Incidental Mutation 'IGL03310:Ttc16'
ID |
416519 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ttc16
|
Ensembl Gene |
ENSMUSG00000039021 |
Gene Name |
tetratricopeptide repeat domain 16 |
Synonyms |
1200002K10Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.103)
|
Stock # |
IGL03310
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
32647038-32665645 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
T to C
at 32652409 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134968
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009707]
[ENSMUST00000066478]
[ENSMUST00000091059]
[ENSMUST00000125891]
[ENSMUST00000161950]
[ENSMUST00000161089]
[ENSMUST00000161430]
[ENSMUST00000177382]
[ENSMUST00000156617]
[ENSMUST00000175763]
|
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 |
unknown
Transcript: ENSMUST00000066478
AA Change: T750A
|
SMART Domains |
Protein: ENSMUSP00000068977 Gene: ENSMUSG00000039021 AA Change: T750A
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 |
noncoding transcript
Transcript: ENSMUST00000123624
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125891
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000140999
|
Predicted Effect |
unknown
Transcript: ENSMUST00000161950
AA Change: T750A
|
SMART Domains |
Protein: ENSMUSP00000123927 Gene: ENSMUSG00000039021 AA Change: T750A
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 |
unknown
Transcript: ENSMUST00000161089
AA Change: T750A
|
SMART Domains |
Protein: ENSMUSP00000124915 Gene: ENSMUSG00000039021 AA Change: T750A
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 |
unknown
Transcript: ENSMUST00000161430
AA Change: T807A
|
SMART Domains |
Protein: ENSMUSP00000124031 Gene: ENSMUSG00000039021 AA Change: T807A
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 |
noncoding transcript
Transcript: ENSMUST00000149720
|
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: 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: ENSMUST00000175763
|
SMART Domains |
Protein: ENSMUSP00000135701 Gene: ENSMUSG00000009563
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam10 |
C |
T |
9: 70,685,371 (GRCm39) |
R749C |
probably damaging |
Het |
Atp9a |
A |
G |
2: 168,481,879 (GRCm39) |
F872L |
probably damaging |
Het |
Cacna1e |
A |
C |
1: 154,317,997 (GRCm39) |
Y1462D |
probably damaging |
Het |
Ccna1 |
T |
C |
3: 54,958,041 (GRCm39) |
T7A |
probably benign |
Het |
Ces1d |
A |
G |
8: 93,901,816 (GRCm39) |
|
probably benign |
Het |
Cmtm8 |
A |
T |
9: 114,619,794 (GRCm39) |
V117D |
probably benign |
Het |
Cnot1 |
A |
G |
8: 96,462,308 (GRCm39) |
|
probably benign |
Het |
Col24a1 |
A |
T |
3: 145,019,744 (GRCm39) |
|
probably benign |
Het |
Crispld1 |
T |
C |
1: 17,815,701 (GRCm39) |
|
probably benign |
Het |
Dnaja2 |
A |
T |
8: 86,275,534 (GRCm39) |
N140K |
probably benign |
Het |
Fktn |
A |
T |
4: 53,720,120 (GRCm39) |
K6* |
probably null |
Het |
Fryl |
C |
A |
5: 73,293,659 (GRCm39) |
|
probably benign |
Het |
Gm5117 |
T |
A |
8: 32,228,836 (GRCm39) |
|
noncoding transcript |
Het |
Gucy2c |
A |
C |
6: 136,728,044 (GRCm39) |
S319R |
probably benign |
Het |
Helz2 |
G |
A |
2: 180,873,597 (GRCm39) |
A2299V |
probably benign |
Het |
Hivep2 |
T |
C |
10: 14,019,411 (GRCm39) |
S2061P |
probably damaging |
Het |
Irx4 |
A |
G |
13: 73,415,850 (GRCm39) |
N213S |
possibly damaging |
Het |
Mark3 |
A |
G |
12: 111,614,104 (GRCm39) |
T649A |
probably benign |
Het |
Nav3 |
C |
T |
10: 109,660,433 (GRCm39) |
|
probably null |
Het |
Npr1 |
C |
T |
3: 90,363,298 (GRCm39) |
E861K |
probably benign |
Het |
Or52a5 |
A |
C |
7: 103,426,634 (GRCm39) |
V306G |
probably benign |
Het |
Or5a3 |
T |
C |
19: 12,400,291 (GRCm39) |
V206A |
probably benign |
Het |
Pcdhb10 |
C |
T |
18: 37,545,374 (GRCm39) |
T150I |
probably damaging |
Het |
Sdk2 |
A |
G |
11: 113,684,151 (GRCm39) |
C2009R |
possibly damaging |
Het |
Trgv7 |
A |
G |
13: 19,362,664 (GRCm39) |
|
probably benign |
Het |
Ttc39b |
T |
A |
4: 83,165,896 (GRCm39) |
Y230F |
probably benign |
Het |
Ubr1 |
A |
T |
2: 120,694,898 (GRCm39) |
I1678N |
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 |
|
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 |
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 |
|
Posted On |
2016-08-02 |