Incidental Mutation 'R4567:Syt17'
| ID |
343351 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Syt17
|
| Ensembl Gene |
ENSMUSG00000058420 |
| Gene Name |
synaptotagmin XVII |
| Synonyms |
Bk |
| MMRRC Submission |
041791-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4567 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
117979940-118047445 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 118033495 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 171
(V171A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144987
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081574]
[ENSMUST00000203465]
[ENSMUST00000203485]
[ENSMUST00000203796]
[ENSMUST00000207034]
|
| AlphaFold |
Q920M7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081574
AA Change: V167A
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000080284
Gene: ENSMUSG00000058420
AA Change: V167A
| 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 benign
Transcript: ENSMUST00000203465
AA Change: V166A
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203485
AA Change: V171A
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000144987
Gene: ENSMUSG00000058420
AA Change: V171A
| 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 benign
Transcript: ENSMUST00000203796
AA Change: V110A
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000145087
Gene: ENSMUSG00000058420
AA Change: V110A
| 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 |
0.0797 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
95% (38/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd16a |
T |
A |
17: 35,315,499 (GRCm39) |
L182Q |
probably damaging |
Het |
| Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
| Alg12 |
T |
C |
15: 88,690,556 (GRCm39) |
|
probably benign |
Het |
| Asmt |
A |
G |
X: 169,110,261 (GRCm39) |
|
probably null |
Het |
| Atp10b |
T |
C |
11: 43,088,384 (GRCm39) |
I330T |
probably benign |
Het |
| Ceacam23 |
T |
C |
7: 17,642,891 (GRCm39) |
S434P |
probably damaging |
Het |
| Dennd5a |
T |
C |
7: 109,498,942 (GRCm39) |
M998V |
probably benign |
Het |
| Erbb3 |
A |
G |
10: 128,414,944 (GRCm39) |
S401P |
probably damaging |
Het |
| Gm10718 |
A |
T |
9: 3,023,716 (GRCm39) |
T56S |
probably benign |
Het |
| Gm1527 |
A |
T |
3: 28,968,556 (GRCm39) |
N203Y |
probably damaging |
Het |
| Hsf2bp |
C |
T |
17: 32,165,708 (GRCm39) |
V296M |
probably benign |
Het |
| Htr1d |
T |
A |
4: 136,170,836 (GRCm39) |
V355E |
probably benign |
Het |
| Ints11 |
T |
C |
4: 155,970,132 (GRCm39) |
V203A |
probably damaging |
Het |
| Iqsec3 |
A |
G |
6: 121,364,721 (GRCm39) |
V856A |
probably damaging |
Het |
| Nherf4 |
C |
A |
9: 44,160,323 (GRCm39) |
V294L |
possibly damaging |
Het |
| Or2ag1b |
G |
A |
7: 106,288,420 (GRCm39) |
Q173* |
probably null |
Het |
| Or2y6 |
T |
C |
11: 52,104,291 (GRCm39) |
H175R |
probably damaging |
Het |
| Or5t18 |
A |
G |
2: 86,637,146 (GRCm39) |
S66P |
probably damaging |
Het |
| Phf11 |
A |
T |
14: 59,488,627 (GRCm39) |
Y57N |
probably damaging |
Het |
| Ppfia2 |
G |
A |
10: 106,701,267 (GRCm39) |
|
probably null |
Het |
| Prss23 |
T |
A |
7: 89,160,074 (GRCm39) |
|
probably benign |
Het |
| Rasl2-9 |
AGG |
A |
7: 5,128,374 (GRCm39) |
|
probably null |
Het |
| Rcn2 |
A |
T |
9: 55,960,266 (GRCm39) |
I178F |
probably benign |
Het |
| Rtn1 |
C |
T |
12: 72,259,261 (GRCm39) |
|
probably benign |
Het |
| Sik2 |
A |
G |
9: 50,909,876 (GRCm39) |
V59A |
probably damaging |
Het |
| Slc25a42 |
A |
T |
8: 70,641,504 (GRCm39) |
M159K |
probably damaging |
Het |
| Slc9a4 |
T |
C |
1: 40,619,737 (GRCm39) |
L21P |
probably damaging |
Het |
| Smap2 |
A |
C |
4: 120,842,508 (GRCm39) |
W41G |
probably damaging |
Het |
| Sox6 |
T |
C |
7: 115,261,557 (GRCm39) |
I220V |
probably benign |
Het |
| Spata31e2 |
T |
C |
1: 26,722,198 (GRCm39) |
D994G |
probably benign |
Het |
| Tjp1 |
A |
G |
7: 64,956,249 (GRCm39) |
F1332S |
probably damaging |
Het |
| Trim3 |
C |
T |
7: 105,262,623 (GRCm39) |
V512I |
possibly damaging |
Het |
| Uhmk1 |
G |
A |
1: 170,032,686 (GRCm39) |
Q282* |
probably null |
Het |
| Ushbp1 |
G |
A |
8: 71,838,361 (GRCm39) |
R648W |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCAGATCTTGACGTAGGG -3'
(R):5'- AGCAGGTGACCATTGTTCTTGG -3'
Sequencing Primer
(F):5'- CAGATCTTGACGTAGGGGTTGGAG -3'
(R):5'- TAGGTCTGGATTCCCGGC -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation