Incidental Mutation 'R5143:Ttc14'
| ID |
396512 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R5143 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
33853981-33869009 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 33863050 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143738
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029222]
[ENSMUST00000099153]
[ENSMUST00000108210]
[ENSMUST00000117915]
[ENSMUST00000196369]
[ENSMUST00000196975]
[ENSMUST00000198529]
[ENSMUST00000199222]
[ENSMUST00000200271]
|
| 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 |
unknown
Transcript: ENSMUST00000108210
AA Change: V538A
|
| SMART Domains |
Protein: ENSMUSP00000103845
Gene: ENSMUSG00000027677
AA Change: V538A
| 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 |
unknown
Transcript: ENSMUST00000117915
AA Change: V486A
|
| SMART Domains |
Protein: ENSMUSP00000112450
Gene: ENSMUSG00000027677
AA Change: V486A
| 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: 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 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 |
|
| Predicted Effect |
probably benign
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: ENSMUST00000200536
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
C |
T |
5: 109,887,064 (GRCm39) |
|
probably null |
Het |
| Abcc2 |
T |
C |
19: 43,810,100 (GRCm39) |
I886T |
probably benign |
Het |
| Adrb2 |
T |
C |
18: 62,311,847 (GRCm39) |
Y326C |
probably damaging |
Het |
| Aplp1 |
G |
A |
7: 30,140,548 (GRCm39) |
R334C |
probably damaging |
Het |
| AY358078 |
T |
C |
14: 52,040,006 (GRCm39) |
S39P |
unknown |
Het |
| Bpifb2 |
A |
T |
2: 153,720,424 (GRCm39) |
D61V |
probably damaging |
Het |
| Caap1 |
A |
T |
4: 94,389,619 (GRCm39) |
N238K |
probably damaging |
Het |
| Cfap54 |
A |
G |
10: 92,865,020 (GRCm39) |
V726A |
possibly damaging |
Het |
| Chrna7 |
T |
C |
7: 62,755,895 (GRCm39) |
Y217C |
probably damaging |
Het |
| Crocc |
T |
A |
4: 140,768,350 (GRCm39) |
T414S |
probably benign |
Het |
| Cyp2a12 |
A |
G |
7: 26,736,036 (GRCm39) |
I482V |
probably benign |
Het |
| Dnah6 |
A |
T |
6: 73,158,744 (GRCm39) |
F620I |
possibly damaging |
Het |
| Eogt |
A |
G |
6: 97,102,545 (GRCm39) |
L256P |
probably damaging |
Het |
| F5 |
A |
G |
1: 164,039,397 (GRCm39) |
I2002M |
probably damaging |
Het |
| Foxp1 |
A |
G |
6: 98,922,493 (GRCm39) |
|
probably null |
Het |
| Fut8 |
A |
G |
12: 77,411,983 (GRCm39) |
D111G |
probably benign |
Het |
| Golgb1 |
C |
T |
16: 36,719,051 (GRCm39) |
A319V |
probably benign |
Het |
| Hoxd3 |
C |
T |
2: 74,576,716 (GRCm39) |
R39C |
probably damaging |
Het |
| Mfng |
C |
T |
15: 78,648,588 (GRCm39) |
R163H |
probably benign |
Het |
| Or52b1 |
T |
A |
7: 104,978,731 (GRCm39) |
I223F |
probably damaging |
Het |
| Pate8 |
T |
A |
9: 36,493,200 (GRCm39) |
N41Y |
probably benign |
Het |
| Pcdhb2 |
A |
G |
18: 37,429,785 (GRCm39) |
Y586C |
probably damaging |
Het |
| Plcd1 |
G |
A |
9: 118,903,519 (GRCm39) |
Q442* |
probably null |
Het |
| Plppr5 |
A |
G |
3: 117,419,552 (GRCm39) |
T207A |
probably benign |
Het |
| Pomt1 |
C |
A |
2: 32,144,341 (GRCm39) |
A709E |
probably benign |
Het |
| Prmt8 |
A |
G |
6: 127,709,677 (GRCm39) |
M61T |
probably benign |
Het |
| Ptpn23 |
A |
G |
9: 110,214,506 (GRCm39) |
|
probably benign |
Het |
| Sbf2 |
T |
A |
7: 110,021,747 (GRCm39) |
K493* |
probably null |
Het |
| Semp2l2a |
A |
G |
8: 13,886,844 (GRCm39) |
S416P |
possibly damaging |
Het |
| Tmc2 |
A |
T |
2: 130,076,738 (GRCm39) |
S355C |
probably damaging |
Het |
| Tonsl |
A |
G |
15: 76,520,857 (GRCm39) |
S399P |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,568,409 (GRCm39) |
S19168P |
probably damaging |
Het |
| Usp17lb |
A |
T |
7: 104,490,685 (GRCm39) |
S80T |
probably damaging |
Het |
| Vmn2r96 |
A |
G |
17: 18,804,120 (GRCm39) |
I457V |
possibly damaging |
Het |
| Wdr64 |
G |
T |
1: 175,553,979 (GRCm39) |
D170Y |
probably damaging |
Het |
| Zbtb42 |
T |
C |
12: 112,645,948 (GRCm39) |
V41A |
probably 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 |
|
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 |
|
|
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'- AACGTGTCTGATGAGCCAAC -3'
(R):5'- ACCTGCCTGGGTTTTATAGCTATTG -3'
Sequencing Primer
(F):5'- TCAAGTGTTTCTTCTGCTGATGAATC -3'
(R):5'- TATTGTAAAAATCTGACCTACCTCCC -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation