Incidental Mutation 'IGL00838:Syt6'
| ID |
14332 |
| 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 # |
IGL00838
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
103482561-103552883 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 103532942 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 357
(M357K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112486
(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: M442K
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000088196
Gene: ENSMUSG00000027849
AA Change: M442K
| 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: M357K
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000113373
Gene: ENSMUSG00000027849
AA Change: M357K
| 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: M357K
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000112486
Gene: ENSMUSG00000027849
AA Change: M357K
| 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: M442K
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000112997
Gene: ENSMUSG00000027849
AA Change: M442K
| 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
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano7 |
C |
A |
1: 93,330,479 (GRCm39) |
N834K |
possibly damaging |
Het |
| Armc10 |
T |
A |
5: 21,866,579 (GRCm39) |
V281E |
probably damaging |
Het |
| Baat |
A |
T |
4: 49,490,352 (GRCm39) |
M244K |
probably damaging |
Het |
| Cryz |
T |
A |
3: 154,324,112 (GRCm39) |
C166S |
probably damaging |
Het |
| D430041D05Rik |
T |
A |
2: 104,031,648 (GRCm39) |
K1649N |
probably damaging |
Het |
| Dennd5b |
T |
C |
6: 148,906,861 (GRCm39) |
|
probably benign |
Het |
| Dock8 |
A |
T |
19: 25,152,823 (GRCm39) |
R1630* |
probably null |
Het |
| Gstm5 |
A |
G |
3: 107,804,874 (GRCm39) |
N122S |
probably benign |
Het |
| Klra5 |
C |
A |
6: 129,888,322 (GRCm39) |
G35C |
possibly damaging |
Het |
| Klrb1f |
G |
A |
6: 129,031,279 (GRCm39) |
V159I |
possibly damaging |
Het |
| Mgl2 |
A |
T |
11: 70,025,038 (GRCm39) |
M14L |
probably benign |
Het |
| Mob1a |
C |
T |
6: 83,315,313 (GRCm39) |
R78C |
possibly damaging |
Het |
| Pigo |
C |
T |
4: 43,021,767 (GRCm39) |
A392T |
possibly damaging |
Het |
| Polr3a |
A |
T |
14: 24,525,931 (GRCm39) |
N436K |
probably benign |
Het |
| Prokr1 |
T |
C |
6: 87,565,675 (GRCm39) |
T57A |
possibly damaging |
Het |
| Ror1 |
T |
G |
4: 100,190,940 (GRCm39) |
V99G |
probably damaging |
Het |
| Ryr2 |
A |
T |
13: 11,583,389 (GRCm39) |
I4755N |
probably damaging |
Het |
| Senp5 |
T |
C |
16: 31,807,991 (GRCm39) |
D394G |
probably damaging |
Het |
| Skic3 |
T |
C |
13: 76,282,910 (GRCm39) |
L744P |
probably damaging |
Het |
| Speg |
A |
G |
1: 75,387,034 (GRCm39) |
I1318V |
possibly damaging |
Het |
| Tex11 |
A |
T |
X: 100,015,724 (GRCm39) |
I328N |
possibly damaging |
Het |
| Vnn1 |
T |
C |
10: 23,776,677 (GRCm39) |
F343L |
possibly damaging |
Het |
| Wdr72 |
A |
T |
9: 74,062,411 (GRCm39) |
E519V |
probably damaging |
Het |
|
| Other mutations in Syt6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2012-12-06 |
Incidental Mutation