Incidental Mutation 'R9183:Ttc16'
| ID |
697160 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttc16
|
| Ensembl Gene |
ENSMUSG00000039021 |
| Gene Name |
tetratricopeptide repeat domain 16 |
| Synonyms |
1200002K10Rik |
| MMRRC Submission |
068950-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.087)
|
| Stock # |
R9183 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
32647038-32665645 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 32647329 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 688
(V688M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088585
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009707]
[ENSMUST00000066478]
[ENSMUST00000074248]
[ENSMUST00000091059]
[ENSMUST00000113242]
[ENSMUST00000156617]
[ENSMUST00000161089]
[ENSMUST00000161430]
[ENSMUST00000161950]
[ENSMUST00000175763]
[ENSMUST00000177382]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
silent
Transcript: ENSMUST00000009707
|
| SMART Domains |
Protein: ENSMUSP00000009707
Gene: ENSMUSG00000009563
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
Pfam:Torsin
|
35 |
160 |
1.2e-54 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066478
|
| SMART Domains |
Protein: ENSMUSP00000068977
Gene: ENSMUSG00000039021
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
18 |
51 |
2.26e-3 |
SMART |
|
TPR
|
52 |
85 |
4.09e-1 |
SMART |
|
TPR
|
93 |
126 |
8.3e-2 |
SMART |
|
TPR
|
161 |
194 |
4.44e1 |
SMART |
|
TPR
|
208 |
241 |
3.69e1 |
SMART |
|
TPR
|
242 |
275 |
1.08e1 |
SMART |
|
Blast:TPR
|
288 |
321 |
2e-10 |
BLAST |
|
TPR
|
322 |
355 |
1.02e-1 |
SMART |
|
TPR
|
363 |
396 |
7.27e0 |
SMART |
|
Blast:TPR
|
397 |
430 |
2e-12 |
BLAST |
|
low complexity region
|
539 |
554 |
N/A |
INTRINSIC |
|
low complexity region
|
565 |
577 |
N/A |
INTRINSIC |
|
low complexity region
|
629 |
640 |
N/A |
INTRINSIC |
|
low complexity region
|
725 |
750 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074248
|
| SMART Domains |
Protein: ENSMUSP00000073866
Gene: ENSMUSG00000059013
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
22 |
43 |
N/A |
INTRINSIC |
|
low complexity region
|
86 |
98 |
N/A |
INTRINSIC |
|
low complexity region
|
117 |
132 |
N/A |
INTRINSIC |
|
low complexity region
|
190 |
207 |
N/A |
INTRINSIC |
|
SH2
|
213 |
301 |
7.8e-21 |
SMART |
|
low complexity region
|
333 |
348 |
N/A |
INTRINSIC |
|
low complexity region
|
400 |
415 |
N/A |
INTRINSIC |
|
low complexity region
|
422 |
436 |
N/A |
INTRINSIC |
|
low complexity region
|
474 |
487 |
N/A |
INTRINSIC |
|
RasGEF
|
576 |
849 |
8.18e-10 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091059
AA Change: V688M
PolyPhen 2
Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000088585
Gene: ENSMUSG00000039021
AA Change: V688M
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
75 |
108 |
2.26e-3 |
SMART |
|
TPR
|
109 |
142 |
4.09e-1 |
SMART |
|
TPR
|
150 |
183 |
8.3e-2 |
SMART |
|
TPR
|
218 |
251 |
4.44e1 |
SMART |
|
TPR
|
265 |
298 |
3.69e1 |
SMART |
|
TPR
|
299 |
332 |
1.08e1 |
SMART |
|
Blast:TPR
|
345 |
378 |
2e-10 |
BLAST |
|
TPR
|
379 |
412 |
1.02e-1 |
SMART |
|
TPR
|
420 |
453 |
7.27e0 |
SMART |
|
Blast:TPR
|
454 |
487 |
2e-12 |
BLAST |
|
low complexity region
|
631 |
644 |
N/A |
INTRINSIC |
|
low complexity region
|
666 |
679 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113242
|
| SMART Domains |
Protein: ENSMUSP00000108868
Gene: ENSMUSG00000059013
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
38 |
55 |
N/A |
INTRINSIC |
|
SH2
|
61 |
149 |
7.8e-21 |
SMART |
|
low complexity region
|
181 |
196 |
N/A |
INTRINSIC |
|
low complexity region
|
248 |
263 |
N/A |
INTRINSIC |
|
low complexity region
|
270 |
284 |
N/A |
INTRINSIC |
|
low complexity region
|
322 |
335 |
N/A |
INTRINSIC |
|
RasGEF
|
424 |
697 |
8.18e-10 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140999
|
| Predicted Effect |
silent
Transcript: ENSMUST00000156617
|
| SMART Domains |
Protein: ENSMUSP00000122251
Gene: ENSMUSG00000009563
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161089
|
| SMART Domains |
Protein: ENSMUSP00000124915
Gene: ENSMUSG00000039021
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
18 |
51 |
2.26e-3 |
SMART |
|
TPR
|
52 |
85 |
4.09e-1 |
SMART |
|
TPR
|
93 |
126 |
8.3e-2 |
SMART |
|
TPR
|
161 |
194 |
4.44e1 |
SMART |
|
TPR
|
208 |
241 |
3.69e1 |
SMART |
|
TPR
|
242 |
275 |
1.08e1 |
SMART |
|
Blast:TPR
|
288 |
321 |
2e-10 |
BLAST |
|
TPR
|
322 |
355 |
1.02e-1 |
SMART |
|
TPR
|
363 |
396 |
7.27e0 |
SMART |
|
Blast:TPR
|
397 |
430 |
2e-12 |
BLAST |
|
low complexity region
|
539 |
554 |
N/A |
INTRINSIC |
|
low complexity region
|
565 |
577 |
N/A |
INTRINSIC |
|
low complexity region
|
629 |
640 |
N/A |
INTRINSIC |
|
low complexity region
|
725 |
750 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161430
|
| SMART Domains |
Protein: ENSMUSP00000124031
Gene: ENSMUSG00000039021
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
75 |
108 |
2.26e-3 |
SMART |
|
TPR
|
109 |
142 |
4.09e-1 |
SMART |
|
TPR
|
150 |
183 |
8.3e-2 |
SMART |
|
TPR
|
218 |
251 |
4.44e1 |
SMART |
|
TPR
|
265 |
298 |
3.69e1 |
SMART |
|
TPR
|
299 |
332 |
1.08e1 |
SMART |
|
Blast:TPR
|
345 |
378 |
2e-10 |
BLAST |
|
TPR
|
379 |
412 |
1.02e-1 |
SMART |
|
TPR
|
420 |
453 |
7.27e0 |
SMART |
|
Blast:TPR
|
454 |
487 |
2e-12 |
BLAST |
|
low complexity region
|
596 |
611 |
N/A |
INTRINSIC |
|
low complexity region
|
622 |
634 |
N/A |
INTRINSIC |
|
low complexity region
|
686 |
697 |
N/A |
INTRINSIC |
|
low complexity region
|
782 |
807 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161950
|
| SMART Domains |
Protein: ENSMUSP00000123927
Gene: ENSMUSG00000039021
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
18 |
51 |
2.26e-3 |
SMART |
|
TPR
|
52 |
85 |
4.09e-1 |
SMART |
|
TPR
|
93 |
126 |
8.3e-2 |
SMART |
|
TPR
|
161 |
194 |
4.44e1 |
SMART |
|
TPR
|
208 |
241 |
3.69e1 |
SMART |
|
TPR
|
242 |
275 |
1.08e1 |
SMART |
|
Blast:TPR
|
288 |
321 |
2e-10 |
BLAST |
|
TPR
|
322 |
355 |
1.02e-1 |
SMART |
|
TPR
|
363 |
396 |
7.27e0 |
SMART |
|
Blast:TPR
|
397 |
430 |
2e-12 |
BLAST |
|
low complexity region
|
539 |
554 |
N/A |
INTRINSIC |
|
low complexity region
|
565 |
577 |
N/A |
INTRINSIC |
|
low complexity region
|
629 |
640 |
N/A |
INTRINSIC |
|
low complexity region
|
725 |
750 |
N/A |
INTRINSIC |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000175763
|
| SMART Domains |
Protein: ENSMUSP00000135701
Gene: ENSMUSG00000009563
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000177382
|
| SMART Domains |
Protein: ENSMUSP00000134968
Gene: ENSMUSG00000009563
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
Pfam:Torsin
|
35 |
101 |
1.4e-25 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox2 |
A |
G |
14: 8,251,559 (GRCm38) |
C313R |
probably damaging |
Het |
| Adap2 |
A |
G |
11: 80,045,882 (GRCm39) |
N54S |
probably damaging |
Het |
| Adcy8 |
T |
C |
15: 64,694,116 (GRCm39) |
D387G |
probably damaging |
Het |
| Adgra1 |
G |
A |
7: 139,455,716 (GRCm39) |
R448Q |
probably benign |
Het |
| Antxr1 |
A |
T |
6: 87,264,025 (GRCm39) |
D148E |
probably damaging |
Het |
| Ap3d1 |
A |
T |
10: 80,545,627 (GRCm39) |
V1034E |
probably null |
Het |
| Arpp21 |
C |
T |
9: 111,895,066 (GRCm39) |
A731T |
probably benign |
Het |
| Asl |
T |
A |
5: 130,042,312 (GRCm39) |
R255W |
probably damaging |
Het |
| Asxl1 |
T |
A |
2: 153,239,840 (GRCm39) |
S544T |
probably damaging |
Het |
| Atp8a1 |
A |
C |
5: 67,924,378 (GRCm39) |
Y329D |
|
Het |
| Calcr |
A |
T |
6: 3,711,463 (GRCm39) |
I186N |
probably damaging |
Het |
| Cdh18 |
T |
C |
15: 23,227,065 (GRCm39) |
|
probably null |
Het |
| Celsr3 |
T |
C |
9: 108,706,595 (GRCm39) |
L1026P |
probably damaging |
Het |
| Ces2a |
T |
A |
8: 105,460,774 (GRCm39) |
V24E |
possibly damaging |
Het |
| Clybl |
T |
C |
14: 122,639,387 (GRCm39) |
I317T |
probably damaging |
Het |
| Col13a1 |
T |
A |
10: 61,699,758 (GRCm39) |
T476S |
unknown |
Het |
| Cyp4f15 |
T |
C |
17: 32,919,205 (GRCm39) |
S343P |
probably damaging |
Het |
| D630003M21Rik |
T |
C |
2: 158,059,112 (GRCm39) |
T263A |
probably benign |
Het |
| Fbxo28 |
A |
G |
1: 182,157,526 (GRCm39) |
V97A |
possibly damaging |
Het |
| Frem2 |
C |
T |
3: 53,427,486 (GRCm39) |
V2889I |
probably damaging |
Het |
| Garnl3 |
T |
C |
2: 32,895,080 (GRCm39) |
E663G |
probably damaging |
Het |
| Gen1 |
T |
A |
12: 11,299,186 (GRCm39) |
K338M |
probably damaging |
Het |
| Gfi1 |
A |
G |
5: 107,873,819 (GRCm39) |
|
probably null |
Het |
| Gfod2 |
A |
G |
8: 106,449,653 (GRCm39) |
S95P |
probably benign |
Het |
| H2-T13 |
T |
A |
17: 36,392,382 (GRCm39) |
H31L |
unknown |
Het |
| Heatr1 |
A |
G |
13: 12,436,266 (GRCm39) |
Q1224R |
probably damaging |
Het |
| Hectd4 |
A |
G |
5: 121,437,551 (GRCm39) |
K1059E |
possibly damaging |
Het |
| Hmgcs2 |
C |
T |
3: 98,198,232 (GRCm39) |
A45V |
possibly damaging |
Het |
| Hnmt |
C |
A |
2: 23,893,655 (GRCm39) |
V280L |
probably benign |
Het |
| Ifi35 |
G |
T |
11: 101,348,091 (GRCm39) |
V66L |
probably benign |
Het |
| Kcnn2 |
T |
C |
18: 45,694,379 (GRCm39) |
I188T |
probably damaging |
Het |
| Klhl8 |
C |
A |
5: 104,012,111 (GRCm39) |
A575S |
probably benign |
Het |
| Krt6a |
T |
C |
15: 101,601,446 (GRCm39) |
D225G |
probably benign |
Het |
| Lrtm2 |
T |
C |
6: 119,294,384 (GRCm39) |
Y249C |
probably damaging |
Het |
| Med12l |
C |
T |
3: 58,984,498 (GRCm39) |
R479C |
probably damaging |
Het |
| Muc5ac |
A |
T |
7: 141,352,637 (GRCm39) |
Y709F |
possibly damaging |
Het |
| Nsd2 |
G |
A |
5: 34,028,796 (GRCm39) |
A162T |
probably damaging |
Het |
| Or6c38 |
A |
G |
10: 128,929,201 (GRCm39) |
M214T |
probably benign |
Het |
| Phaf1 |
C |
A |
8: 105,957,840 (GRCm39) |
Q49K |
probably benign |
Het |
| Polr2h |
T |
C |
16: 20,539,285 (GRCm39) |
Y90H |
possibly damaging |
Het |
| Prkaa1 |
A |
T |
15: 5,205,969 (GRCm39) |
E275V |
probably damaging |
Het |
| Prss22 |
C |
T |
17: 24,213,592 (GRCm39) |
G233E |
probably damaging |
Het |
| Rhcg |
A |
T |
7: 79,244,564 (GRCm39) |
L496* |
probably null |
Het |
| Rnf213 |
A |
G |
11: 119,318,448 (GRCm39) |
E1084G |
|
Het |
| Safb2 |
ACTTCTTCT |
ACTTCT |
17: 56,878,292 (GRCm39) |
|
probably benign |
Het |
| Slc14a1 |
T |
A |
18: 78,154,598 (GRCm39) |
I263F |
probably benign |
Het |
| Slc40a1 |
C |
T |
1: 45,948,671 (GRCm39) |
M536I |
possibly damaging |
Het |
| Slco6c1 |
T |
A |
1: 96,996,775 (GRCm39) |
|
probably null |
Het |
| Stk32a |
T |
C |
18: 43,394,405 (GRCm39) |
F118S |
probably damaging |
Het |
| Sytl1 |
G |
T |
4: 132,980,934 (GRCm39) |
R467S |
possibly damaging |
Het |
| Thbs2 |
T |
C |
17: 14,896,526 (GRCm39) |
I788V |
probably benign |
Het |
| Tmed6 |
T |
A |
8: 107,788,390 (GRCm39) |
R186* |
probably null |
Het |
| Trnau1ap |
G |
A |
4: 132,052,565 (GRCm39) |
R78C |
probably damaging |
Het |
| Trpv1 |
A |
T |
11: 73,135,039 (GRCm39) |
D412V |
possibly damaging |
Het |
| Ubr5 |
C |
A |
15: 37,997,420 (GRCm39) |
L1738F |
|
Het |
| Vmn2r89 |
A |
G |
14: 51,692,501 (GRCm39) |
I101M |
probably benign |
Het |
| Wdr27 |
C |
T |
17: 15,148,651 (GRCm39) |
R114Q |
possibly damaging |
Het |
| Wdr48 |
A |
G |
9: 119,749,730 (GRCm39) |
H563R |
possibly damaging |
Het |
| Wdr49 |
A |
C |
3: 75,205,419 (GRCm39) |
S666A |
probably benign |
Het |
| Wwox |
T |
C |
8: 115,433,110 (GRCm39) |
S259P |
probably damaging |
Het |
| Zfp160 |
T |
A |
17: 21,240,354 (GRCm39) |
D12E |
possibly damaging |
Het |
| Zfp800 |
A |
G |
6: 28,243,172 (GRCm39) |
Y598H |
probably benign |
Het |
| Zfp970 |
T |
C |
2: 177,167,536 (GRCm39) |
L370P |
probably damaging |
Het |
| Zmat5 |
A |
T |
11: 4,672,431 (GRCm39) |
D16V |
probably damaging |
Het |
|
| Other mutations in Ttc16 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00952:Ttc16
|
APN |
2 |
32,660,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02931:Ttc16
|
APN |
2 |
32,661,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03143:Ttc16
|
APN |
2 |
32,664,457 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL03206:Ttc16
|
APN |
2 |
32,661,897 (GRCm39) |
splice site |
probably null |
|
|
IGL03310:Ttc16
|
APN |
2 |
32,652,409 (GRCm39) |
unclassified |
probably benign |
|
|
P0033:Ttc16
|
UTSW |
2 |
32,652,586 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0909:Ttc16
|
UTSW |
2 |
32,652,880 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1085:Ttc16
|
UTSW |
2 |
32,665,092 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1659:Ttc16
|
UTSW |
2 |
32,652,547 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1752:Ttc16
|
UTSW |
2 |
32,662,162 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2408:Ttc16
|
UTSW |
2 |
32,658,020 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3835:Ttc16
|
UTSW |
2 |
32,659,322 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4576:Ttc16
|
UTSW |
2 |
32,660,071 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4590:Ttc16
|
UTSW |
2 |
32,663,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4630:Ttc16
|
UTSW |
2 |
32,665,389 (GRCm39) |
start gained |
probably benign |
|
|
R5081:Ttc16
|
UTSW |
2 |
32,657,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5128:Ttc16
|
UTSW |
2 |
32,653,009 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5642:Ttc16
|
UTSW |
2 |
32,665,348 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5704:Ttc16
|
UTSW |
2 |
32,659,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6384:Ttc16
|
UTSW |
2 |
32,657,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6723:Ttc16
|
UTSW |
2 |
32,658,049 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7103:Ttc16
|
UTSW |
2 |
32,664,440 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7295:Ttc16
|
UTSW |
2 |
32,664,437 (GRCm39) |
missense |
probably null |
0.02 |
|
R7570:Ttc16
|
UTSW |
2 |
32,658,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7982:Ttc16
|
UTSW |
2 |
32,665,047 (GRCm39) |
intron |
probably benign |
|
|
R8074:Ttc16
|
UTSW |
2 |
32,664,135 (GRCm39) |
unclassified |
probably benign |
|
|
R9006:Ttc16
|
UTSW |
2 |
32,652,985 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9131:Ttc16
|
UTSW |
2 |
32,659,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9264:Ttc16
|
UTSW |
2 |
32,653,017 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9322:Ttc16
|
UTSW |
2 |
32,664,952 (GRCm39) |
intron |
probably benign |
|
|
R9390:Ttc16
|
UTSW |
2 |
32,657,195 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9789:Ttc16
|
UTSW |
2 |
32,664,805 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1088:Ttc16
|
UTSW |
2 |
32,659,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGGAGGCCTATTTGCAGTAC -3'
(R):5'- AAACCCTCTCCTCAGGTTTG -3'
Sequencing Primer
(F):5'- AGTACTGCTGCGAGACAACCTG -3'
(R):5'- TTTGCACCAGAGGCTCTCG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation