaging |
Het |
| Tgs1 |
A |
T |
4: 3,585,473 (GRCm39) |
K117* |
probably null |
Het |
| Tram1 |
C |
T |
1: 13,649,673 (GRCm39) |
|
probably null |
Het |
| Trank1 |
T |
A |
9: 111,215,468 (GRCm39) |
D1799E |
probably benign |
Het |
| Ube3b |
A |
G |
5: 114,544,313 (GRCm39) |
N570S |
probably null |
Het |
| Ube4b |
A |
G |
4: 149,449,927 (GRCm39) |
F412S |
probably benign |
Het |
| Vac14 |
T |
C |
8: 111,380,239 (GRCm39) |
|
probably benign |
Het |
| Vmn2r65 |
T |
C |
7: 84,592,729 (GRCm39) |
T493A |
probably benign |
Het |
| Zfp408 |
T |
C |
2: 91,478,351 (GRCm39) |
|
probably benign |
Het |
| Zfp580 |
C |
T |
7: 5,056,267 (GRCm39) |
T209I |
possibly damaging |
Het |
|
| Other mutations in Ttc14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-06-21 |
Incidental Mutation