Incidental Mutation 'R9390:Ttc16'
ID |
710521 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ttc16
|
Ensembl Gene |
ENSMUSG00000039021 |
Gene Name |
tetratricopeptide repeat domain 16 |
Synonyms |
1200002K10Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.103)
|
Stock # |
R9390 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
32647038-32665645 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 32657195 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamine
at position 577
(K577Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124031
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009707]
[ENSMUST00000066478]
[ENSMUST00000091059]
[ENSMUST00000125891]
[ENSMUST00000161089]
[ENSMUST00000161430]
[ENSMUST00000161950]
[ENSMUST00000175763]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000009707
|
SMART Domains |
Protein: ENSMUSP00000009707 Gene: ENSMUSG00000009563
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
Pfam:Torsin
|
35 |
160 |
1.2e-54 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000066478
AA Change: K520Q
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000068977 Gene: ENSMUSG00000039021 AA Change: K520Q
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: K577Q
PolyPhen 2
Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000088585 Gene: ENSMUSG00000039021 AA Change: K577Q
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: ENSMUST00000125891
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000161089
AA Change: K520Q
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000124915 Gene: ENSMUSG00000039021 AA Change: K520Q
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: ENSMUST00000161430
AA Change: K577Q
PolyPhen 2
Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000124031 Gene: ENSMUSG00000039021 AA Change: K577Q
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 |
possibly damaging
Transcript: ENSMUST00000161950
AA Change: K520Q
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000123927 Gene: ENSMUSG00000039021 AA Change: K520Q
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: ENSMUST00000175763
|
SMART Domains |
Protein: ENSMUSP00000135701 Gene: ENSMUSG00000009563
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4932438H23Rik |
A |
T |
16: 90,853,096 (GRCm39) |
S13R |
probably benign |
Het |
Amn1 |
A |
T |
6: 149,084,983 (GRCm39) |
D32E |
probably damaging |
Het |
Asph |
T |
C |
4: 9,635,927 (GRCm39) |
D108G |
probably damaging |
Het |
C1rb |
T |
C |
6: 124,557,336 (GRCm39) |
L491P |
probably damaging |
Het |
Cep120 |
G |
A |
18: 53,839,984 (GRCm39) |
R759* |
probably null |
Het |
Chmp6 |
C |
T |
11: 119,806,288 (GRCm39) |
T38M |
possibly damaging |
Het |
Comtd1 |
A |
G |
14: 21,898,867 (GRCm39) |
F25S |
possibly damaging |
Het |
Dthd1 |
G |
A |
5: 62,975,904 (GRCm39) |
G193R |
possibly damaging |
Het |
Dyrk1a |
T |
A |
16: 94,474,330 (GRCm39) |
S362R |
probably damaging |
Het |
Ecm2 |
A |
G |
13: 49,683,792 (GRCm39) |
D590G |
probably benign |
Het |
Exd1 |
A |
T |
2: 119,354,180 (GRCm39) |
W293R |
probably damaging |
Het |
Fam110a |
C |
T |
2: 151,812,116 (GRCm39) |
R218Q |
probably benign |
Het |
Fga |
A |
T |
3: 82,940,610 (GRCm39) |
N755Y |
probably damaging |
Het |
Fstl4 |
C |
A |
11: 52,891,102 (GRCm39) |
T80K |
probably benign |
Het |
Gbp5 |
A |
G |
3: 142,208,783 (GRCm39) |
K109E |
probably benign |
Het |
Gucy2g |
A |
G |
19: 55,190,607 (GRCm39) |
V1009A |
probably null |
Het |
Herc6 |
C |
T |
6: 57,602,955 (GRCm39) |
Q545* |
probably null |
Het |
Hpd |
T |
A |
5: 123,318,794 (GRCm39) |
|
probably null |
Het |
Il4 |
C |
T |
11: 53,504,837 (GRCm39) |
R76H |
probably damaging |
Het |
Inpp4b |
T |
C |
8: 82,497,522 (GRCm39) |
V114A |
probably damaging |
Het |
Ints14 |
A |
G |
9: 64,891,314 (GRCm39) |
T432A |
probably benign |
Het |
Isoc1 |
G |
A |
18: 58,804,350 (GRCm39) |
R126H |
probably damaging |
Het |
Klb |
G |
T |
5: 65,533,044 (GRCm39) |
R451L |
possibly damaging |
Het |
Lrtm2 |
C |
T |
6: 119,297,948 (GRCm39) |
C31Y |
probably benign |
Het |
Mga |
C |
T |
2: 119,794,332 (GRCm39) |
S2672F |
probably damaging |
Het |
Mkrn3 |
T |
C |
7: 62,069,288 (GRCm39) |
I168V |
probably benign |
Het |
Mlph |
C |
T |
1: 90,867,088 (GRCm39) |
T370I |
probably benign |
Het |
Naaladl1 |
A |
T |
19: 6,162,725 (GRCm39) |
I478F |
probably damaging |
Het |
Neb |
A |
T |
2: 52,065,157 (GRCm39) |
H6251Q |
probably benign |
Het |
Nom1 |
C |
T |
5: 29,639,766 (GRCm39) |
R31C |
probably benign |
Het |
Nup153 |
A |
C |
13: 46,840,642 (GRCm39) |
F989V |
probably damaging |
Het |
Nup188 |
T |
C |
2: 30,220,777 (GRCm39) |
|
probably null |
Het |
Or4c12 |
T |
C |
2: 89,773,569 (GRCm39) |
K297E |
probably benign |
Het |
Or5aq6 |
A |
T |
2: 86,923,390 (GRCm39) |
M117K |
possibly damaging |
Het |
Or6c210 |
A |
G |
10: 129,495,938 (GRCm39) |
T88A |
probably benign |
Het |
Ovgp1 |
T |
C |
3: 105,893,883 (GRCm39) |
|
probably benign |
Het |
Pcare |
T |
C |
17: 72,057,983 (GRCm39) |
T565A |
probably benign |
Het |
Pcdhb4 |
T |
C |
18: 37,442,781 (GRCm39) |
V697A |
possibly damaging |
Het |
Pds5a |
G |
T |
5: 65,823,600 (GRCm39) |
Q64K |
probably benign |
Het |
Pmpcb |
T |
C |
5: 21,953,810 (GRCm39) |
F353L |
probably damaging |
Het |
Pus10 |
G |
A |
11: 23,656,937 (GRCm39) |
C221Y |
probably damaging |
Het |
Qrfp |
A |
G |
2: 31,698,749 (GRCm39) |
V61A |
possibly damaging |
Het |
Runx1t1 |
A |
G |
4: 13,865,932 (GRCm39) |
I393M |
probably benign |
Het |
Sh2d5 |
T |
G |
4: 137,985,481 (GRCm39) |
S310A |
probably benign |
Het |
Shisa9 |
A |
G |
16: 12,085,408 (GRCm39) |
E339G |
possibly damaging |
Het |
Slc26a10 |
C |
T |
10: 127,009,239 (GRCm39) |
E641K |
probably benign |
Het |
Slc5a6 |
A |
G |
5: 31,197,803 (GRCm39) |
V302A |
possibly damaging |
Het |
Tdrd7 |
T |
A |
4: 46,005,416 (GRCm39) |
D407E |
probably damaging |
Het |
Trp53 |
A |
T |
11: 69,478,394 (GRCm39) |
Q101L |
probably benign |
Het |
Tsc2 |
T |
A |
17: 24,823,824 (GRCm39) |
N994Y |
probably damaging |
Het |
Vmn1r195 |
A |
G |
13: 22,462,535 (GRCm39) |
I2V |
probably benign |
Het |
Vmn2r83 |
G |
T |
10: 79,317,322 (GRCm39) |
E522* |
probably null |
Het |
Wdr48 |
T |
A |
9: 119,746,245 (GRCm39) |
F450L |
probably benign |
Het |
Wnt9a |
G |
A |
11: 59,218,592 (GRCm39) |
E100K |
possibly damaging |
Het |
Zfp729b |
A |
T |
13: 67,739,182 (GRCm39) |
S1028T |
probably benign |
Het |
Zfp729b |
C |
T |
13: 67,742,014 (GRCm39) |
V84I |
possibly 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 |
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 |
|
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'- ATACAGCACGAGCCATCTGC -3'
(R):5'- AGCAGTTCAGATTCCAGAGACTG -3'
Sequencing Primer
(F):5'- TCTATGCTAGACAATGGAAAGACC -3'
(R):5'- TTCCAGAGACTGATAAAGGGCCC -3'
|
Posted On |
2022-04-18 |