Incidental Mutation 'R7295:Ttc16'
ID |
566647 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ttc16
|
Ensembl Gene |
ENSMUSG00000039021 |
Gene Name |
tetratricopeptide repeat domain 16 |
Synonyms |
1200002K10Rik |
MMRRC Submission |
045363-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.103)
|
Stock # |
R7295 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
32647038-32665645 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 32664437 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 67
(I67V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124031
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066352]
[ENSMUST00000066478]
[ENSMUST00000091059]
[ENSMUST00000102813]
[ENSMUST00000125891]
[ENSMUST00000161089]
[ENSMUST00000161430]
[ENSMUST00000161950]
[ENSMUST00000161958]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000066352
|
SMART Domains |
Protein: ENSMUSP00000068850 Gene: ENSMUSG00000053746
Domain | Start | End | E-Value | Type |
Pfam:Pept_tRNA_hydro
|
22 |
200 |
6.3e-39 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000066478
AA Change: I10V
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000068977 Gene: ENSMUSG00000039021 AA Change: I10V
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 null
Transcript: ENSMUST00000091059
AA Change: I67V
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000088585 Gene: ENSMUSG00000039021 AA Change: I67V
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: ENSMUST00000102813
|
SMART Domains |
Protein: ENSMUSP00000099877 Gene: ENSMUSG00000038987
Domain | Start | End | E-Value | Type |
coiled coil region
|
32 |
191 |
N/A |
INTRINSIC |
coiled coil region
|
301 |
371 |
N/A |
INTRINSIC |
low complexity region
|
402 |
416 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125891
AA Change: I51V
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
Predicted Effect |
probably null
Transcript: ENSMUST00000161089
AA Change: I10V
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000124915 Gene: ENSMUSG00000039021 AA Change: I10V
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 null
Transcript: ENSMUST00000161430
AA Change: I67V
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000124031 Gene: ENSMUSG00000039021 AA Change: I67V
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 null
Transcript: ENSMUST00000161950
AA Change: I10V
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000123927 Gene: ENSMUSG00000039021 AA Change: I10V
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: ENSMUST00000161958
|
Meta Mutation Damage Score |
0.9756 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
98% (59/60) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
a |
A |
T |
2: 154,887,678 (GRCm39) |
D46V |
probably damaging |
Het |
Acp7 |
A |
T |
7: 28,328,955 (GRCm39) |
F75Y |
possibly damaging |
Het |
Adamts19 |
T |
A |
18: 58,970,955 (GRCm39) |
Y180N |
probably damaging |
Het |
Adck1 |
G |
T |
12: 88,397,815 (GRCm39) |
D150Y |
probably damaging |
Het |
Alb |
T |
A |
5: 90,610,693 (GRCm39) |
|
probably null |
Het |
Baat |
A |
T |
4: 49,490,275 (GRCm39) |
Y270N |
probably damaging |
Het |
Bmp7 |
A |
T |
2: 172,781,690 (GRCm39) |
I58N |
probably damaging |
Het |
Bpifb9a |
C |
T |
2: 154,109,616 (GRCm39) |
T504M |
probably damaging |
Het |
Cbfa2t3 |
T |
G |
8: 123,364,768 (GRCm39) |
D338A |
probably benign |
Het |
Ccnd2 |
A |
T |
6: 127,125,725 (GRCm39) |
C104S |
possibly damaging |
Het |
Clip1 |
G |
T |
5: 123,765,419 (GRCm39) |
Q713K |
probably benign |
Het |
Ddx28 |
G |
A |
8: 106,737,476 (GRCm39) |
S194L |
probably benign |
Het |
Dync1h1 |
T |
C |
12: 110,631,183 (GRCm39) |
|
probably null |
Het |
Edil3 |
T |
A |
13: 89,279,902 (GRCm39) |
Y193* |
probably null |
Het |
Eprs1 |
A |
G |
1: 185,150,407 (GRCm39) |
|
probably null |
Het |
Ercc6l2 |
T |
G |
13: 63,967,589 (GRCm39) |
I63R |
probably damaging |
Het |
Fam171a2 |
T |
C |
11: 102,329,064 (GRCm39) |
E565G |
possibly damaging |
Het |
Fbn1 |
T |
A |
2: 125,177,407 (GRCm39) |
D1810V |
probably damaging |
Het |
Foxj2 |
T |
C |
6: 122,817,190 (GRCm39) |
S506P |
probably benign |
Het |
Frmpd1 |
A |
G |
4: 45,285,700 (GRCm39) |
E1507G |
probably damaging |
Het |
Gfm1 |
G |
A |
3: 67,347,514 (GRCm39) |
V258I |
probably benign |
Het |
Gphn |
T |
C |
12: 78,538,876 (GRCm39) |
V174A |
probably benign |
Het |
Gtpbp3 |
C |
A |
8: 71,942,139 (GRCm39) |
S123R |
possibly damaging |
Het |
H2bc8 |
T |
C |
13: 23,755,943 (GRCm39) |
S113P |
probably benign |
Het |
Hbs1l |
T |
C |
10: 21,186,051 (GRCm39) |
V491A |
probably benign |
Het |
Hoxc12 |
A |
G |
15: 102,846,810 (GRCm39) |
N234S |
probably damaging |
Het |
Il22b |
A |
T |
10: 118,130,848 (GRCm39) |
L16* |
probably null |
Het |
Kcnj5 |
T |
C |
9: 32,234,087 (GRCm39) |
D76G |
probably damaging |
Het |
Klhl11 |
A |
G |
11: 100,363,068 (GRCm39) |
Y163H |
probably damaging |
Het |
Lonp1 |
G |
T |
17: 56,929,495 (GRCm39) |
Q181K |
possibly damaging |
Het |
Mgst1 |
A |
T |
6: 138,124,754 (GRCm39) |
I23F |
probably benign |
Het |
Muc21 |
G |
A |
17: 35,929,761 (GRCm39) |
A1475V |
unknown |
Het |
Myocos |
T |
C |
1: 162,484,687 (GRCm39) |
R41G |
unknown |
Het |
Myod1 |
A |
G |
7: 46,027,643 (GRCm39) |
D261G |
probably benign |
Het |
Nop14 |
C |
T |
5: 34,796,376 (GRCm39) |
R781Q |
probably damaging |
Het |
Nsmaf |
A |
G |
4: 6,438,083 (GRCm39) |
V63A |
probably benign |
Het |
Ntsr1 |
A |
T |
2: 180,142,725 (GRCm39) |
H172L |
probably damaging |
Het |
Or4k6 |
T |
C |
14: 50,476,073 (GRCm39) |
K90E |
probably damaging |
Het |
Or8b1c |
A |
T |
9: 38,384,739 (GRCm39) |
E232V |
probably benign |
Het |
Pcdha11 |
T |
C |
18: 37,139,979 (GRCm39) |
V536A |
probably damaging |
Het |
Pcdha6 |
T |
A |
18: 37,101,189 (GRCm39) |
N127K |
probably damaging |
Het |
Prps1l1 |
T |
A |
12: 35,035,679 (GRCm39) |
C265S |
probably benign |
Het |
Prune2 |
A |
G |
19: 17,097,261 (GRCm39) |
S922G |
probably benign |
Het |
Qpctl |
A |
T |
7: 18,883,055 (GRCm39) |
M19K |
probably benign |
Het |
Rad51 |
C |
T |
2: 118,964,599 (GRCm39) |
T230I |
possibly damaging |
Het |
Rad9b |
A |
G |
5: 122,472,341 (GRCm39) |
F246L |
possibly damaging |
Het |
Rarb |
A |
T |
14: 16,508,932 (GRCm38) |
|
probably null |
Het |
Sdcbp2 |
T |
C |
2: 151,429,321 (GRCm39) |
S214P |
possibly damaging |
Het |
Slc22a1 |
T |
A |
17: 12,875,892 (GRCm39) |
M441L |
probably benign |
Het |
Slc35f1 |
G |
A |
10: 52,938,637 (GRCm39) |
V190I |
probably benign |
Het |
Spon1 |
A |
T |
7: 113,629,475 (GRCm39) |
Q373L |
possibly damaging |
Het |
Ssbp2 |
T |
A |
13: 91,842,122 (GRCm39) |
|
probably null |
Het |
Sult1e1 |
T |
A |
5: 87,726,512 (GRCm39) |
R201* |
probably null |
Het |
Traj32 |
T |
A |
14: 54,423,606 (GRCm39) |
L16Q |
|
Het |
Ttn |
T |
A |
2: 76,556,899 (GRCm39) |
K30035N |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,776,473 (GRCm39) |
Y1607F |
unknown |
Het |
Usp16 |
G |
A |
16: 87,268,977 (GRCm39) |
R290H |
probably benign |
Het |
Utp3 |
G |
C |
5: 88,702,376 (GRCm39) |
|
probably benign |
Het |
Xpnpep3 |
A |
G |
15: 81,298,735 (GRCm39) |
H56R |
probably damaging |
Het |
Zfp592 |
G |
T |
7: 80,674,070 (GRCm39) |
D345Y |
probably damaging |
Het |
Zfp931 |
A |
T |
2: 177,709,824 (GRCm39) |
Y187* |
probably null |
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 |
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'- TGCAAAAGCCATCAGAGCTC -3'
(R):5'- GAGGCCTTCTGAGCTTACTG -3'
Sequencing Primer
(F):5'- AGCTCTTCCAGGGCATCAG -3'
(R):5'- TGAGCTTACTGCCCCTGG -3'
|
Posted On |
2019-06-26 |