Incidental Mutation 'IGL02944:Syt6'
| ID |
364668 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Syt6
|
| Ensembl Gene |
ENSMUSG00000027849 |
| Gene Name |
synaptotagmin VI |
| Synonyms |
3110037A08Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.123)
|
| Stock # |
IGL02944
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
103482561-103552883 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 103482865 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138874
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090697]
[ENSMUST00000117221]
[ENSMUST00000118117]
[ENSMUST00000118563]
[ENSMUST00000121834]
[ENSMUST00000132325]
[ENSMUST00000136049]
[ENSMUST00000151985]
[ENSMUST00000183637]
|
| AlphaFold |
Q9R0N8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090697
|
| SMART Domains |
Protein: ENSMUSP00000088196
Gene: ENSMUSG00000027849
| 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
|
| SMART Domains |
Protein: ENSMUSP00000113373
Gene: ENSMUSG00000027849
| 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
|
| SMART Domains |
Protein: ENSMUSP00000112486
Gene: ENSMUSG00000027849
| 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 benign
Transcript: ENSMUST00000121834
|
| SMART Domains |
Protein: ENSMUSP00000112997
Gene: ENSMUSG00000027849
| 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 |
unknown
Transcript: ENSMUST00000151985
AA Change: R58G
|
| 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 |
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap13 |
A |
G |
7: 75,258,405 (GRCm39) |
Q343R |
probably benign |
Het |
| Antxr1 |
T |
A |
6: 87,165,141 (GRCm39) |
N432I |
possibly damaging |
Het |
| Arhgap15 |
T |
C |
2: 44,032,362 (GRCm39) |
|
probably null |
Het |
| Atp6v1h |
T |
A |
1: 5,163,578 (GRCm39) |
|
probably benign |
Het |
| Cav2 |
T |
C |
6: 17,281,456 (GRCm39) |
Y33H |
probably damaging |
Het |
| Ccdc175 |
T |
A |
12: 72,164,667 (GRCm39) |
D585V |
probably benign |
Het |
| Coro7 |
T |
C |
16: 4,453,276 (GRCm39) |
D271G |
probably benign |
Het |
| Cylc1 |
T |
A |
X: 110,167,373 (GRCm39) |
D551E |
possibly damaging |
Het |
| Dnah1 |
A |
T |
14: 31,022,828 (GRCm39) |
I1103N |
possibly damaging |
Het |
| Gmds |
T |
A |
13: 32,522,435 (GRCm39) |
Y11F |
probably benign |
Het |
| Igkv13-54-1 |
C |
T |
6: 69,594,374 (GRCm39) |
|
noncoding transcript |
Het |
| Irf8 |
A |
G |
8: 121,481,864 (GRCm39) |
T318A |
probably benign |
Het |
| Lrrc40 |
G |
A |
3: 157,747,302 (GRCm39) |
|
probably benign |
Het |
| Mageb11 |
A |
G |
X: 89,935,868 (GRCm39) |
K41E |
probably benign |
Het |
| Mbd1 |
G |
A |
18: 74,410,481 (GRCm39) |
G428E |
probably damaging |
Het |
| Myom2 |
A |
T |
8: 15,154,065 (GRCm39) |
|
probably null |
Het |
| Nav2 |
C |
T |
7: 49,070,004 (GRCm39) |
R287W |
probably damaging |
Het |
| Nfs1 |
C |
T |
2: 155,969,688 (GRCm39) |
D320N |
probably damaging |
Het |
| Nlrp9a |
A |
T |
7: 26,258,076 (GRCm39) |
T565S |
probably benign |
Het |
| Nod1 |
A |
T |
6: 54,901,932 (GRCm39) |
I951N |
possibly damaging |
Het |
| Or1n1b |
T |
G |
2: 36,780,800 (GRCm39) |
E20A |
possibly damaging |
Het |
| Or2ag1b |
A |
G |
7: 106,288,476 (GRCm39) |
L154P |
probably damaging |
Het |
| Or52e8b |
A |
G |
7: 104,674,130 (GRCm39) |
L19P |
probably damaging |
Het |
| Or8d2 |
A |
T |
9: 38,760,048 (GRCm39) |
I213F |
possibly damaging |
Het |
| Pkhd1l1 |
T |
C |
15: 44,364,927 (GRCm39) |
Y689H |
probably damaging |
Het |
| Ppp2r5c |
A |
G |
12: 110,534,234 (GRCm39) |
I366V |
probably benign |
Het |
| Ppp3cb |
T |
C |
14: 20,578,303 (GRCm39) |
Y149C |
probably damaging |
Het |
| Prdm1 |
T |
C |
10: 44,317,807 (GRCm39) |
S354G |
probably benign |
Het |
| Ralgapa1 |
T |
A |
12: 55,804,736 (GRCm39) |
Q520L |
probably benign |
Het |
| Slc25a54 |
A |
T |
3: 108,987,931 (GRCm39) |
Y24F |
probably benign |
Het |
| Slfn3 |
T |
A |
11: 83,103,837 (GRCm39) |
V236E |
probably damaging |
Het |
| Trim30a |
G |
T |
7: 104,084,984 (GRCm39) |
N75K |
probably benign |
Het |
| Vmn1r175 |
T |
C |
7: 23,508,591 (GRCm39) |
E12G |
probably damaging |
Het |
| Xylt1 |
A |
T |
7: 117,233,984 (GRCm39) |
T504S |
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 |
|
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 |
|
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 |
|
|
| Posted On |
2015-12-18 |
Incidental Mutation