Incidental Mutation 'R7982:Ttc16'
| ID |
651248 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttc16
|
| Ensembl Gene |
ENSMUSG00000039021 |
| Gene Name |
tetratricopeptide repeat domain 16 |
| Synonyms |
1200002K10Rik |
| MMRRC Submission |
046023-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.087)
|
| Stock # |
R7982 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
32647038-32665645 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
C to T
at 32665047 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124054
(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 benign
Transcript: ENSMUST00000066478
|
| SMART Domains |
Protein: ENSMUSP00000068977
Gene: ENSMUSG00000039021
| 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
|
| SMART Domains |
Protein: ENSMUSP00000088585
Gene: ENSMUSG00000039021
| 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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161089
|
| SMART Domains |
Protein: ENSMUSP00000124915
Gene: ENSMUSG00000039021
| 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
|
| SMART Domains |
Protein: ENSMUSP00000124031
Gene: ENSMUSG00000039021
| 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 benign
Transcript: ENSMUST00000161950
|
| SMART Domains |
Protein: ENSMUSP00000123927
Gene: ENSMUSG00000039021
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb6 |
A |
G |
1: 75,150,284 (GRCm39) |
S625P |
probably damaging |
Het |
| Actl6b |
A |
G |
5: 137,561,424 (GRCm39) |
N142S |
probably benign |
Het |
| Ank1 |
A |
T |
8: 23,609,397 (GRCm39) |
D1363V |
probably damaging |
Het |
| Aox4 |
A |
C |
1: 58,296,400 (GRCm39) |
L1032F |
possibly damaging |
Het |
| Atosb |
T |
C |
4: 43,034,483 (GRCm39) |
T371A |
probably damaging |
Het |
| Bcl2l15 |
T |
C |
3: 103,740,158 (GRCm39) |
M4T |
probably damaging |
Het |
| Cand1 |
A |
T |
10: 119,052,378 (GRCm39) |
S242R |
probably damaging |
Het |
| Cant1 |
A |
T |
11: 118,300,968 (GRCm39) |
V229D |
probably benign |
Het |
| Ccdc117 |
A |
G |
11: 5,481,460 (GRCm39) |
S224P |
possibly damaging |
Het |
| Cdc42ep4 |
T |
C |
11: 113,619,402 (GRCm39) |
R330G |
possibly damaging |
Het |
| Cep164 |
T |
C |
9: 45,690,162 (GRCm39) |
E527G |
probably benign |
Het |
| Cfap58 |
A |
G |
19: 47,963,006 (GRCm39) |
D472G |
probably benign |
Het |
| Cln6 |
A |
C |
9: 62,756,450 (GRCm39) |
K198T |
possibly damaging |
Het |
| Col4a4 |
G |
A |
1: 82,549,162 (GRCm39) |
|
probably benign |
Het |
| Cyp1b1 |
T |
C |
17: 80,017,919 (GRCm39) |
Y412C |
probably damaging |
Het |
| Dhx30 |
A |
T |
9: 109,914,524 (GRCm39) |
L991Q |
probably damaging |
Het |
| Dst |
C |
T |
1: 34,221,621 (GRCm39) |
T2475I |
possibly damaging |
Het |
| Exoc8 |
A |
T |
8: 125,623,149 (GRCm39) |
V406E |
probably damaging |
Het |
| Grk6 |
T |
A |
13: 55,599,519 (GRCm39) |
C201S |
probably damaging |
Het |
| Helz |
T |
C |
11: 107,517,456 (GRCm39) |
V664A |
possibly damaging |
Het |
| Hsd17b11 |
A |
G |
5: 104,151,090 (GRCm39) |
C215R |
possibly damaging |
Het |
| Ift25 |
T |
C |
4: 107,132,480 (GRCm39) |
V89A |
probably benign |
Het |
| Kbtbd12 |
T |
C |
6: 88,595,616 (GRCm39) |
I71M |
possibly damaging |
Het |
| Khdc1a |
A |
T |
1: 21,421,130 (GRCm39) |
H105L |
probably benign |
Het |
| Klf6 |
T |
A |
13: 5,911,822 (GRCm39) |
L62Q |
probably damaging |
Het |
| Mc1r |
A |
G |
8: 124,134,879 (GRCm39) |
R211G |
probably damaging |
Het |
| Nt5m |
T |
A |
11: 59,739,157 (GRCm39) |
W68R |
possibly damaging |
Het |
| Nufip1 |
T |
C |
14: 76,363,679 (GRCm39) |
V301A |
probably benign |
Het |
| Or10ac1 |
T |
A |
6: 42,515,225 (GRCm39) |
T244S |
probably damaging |
Het |
| Or12d14-ps1 |
T |
G |
17: 37,673,502 (GRCm39) |
F165V |
probably damaging |
Het |
| Or2b7 |
T |
C |
13: 21,740,136 (GRCm39) |
N19D |
probably benign |
Het |
| Or51f5 |
A |
T |
7: 102,424,310 (GRCm39) |
D193V |
probably damaging |
Het |
| Or5ac25 |
A |
G |
16: 59,181,927 (GRCm39) |
I218T |
probably benign |
Het |
| Ostn |
T |
C |
16: 27,140,189 (GRCm39) |
|
probably null |
Het |
| Pcdhb6 |
C |
T |
18: 37,467,273 (GRCm39) |
R65* |
probably null |
Het |
| Pds5b |
T |
C |
5: 150,693,406 (GRCm39) |
I706T |
probably damaging |
Het |
| Pgm2 |
T |
G |
5: 64,258,302 (GRCm39) |
Y96D |
probably damaging |
Het |
| Pkd1l2 |
G |
A |
8: 117,777,926 (GRCm39) |
T875I |
possibly damaging |
Het |
| Poc1b |
A |
G |
10: 99,000,764 (GRCm39) |
S355G |
probably benign |
Het |
| Ppp6r1 |
A |
C |
7: 4,646,157 (GRCm39) |
D181E |
probably benign |
Het |
| Pstpip2 |
G |
A |
18: 77,967,073 (GRCm39) |
V325M |
probably benign |
Het |
| Rras2 |
A |
T |
7: 113,658,186 (GRCm39) |
V92D |
probably damaging |
Het |
| Rsf1 |
CGGC |
CGGCGGCGGGGGC |
7: 97,229,139 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
GTCTTCTTCTTCTTCTTC |
GTCTTCTTCTTCTTC |
2: 112,499,594 (GRCm39) |
|
probably benign |
Het |
| Stac2 |
T |
A |
11: 97,933,379 (GRCm39) |
M188L |
probably benign |
Het |
| Synrg |
G |
A |
11: 83,910,644 (GRCm39) |
D859N |
probably damaging |
Het |
| Tarbp1 |
A |
T |
8: 127,171,040 (GRCm39) |
S987T |
probably damaging |
Het |
| Tbx20 |
C |
A |
9: 24,685,220 (GRCm39) |
|
probably benign |
Het |
| Trim30d |
G |
T |
7: 104,121,817 (GRCm39) |
N309K |
possibly damaging |
Het |
| Ttc34 |
T |
A |
4: 154,945,875 (GRCm39) |
I303N |
possibly damaging |
Het |
| Ubr4 |
T |
C |
4: 139,155,519 (GRCm39) |
|
probably null |
Het |
| Uros |
A |
T |
7: 133,294,278 (GRCm39) |
S168T |
unknown |
Het |
| Vmn2r6 |
C |
T |
3: 64,467,241 (GRCm39) |
G86D |
probably damaging |
Het |
| Ybx2 |
C |
T |
11: 69,831,448 (GRCm39) |
T295I |
possibly damaging |
Het |
| Zbed5 |
T |
A |
5: 129,929,321 (GRCm39) |
C146S |
possibly damaging |
Het |
| Zcchc2 |
G |
A |
1: 105,958,901 (GRCm39) |
C1124Y |
probably damaging |
Het |
| Zfp626 |
G |
A |
7: 27,510,175 (GRCm39) |
|
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 |
|
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 |
|
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'- ACACTCGTCAGGTCACATTG -3'
(R):5'- AAGAGCCAGTCAAGCCCTTC -3'
Sequencing Primer
(F):5'- CTCGTCAGGTCACATTGAGCAAG -3'
(R):5'- AGAGGTCAGAGGTCATCATTTG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation