Incidental Mutation 'IGL03143:Ttc16'
ID |
410765 |
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 # |
IGL03143
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
32647038-32665645 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 32664457 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 3
(D3G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124915
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066352]
[ENSMUST00000066478]
[ENSMUST00000091059]
[ENSMUST00000102813]
[ENSMUST00000125891]
[ENSMUST00000161089]
[ENSMUST00000161950]
[ENSMUST00000161430]
[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 |
possibly damaging
Transcript: ENSMUST00000066478
AA Change: D3G
PolyPhen 2
Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000068977 Gene: ENSMUSG00000039021 AA Change: D3G
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
AA Change: D60G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000088585 Gene: ENSMUSG00000039021 AA Change: D60G
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 |
noncoding transcript
Transcript: ENSMUST00000123674
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125891
AA Change: D44G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000161089
AA Change: D3G
PolyPhen 2
Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000124915 Gene: ENSMUSG00000039021 AA Change: D3G
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: ENSMUST00000161950
AA Change: D3G
PolyPhen 2
Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000123927 Gene: ENSMUSG00000039021 AA Change: D3G
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: D60G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000124031 Gene: ENSMUSG00000039021 AA Change: D60G
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: ENSMUST00000192262
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150918
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138214
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161958
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ackr2 |
T |
G |
9: 121,738,333 (GRCm39) |
L236R |
probably damaging |
Het |
Agbl1 |
C |
T |
7: 76,069,793 (GRCm39) |
Q442* |
probably null |
Het |
Ahrr |
G |
A |
13: 74,405,614 (GRCm39) |
Q108* |
probably null |
Het |
Ankrd23 |
T |
C |
1: 36,570,726 (GRCm39) |
|
probably benign |
Het |
Art5 |
A |
G |
7: 101,747,104 (GRCm39) |
I225T |
probably damaging |
Het |
Asxl3 |
T |
C |
18: 22,656,031 (GRCm39) |
V1347A |
probably benign |
Het |
Birc6 |
A |
G |
17: 74,905,994 (GRCm39) |
M1326V |
possibly damaging |
Het |
Bpifb6 |
A |
C |
2: 153,744,655 (GRCm39) |
N32T |
probably damaging |
Het |
Brip1 |
T |
A |
11: 85,952,653 (GRCm39) |
T1043S |
possibly damaging |
Het |
Cbx5 |
A |
T |
15: 103,121,532 (GRCm39) |
V35E |
probably damaging |
Het |
Ccdc175 |
T |
A |
12: 72,182,832 (GRCm39) |
M396L |
probably benign |
Het |
Ceacam3 |
G |
T |
7: 16,892,045 (GRCm39) |
E263* |
probably null |
Het |
Cyp4a12a |
A |
G |
4: 115,159,200 (GRCm39) |
T157A |
probably benign |
Het |
Dennd11 |
A |
T |
6: 40,399,828 (GRCm39) |
|
probably benign |
Het |
Derl3 |
T |
C |
10: 75,730,324 (GRCm39) |
V129A |
possibly damaging |
Het |
Dnajb1 |
T |
C |
8: 84,335,103 (GRCm39) |
I48T |
probably damaging |
Het |
Dop1b |
G |
A |
16: 93,556,543 (GRCm39) |
E349K |
probably benign |
Het |
Fkbp10 |
A |
T |
11: 100,313,580 (GRCm39) |
I285F |
probably benign |
Het |
Frrs1 |
A |
T |
3: 116,692,836 (GRCm39) |
T37S |
probably damaging |
Het |
Gata2 |
A |
G |
6: 88,181,677 (GRCm39) |
Y377C |
probably damaging |
Het |
Gm9789 |
T |
A |
16: 88,954,883 (GRCm39) |
|
probably benign |
Het |
Itpkb |
T |
A |
1: 180,160,933 (GRCm39) |
V353D |
probably benign |
Het |
Kcng4 |
T |
C |
8: 120,352,509 (GRCm39) |
E467G |
probably damaging |
Het |
Kdm3a |
A |
T |
6: 71,573,845 (GRCm39) |
I906N |
probably damaging |
Het |
Lama1 |
G |
A |
17: 68,111,531 (GRCm39) |
G2261R |
probably damaging |
Het |
Lamc1 |
A |
T |
1: 153,208,020 (GRCm39) |
L89Q |
probably benign |
Het |
Lef1 |
G |
T |
3: 130,993,965 (GRCm39) |
E314* |
probably null |
Het |
Lpin3 |
T |
C |
2: 160,745,518 (GRCm39) |
|
probably benign |
Het |
Mrtfb |
A |
G |
16: 13,218,676 (GRCm39) |
N452D |
possibly damaging |
Het |
Naaladl1 |
C |
T |
19: 6,164,896 (GRCm39) |
T628I |
possibly damaging |
Het |
Nell1 |
C |
T |
7: 49,929,281 (GRCm39) |
Q259* |
probably null |
Het |
Neu2 |
G |
T |
1: 87,524,698 (GRCm39) |
E228* |
probably null |
Het |
Or5b119 |
A |
T |
19: 13,456,835 (GRCm39) |
H242Q |
probably damaging |
Het |
Or5k15 |
A |
G |
16: 58,709,824 (GRCm39) |
F253S |
probably damaging |
Het |
Or8g21 |
T |
G |
9: 38,906,732 (GRCm39) |
|
probably benign |
Het |
Or8k20 |
T |
C |
2: 86,106,580 (GRCm39) |
N84D |
probably benign |
Het |
Osbpl6 |
T |
A |
2: 76,378,716 (GRCm39) |
D124E |
probably damaging |
Het |
Palm |
T |
C |
10: 79,652,617 (GRCm39) |
|
probably benign |
Het |
Parp8 |
C |
A |
13: 117,047,497 (GRCm39) |
|
probably benign |
Het |
Pax7 |
A |
G |
4: 139,556,798 (GRCm39) |
|
probably benign |
Het |
Pcnx3 |
G |
A |
19: 5,735,423 (GRCm39) |
R468W |
probably damaging |
Het |
Pds5b |
T |
A |
5: 150,702,722 (GRCm39) |
V818D |
probably damaging |
Het |
Piezo2 |
C |
T |
18: 63,241,147 (GRCm39) |
V694I |
probably damaging |
Het |
Plk1 |
A |
G |
7: 121,760,877 (GRCm39) |
|
probably benign |
Het |
Polb |
T |
C |
8: 23,130,367 (GRCm39) |
|
probably benign |
Het |
Rad54b |
A |
G |
4: 11,599,755 (GRCm39) |
T320A |
probably damaging |
Het |
Reg3b |
G |
A |
6: 78,349,183 (GRCm39) |
W103* |
probably null |
Het |
Slc17a3 |
T |
G |
13: 24,039,962 (GRCm39) |
|
probably null |
Het |
Snrnp200 |
C |
T |
2: 127,071,962 (GRCm39) |
|
probably benign |
Het |
Stox2 |
T |
A |
8: 47,646,839 (GRCm39) |
H207L |
possibly damaging |
Het |
Tbx15 |
A |
C |
3: 99,259,514 (GRCm39) |
M462L |
possibly damaging |
Het |
Tcirg1 |
G |
A |
19: 3,948,811 (GRCm39) |
T458I |
probably damaging |
Het |
Tnfrsf25 |
A |
G |
4: 152,201,384 (GRCm39) |
|
probably benign |
Het |
Trank1 |
A |
G |
9: 111,195,155 (GRCm39) |
K1060E |
probably damaging |
Het |
Vmn1r199 |
A |
C |
13: 22,567,299 (GRCm39) |
N155H |
probably damaging |
Het |
Vmn1r202 |
G |
A |
13: 22,685,640 (GRCm39) |
T259I |
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 |
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 |
2016-08-02 |