Incidental Mutation 'R4494:Syt6'
| ID |
330874 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Syt6
|
| Ensembl Gene |
ENSMUSG00000027849 |
| Gene Name |
synaptotagmin VI |
| Synonyms |
3110037A08Rik |
| MMRRC Submission |
041582-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.144)
|
| Stock # |
R4494 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
103482561-103552883 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 103492946 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 66
(E66G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138874
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090697]
[ENSMUST00000117221]
[ENSMUST00000118117]
[ENSMUST00000118563]
[ENSMUST00000121834]
[ENSMUST00000132325]
[ENSMUST00000136049]
[ENSMUST00000183637]
[ENSMUST00000151985]
|
| AlphaFold |
Q9R0N8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090697
AA Change: E151G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000088196
Gene: ENSMUSG00000027849
AA Change: E151G
| 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: ENSMUST00000117221
AA Change: E66G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000113373
Gene: ENSMUSG00000027849
AA Change: E66G
| 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: ENSMUST00000118117
AA Change: E66G
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000112486
Gene: ENSMUSG00000027849
AA Change: E66G
| 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
AA Change: E66G
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000113287
Gene: ENSMUSG00000027849
AA Change: E66G
| 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 benign
Transcript: ENSMUST00000121834
AA Change: E151G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000112997
Gene: ENSMUSG00000027849
AA Change: E151G
| 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 damaging
Transcript: ENSMUST00000183637
AA Change: E66G
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000138874
Gene: ENSMUSG00000027849
AA Change: E66G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
18 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151985
|
| Meta Mutation Damage Score |
0.1059 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atf7ip |
T |
A |
6: 136,540,747 (GRCm39) |
|
probably null |
Het |
| Cacna1b |
T |
C |
2: 24,542,950 (GRCm39) |
T1301A |
probably damaging |
Het |
| Calcr |
A |
T |
6: 3,708,484 (GRCm39) |
|
probably null |
Het |
| Camsap1 |
T |
C |
2: 25,842,770 (GRCm39) |
D262G |
probably damaging |
Het |
| Ccdc141 |
A |
G |
2: 76,962,641 (GRCm39) |
V101A |
probably damaging |
Het |
| Ccdc170 |
T |
C |
10: 4,464,128 (GRCm39) |
Y36H |
probably damaging |
Het |
| Cd177 |
A |
T |
7: 24,451,428 (GRCm39) |
S492T |
probably benign |
Het |
| Chrna4 |
T |
A |
2: 180,670,281 (GRCm39) |
I492F |
probably damaging |
Het |
| Cit |
T |
C |
5: 116,012,043 (GRCm39) |
Y217H |
probably damaging |
Het |
| Cnbd1 |
T |
A |
4: 19,098,150 (GRCm39) |
D90V |
probably benign |
Het |
| Cryba2 |
A |
G |
1: 74,929,789 (GRCm39) |
F116S |
probably damaging |
Het |
| Ctbp1 |
T |
C |
5: 33,408,213 (GRCm39) |
T240A |
possibly damaging |
Het |
| D130043K22Rik |
C |
T |
13: 25,055,339 (GRCm39) |
S501L |
probably benign |
Het |
| Ddhd2 |
A |
G |
8: 26,228,261 (GRCm39) |
F553S |
probably benign |
Het |
| Ddr2 |
C |
A |
1: 169,815,983 (GRCm39) |
G575W |
probably damaging |
Het |
| Dip2c |
T |
C |
13: 9,621,098 (GRCm39) |
V537A |
possibly damaging |
Het |
| Dnah12 |
C |
T |
14: 26,593,812 (GRCm39) |
A752V |
probably damaging |
Het |
| Dnah7a |
T |
C |
1: 53,488,197 (GRCm39) |
D3260G |
probably benign |
Het |
| Efemp2 |
T |
A |
19: 5,530,339 (GRCm39) |
C309S |
probably damaging |
Het |
| Gse1 |
G |
A |
8: 121,297,553 (GRCm39) |
|
probably benign |
Het |
| Hspa4l |
T |
C |
3: 40,707,636 (GRCm39) |
S53P |
possibly damaging |
Het |
| Ighv5-4 |
T |
C |
12: 113,561,204 (GRCm39) |
D72G |
probably benign |
Het |
| Igkv15-103 |
A |
G |
6: 68,414,780 (GRCm39) |
N73S |
probably benign |
Het |
| Igsf11 |
T |
G |
16: 38,831,703 (GRCm39) |
N183K |
possibly damaging |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Kcnk18 |
T |
C |
19: 59,223,263 (GRCm39) |
V136A |
probably damaging |
Het |
| Krt75 |
A |
T |
15: 101,480,136 (GRCm39) |
Y240* |
probably null |
Het |
| Lyst |
G |
A |
13: 13,809,968 (GRCm39) |
R546H |
probably damaging |
Het |
| Man2a2 |
C |
T |
7: 80,009,023 (GRCm39) |
|
probably null |
Het |
| Mme |
A |
G |
3: 63,254,613 (GRCm39) |
N491S |
probably benign |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Msi2 |
T |
C |
11: 88,608,185 (GRCm39) |
D39G |
possibly damaging |
Het |
| Naa60 |
T |
A |
16: 3,718,585 (GRCm39) |
C122* |
probably null |
Het |
| Nes |
A |
G |
3: 87,884,120 (GRCm39) |
E793G |
probably damaging |
Het |
| Nfkb2 |
A |
G |
19: 46,296,878 (GRCm39) |
D316G |
probably damaging |
Het |
| Nme6 |
C |
T |
9: 109,671,122 (GRCm39) |
L121F |
probably damaging |
Het |
| Or4k47 |
T |
A |
2: 111,451,493 (GRCm39) |
K309* |
probably null |
Het |
| Otud1 |
C |
T |
2: 19,664,146 (GRCm39) |
T425I |
probably damaging |
Het |
| Pimreg |
T |
C |
11: 71,935,964 (GRCm39) |
V149A |
probably benign |
Het |
| Plbd1 |
T |
C |
6: 136,590,856 (GRCm39) |
I437V |
probably damaging |
Het |
| Prlhr |
A |
T |
19: 60,455,519 (GRCm39) |
M349K |
probably benign |
Het |
| Slc1a3 |
G |
A |
15: 8,668,579 (GRCm39) |
T462I |
probably damaging |
Het |
| Slc25a26 |
A |
G |
6: 94,575,384 (GRCm39) |
T198A |
probably damaging |
Het |
| Stkld1 |
A |
G |
2: 26,836,638 (GRCm39) |
N268S |
probably benign |
Het |
| Svop |
T |
C |
5: 114,183,688 (GRCm39) |
T195A |
probably damaging |
Het |
| Tas2r129 |
A |
G |
6: 132,928,317 (GRCm39) |
I85V |
probably benign |
Het |
| Tent5a |
A |
G |
9: 85,207,100 (GRCm39) |
S233P |
probably damaging |
Het |
| Tprn |
T |
C |
2: 25,158,904 (GRCm39) |
S643P |
probably damaging |
Het |
| Ush2a |
C |
T |
1: 188,285,473 (GRCm39) |
T2003I |
possibly damaging |
Het |
| Vmn2r17 |
T |
A |
5: 109,576,335 (GRCm39) |
V402E |
probably damaging |
Het |
| Vmn2r3 |
C |
G |
3: 64,182,692 (GRCm39) |
G336R |
probably damaging |
Het |
| Wdr89 |
A |
T |
12: 75,679,521 (GRCm39) |
D244E |
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 |
|
R0587:Syt6
|
UTSW |
3 |
103,532,887 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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'- CCTCGCCGTGGTAGTTATTG -3'
(R):5'- TTAGTTCTGGGCCCTGATCC -3'
Sequencing Primer
(F):5'- AAGCTGTGCTGGATGCC -3'
(R):5'- ATCCTCAGGGGCTGGGATCTAC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation