Incidental Mutation 'R2434:Ttc14'
| ID |
250515 |
| 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 |
040395-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.383)
|
| Stock # |
R2434 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
33853981-33869009 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 33855227 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 125
(D125G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143173
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099153]
[ENSMUST00000108210]
[ENSMUST00000117915]
[ENSMUST00000196139]
[ENSMUST00000196369]
[ENSMUST00000196975]
[ENSMUST00000198529]
[ENSMUST00000199222]
[ENSMUST00000200271]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099153
AA Change: D94G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000096757
Gene: ENSMUSG00000027677
AA Change: D94G
| 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: D94G
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000103845
Gene: ENSMUSG00000027677
AA Change: D94G
| 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: D94G
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000112450
Gene: ENSMUSG00000027677
AA Change: D94G
| 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: D125G
PolyPhen 2
Score 0.401 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000143173
Gene: ENSMUSG00000027677
AA Change: D125G
| 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
AA Change: D94G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000142684
Gene: ENSMUSG00000027677
AA Change: D94G
| 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: ENSMUST00000198529
AA Change: D94G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000143073
Gene: ENSMUSG00000027677
AA Change: D94G
| 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: ENSMUST00000199222
AA Change: D94G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000142935
Gene: ENSMUSG00000027677
AA Change: D94G
| 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: D91G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000143738
Gene: ENSMUSG00000027677
AA Change: D91G
| 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 |
noncoding transcript
Transcript: ENSMUST00000200559
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199523
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl5 |
A |
G |
5: 31,051,357 (GRCm39) |
Q493R |
probably damaging |
Het |
| Ank3 |
T |
C |
10: 69,837,948 (GRCm39) |
V785A |
probably damaging |
Het |
| Capsl |
A |
T |
15: 9,462,795 (GRCm39) |
H145L |
probably damaging |
Het |
| Carns1 |
A |
C |
19: 4,215,448 (GRCm39) |
C911W |
probably damaging |
Het |
| Celsr2 |
A |
C |
3: 108,311,795 (GRCm39) |
F1351V |
probably damaging |
Het |
| Cpne8 |
T |
C |
15: 90,393,714 (GRCm39) |
I432V |
probably benign |
Het |
| Cpxm1 |
A |
T |
2: 130,236,004 (GRCm39) |
I386N |
probably damaging |
Het |
| E2f5 |
T |
A |
3: 14,644,074 (GRCm39) |
D65E |
probably damaging |
Het |
| Eif3a |
T |
C |
19: 60,752,488 (GRCm39) |
|
probably benign |
Het |
| Fcrl2 |
A |
G |
3: 87,164,005 (GRCm39) |
Y375H |
probably damaging |
Het |
| Fip1l1 |
C |
A |
5: 74,707,485 (GRCm39) |
T196K |
possibly damaging |
Het |
| Fmo6 |
A |
T |
1: 162,744,439 (GRCm39) |
N484K |
probably benign |
Het |
| Foxred1 |
G |
T |
9: 35,116,954 (GRCm39) |
D345E |
probably damaging |
Het |
| Gbe1 |
T |
A |
16: 70,238,100 (GRCm39) |
N295K |
probably damaging |
Het |
| Gipc2 |
T |
A |
3: 151,843,317 (GRCm39) |
I107L |
probably benign |
Het |
| Kcnn1 |
GTCCTCCTCCTCCTCCTCCTC |
GTCCTCCTCCTCCTCCTC |
8: 71,307,810 (GRCm39) |
|
probably benign |
Het |
| Lgr5 |
T |
A |
10: 115,423,311 (GRCm39) |
I30L |
probably benign |
Het |
| Nbea |
A |
T |
3: 55,554,881 (GRCm39) |
V2589E |
possibly damaging |
Het |
| Ncam2 |
A |
T |
16: 81,392,113 (GRCm39) |
N699I |
probably benign |
Het |
| Nlrp1b |
T |
C |
11: 71,047,552 (GRCm39) |
|
probably null |
Het |
| Or11l3 |
A |
G |
11: 58,515,937 (GRCm39) |
Y312H |
possibly damaging |
Het |
| Rnasel |
T |
C |
1: 153,630,396 (GRCm39) |
V304A |
probably damaging |
Het |
| Serinc4 |
C |
T |
2: 121,286,186 (GRCm39) |
R134H |
probably benign |
Het |
| Sim1 |
T |
A |
10: 50,784,054 (GRCm39) |
Y103N |
probably damaging |
Het |
| Slc47a1 |
A |
T |
11: 61,258,548 (GRCm39) |
|
probably null |
Het |
| Slc6a6 |
T |
A |
6: 91,712,193 (GRCm39) |
S241T |
probably benign |
Het |
| Son |
G |
T |
16: 91,451,575 (GRCm39) |
K107N |
probably damaging |
Het |
| St3gal6 |
T |
C |
16: 58,291,015 (GRCm39) |
T329A |
probably damaging |
Het |
| Stab2 |
G |
A |
10: 86,805,183 (GRCm39) |
P265L |
possibly damaging |
Het |
| Tmem199 |
G |
A |
11: 78,400,570 (GRCm39) |
T119I |
probably damaging |
Het |
| Vmn1r205 |
T |
A |
13: 22,776,524 (GRCm39) |
M193L |
probably benign |
Het |
| Vmn2r-ps158 |
A |
G |
7: 42,696,881 (GRCm39) |
Y646C |
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 |
|
|
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'- ACGAGTTTGGATGTATGAGAGC -3'
(R):5'- AAGAAGAGCTCTCTCCGGTC -3'
Sequencing Primer
(F):5'- ATGTATGAGAGCGTGGATCAGTG -3'
(R):5'- TCCGGTCCATGCTTGGC -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation