Incidental Mutation 'IGL01135:Syt17'
ID |
51633 |
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 # |
IGL01135
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
117979940-118047445 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 117981270 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Serine
at position 351
(G351S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145087
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081574]
[ENSMUST00000203465]
[ENSMUST00000203796]
|
AlphaFold |
Q920M7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000081574
AA Change: G408S
PolyPhen 2
Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000080284 Gene: ENSMUSG00000058420 AA Change: G408S
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 |
possibly damaging
Transcript: ENSMUST00000203465
AA Change: G407S
PolyPhen 2
Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000203796
AA Change: G351S
PolyPhen 2
Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000145087 Gene: ENSMUSG00000058420 AA Change: G351S
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
5730507C01Rik |
G |
A |
12: 18,583,375 (GRCm39) |
R145H |
possibly damaging |
Het |
Acox3 |
T |
A |
5: 35,746,096 (GRCm39) |
V93E |
probably benign |
Het |
Ankar |
T |
C |
1: 72,704,378 (GRCm39) |
N848S |
probably benign |
Het |
Blzf1 |
A |
G |
1: 164,131,499 (GRCm39) |
|
probably benign |
Het |
Cc2d1a |
G |
T |
8: 84,870,033 (GRCm39) |
H161N |
probably benign |
Het |
Ceacam23 |
A |
T |
7: 17,636,396 (GRCm39) |
|
noncoding transcript |
Het |
Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
Ckmt1 |
A |
C |
2: 121,191,631 (GRCm39) |
D267A |
probably damaging |
Het |
Dtl |
G |
T |
1: 191,280,442 (GRCm39) |
T364K |
probably damaging |
Het |
Fat1 |
T |
A |
8: 45,477,877 (GRCm39) |
F2308I |
probably damaging |
Het |
Fbxo41 |
A |
T |
6: 85,454,890 (GRCm39) |
S673T |
probably benign |
Het |
Flnb |
G |
A |
14: 7,909,736 (GRCm38) |
V1397I |
probably benign |
Het |
Gdi2 |
A |
G |
13: 3,598,855 (GRCm39) |
|
probably benign |
Het |
Grik3 |
C |
T |
4: 125,526,208 (GRCm39) |
T147I |
probably benign |
Het |
Htr1a |
T |
C |
13: 105,581,792 (GRCm39) |
V344A |
possibly damaging |
Het |
Isg20l2 |
A |
T |
3: 87,839,068 (GRCm39) |
D93V |
probably damaging |
Het |
Kcnt2 |
T |
C |
1: 140,282,293 (GRCm39) |
|
probably null |
Het |
Mfsd4b3-ps |
A |
G |
10: 39,824,068 (GRCm39) |
M64T |
probably benign |
Het |
Nox3 |
T |
A |
17: 3,746,527 (GRCm39) |
|
probably benign |
Het |
Or2ag12 |
C |
T |
7: 106,277,400 (GRCm39) |
A98T |
probably benign |
Het |
Pikfyve |
T |
A |
1: 65,290,794 (GRCm39) |
N1204K |
probably damaging |
Het |
Pou4f3 |
C |
T |
18: 42,529,031 (GRCm39) |
Q325* |
probably null |
Het |
Rap1a |
T |
A |
3: 105,639,351 (GRCm39) |
T103S |
probably benign |
Het |
Rfc4 |
G |
A |
16: 22,934,526 (GRCm39) |
R165C |
probably damaging |
Het |
Smtnl1 |
A |
G |
2: 84,649,231 (GRCm39) |
S8P |
probably benign |
Het |
Tcf20 |
T |
A |
15: 82,738,101 (GRCm39) |
M1117L |
probably benign |
Het |
Tent5a |
A |
G |
9: 85,208,652 (GRCm39) |
V57A |
probably damaging |
Het |
Tgfbr3 |
A |
T |
5: 107,362,894 (GRCm39) |
H39Q |
probably damaging |
Het |
Trdmt1 |
T |
C |
2: 13,526,071 (GRCm39) |
|
probably null |
Het |
Twf2 |
A |
G |
9: 106,090,027 (GRCm39) |
I127V |
probably benign |
Het |
Unc13c |
A |
G |
9: 73,392,175 (GRCm39) |
V2059A |
probably damaging |
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 |
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 |
2013-06-21 |