Incidental Mutation 'R8388:Ttc14'
| ID |
647232 |
| 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 |
067753-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.385)
|
| Stock # |
R8388 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
33853981-33869009 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 33854735 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 21
(N21D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143738
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099153]
[ENSMUST00000108210]
[ENSMUST00000117915]
[ENSMUST00000196139]
[ENSMUST00000196369]
[ENSMUST00000196975]
[ENSMUST00000198529]
[ENSMUST00000200271]
[ENSMUST00000199222]
|
| AlphaFold |
no structure available at present |
| 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 benign
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 benign
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
AA Change: N55D
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000143173
Gene: ENSMUSG00000027677
AA Change: N55D
| 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 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 |
probably benign
Transcript: ENSMUST00000200271
AA Change: N21D
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000143738
Gene: ENSMUSG00000027677
AA Change: N21D
| 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
|
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9430015G10Rik |
T |
A |
4: 156,209,888 (GRCm39) |
Y173N |
probably damaging |
Het |
| A2ml1 |
T |
C |
6: 128,548,937 (GRCm39) |
T282A |
probably benign |
Het |
| Adamdec1 |
A |
T |
14: 68,810,684 (GRCm39) |
Y157* |
probably null |
Het |
| Adgre5 |
A |
G |
8: 84,456,815 (GRCm39) |
Y189H |
probably damaging |
Het |
| Alg11 |
G |
A |
8: 22,552,050 (GRCm39) |
V65I |
probably benign |
Het |
| Bach1 |
G |
A |
16: 87,516,179 (GRCm39) |
R240Q |
probably benign |
Het |
| Camk2b |
C |
T |
11: 5,939,026 (GRCm39) |
V278M |
probably damaging |
Het |
| Ccdc57 |
G |
A |
11: 120,717,744 (GRCm39) |
P950L |
probably benign |
Het |
| Cep68 |
A |
T |
11: 20,180,582 (GRCm39) |
V683D |
probably damaging |
Het |
| Chd6 |
A |
T |
2: 160,861,571 (GRCm39) |
I493N |
probably damaging |
Het |
| Cyfip1 |
A |
G |
7: 55,521,873 (GRCm39) |
Y59C |
probably damaging |
Het |
| Dclk3 |
A |
G |
9: 111,311,813 (GRCm39) |
E685G |
probably damaging |
Het |
| Edaradd |
A |
T |
13: 12,498,484 (GRCm39) |
S78T |
probably benign |
Het |
| Edc4 |
T |
C |
8: 106,614,139 (GRCm39) |
V430A |
probably damaging |
Het |
| Efr3a |
T |
C |
15: 65,738,671 (GRCm39) |
S767P |
probably benign |
Het |
| Enkd1 |
T |
C |
8: 106,431,025 (GRCm39) |
Q234R |
probably damaging |
Het |
| Ercc6 |
ACGGTACCG |
ACGGTACCGGTACCG |
14: 32,292,297 (GRCm39) |
|
probably benign |
Het |
| Hipk2 |
T |
A |
6: 38,722,630 (GRCm39) |
Y468F |
probably damaging |
Het |
| Ifi207 |
GTT |
GT |
1: 173,557,016 (GRCm39) |
|
probably null |
Het |
| Kcna5 |
A |
G |
6: 126,511,588 (GRCm39) |
V180A |
probably benign |
Het |
| Kcnb1 |
T |
C |
2: 166,947,217 (GRCm39) |
I544V |
probably benign |
Het |
| Kif21a |
A |
G |
15: 90,843,327 (GRCm39) |
S1119P |
possibly damaging |
Het |
| Klk13 |
T |
C |
7: 43,373,235 (GRCm39) |
C190R |
probably damaging |
Het |
| Mga |
T |
C |
2: 119,794,562 (GRCm39) |
S2749P |
probably benign |
Het |
| Mpeg1 |
T |
C |
19: 12,440,278 (GRCm39) |
S579P |
probably damaging |
Het |
| Msh3 |
A |
T |
13: 92,359,784 (GRCm39) |
I903K |
probably damaging |
Het |
| Or4s2 |
T |
A |
2: 88,473,305 (GRCm39) |
S65T |
probably damaging |
Het |
| Ptx4 |
T |
C |
17: 25,339,897 (GRCm39) |
S25P |
probably damaging |
Het |
| Sipa1l1 |
G |
T |
12: 82,216,259 (GRCm39) |
|
probably benign |
Het |
| Slfn9 |
G |
C |
11: 82,878,112 (GRCm39) |
T339R |
probably benign |
Het |
| Srsf12 |
C |
G |
4: 33,226,070 (GRCm39) |
P111R |
probably damaging |
Het |
| Tex15 |
A |
G |
8: 34,065,237 (GRCm39) |
I1556V |
probably benign |
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 |
|
|
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 |
|
|
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'- ACGTACGTGCTAAGCTCAGG -3'
(R):5'- TCACCCAACCCTGCTTAGTG -3'
Sequencing Primer
(F):5'- ATGGACCGCGACTTGCTG -3'
(R):5'- AACCCTGCTTAGTGTCTCCAGG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation