Incidental Mutation 'IGL00486:Syt17'
| ID |
14331 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Syt17
|
| Ensembl Gene |
ENSMUSG00000058420 |
| Gene Name |
synaptotagmin XVII |
| Synonyms |
Bk |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00486
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
117979940-118047445 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 118033513 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 165
(D165G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144987
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081574]
[ENSMUST00000203465]
[ENSMUST00000203485]
[ENSMUST00000203796]
[ENSMUST00000207034]
|
| AlphaFold |
Q920M7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000081574
AA Change: D161G
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000080284
Gene: ENSMUSG00000058420
AA Change: D161G
| 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: D160G
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000203485
AA Change: D165G
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000144987
Gene: ENSMUSG00000058420
AA Change: D165G
| 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 |
possibly damaging
Transcript: ENSMUST00000203796
AA Change: D104G
PolyPhen 2
Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000145087
Gene: ENSMUSG00000058420
AA Change: D104G
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207034
|
| Meta Mutation Damage Score |
0.0653 |
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
G |
7: 119,846,076 (GRCm39) |
T576A |
probably damaging |
Het |
| As3mt |
A |
G |
19: 46,708,864 (GRCm39) |
E286G |
probably benign |
Het |
| Baiap3 |
G |
T |
17: 25,467,351 (GRCm39) |
|
probably benign |
Het |
| C1qc |
T |
C |
4: 136,617,445 (GRCm39) |
E217G |
probably damaging |
Het |
| Ccser2 |
A |
G |
14: 36,662,021 (GRCm39) |
Y388H |
probably damaging |
Het |
| Clcn7 |
C |
A |
17: 25,370,097 (GRCm39) |
A328D |
probably damaging |
Het |
| Clstn1 |
G |
A |
4: 149,719,700 (GRCm39) |
R415Q |
probably damaging |
Het |
| Hcn4 |
T |
C |
9: 58,767,336 (GRCm39) |
S966P |
unknown |
Het |
| Heph |
A |
T |
X: 95,571,284 (GRCm39) |
D748V |
probably damaging |
Het |
| Herc1 |
C |
T |
9: 66,383,402 (GRCm39) |
T3691I |
probably benign |
Het |
| Hsd17b14 |
A |
G |
7: 45,216,137 (GRCm39) |
T236A |
possibly damaging |
Het |
| Kif28 |
C |
A |
1: 179,530,081 (GRCm39) |
L693F |
probably damaging |
Het |
| Mnd1 |
T |
C |
3: 84,045,505 (GRCm39) |
E33G |
possibly damaging |
Het |
| Nbas |
T |
G |
12: 13,503,076 (GRCm39) |
D1520E |
probably benign |
Het |
| Poli |
C |
T |
18: 70,658,561 (GRCm39) |
G81R |
probably damaging |
Het |
| Pou6f2 |
G |
A |
13: 18,314,170 (GRCm39) |
S401F |
probably damaging |
Het |
| Ppp1r3c |
G |
A |
19: 36,711,324 (GRCm39) |
R149W |
probably damaging |
Het |
| Ptprc |
C |
A |
1: 138,043,359 (GRCm39) |
C64F |
probably damaging |
Het |
| Ptprz1 |
T |
C |
6: 22,973,053 (GRCm39) |
Y274H |
probably damaging |
Het |
| Ranbp2 |
T |
A |
10: 58,313,434 (GRCm39) |
L1385I |
probably benign |
Het |
| Sgms1 |
A |
T |
19: 32,137,025 (GRCm39) |
F180L |
probably damaging |
Het |
| Slc7a9 |
T |
A |
7: 35,160,312 (GRCm39) |
M396K |
probably damaging |
Het |
| Tnxb |
T |
C |
17: 34,911,356 (GRCm39) |
L1553P |
probably damaging |
Het |
| Trim31 |
C |
A |
17: 37,220,133 (GRCm39) |
Q350K |
probably benign |
Het |
| Wnk3 |
A |
G |
X: 150,016,025 (GRCm39) |
R494G |
probably damaging |
Het |
| Zmym6 |
A |
G |
4: 127,017,978 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Syt17 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R8294:Syt17
|
UTSW |
7 |
118,009,228 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
| Posted On |
2012-12-06 |
Incidental Mutation