Incidental Mutation 'R8294:Syt17'
| ID |
638851 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Syt17
|
| Ensembl Gene |
ENSMUSG00000058420 |
| Gene Name |
synaptotagmin XVII |
| Synonyms |
Bk |
| MMRRC Submission |
067784-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8294 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
117979940-118047445 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 118009228 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 327
(Y327N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080284
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081574]
[ENSMUST00000203465]
[ENSMUST00000203485]
[ENSMUST00000203796]
|
| AlphaFold |
Q920M7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000081574
AA Change: Y327N
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000080284
Gene: ENSMUSG00000058420
AA Change: Y327N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
90 |
102 |
N/A |
INTRINSIC |
|
low complexity region
|
103 |
118 |
N/A |
INTRINSIC |
|
low complexity region
|
159 |
172 |
N/A |
INTRINSIC |
|
C2
|
196 |
305 |
7.92e-19 |
SMART |
|
low complexity region
|
315 |
328 |
N/A |
INTRINSIC |
|
C2
|
333 |
448 |
2.8e-19 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000203465
AA Change: Y326N
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000203485
AA Change: Y331N
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000144987
Gene: ENSMUSG00000058420
AA Change: Y331N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
94 |
106 |
N/A |
INTRINSIC |
|
low complexity region
|
107 |
122 |
N/A |
INTRINSIC |
|
low complexity region
|
163 |
176 |
N/A |
INTRINSIC |
|
C2
|
200 |
309 |
5.2e-21 |
SMART |
|
low complexity region
|
319 |
332 |
N/A |
INTRINSIC |
|
C2
|
337 |
419 |
3.1e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000203796
AA Change: Y270N
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000145087
Gene: ENSMUSG00000058420
AA Change: Y270N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
45 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
61 |
N/A |
INTRINSIC |
|
low complexity region
|
102 |
115 |
N/A |
INTRINSIC |
|
C2
|
139 |
248 |
5.2e-21 |
SMART |
|
low complexity region
|
258 |
271 |
N/A |
INTRINSIC |
|
C2
|
276 |
391 |
1.9e-21 |
SMART |
|
| Meta Mutation Damage Score |
0.9102 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
98% (42/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
C |
3: 121,897,217 (GRCm39) |
V632A |
possibly damaging |
Het |
| Abcf2 |
CAT |
CATAAT |
5: 24,781,589 (GRCm39) |
|
probably benign |
Het |
| Acat2 |
T |
C |
17: 13,175,243 (GRCm39) |
I79V |
probably benign |
Het |
| Arid3a |
A |
T |
10: 79,786,535 (GRCm39) |
|
silent |
Het |
| Cecr2 |
C |
T |
6: 120,710,747 (GRCm39) |
A154V |
probably damaging |
Het |
| Cog3 |
A |
C |
14: 75,954,619 (GRCm39) |
L650R |
probably damaging |
Het |
| Col12a1 |
A |
T |
9: 79,606,594 (GRCm39) |
F610I |
possibly damaging |
Het |
| Col24a1 |
A |
G |
3: 145,186,844 (GRCm39) |
D1215G |
probably null |
Het |
| Ctsh |
C |
G |
9: 89,950,489 (GRCm39) |
A219G |
possibly damaging |
Het |
| Dnah10 |
C |
T |
5: 124,859,410 (GRCm39) |
L2126F |
probably damaging |
Het |
| Dock10 |
A |
G |
1: 80,488,079 (GRCm39) |
V2028A |
possibly damaging |
Het |
| Ece1 |
T |
C |
4: 137,675,931 (GRCm39) |
V435A |
possibly damaging |
Het |
| Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
| H4c1 |
A |
G |
13: 23,944,957 (GRCm39) |
F62L |
probably damaging |
Het |
| Hk1 |
T |
G |
10: 62,131,624 (GRCm39) |
I245L |
probably benign |
Het |
| Hyal6 |
A |
C |
6: 24,734,378 (GRCm39) |
K104Q |
possibly damaging |
Het |
| Kalrn |
T |
C |
16: 33,853,954 (GRCm39) |
I2017V |
probably benign |
Het |
| Khdc4 |
C |
T |
3: 88,603,915 (GRCm39) |
A244V |
probably damaging |
Het |
| Krt72 |
A |
T |
15: 101,694,472 (GRCm39) |
L141Q |
probably damaging |
Het |
| Map3k4 |
C |
A |
17: 12,537,500 (GRCm39) |
A6S |
unknown |
Het |
| Muc6 |
T |
C |
7: 141,217,263 (GRCm39) |
Y2470C |
possibly damaging |
Het |
| Nrip1 |
A |
G |
16: 76,089,418 (GRCm39) |
V713A |
probably damaging |
Het |
| Or10q1b |
A |
G |
19: 13,683,010 (GRCm39) |
D273G |
probably benign |
Het |
| Or11g26 |
A |
G |
14: 50,753,083 (GRCm39) |
T141A |
possibly damaging |
Het |
| Or2ah1 |
T |
A |
2: 85,653,531 (GRCm39) |
I72N |
probably damaging |
Het |
| Or6aa1 |
T |
C |
7: 86,044,487 (GRCm39) |
Y73C |
probably damaging |
Het |
| Paip1 |
C |
T |
13: 119,587,300 (GRCm39) |
T304I |
possibly damaging |
Het |
| Pde4dip |
A |
G |
3: 97,674,694 (GRCm39) |
L74P |
probably damaging |
Het |
| Prkch |
T |
A |
12: 73,806,484 (GRCm39) |
L577H |
probably damaging |
Het |
| Rp1 |
A |
G |
1: 4,416,220 (GRCm39) |
S1631P |
probably benign |
Het |
| Rph3a |
A |
G |
5: 121,099,429 (GRCm39) |
F154S |
probably damaging |
Het |
| S1pr5 |
A |
G |
9: 21,156,300 (GRCm39) |
V42A |
possibly damaging |
Het |
| Scaper |
G |
A |
9: 55,517,280 (GRCm39) |
L1052F |
possibly damaging |
Het |
| Slc44a2 |
G |
T |
9: 21,259,643 (GRCm39) |
V597F |
probably damaging |
Het |
| Srsf1 |
T |
A |
11: 87,939,467 (GRCm39) |
S116T |
probably benign |
Het |
| Ssh2 |
A |
G |
11: 77,345,027 (GRCm39) |
D1004G |
probably benign |
Het |
| St3gal5 |
T |
A |
6: 72,074,816 (GRCm39) |
D25E |
|
Het |
| T |
T |
A |
17: 8,653,364 (GRCm39) |
M1K |
probably null |
Het |
| Tmem201 |
A |
T |
4: 149,815,554 (GRCm39) |
I132N |
possibly damaging |
Het |
| Tmprss15 |
A |
T |
16: 78,868,176 (GRCm39) |
C211S |
probably benign |
Het |
| Trim36 |
T |
C |
18: 46,331,588 (GRCm39) |
D7G |
probably benign |
Het |
| Trip11 |
T |
A |
12: 101,811,160 (GRCm39) |
K1863N |
possibly damaging |
Het |
| Vmn2r13 |
A |
T |
5: 109,322,978 (GRCm39) |
S104T |
probably benign |
Het |
| Zfp977 |
T |
C |
7: 42,229,689 (GRCm39) |
T279A |
probably benign |
Het |
|
| Other mutations in Syt17 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00486:Syt17
|
APN |
7 |
118,033,513 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01135:Syt17
|
APN |
7 |
117,981,270 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL01331:Syt17
|
APN |
7 |
118,007,389 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01610:Syt17
|
APN |
7 |
118,033,216 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL01776:Syt17
|
APN |
7 |
118,009,176 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02125:Syt17
|
APN |
7 |
118,009,197 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02819:Syt17
|
APN |
7 |
118,009,143 (GRCm39) |
splice site |
probably benign |
|
|
H8562:Syt17
|
UTSW |
7 |
118,007,292 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0127:Syt17
|
UTSW |
7 |
118,009,164 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0328:Syt17
|
UTSW |
7 |
117,981,216 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1789:Syt17
|
UTSW |
7 |
118,036,061 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1872:Syt17
|
UTSW |
7 |
118,007,341 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1878:Syt17
|
UTSW |
7 |
118,033,468 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1918:Syt17
|
UTSW |
7 |
118,033,208 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R2133:Syt17
|
UTSW |
7 |
117,981,270 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3777:Syt17
|
UTSW |
7 |
118,033,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4471:Syt17
|
UTSW |
7 |
118,036,040 (GRCm39) |
splice site |
probably null |
|
|
R4472:Syt17
|
UTSW |
7 |
118,036,040 (GRCm39) |
splice site |
probably null |
|
|
R4567:Syt17
|
UTSW |
7 |
118,033,495 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5211:Syt17
|
UTSW |
7 |
118,041,626 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5905:Syt17
|
UTSW |
7 |
118,036,141 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6054:Syt17
|
UTSW |
7 |
118,007,356 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6276:Syt17
|
UTSW |
7 |
118,033,513 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6332:Syt17
|
UTSW |
7 |
118,033,466 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7022:Syt17
|
UTSW |
7 |
118,007,242 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7440:Syt17
|
UTSW |
7 |
117,981,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7610:Syt17
|
UTSW |
7 |
118,033,682 (GRCm39) |
splice site |
probably null |
|
|
R7845:Syt17
|
UTSW |
7 |
118,009,194 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8296:Syt17
|
UTSW |
7 |
118,036,069 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8429:Syt17
|
UTSW |
7 |
118,033,564 (GRCm39) |
missense |
probably benign |
|
|
R8949:Syt17
|
UTSW |
7 |
118,033,054 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9278:Syt17
|
UTSW |
7 |
118,033,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9622:Syt17
|
UTSW |
7 |
118,036,191 (GRCm39) |
missense |
probably benign |
|
|
R9629:Syt17
|
UTSW |
7 |
118,007,379 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1177:Syt17
|
UTSW |
7 |
118,033,446 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTACCTTAGCAACAACATCCAGG -3'
(R):5'- TGTGCACGTAGAAGTGTCCTC -3'
Sequencing Primer
(F):5'- TTAGCAACAACATCCAGGACACAAC -3'
(R):5'- ACGTAGAAGTGTCCTCTTGTGCAC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation