Incidental Mutation 'R1067:Syt1'
ID |
86057 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Syt1
|
Ensembl Gene |
ENSMUSG00000035864 |
Gene Name |
synaptotagmin I |
Synonyms |
G630098F17Rik |
MMRRC Submission |
039153-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1067 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
108333511-108846843 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 108472523 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 120
(D120E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000100912
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064054]
[ENSMUST00000105276]
|
AlphaFold |
P46096 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000064054
AA Change: D120E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000063293 Gene: ENSMUSG00000035864 AA Change: D120E
Domain | Start | End | E-Value | Type |
low complexity region
|
9 |
22 |
N/A |
INTRINSIC |
PDB:4ISQ|F
|
32 |
52 |
1e-5 |
PDB |
transmembrane domain
|
57 |
79 |
N/A |
INTRINSIC |
low complexity region
|
131 |
141 |
N/A |
INTRINSIC |
C2
|
157 |
259 |
3.2e-25 |
SMART |
C2
|
288 |
402 |
5.8e-26 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105276
AA Change: D120E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000100912 Gene: ENSMUSG00000035864 AA Change: D120E
Domain | Start | End | E-Value | Type |
low complexity region
|
9 |
22 |
N/A |
INTRINSIC |
PDB:4ISQ|F
|
32 |
52 |
1e-5 |
PDB |
transmembrane domain
|
57 |
79 |
N/A |
INTRINSIC |
low complexity region
|
131 |
141 |
N/A |
INTRINSIC |
C2
|
157 |
259 |
3.2e-25 |
SMART |
C2
|
288 |
402 |
5.9e-26 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147593
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156979
|
SMART Domains |
Protein: ENSMUSP00000116981 Gene: ENSMUSG00000035864
Domain | Start | End | E-Value | Type |
low complexity region
|
9 |
22 |
N/A |
INTRINSIC |
PDB:4ISQ|F
|
32 |
52 |
7e-6 |
PDB |
transmembrane domain
|
57 |
79 |
N/A |
INTRINSIC |
low complexity region
|
128 |
138 |
N/A |
INTRINSIC |
C2
|
154 |
236 |
2.83e-6 |
SMART |
|
Meta Mutation Damage Score |
0.0592 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 94.7%
|
Validation Efficiency |
100% (40/40) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The synaptotagmins are integral membrane proteins of synaptic vesicles thought to serve as Ca(2+) sensors in the process of vesicular trafficking and exocytosis. Calcium binding to synaptotagmin-1 participates in triggering neurotransmitter release at the synapse (Fernandez-Chacon et al., 2001 [PubMed 11242035]).[supplied by OMIM, Jul 2010] PHENOTYPE: Homozygous null mice do not suckle, show impaired synaptic transmission and Ca2+-evoked neurotransmitter release, and die by 48 hrs of life. Knock-in mice bearing a missense mutation show enhanced synaptic depression while those carrying a point mutationshow reduced synaptic release probability. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ablim3 |
A |
G |
18: 61,957,018 (GRCm39) |
|
probably benign |
Het |
Adam24 |
T |
A |
8: 41,133,793 (GRCm39) |
C420* |
probably null |
Het |
Atp12a |
G |
A |
14: 56,610,893 (GRCm39) |
G346S |
probably damaging |
Het |
Bpifa3 |
A |
T |
2: 153,979,529 (GRCm39) |
Q218L |
probably damaging |
Het |
Cntrl |
T |
C |
2: 35,039,034 (GRCm39) |
|
probably benign |
Het |
Defb41 |
A |
G |
1: 18,335,248 (GRCm39) |
|
probably null |
Het |
Edc4 |
C |
A |
8: 106,617,637 (GRCm39) |
T1094K |
probably damaging |
Het |
Exoc4 |
T |
A |
6: 33,895,359 (GRCm39) |
I792N |
possibly damaging |
Het |
G3bp2 |
A |
T |
5: 92,211,187 (GRCm39) |
|
probably benign |
Het |
Herc6 |
T |
A |
6: 57,639,204 (GRCm39) |
N888K |
probably damaging |
Het |
Iqgap1 |
G |
A |
7: 80,373,576 (GRCm39) |
T1471M |
probably benign |
Het |
Kpna6 |
G |
T |
4: 129,541,896 (GRCm39) |
H500Q |
probably benign |
Het |
Krt78 |
G |
A |
15: 101,854,896 (GRCm39) |
Q972* |
probably null |
Het |
Krtap9-5 |
T |
A |
11: 99,839,589 (GRCm39) |
C97S |
unknown |
Het |
Mapk10 |
T |
A |
5: 103,139,723 (GRCm39) |
|
probably benign |
Het |
Mybphl |
A |
G |
3: 108,272,319 (GRCm39) |
T3A |
probably benign |
Het |
Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
Oca2 |
A |
G |
7: 55,966,141 (GRCm39) |
I378V |
probably damaging |
Het |
Or7a39 |
T |
A |
10: 78,715,517 (GRCm39) |
C170* |
probably null |
Het |
Pax6 |
C |
A |
2: 105,510,646 (GRCm39) |
Q2K |
probably benign |
Het |
Plxna2 |
C |
A |
1: 194,462,818 (GRCm39) |
|
probably null |
Het |
Ppp1r13b |
A |
G |
12: 111,801,550 (GRCm39) |
L378P |
probably damaging |
Het |
Prkdc |
G |
A |
16: 15,570,646 (GRCm39) |
E2310K |
probably damaging |
Het |
Pth2r |
G |
A |
1: 65,411,507 (GRCm39) |
G348E |
possibly damaging |
Het |
Rarb |
T |
C |
14: 16,436,769 (GRCm38) |
I251V |
probably damaging |
Het |
Rasa2 |
A |
G |
9: 96,434,376 (GRCm39) |
L637P |
probably damaging |
Het |
Sucla2 |
C |
T |
14: 73,798,074 (GRCm39) |
|
probably benign |
Het |
Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
Tmbim1 |
A |
G |
1: 74,329,905 (GRCm39) |
|
probably benign |
Het |
Tnfrsf25 |
G |
A |
4: 152,202,745 (GRCm39) |
C191Y |
probably damaging |
Het |
Tnn |
T |
C |
1: 159,952,968 (GRCm39) |
K691E |
probably damaging |
Het |
Trim7 |
T |
A |
11: 48,728,646 (GRCm39) |
V98E |
probably damaging |
Het |
Tspan3 |
A |
G |
9: 56,068,104 (GRCm39) |
F15L |
probably benign |
Het |
Uap1l1 |
A |
G |
2: 25,252,759 (GRCm39) |
L427S |
probably damaging |
Het |
Upf1 |
A |
C |
8: 70,791,053 (GRCm39) |
M574R |
probably damaging |
Het |
Ush2a |
T |
A |
1: 188,282,404 (GRCm39) |
V1931E |
probably benign |
Het |
Zfp3 |
T |
C |
11: 70,663,411 (GRCm39) |
S457P |
probably damaging |
Het |
|
Other mutations in Syt1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01793:Syt1
|
APN |
10 |
108,419,836 (GRCm39) |
missense |
possibly damaging |
0.49 |
R1300:Syt1
|
UTSW |
10 |
108,467,682 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1370:Syt1
|
UTSW |
10 |
108,526,783 (GRCm39) |
missense |
probably damaging |
0.98 |
R1575:Syt1
|
UTSW |
10 |
108,340,361 (GRCm39) |
missense |
probably benign |
0.04 |
R1656:Syt1
|
UTSW |
10 |
108,419,776 (GRCm39) |
missense |
probably damaging |
1.00 |
R2072:Syt1
|
UTSW |
10 |
108,419,833 (GRCm39) |
missense |
probably damaging |
1.00 |
R2212:Syt1
|
UTSW |
10 |
108,340,275 (GRCm39) |
missense |
possibly damaging |
0.89 |
R2429:Syt1
|
UTSW |
10 |
108,526,781 (GRCm39) |
missense |
possibly damaging |
0.86 |
R4928:Syt1
|
UTSW |
10 |
108,340,373 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5216:Syt1
|
UTSW |
10 |
108,478,118 (GRCm39) |
missense |
probably benign |
0.00 |
R6161:Syt1
|
UTSW |
10 |
108,467,668 (GRCm39) |
missense |
probably damaging |
1.00 |
R6193:Syt1
|
UTSW |
10 |
108,336,597 (GRCm39) |
missense |
probably benign |
0.38 |
R7033:Syt1
|
UTSW |
10 |
108,526,797 (GRCm39) |
missense |
probably benign |
|
R7535:Syt1
|
UTSW |
10 |
108,463,283 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7574:Syt1
|
UTSW |
10 |
108,340,262 (GRCm39) |
missense |
probably damaging |
1.00 |
R7913:Syt1
|
UTSW |
10 |
108,478,109 (GRCm39) |
missense |
probably benign |
0.00 |
R8003:Syt1
|
UTSW |
10 |
108,472,434 (GRCm39) |
missense |
probably damaging |
1.00 |
R8829:Syt1
|
UTSW |
10 |
108,478,193 (GRCm39) |
missense |
probably benign |
0.07 |
R9114:Syt1
|
UTSW |
10 |
108,340,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TTTCCGCTCACAGCAAACGAAATG -3'
(R):5'- GCTACGAGAATGTGAAACCCAGCC -3'
Sequencing Primer
(F):5'- AGGAGTATCTTGCTTCAATTCCTAC -3'
(R):5'- TGCTTGCTTCAGACAGCT -3'
|
Posted On |
2013-11-18 |