Incidental Mutation 'R0587:Syt6'
| ID |
55799 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Syt6
|
| Ensembl Gene |
ENSMUSG00000027849 |
| Gene Name |
synaptotagmin VI |
| Synonyms |
3110037A08Rik |
| MMRRC Submission |
038777-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.123)
|
| Stock # |
R0587 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
103482561-103552883 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 103532887 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 424
(T424A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112997
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090697]
[ENSMUST00000117221]
[ENSMUST00000118117]
[ENSMUST00000118563]
[ENSMUST00000121834]
[ENSMUST00000132325]
[ENSMUST00000136049]
[ENSMUST00000151985]
|
| AlphaFold |
Q9R0N8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000090697
AA Change: T424A
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000088196
Gene: ENSMUSG00000027849
AA Change: T424A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
59 |
81 |
N/A |
INTRINSIC |
|
low complexity region
|
93 |
103 |
N/A |
INTRINSIC |
|
C2
|
246 |
350 |
2.65e-20 |
SMART |
|
C2
|
378 |
492 |
2.25e-23 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117221
AA Change: T339A
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113373
Gene: ENSMUSG00000027849
AA Change: T339A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
18 |
N/A |
INTRINSIC |
|
C2
|
161 |
265 |
2.65e-20 |
SMART |
|
C2
|
293 |
407 |
2.25e-23 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118117
AA Change: T339A
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000112486
Gene: ENSMUSG00000027849
AA Change: T339A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
18 |
N/A |
INTRINSIC |
|
C2
|
161 |
265 |
2.65e-20 |
SMART |
|
C2
|
293 |
407 |
2.25e-23 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118563
|
| SMART Domains |
Protein: ENSMUSP00000113287
Gene: ENSMUSG00000027849
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
18 |
N/A |
INTRINSIC |
|
C2
|
161 |
265 |
2.65e-20 |
SMART |
|
Pfam:C2
|
294 |
332 |
3.5e-2 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121834
AA Change: T424A
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000112997
Gene: ENSMUSG00000027849
AA Change: T424A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
59 |
81 |
N/A |
INTRINSIC |
|
low complexity region
|
93 |
103 |
N/A |
INTRINSIC |
|
C2
|
246 |
350 |
2.65e-20 |
SMART |
|
C2
|
378 |
492 |
2.25e-23 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132325
|
| SMART Domains |
Protein: ENSMUSP00000116324
Gene: ENSMUSG00000027849
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136049
|
| SMART Domains |
Protein: ENSMUSP00000118124
Gene: ENSMUSG00000027849
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151985
|
| Meta Mutation Damage Score |
0.4334 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.3%
|
| Validation Efficiency |
94% (34/36) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the synaptotagmin family. Synaptotagmins share a common domain structure that includes a transmembrane domain and a cytoplasmic region composed of 2 C2 domains, and are involved in calcium-dependent exocytosis of synaptic vesicles. This protein has been shown to be a key component of the secretory machinery involved in acrosomal exocytosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310061I04Rik |
T |
C |
17: 36,203,855 (GRCm39) |
*212W |
probably null |
Het |
| Abca1 |
A |
G |
4: 53,107,035 (GRCm39) |
Y231H |
probably benign |
Het |
| Abca5 |
T |
G |
11: 110,202,203 (GRCm39) |
I401L |
probably benign |
Het |
| Ak2 |
A |
G |
4: 128,896,171 (GRCm39) |
D112G |
probably damaging |
Het |
| Ankrd60 |
T |
A |
2: 173,410,644 (GRCm39) |
D292V |
possibly damaging |
Het |
| Bank1 |
A |
G |
3: 135,919,798 (GRCm39) |
|
probably benign |
Het |
| Bod1l |
G |
A |
5: 41,978,980 (GRCm39) |
S778L |
probably benign |
Het |
| Cep76 |
C |
A |
18: 67,756,245 (GRCm39) |
E529* |
probably null |
Het |
| Col24a1 |
T |
C |
3: 144,998,906 (GRCm39) |
V13A |
possibly damaging |
Het |
| Ctsc |
T |
A |
7: 87,946,437 (GRCm39) |
H154Q |
probably benign |
Het |
| Ctsf |
A |
G |
19: 4,905,766 (GRCm39) |
E87G |
probably benign |
Het |
| Dmxl1 |
A |
T |
18: 50,068,374 (GRCm39) |
T2716S |
probably benign |
Het |
| Espl1 |
A |
G |
15: 102,212,382 (GRCm39) |
|
probably benign |
Het |
| Fcsk |
T |
A |
8: 111,609,957 (GRCm39) |
Q1019L |
probably damaging |
Het |
| Hnrnpul1 |
T |
A |
7: 25,444,657 (GRCm39) |
Y217F |
possibly damaging |
Het |
| Kmt2a |
A |
T |
9: 44,758,831 (GRCm39) |
M1039K |
probably damaging |
Het |
| Large1 |
T |
C |
8: 73,585,961 (GRCm39) |
N382D |
probably damaging |
Het |
| Madd |
A |
G |
2: 90,977,230 (GRCm39) |
V1402A |
probably damaging |
Het |
| Mlh3 |
C |
T |
12: 85,313,193 (GRCm39) |
V998M |
probably benign |
Het |
| Myo1c |
A |
G |
11: 75,548,616 (GRCm39) |
Y71C |
probably damaging |
Het |
| Myt1l |
G |
A |
12: 29,861,634 (GRCm39) |
D139N |
unknown |
Het |
| Nes |
C |
A |
3: 87,885,876 (GRCm39) |
H1378Q |
probably benign |
Het |
| Or4c12 |
T |
C |
2: 89,773,736 (GRCm39) |
H241R |
probably damaging |
Het |
| Otud6b |
T |
C |
4: 14,815,661 (GRCm39) |
E243G |
probably benign |
Het |
| Pak3 |
TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
X: 142,526,889 (GRCm39) |
|
probably benign |
Het |
| Pcm1 |
G |
T |
8: 41,739,088 (GRCm39) |
R912L |
probably damaging |
Het |
| Piezo2 |
A |
G |
18: 63,155,497 (GRCm39) |
I2449T |
possibly damaging |
Het |
| Slc12a5 |
G |
A |
2: 164,818,453 (GRCm39) |
M217I |
probably damaging |
Het |
| Sorl1 |
C |
A |
9: 41,895,802 (GRCm39) |
W1784C |
probably damaging |
Het |
| Spatc1l |
A |
G |
10: 76,400,011 (GRCm39) |
R178G |
possibly damaging |
Het |
| Strada |
A |
C |
11: 106,061,790 (GRCm39) |
Y154D |
probably damaging |
Het |
| Tbx1 |
C |
T |
16: 18,402,243 (GRCm39) |
A245T |
possibly damaging |
Het |
| Tmem143 |
T |
C |
7: 45,556,478 (GRCm39) |
L161P |
probably damaging |
Het |
|
| Other mutations in Syt6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00838:Syt6
|
APN |
3 |
103,532,942 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02944:Syt6
|
APN |
3 |
103,482,865 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03168:Syt6
|
APN |
3 |
103,494,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4305001:Syt6
|
UTSW |
3 |
103,482,769 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0124:Syt6
|
UTSW |
3 |
103,494,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0601:Syt6
|
UTSW |
3 |
103,528,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1262:Syt6
|
UTSW |
3 |
103,492,656 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1970:Syt6
|
UTSW |
3 |
103,494,736 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4012:Syt6
|
UTSW |
3 |
103,532,809 (GRCm39) |
splice site |
probably benign |
|
|
R4450:Syt6
|
UTSW |
3 |
103,492,961 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4493:Syt6
|
UTSW |
3 |
103,492,946 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4494:Syt6
|
UTSW |
3 |
103,492,946 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4495:Syt6
|
UTSW |
3 |
103,494,876 (GRCm39) |
nonsense |
probably null |
|
|
R4740:Syt6
|
UTSW |
3 |
103,532,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4750:Syt6
|
UTSW |
3 |
103,538,233 (GRCm39) |
makesense |
probably null |
|
|
R5668:Syt6
|
UTSW |
3 |
103,528,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6185:Syt6
|
UTSW |
3 |
103,492,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6660:Syt6
|
UTSW |
3 |
103,532,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7120:Syt6
|
UTSW |
3 |
103,494,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7307:Syt6
|
UTSW |
3 |
103,494,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7501:Syt6
|
UTSW |
3 |
103,495,018 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8768:Syt6
|
UTSW |
3 |
103,492,850 (GRCm39) |
missense |
probably benign |
|
|
R8867:Syt6
|
UTSW |
3 |
103,534,371 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8885:Syt6
|
UTSW |
3 |
103,532,941 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9068:Syt6
|
UTSW |
3 |
103,494,825 (GRCm39) |
nonsense |
probably null |
|
|
R9098:Syt6
|
UTSW |
3 |
103,492,895 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9361:Syt6
|
UTSW |
3 |
103,482,679 (GRCm39) |
unclassified |
probably benign |
|
|
Z1177:Syt6
|
UTSW |
3 |
103,552,431 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GACTCCGACTCTCTGTGGCAAATG -3'
(R):5'- GGGATGACAAGCAGAATTACCCCAG -3'
Sequencing Primer
(F):5'- atgtctcacacctgtcatctc -3'
(R):5'- GTAAGGATGGTCCATACACTTTCTC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation