Incidental Mutation 'IGL00952:Ttc16'
ID |
26954 |
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 # |
IGL00952
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
32647038-32665645 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 32660259 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 183
(D183G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123927
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066478]
[ENSMUST00000091059]
[ENSMUST00000125891]
[ENSMUST00000161089]
[ENSMUST00000161430]
[ENSMUST00000161950]
[ENSMUST00000161958]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000066478
AA Change: D183G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000068977 Gene: ENSMUSG00000039021 AA Change: D183G
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: ENSMUST00000091059
AA Change: D240G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000088585 Gene: ENSMUSG00000039021 AA Change: D240G
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: D183G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000124915 Gene: ENSMUSG00000039021 AA Change: D183G
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: D240G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000124031 Gene: ENSMUSG00000039021 AA Change: D240G
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: D183G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000123927 Gene: ENSMUSG00000039021 AA Change: D183G
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
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810009J06Rik |
T |
G |
6: 40,941,733 (GRCm39) |
I4S |
probably benign |
Het |
Abca8b |
A |
G |
11: 109,859,886 (GRCm39) |
|
probably null |
Het |
Aftph |
A |
T |
11: 20,677,483 (GRCm39) |
V42E |
probably damaging |
Het |
AI467606 |
A |
G |
7: 126,691,874 (GRCm39) |
S150G |
probably damaging |
Het |
Art4 |
T |
C |
6: 136,831,818 (GRCm39) |
N108D |
possibly damaging |
Het |
B9d1 |
G |
A |
11: 61,403,504 (GRCm39) |
V167I |
possibly damaging |
Het |
Ccdc47 |
A |
T |
11: 106,094,358 (GRCm39) |
|
probably null |
Het |
Ccdc96 |
T |
A |
5: 36,642,424 (GRCm39) |
|
probably benign |
Het |
Cfap44 |
A |
G |
16: 44,241,638 (GRCm39) |
I670V |
probably benign |
Het |
Col18a1 |
T |
G |
10: 76,905,813 (GRCm39) |
K909Q |
possibly damaging |
Het |
Col8a2 |
A |
G |
4: 126,203,584 (GRCm39) |
Y59C |
probably damaging |
Het |
Coro6 |
A |
T |
11: 77,359,291 (GRCm39) |
D288V |
probably damaging |
Het |
Cul4a |
C |
T |
8: 13,196,562 (GRCm39) |
L739F |
probably damaging |
Het |
Dmxl2 |
C |
T |
9: 54,324,166 (GRCm39) |
V1073I |
probably damaging |
Het |
Dnah11 |
T |
C |
12: 118,160,386 (GRCm39) |
T115A |
possibly damaging |
Het |
Fdx2 |
A |
G |
9: 20,984,558 (GRCm39) |
|
probably null |
Het |
Flnc |
C |
T |
6: 29,459,546 (GRCm39) |
Q2549* |
probably null |
Het |
Foxn2 |
T |
C |
17: 88,783,308 (GRCm39) |
C188R |
probably benign |
Het |
Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
Ilf3 |
T |
C |
9: 21,307,347 (GRCm39) |
L343P |
probably damaging |
Het |
Itgb2l |
C |
T |
16: 96,227,950 (GRCm39) |
G518S |
probably damaging |
Het |
Itpr2 |
T |
A |
6: 146,060,459 (GRCm39) |
I2486F |
probably damaging |
Het |
Kat2a |
A |
G |
11: 100,596,977 (GRCm39) |
V681A |
probably damaging |
Het |
Kif17 |
A |
G |
4: 137,990,019 (GRCm39) |
N69S |
possibly damaging |
Het |
Kif26b |
G |
A |
1: 178,759,770 (GRCm39) |
D2106N |
probably damaging |
Het |
Klf6 |
A |
G |
13: 5,911,680 (GRCm39) |
T15A |
probably benign |
Het |
Lyst |
A |
G |
13: 13,852,692 (GRCm39) |
T2231A |
probably benign |
Het |
Mark4 |
T |
C |
7: 19,165,749 (GRCm39) |
T515A |
possibly damaging |
Het |
Mast3 |
A |
T |
8: 71,233,327 (GRCm39) |
|
probably benign |
Het |
Nalcn |
T |
C |
14: 123,586,201 (GRCm39) |
K722R |
probably benign |
Het |
Ncf2 |
G |
A |
1: 152,711,857 (GRCm39) |
E524K |
probably benign |
Het |
Or56a3b |
A |
G |
7: 104,771,614 (GRCm39) |
|
probably null |
Het |
Or5p81 |
A |
G |
7: 108,267,445 (GRCm39) |
N274S |
possibly damaging |
Het |
Or5w12 |
A |
T |
2: 87,502,159 (GRCm39) |
I184N |
probably damaging |
Het |
Or8c17 |
A |
T |
9: 38,179,801 (GRCm39) |
|
probably benign |
Het |
Plcg2 |
A |
T |
8: 118,333,956 (GRCm39) |
M910L |
probably benign |
Het |
Pramel14 |
T |
C |
4: 143,719,894 (GRCm39) |
H157R |
probably benign |
Het |
Rai1 |
A |
T |
11: 60,078,818 (GRCm39) |
K961* |
probably null |
Het |
Rsph14 |
T |
C |
10: 74,865,601 (GRCm39) |
D112G |
probably benign |
Het |
Sgo1 |
T |
A |
17: 53,994,275 (GRCm39) |
D59V |
probably damaging |
Het |
Slc22a29 |
A |
T |
19: 8,195,221 (GRCm39) |
V138E |
probably damaging |
Het |
Slc9a1 |
T |
A |
4: 133,143,693 (GRCm39) |
V393D |
probably damaging |
Het |
Smg6 |
A |
G |
11: 74,819,974 (GRCm39) |
R82G |
probably benign |
Het |
Sppl3 |
T |
C |
5: 115,212,935 (GRCm39) |
S55P |
probably benign |
Het |
Srsf12 |
A |
C |
4: 33,226,103 (GRCm39) |
Q122P |
possibly damaging |
Het |
Tas1r2 |
T |
C |
4: 139,382,563 (GRCm39) |
M67T |
probably benign |
Het |
Thnsl1 |
G |
A |
2: 21,216,767 (GRCm39) |
V174I |
possibly damaging |
Het |
Thumpd1 |
A |
G |
7: 119,316,232 (GRCm39) |
V239A |
possibly damaging |
Het |
Tnxb |
T |
G |
17: 34,932,102 (GRCm39) |
Y2212D |
probably damaging |
Het |
Trim40 |
T |
C |
17: 37,193,289 (GRCm39) |
*213W |
probably null |
Het |
|
Other mutations in Ttc16 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2013-04-17 |