Incidental Mutation 'IGL02931:Ttc16'
ID |
364101 |
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 # |
IGL02931
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
32647038-32665645 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 32661939 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 164
(Y164H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123927
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066352]
[ENSMUST00000066478]
[ENSMUST00000091059]
[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 |
probably damaging
Transcript: ENSMUST00000066478
AA Change: Y164H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000068977 Gene: ENSMUSG00000039021 AA Change: Y164H
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: Y221H
PolyPhen 2
Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000088585 Gene: ENSMUSG00000039021 AA Change: Y221H
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 |
noncoding transcript
Transcript: ENSMUST00000138214
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000161089
AA Change: Y164H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000124915 Gene: ENSMUSG00000039021 AA Change: Y164H
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: ENSMUST00000161950
AA Change: Y164H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000123927 Gene: ENSMUSG00000039021 AA Change: Y164H
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: Y221H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000124031 Gene: ENSMUSG00000039021 AA Change: Y221H
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 |
probably benign
Transcript: ENSMUST00000161958
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy1 |
G |
A |
11: 7,029,012 (GRCm39) |
R254Q |
probably benign |
Het |
Adgrv1 |
T |
C |
13: 81,727,833 (GRCm39) |
Y269C |
probably damaging |
Het |
Apol7a |
C |
A |
15: 77,277,650 (GRCm39) |
E33* |
probably null |
Het |
Arhgap29 |
T |
C |
3: 121,786,509 (GRCm39) |
V358A |
probably benign |
Het |
B3galt1 |
T |
C |
2: 67,948,728 (GRCm39) |
S148P |
probably damaging |
Het |
BC061237 |
A |
G |
14: 44,740,779 (GRCm39) |
N60D |
possibly damaging |
Het |
Bcl9l |
C |
T |
9: 44,412,047 (GRCm39) |
P11L |
probably damaging |
Het |
Ccdc89 |
A |
C |
7: 90,076,110 (GRCm39) |
K107Q |
probably benign |
Het |
Col27a1 |
T |
C |
4: 63,249,663 (GRCm39) |
|
probably benign |
Het |
Col5a2 |
T |
C |
1: 45,424,225 (GRCm39) |
D1067G |
probably damaging |
Het |
Col9a2 |
A |
T |
4: 120,910,389 (GRCm39) |
R511S |
probably benign |
Het |
Disp3 |
G |
A |
4: 148,333,658 (GRCm39) |
S1060F |
possibly damaging |
Het |
Dusp8 |
T |
C |
7: 141,636,667 (GRCm39) |
T308A |
probably benign |
Het |
Ern1 |
T |
C |
11: 106,314,266 (GRCm39) |
N178S |
probably damaging |
Het |
Gas6 |
C |
A |
8: 13,527,136 (GRCm39) |
C204F |
probably damaging |
Het |
Gga1 |
T |
C |
15: 78,777,522 (GRCm39) |
S558P |
possibly damaging |
Het |
Gli1 |
T |
C |
10: 127,168,279 (GRCm39) |
T525A |
probably benign |
Het |
Gse1 |
A |
G |
8: 121,304,808 (GRCm39) |
|
probably benign |
Het |
Hmcn1 |
G |
A |
1: 150,532,958 (GRCm39) |
S3075L |
probably benign |
Het |
Hnf4a |
G |
A |
2: 163,408,037 (GRCm39) |
|
probably benign |
Het |
Htt |
A |
T |
5: 35,034,097 (GRCm39) |
E1894D |
probably damaging |
Het |
Kcnh8 |
G |
A |
17: 53,263,650 (GRCm39) |
E716K |
probably benign |
Het |
Kntc1 |
A |
G |
5: 123,937,874 (GRCm39) |
Y1524C |
probably damaging |
Het |
Krtap9-5 |
A |
G |
11: 99,839,931 (GRCm39) |
T211A |
unknown |
Het |
Lin54 |
T |
C |
5: 100,628,180 (GRCm39) |
I8V |
possibly damaging |
Het |
Lipe |
A |
G |
7: 25,082,760 (GRCm39) |
|
probably benign |
Het |
Lpin2 |
T |
A |
17: 71,545,678 (GRCm39) |
V508E |
probably damaging |
Het |
Lrrc9 |
C |
A |
12: 72,500,923 (GRCm39) |
H216Q |
probably damaging |
Het |
Lrrn1 |
T |
C |
6: 107,544,709 (GRCm39) |
L169P |
probably damaging |
Het |
Map9 |
C |
A |
3: 82,284,428 (GRCm39) |
T334K |
possibly damaging |
Het |
Msantd5f1 |
G |
A |
4: 73,605,602 (GRCm39) |
A338T |
probably damaging |
Het |
Mst1 |
A |
T |
9: 107,961,841 (GRCm39) |
|
probably null |
Het |
Mtor |
T |
A |
4: 148,549,421 (GRCm39) |
F602I |
probably benign |
Het |
Mylpf |
T |
A |
7: 126,812,798 (GRCm39) |
D98E |
probably benign |
Het |
Naca |
C |
A |
10: 127,883,551 (GRCm39) |
Q2059K |
probably damaging |
Het |
Nefh |
G |
A |
11: 4,891,356 (GRCm39) |
T421I |
possibly damaging |
Het |
Nlrp4g |
T |
A |
9: 124,348,940 (GRCm38) |
|
noncoding transcript |
Het |
Npat |
C |
T |
9: 53,482,341 (GRCm39) |
Q1350* |
probably null |
Het |
Oaz3 |
T |
C |
3: 94,342,287 (GRCm39) |
N123S |
probably benign |
Het |
Patj |
A |
G |
4: 98,299,410 (GRCm39) |
|
probably benign |
Het |
Pgap6 |
T |
A |
17: 26,336,923 (GRCm39) |
F280L |
probably benign |
Het |
Piezo1 |
A |
C |
8: 123,210,258 (GRCm39) |
D2224E |
probably damaging |
Het |
Pnpla7 |
A |
T |
2: 24,905,241 (GRCm39) |
I610F |
possibly damaging |
Het |
Psapl1 |
A |
T |
5: 36,362,233 (GRCm39) |
D275V |
probably damaging |
Het |
Ptpdc1 |
T |
A |
13: 48,744,095 (GRCm39) |
|
probably benign |
Het |
Rac2 |
T |
C |
15: 78,454,947 (GRCm39) |
E31G |
possibly damaging |
Het |
Sdhc |
T |
C |
1: 170,971,124 (GRCm39) |
|
probably benign |
Het |
Smim23 |
G |
T |
11: 32,770,667 (GRCm39) |
P80T |
probably damaging |
Het |
Snupn |
C |
T |
9: 56,864,364 (GRCm39) |
T21I |
probably benign |
Het |
Tjp2 |
A |
G |
19: 24,073,996 (GRCm39) |
V1097A |
probably benign |
Het |
Txlnb |
A |
G |
10: 17,703,730 (GRCm39) |
E296G |
probably damaging |
Het |
Ube2l6 |
G |
A |
2: 84,633,195 (GRCm39) |
V34M |
probably damaging |
Het |
Vwf |
A |
C |
6: 125,592,931 (GRCm39) |
S764R |
possibly damaging |
Het |
Zfand3 |
A |
G |
17: 30,411,611 (GRCm39) |
S146G |
probably benign |
Het |
Zfp280d |
T |
G |
9: 72,203,307 (GRCm39) |
F18L |
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 |
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 |
2015-12-18 |