Incidental Mutation 'R9537:Ttc14'
| ID |
719725 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttc14
|
| Ensembl Gene |
ENSMUSG00000027677 |
| Gene Name |
tetratricopeptide repeat domain 14 |
| Synonyms |
cI-44, 2700016E08Rik, 4930434D01Rik, 4931403I22Rik, 4933402I15Rik |
| Accession Numbers |
|
| Is this an essential gene? |
Possibly non essential
(E-score: 0.414)
|
| Stock # |
R9537 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
33799832-33814860 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 33803198 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 231
(Y231C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096757
(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 damaging
Transcript: ENSMUST00000099153
AA Change: Y231C
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000096757
Gene: ENSMUSG00000027677
AA Change: Y231C
| 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 damaging
Transcript: ENSMUST00000108210
AA Change: Y231C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103845
Gene: ENSMUSG00000027677
AA Change: Y231C
| 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 damaging
Transcript: ENSMUST00000117915
AA Change: Y231C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112450
Gene: ENSMUSG00000027677
AA Change: Y231C
| 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 damaging
Transcript: ENSMUST00000196369
AA Change: Y129C
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000142863
Gene: ENSMUSG00000027677
AA Change: Y129C
| 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 damaging
Transcript: ENSMUST00000196975
AA Change: Y231C
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000142684
Gene: ENSMUSG00000027677
AA Change: Y231C
| 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 damaging
Transcript: ENSMUST00000198529
AA Change: Y231C
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000143073
Gene: ENSMUSG00000027677
AA Change: Y231C
| 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 damaging
Transcript: ENSMUST00000199222
AA Change: Y231C
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000142935
Gene: ENSMUSG00000027677
AA Change: Y231C
| 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 damaging
Transcript: ENSMUST00000200271
AA Change: Y228C
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000143738
Gene: ENSMUSG00000027677
AA Change: Y228C
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310007B03Rik |
T |
C |
1: 93,153,162 |
K341E |
possibly damaging |
Het |
| Adgra3 |
A |
G |
5: 49,960,865 |
Y1114H |
possibly damaging |
Het |
| Atp5j |
A |
G |
16: 84,828,470 |
Y82H |
probably damaging |
Het |
| Bcl2a1d |
T |
G |
9: 88,731,473 |
I83L |
probably benign |
Het |
| Bean1 |
CT |
C |
8: 104,182,032 |
|
probably null |
Het |
| Bglap3 |
T |
C |
3: 88,368,832 |
D71G |
probably benign |
Het |
| Bnip3l |
G |
A |
14: 67,008,765 |
P7L |
possibly damaging |
Het |
| Chmp2b |
T |
C |
16: 65,551,046 |
K15E |
probably benign |
Het |
| Chrm3 |
A |
T |
13: 9,877,426 |
W525R |
probably damaging |
Het |
| Col7a1 |
A |
T |
9: 108,955,352 |
K143* |
probably null |
Het |
| D6Ertd527e |
G |
C |
6: 87,111,857 |
S334T |
unknown |
Het |
| Dnaic1 |
A |
G |
4: 41,629,790 |
|
probably null |
Het |
| Dnhd1 |
G |
A |
7: 105,695,533 |
G2028D |
probably damaging |
Het |
| Esyt3 |
C |
T |
9: 99,317,239 |
R773Q |
probably damaging |
Het |
| Ffar1 |
T |
C |
7: 30,860,600 |
T291A |
probably benign |
Het |
| Gm5767 |
G |
T |
16: 8,683,313 |
C11F |
|
Het |
| Golga2 |
G |
T |
2: 32,288,301 |
|
probably benign |
Het |
| Hapln2 |
T |
A |
3: 88,024,473 |
|
probably null |
Het |
| Ing1 |
T |
C |
8: 11,561,889 |
L203P |
probably benign |
Het |
| Med1 |
T |
C |
11: 98,171,760 |
T171A |
possibly damaging |
Het |
| Mib2 |
A |
T |
4: 155,657,495 |
L387H |
probably damaging |
Het |
| Mier1 |
A |
G |
4: 103,162,561 |
N494S |
probably benign |
Het |
| Myof |
A |
G |
19: 37,907,606 |
L1847P |
probably damaging |
Het |
| Ndst3 |
A |
T |
3: 123,671,513 |
V270D |
|
Het |
| Nup160 |
T |
C |
2: 90,729,744 |
L1271S |
possibly damaging |
Het |
| Osgep |
A |
T |
14: 50,924,662 |
|
probably null |
Het |
| Ptgfr |
G |
T |
3: 151,835,808 |
T21N |
possibly damaging |
Het |
| Ptgs1 |
T |
C |
2: 36,230,727 |
S23P |
unknown |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,579,914 |
|
probably benign |
Het |
| Smu1 |
A |
G |
4: 40,755,671 |
S65P |
probably benign |
Het |
| Spef2 |
T |
C |
15: 9,601,799 |
Y1459C |
unknown |
Het |
| Spen |
A |
G |
4: 141,471,704 |
V3204A |
probably benign |
Het |
| Spen |
TTGCTGCTGCTGCTGCTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTGCTGCTG |
4: 141,516,845 |
|
probably benign |
Het |
| Timm44 |
G |
A |
8: 4,260,576 |
T392I |
possibly damaging |
Het |
| Tnc |
A |
T |
4: 63,966,584 |
I1818N |
probably damaging |
Het |
| Trpm1 |
G |
T |
7: 64,153,868 |
|
probably benign |
Het |
| Ube3b |
A |
G |
5: 114,387,184 |
R23G |
probably damaging |
Het |
| Usp40 |
T |
C |
1: 88,007,395 |
Y10C |
probably benign |
Het |
| Vmn2r107 |
C |
A |
17: 20,374,887 |
S567R |
probably benign |
Het |
| Zfp112 |
T |
C |
7: 24,127,087 |
Y831H |
probably damaging |
Het |
| Zfy2 |
T |
A |
Y: 2,108,596 |
T355S |
|
Het |
|
| Other mutations in Ttc14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01154:Ttc14
|
APN |
3 |
33803099 |
missense |
probably benign |
0.35 |
|
IGL01326:Ttc14
|
APN |
3 |
33801358 |
missense |
probably benign |
0.14 |
|
R0196:Ttc14
|
UTSW |
3 |
33809254 |
unclassified |
probably benign |
|
|
R0427:Ttc14
|
UTSW |
3 |
33803484 |
missense |
probably damaging |
1.00 |
|
R1713:Ttc14
|
UTSW |
3 |
33802920 |
missense |
probably damaging |
1.00 |
|
R2312:Ttc14
|
UTSW |
3 |
33807835 |
splice site |
probably null |
|
|
R2434:Ttc14
|
UTSW |
3 |
33801078 |
missense |
probably benign |
0.40 |
|
R4794:Ttc14
|
UTSW |
3 |
33803149 |
missense |
probably benign |
0.00 |
|
R4825:Ttc14
|
UTSW |
3 |
33801369 |
missense |
possibly damaging |
0.88 |
|
R4888:Ttc14
|
UTSW |
3 |
33806875 |
nonsense |
probably null |
|
|
R5143:Ttc14
|
UTSW |
3 |
33808901 |
unclassified |
probably benign |
|
|
R6051:Ttc14
|
UTSW |
3 |
33808924 |
unclassified |
probably benign |
|
|
R6270:Ttc14
|
UTSW |
3 |
33800388 |
missense |
possibly damaging |
0.68 |
|
R6415:Ttc14
|
UTSW |
3 |
33803575 |
missense |
possibly damaging |
0.81 |
|
R6439:Ttc14
|
UTSW |
3 |
33808819 |
unclassified |
probably benign |
|
|
R7021:Ttc14
|
UTSW |
3 |
33803497 |
missense |
probably damaging |
0.99 |
|
R7571:Ttc14
|
UTSW |
3 |
33809251 |
missense |
unknown |
|
|
R7751:Ttc14
|
UTSW |
3 |
33809441 |
missense |
unknown |
|
|
R8021:Ttc14
|
UTSW |
3 |
33809121 |
nonsense |
probably null |
|
|
R8388:Ttc14
|
UTSW |
3 |
33800586 |
missense |
probably benign |
0.01 |
|
R8884:Ttc14
|
UTSW |
3 |
33800547 |
missense |
unknown |
|
|
R9169:Ttc14
|
UTSW |
3 |
33802922 |
nonsense |
probably null |
|
|
R9399:Ttc14
|
UTSW |
3 |
33804707 |
missense |
possibly damaging |
0.62 |
|
R9438:Ttc14
|
UTSW |
3 |
33804712 |
missense |
probably damaging |
1.00 |
|
R9663:Ttc14
|
UTSW |
3 |
33801388 |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCGAGGTGATCAACTTCAACATAC -3'
(R):5'- CCCGACTTTACTAGAAATGTGACTC -3'
Sequencing Primer
(F):5'- CTTCAAAGCTGGAATCAAGG -3'
(R):5'- CTCTAGGAGGGTTAAACACTAATGCC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation