Incidental Mutation 'R5128:Ttc16'
ID |
394846 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ttc16
|
Ensembl Gene |
ENSMUSG00000039021 |
Gene Name |
tetratricopeptide repeat domain 16 |
Synonyms |
1200002K10Rik |
MMRRC Submission |
042716-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.103)
|
Stock # |
R5128 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
32647038-32665645 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 32653009 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 550
(I550F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123927
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009707]
[ENSMUST00000066478]
[ENSMUST00000091059]
[ENSMUST00000125891]
[ENSMUST00000161950]
[ENSMUST00000161089]
[ENSMUST00000161430]
[ENSMUST00000177382]
[ENSMUST00000175763]
[ENSMUST00000156617]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
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
AA Change: I550F
PolyPhen 2
Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000068977 Gene: ENSMUSG00000039021 AA Change: I550F
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: ENSMUST00000091059
|
SMART Domains |
Protein: ENSMUSP00000088585 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
|
631 |
644 |
N/A |
INTRINSIC |
low complexity region
|
666 |
679 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125891
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000140999
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149720
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161950
AA Change: I550F
PolyPhen 2
Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000123927 Gene: ENSMUSG00000039021 AA Change: I550F
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: ENSMUST00000161089
AA Change: I550F
PolyPhen 2
Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000124915 Gene: ENSMUSG00000039021 AA Change: I550F
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
AA Change: I607F
PolyPhen 2
Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000124031 Gene: ENSMUSG00000039021 AA Change: I607F
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 |
noncoding transcript
Transcript: ENSMUST00000149987
|
Predicted Effect |
probably benign
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000175763
|
SMART Domains |
Protein: ENSMUSP00000135701 Gene: ENSMUSG00000009563
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000156617
|
SMART Domains |
Protein: ENSMUSP00000122251 Gene: ENSMUSG00000009563
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.5%
|
Validation Efficiency |
100% (48/48) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc6 |
A |
G |
7: 45,639,070 (GRCm39) |
S958P |
probably benign |
Het |
Ahnak |
T |
C |
19: 8,994,451 (GRCm39) |
L5245P |
probably damaging |
Het |
Alg5 |
T |
A |
3: 54,649,558 (GRCm39) |
|
probably null |
Het |
Anapc1 |
A |
G |
2: 128,501,837 (GRCm39) |
V735A |
probably benign |
Het |
Arhgap45 |
A |
G |
10: 79,866,793 (GRCm39) |
T1099A |
probably benign |
Het |
Cacna1e |
A |
C |
1: 154,277,767 (GRCm39) |
S2062A |
probably damaging |
Het |
Chrna9 |
A |
G |
5: 66,128,565 (GRCm39) |
S258G |
probably benign |
Het |
Ctcfl |
T |
C |
2: 172,959,189 (GRCm39) |
E179G |
probably benign |
Het |
Dcdc2a |
C |
A |
13: 25,286,512 (GRCm39) |
A145E |
probably damaging |
Het |
Dgkz |
A |
G |
2: 91,773,028 (GRCm39) |
I343T |
probably damaging |
Het |
Dnah1 |
T |
C |
14: 31,018,152 (GRCm39) |
|
probably null |
Het |
Dqx1 |
T |
C |
6: 83,037,548 (GRCm39) |
L374P |
probably damaging |
Het |
Entpd5 |
A |
T |
12: 84,441,464 (GRCm39) |
F101L |
probably benign |
Het |
Esco1 |
A |
T |
18: 10,567,468 (GRCm39) |
|
probably benign |
Het |
Fgf1 |
C |
A |
18: 38,975,078 (GRCm39) |
V124L |
probably benign |
Het |
Gm16380 |
C |
T |
9: 53,791,397 (GRCm39) |
|
noncoding transcript |
Het |
Grid2 |
G |
A |
6: 64,642,982 (GRCm39) |
A915T |
probably benign |
Het |
Inhbc |
A |
T |
10: 127,193,611 (GRCm39) |
M135K |
probably benign |
Het |
Mertk |
C |
A |
2: 128,580,167 (GRCm39) |
T207K |
probably damaging |
Het |
Mroh9 |
C |
G |
1: 162,888,329 (GRCm39) |
G249R |
probably damaging |
Het |
Mtmr10 |
C |
T |
7: 63,983,187 (GRCm39) |
T498I |
probably damaging |
Het |
Muc17 |
A |
G |
5: 137,167,034 (GRCm39) |
|
probably null |
Het |
Nlrp1c-ps |
G |
T |
11: 71,170,421 (GRCm39) |
|
noncoding transcript |
Het |
Nphp4 |
T |
A |
4: 152,587,448 (GRCm39) |
I267N |
probably benign |
Het |
Obox8 |
A |
G |
7: 14,066,015 (GRCm39) |
W168R |
probably damaging |
Het |
Or2t48 |
A |
T |
11: 58,420,248 (GRCm39) |
V188E |
probably damaging |
Het |
Or4a74 |
A |
T |
2: 89,439,647 (GRCm39) |
D266E |
probably damaging |
Het |
Or8c8 |
T |
C |
9: 38,164,866 (GRCm39) |
L48P |
probably damaging |
Het |
Pafah1b1 |
A |
G |
11: 74,570,262 (GRCm39) |
|
probably benign |
Het |
Palld |
T |
C |
8: 62,173,622 (GRCm39) |
T346A |
probably damaging |
Het |
Pip4k2b |
A |
G |
11: 97,609,702 (GRCm39) |
S412P |
probably benign |
Het |
Potefam1 |
G |
A |
2: 110,994,674 (GRCm39) |
Q251* |
probably null |
Het |
Scn3a |
T |
C |
2: 65,338,862 (GRCm39) |
S606G |
probably benign |
Het |
Slc12a7 |
G |
T |
13: 73,953,552 (GRCm39) |
S754I |
probably benign |
Het |
Tep1 |
A |
G |
14: 51,081,736 (GRCm39) |
*489R |
probably null |
Het |
Tnn |
A |
T |
1: 159,950,464 (GRCm39) |
V714E |
probably damaging |
Het |
Trappc9 |
A |
T |
15: 72,930,242 (GRCm39) |
I38N |
probably damaging |
Het |
Vit |
T |
C |
17: 78,932,575 (GRCm39) |
S561P |
probably damaging |
Het |
Zdhhc1 |
T |
A |
8: 106,210,268 (GRCm39) |
I50F |
probably benign |
Het |
Zfp451 |
C |
T |
1: 33,842,014 (GRCm39) |
|
probably benign |
Het |
Zfp597 |
G |
A |
16: 3,689,988 (GRCm39) |
|
probably benign |
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 |
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 |
R9183:Ttc16
|
UTSW |
2 |
32,647,329 (GRCm39) |
missense |
probably benign |
0.08 |
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'- TTTGGAGTCCCTTTGGCCATAG -3'
(R):5'- CTCAGTACTGTTTGAGCAGCG -3'
Sequencing Primer
(F):5'- ACCTCAGTGGCGTTCTGGATTAG -3'
(R):5'- TGAGCAGCGTCTTGTCAC -3'
|
Posted On |
2016-06-21 |