Incidental Mutation 'R0328:Syt17'
| ID |
25866 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Syt17
|
| Ensembl Gene |
ENSMUSG00000058420 |
| Gene Name |
synaptotagmin XVII |
| Synonyms |
Bk |
| MMRRC Submission |
038537-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0328 (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 117981216 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 369
(Y369H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145087
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081574]
[ENSMUST00000203465]
[ENSMUST00000203796]
|
| AlphaFold |
Q920M7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081574
AA Change: Y426H
PolyPhen 2
Score 0.275 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000080284
Gene: ENSMUSG00000058420
AA Change: Y426H
| 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: Y425H
PolyPhen 2
Score 0.142 (Sensitivity: 0.92; Specificity: 0.86)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203796
AA Change: Y369H
PolyPhen 2
Score 0.275 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000145087
Gene: ENSMUSG00000058420
AA Change: Y369H
| 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 |
0.0738 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.5%
- 20x: 90.8%
|
| Validation Efficiency |
96% (46/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
A |
T |
2: 68,574,624 (GRCm39) |
H618L |
possibly damaging |
Het |
| Aacs |
T |
C |
5: 125,593,323 (GRCm39) |
V642A |
probably benign |
Het |
| Alms1 |
A |
G |
6: 85,587,796 (GRCm39) |
|
probably null |
Het |
| Arhgap39 |
A |
G |
15: 76,636,152 (GRCm39) |
|
probably benign |
Het |
| Bard1 |
C |
T |
1: 71,085,921 (GRCm39) |
V595I |
probably benign |
Het |
| Bptf |
T |
C |
11: 106,937,953 (GRCm39) |
K2713E |
probably damaging |
Het |
| Calhm1 |
C |
T |
19: 47,129,742 (GRCm39) |
G260D |
possibly damaging |
Het |
| Ccdc154 |
A |
C |
17: 25,390,779 (GRCm39) |
K643T |
probably benign |
Het |
| Ccl4 |
T |
A |
11: 83,554,383 (GRCm39) |
S59T |
probably damaging |
Het |
| Cntd1 |
T |
C |
11: 101,174,259 (GRCm39) |
S73P |
probably benign |
Het |
| Colgalt2 |
A |
T |
1: 152,348,859 (GRCm39) |
D168V |
probably damaging |
Het |
| Fam117a |
T |
C |
11: 95,266,452 (GRCm39) |
|
probably benign |
Het |
| Fat1 |
A |
G |
8: 45,476,827 (GRCm39) |
T1935A |
probably benign |
Het |
| Fbxw21 |
T |
A |
9: 108,975,653 (GRCm39) |
I248F |
possibly damaging |
Het |
| Fhod3 |
A |
T |
18: 25,246,657 (GRCm39) |
M1288L |
probably benign |
Het |
| Gm5114 |
T |
G |
7: 39,057,885 (GRCm39) |
K578T |
probably damaging |
Het |
| Gxylt2 |
A |
T |
6: 100,727,496 (GRCm39) |
|
probably benign |
Het |
| Helz |
G |
T |
11: 107,495,174 (GRCm39) |
A383S |
probably benign |
Het |
| Ift172 |
C |
A |
5: 31,421,195 (GRCm39) |
E968* |
probably null |
Het |
| Itpripl1 |
T |
C |
2: 126,983,924 (GRCm39) |
N66S |
possibly damaging |
Het |
| Kcnma1 |
A |
G |
14: 23,423,265 (GRCm39) |
Y686H |
probably damaging |
Het |
| Ndrg1 |
C |
A |
15: 66,815,008 (GRCm39) |
|
probably benign |
Het |
| Ogdh |
T |
C |
11: 6,297,216 (GRCm39) |
V545A |
probably benign |
Het |
| Or10al5 |
A |
G |
17: 38,063,284 (GRCm39) |
I180V |
possibly damaging |
Het |
| P3h3 |
G |
A |
6: 124,831,269 (GRCm39) |
|
probably benign |
Het |
| Ppme1 |
A |
T |
7: 99,983,182 (GRCm39) |
|
probably null |
Het |
| Prkag1 |
T |
G |
15: 98,713,563 (GRCm39) |
D44A |
probably damaging |
Het |
| Prpf39 |
T |
C |
12: 65,090,145 (GRCm39) |
|
probably benign |
Het |
| Rabep1 |
C |
A |
11: 70,810,033 (GRCm39) |
R489S |
probably damaging |
Het |
| Scn10a |
A |
G |
9: 119,523,168 (GRCm39) |
V75A |
possibly damaging |
Het |
| Sema3d |
T |
C |
5: 12,498,042 (GRCm39) |
L16P |
possibly damaging |
Het |
| Skida1 |
T |
C |
2: 18,051,997 (GRCm39) |
|
probably benign |
Het |
| Sptbn4 |
T |
C |
7: 27,063,595 (GRCm39) |
Y2277C |
probably damaging |
Het |
| Syne1 |
A |
G |
10: 5,298,945 (GRCm39) |
I1047T |
possibly damaging |
Het |
| Tmem131l |
C |
T |
3: 83,829,238 (GRCm39) |
|
probably benign |
Het |
| Traf3ip2 |
A |
T |
10: 39,510,669 (GRCm39) |
D314V |
probably damaging |
Het |
| Ttc28 |
T |
G |
5: 111,431,933 (GRCm39) |
|
probably benign |
Het |
| Ush1c |
A |
C |
7: 45,874,872 (GRCm39) |
|
probably benign |
Het |
| Utp20 |
A |
T |
10: 88,602,969 (GRCm39) |
Y1884N |
possibly damaging |
Het |
| Vmn2r112 |
T |
A |
17: 22,824,251 (GRCm39) |
I502K |
probably benign |
Het |
| Vmn2r60 |
T |
C |
7: 41,791,744 (GRCm39) |
|
probably benign |
Het |
| Vmn2r63 |
T |
C |
7: 42,552,699 (GRCm39) |
I852M |
probably benign |
Het |
| Vmn2r9 |
T |
A |
5: 108,995,405 (GRCm39) |
E414D |
probably benign |
Het |
| Wnt4 |
A |
G |
4: 137,022,754 (GRCm39) |
T106A |
probably damaging |
Het |
| Zbtb26 |
A |
T |
2: 37,326,807 (GRCm39) |
N76K |
possibly damaging |
Het |
| Zfhx2 |
T |
C |
14: 55,309,445 (GRCm39) |
T885A |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATGATCAACTGTCAGCTCGCTCTC -3'
(R):5'- AGCAACAACCCCATGTTTGCCG -3'
Sequencing Primer
(F):5'- ATGTGTGAAAGTATACCTAGATGTGG -3'
(R):5'- CCCATGTTTGCCGCTGAG -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation