Incidental Mutation 'R4495:Syt6'
| ID |
330922 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Syt6
|
| Ensembl Gene |
ENSMUSG00000027849 |
| Gene Name |
synaptotagmin VI |
| Synonyms |
3110037A08Rik |
| MMRRC Submission |
041583-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.123)
|
| Stock # |
R4495 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
103482561-103552883 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 103494876 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 280
(C280*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112997
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090697]
[ENSMUST00000117221]
[ENSMUST00000118117]
[ENSMUST00000118563]
[ENSMUST00000121834]
[ENSMUST00000132325]
[ENSMUST00000136049]
[ENSMUST00000151985]
[ENSMUST00000183637]
|
| AlphaFold |
Q9R0N8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000090697
AA Change: C280*
|
| SMART Domains |
Protein: ENSMUSP00000088196
Gene: ENSMUSG00000027849
AA Change: C280*
| 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 null
Transcript: ENSMUST00000117221
AA Change: C195*
|
| SMART Domains |
Protein: ENSMUSP00000113373
Gene: ENSMUSG00000027849
AA Change: C195*
| 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 null
Transcript: ENSMUST00000118117
AA Change: C195*
|
| SMART Domains |
Protein: ENSMUSP00000112486
Gene: ENSMUSG00000027849
AA Change: C195*
| 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 null
Transcript: ENSMUST00000118563
AA Change: C195*
|
| SMART Domains |
Protein: ENSMUSP00000113287
Gene: ENSMUSG00000027849
AA Change: C195*
| 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 null
Transcript: ENSMUST00000121834
AA Change: C280*
|
| SMART Domains |
Protein: ENSMUSP00000112997
Gene: ENSMUSG00000027849
AA Change: C280*
| 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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183637
|
| SMART Domains |
Protein: ENSMUSP00000138874
Gene: ENSMUSG00000027849
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
18 |
N/A |
INTRINSIC |
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Calcr |
A |
T |
6: 3,708,484 (GRCm39) |
|
probably null |
Het |
| Cdh4 |
T |
C |
2: 179,422,182 (GRCm39) |
V102A |
probably damaging |
Het |
| Cmya5 |
T |
C |
13: 93,230,573 (GRCm39) |
E1505G |
probably benign |
Het |
| Cyp2b9 |
T |
A |
7: 25,900,180 (GRCm39) |
D329E |
probably benign |
Het |
| Ddx47 |
T |
C |
6: 134,998,429 (GRCm39) |
F375S |
possibly damaging |
Het |
| Dnah7b |
T |
G |
1: 46,124,792 (GRCm39) |
S154A |
probably benign |
Het |
| Fry |
G |
T |
5: 150,233,928 (GRCm39) |
E133D |
probably damaging |
Het |
| Hydin |
T |
C |
8: 111,322,034 (GRCm39) |
L4562P |
probably damaging |
Het |
| Ifnlr1 |
A |
T |
4: 135,433,079 (GRCm39) |
E505V |
probably damaging |
Het |
| Igfn1 |
T |
C |
1: 135,897,416 (GRCm39) |
E1050G |
possibly damaging |
Het |
| Kidins220 |
T |
A |
12: 25,088,301 (GRCm39) |
|
probably null |
Het |
| Klra10 |
T |
G |
6: 130,256,311 (GRCm39) |
E114D |
probably benign |
Het |
| Lyst |
G |
A |
13: 13,809,968 (GRCm39) |
R546H |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Mrgpra3 |
T |
C |
7: 47,239,813 (GRCm39) |
I38V |
probably benign |
Het |
| Nfkb2 |
A |
G |
19: 46,296,878 (GRCm39) |
D316G |
probably damaging |
Het |
| Nrxn2 |
A |
T |
19: 6,581,429 (GRCm39) |
T412S |
probably benign |
Het |
| Or4k37 |
T |
A |
2: 111,159,365 (GRCm39) |
N200K |
probably benign |
Het |
| Palm3 |
C |
T |
8: 84,753,495 (GRCm39) |
R97C |
probably damaging |
Het |
| Pdcd11 |
T |
C |
19: 47,099,445 (GRCm39) |
V848A |
probably benign |
Het |
| Prdx1 |
T |
C |
4: 116,556,416 (GRCm39) |
V188A |
probably benign |
Het |
| Prep |
T |
C |
10: 44,996,915 (GRCm39) |
F398L |
probably benign |
Het |
| Prlhr |
A |
T |
19: 60,455,519 (GRCm39) |
M349K |
probably benign |
Het |
| Rwdd2b |
T |
C |
16: 87,231,450 (GRCm39) |
T235A |
probably benign |
Het |
| Scn1a |
T |
C |
2: 66,111,146 (GRCm39) |
|
probably null |
Het |
| Sidt1 |
C |
T |
16: 44,102,841 (GRCm39) |
V295M |
probably damaging |
Het |
| Sla |
T |
C |
15: 66,673,361 (GRCm39) |
T10A |
probably benign |
Het |
| Slc22a20 |
A |
G |
19: 6,034,952 (GRCm39) |
S170P |
probably benign |
Het |
| Thbs2 |
A |
G |
17: 14,891,675 (GRCm39) |
I954T |
probably damaging |
Het |
| Tmprss11b |
T |
A |
5: 86,812,922 (GRCm39) |
K125* |
probably null |
Het |
| Ugt1a6a |
T |
A |
1: 88,066,905 (GRCm39) |
L237H |
probably damaging |
Het |
| Vmn2r68 |
TCC |
TC |
7: 84,870,758 (GRCm39) |
|
probably null |
Het |
| Wdr53 |
A |
G |
16: 32,070,969 (GRCm39) |
T105A |
probably benign |
Het |
| Xkrx |
T |
C |
X: 133,051,745 (GRCm39) |
N302S |
possibly damaging |
Het |
| Zfp704 |
T |
A |
3: 9,536,137 (GRCm39) |
S128C |
probably benign |
Het |
| Zfp759 |
A |
G |
13: 67,286,989 (GRCm39) |
|
probably null |
Het |
| Zfyve16 |
A |
T |
13: 92,625,075 (GRCm39) |
D1494E |
probably benign |
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 |
|
R4494:Syt6
|
UTSW |
3 |
103,492,946 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- TATTGGCCGTATCAAGCCTGAG -3'
(R):5'- GAGATTGTCCAGGATGACCTC -3'
Sequencing Primer
(F):5'- CTTTACAAGCAGAAGTCAGTGG -3'
(R):5'- TCCCCAATCATGTCATGGCGG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation