Incidental Mutation 'R3835:Ttc16'
ID |
275570 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ttc16
|
Ensembl Gene |
ENSMUSG00000039021 |
Gene Name |
tetratricopeptide repeat domain 16 |
Synonyms |
1200002K10Rik |
MMRRC Submission |
040890-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.103)
|
Stock # |
R3835 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
32647038-32665645 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 32659322 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 259
(D259G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124915
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066478]
[ENSMUST00000091059]
[ENSMUST00000125891]
[ENSMUST00000161089]
[ENSMUST00000161430]
[ENSMUST00000161950]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000066478
AA Change: D259G
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000068977 Gene: ENSMUSG00000039021 AA Change: D259G
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 |
possibly damaging
Transcript: ENSMUST00000091059
AA Change: D316G
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000088585 Gene: ENSMUSG00000039021 AA Change: D316G
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: ENSMUST00000123674
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125891
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000161089
AA Change: D259G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000124915 Gene: ENSMUSG00000039021 AA Change: D259G
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 damaging
Transcript: ENSMUST00000161430
AA Change: D316G
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000124031 Gene: ENSMUSG00000039021 AA Change: D316G
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 damaging
Transcript: ENSMUST00000161950
AA Change: D259G
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000123927 Gene: ENSMUSG00000039021 AA Change: D259G
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 |
|
Meta Mutation Damage Score |
0.2134 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
98% (43/44) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrl4 |
T |
C |
3: 151,216,254 (GRCm39) |
I479T |
probably damaging |
Het |
Adh6a |
G |
A |
3: 138,033,275 (GRCm39) |
|
probably null |
Het |
Anapc7 |
A |
G |
5: 122,581,940 (GRCm39) |
T528A |
possibly damaging |
Het |
Ap5b1 |
A |
G |
19: 5,618,918 (GRCm39) |
T113A |
possibly damaging |
Het |
Apaf1 |
G |
A |
10: 90,895,449 (GRCm39) |
R439C |
probably benign |
Het |
Apoa5 |
A |
T |
9: 46,181,878 (GRCm39) |
H318L |
probably damaging |
Het |
Bltp2 |
A |
G |
11: 78,169,911 (GRCm39) |
R1545G |
probably benign |
Het |
Btnl9 |
T |
G |
11: 49,071,512 (GRCm39) |
T104P |
probably damaging |
Het |
Cimip3 |
AC |
A |
17: 47,744,348 (GRCm39) |
|
probably benign |
Het |
Dennd5a |
T |
C |
7: 109,533,449 (GRCm39) |
K107R |
probably benign |
Het |
Dthd1 |
A |
T |
5: 63,007,128 (GRCm39) |
R610W |
probably damaging |
Het |
Eno1 |
T |
C |
4: 150,331,119 (GRCm39) |
S186P |
probably benign |
Het |
Gipc2 |
C |
A |
3: 151,833,823 (GRCm39) |
V153F |
probably damaging |
Het |
Gpt |
A |
G |
15: 76,582,783 (GRCm39) |
Y295C |
probably damaging |
Het |
Kcnh5 |
T |
A |
12: 74,945,044 (GRCm39) |
Q735L |
probably benign |
Het |
Lrrc10 |
A |
G |
10: 116,881,691 (GRCm39) |
N122D |
possibly damaging |
Het |
Lrrc37 |
C |
A |
11: 103,510,836 (GRCm39) |
L377F |
unknown |
Het |
Meis2 |
T |
C |
2: 115,752,228 (GRCm39) |
H301R |
probably damaging |
Het |
Muc5b |
A |
T |
7: 141,412,918 (GRCm39) |
I1955F |
unknown |
Het |
Nalcn |
A |
T |
14: 123,530,834 (GRCm39) |
|
probably benign |
Het |
Nmt2 |
T |
C |
2: 3,315,723 (GRCm39) |
|
probably benign |
Het |
Nnt |
C |
T |
13: 119,509,031 (GRCm39) |
G403R |
probably damaging |
Het |
Or4a79 |
T |
G |
2: 89,551,799 (GRCm39) |
I219L |
possibly damaging |
Het |
Or4d6 |
T |
A |
19: 12,086,764 (GRCm39) |
I49F |
possibly damaging |
Het |
Or5b109 |
A |
T |
19: 13,212,103 (GRCm39) |
D163V |
probably benign |
Het |
Ovgp1 |
A |
G |
3: 105,893,631 (GRCm39) |
E468G |
probably benign |
Het |
Pax6 |
G |
A |
2: 105,526,795 (GRCm39) |
E234K |
probably benign |
Het |
Prkdc |
A |
G |
16: 15,609,810 (GRCm39) |
E3138G |
probably damaging |
Het |
Prmt6 |
T |
C |
3: 110,158,121 (GRCm39) |
D56G |
possibly damaging |
Het |
Ptprt |
A |
G |
2: 161,389,307 (GRCm39) |
V1261A |
probably damaging |
Het |
Qtrt2 |
A |
G |
16: 43,701,435 (GRCm39) |
S42P |
probably damaging |
Het |
Rab9b |
C |
T |
X: 135,762,259 (GRCm39) |
R47Q |
possibly damaging |
Het |
Rpgrip1 |
A |
G |
14: 52,384,710 (GRCm39) |
E606G |
probably damaging |
Het |
Setx |
C |
T |
2: 29,035,072 (GRCm39) |
S519L |
possibly damaging |
Het |
Slc15a2 |
A |
T |
16: 36,592,490 (GRCm39) |
C191* |
probably null |
Het |
Snrk |
T |
C |
9: 121,966,069 (GRCm39) |
|
probably benign |
Het |
St6galnac1 |
T |
C |
11: 116,657,109 (GRCm39) |
D422G |
probably damaging |
Het |
Stag1 |
C |
T |
9: 100,620,035 (GRCm39) |
T46I |
probably damaging |
Het |
Tagln |
T |
C |
9: 45,843,008 (GRCm39) |
I18V |
probably benign |
Het |
Tasor2 |
T |
C |
13: 3,625,292 (GRCm39) |
T1553A |
probably benign |
Het |
Tbx18 |
C |
A |
9: 87,611,689 (GRCm39) |
A114S |
probably benign |
Het |
Vldlr |
A |
G |
19: 27,212,214 (GRCm39) |
D76G |
probably damaging |
Het |
Vmn2r24 |
G |
T |
6: 123,764,412 (GRCm39) |
D430Y |
probably benign |
Het |
Xlr3a |
T |
C |
X: 72,138,644 (GRCm39) |
E5G |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GTTGATGTACAAGCCCTTCTCATTC -3'
(R):5'- TAGCAATCTCAGGCCAGCTC -3'
Sequencing Primer
(F):5'- ATTCTGCTCGTCTCTGATAGC -3'
(R):5'- CTCCAGAGGACAGATCTAGGGTTTG -3'
|
Posted On |
2015-04-06 |