Incidental Mutation 'IGL01793:Syt1'
ID |
155274 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Syt1
|
Ensembl Gene |
ENSMUSG00000035864 |
Gene Name |
synaptotagmin I |
Synonyms |
G630098F17Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01793
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
108333511-108846843 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 108419836 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 275
(D275G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000100912
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064054]
[ENSMUST00000105276]
|
AlphaFold |
P46096 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000064054
AA Change: D275G
PolyPhen 2
Score 0.490 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000063293 Gene: ENSMUSG00000035864 AA Change: D275G
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 |
possibly damaging
Transcript: ENSMUST00000105276
AA Change: D275G
PolyPhen 2
Score 0.490 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000100912 Gene: ENSMUSG00000035864 AA Change: D275G
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aox1 |
A |
G |
1: 58,375,783 (GRCm39) |
I871V |
possibly damaging |
Het |
Bbs7 |
A |
T |
3: 36,659,831 (GRCm39) |
|
probably null |
Het |
D930020B18Rik |
T |
C |
10: 121,507,736 (GRCm39) |
I158T |
probably damaging |
Het |
Drc7 |
T |
C |
8: 95,797,905 (GRCm39) |
I441T |
probably benign |
Het |
Etl4 |
T |
C |
2: 20,748,709 (GRCm39) |
I147T |
possibly damaging |
Het |
Fat1 |
G |
A |
8: 45,442,149 (GRCm39) |
M1150I |
probably benign |
Het |
Fbn1 |
T |
C |
2: 125,229,213 (GRCm39) |
S523G |
possibly damaging |
Het |
Gramd1a |
C |
T |
7: 30,833,838 (GRCm39) |
|
probably null |
Het |
Hc |
A |
G |
2: 34,918,202 (GRCm39) |
Y694H |
probably damaging |
Het |
Kif6 |
T |
A |
17: 49,931,521 (GRCm39) |
I73N |
probably damaging |
Het |
Large1 |
A |
G |
8: 73,585,809 (GRCm39) |
|
probably benign |
Het |
Luzp2 |
G |
T |
7: 54,821,997 (GRCm39) |
L171F |
probably damaging |
Het |
Naaladl1 |
C |
A |
19: 6,159,661 (GRCm39) |
|
probably null |
Het |
Otop1 |
G |
A |
5: 38,457,215 (GRCm39) |
A325T |
possibly damaging |
Het |
Parp8 |
T |
A |
13: 117,047,415 (GRCm39) |
Y219F |
probably damaging |
Het |
Pkp3 |
A |
G |
7: 140,668,817 (GRCm39) |
I660V |
probably benign |
Het |
Plin3 |
T |
C |
17: 56,588,540 (GRCm39) |
N238S |
probably benign |
Het |
Ppef2 |
A |
T |
5: 92,394,615 (GRCm39) |
D186E |
probably damaging |
Het |
Rab40c |
G |
A |
17: 26,103,596 (GRCm39) |
L156F |
probably damaging |
Het |
Scnn1a |
T |
C |
6: 125,320,666 (GRCm39) |
V547A |
probably benign |
Het |
Spag6l |
A |
G |
16: 16,599,721 (GRCm39) |
V247A |
probably damaging |
Het |
Syne1 |
T |
C |
10: 5,302,191 (GRCm39) |
E853G |
possibly damaging |
Het |
Synj2 |
C |
T |
17: 6,077,500 (GRCm39) |
R460* |
probably null |
Het |
Synj2 |
T |
A |
17: 6,088,321 (GRCm39) |
H1457Q |
probably benign |
Het |
Tmx1 |
A |
G |
12: 70,505,561 (GRCm39) |
D108G |
probably benign |
Het |
Vmn1r180 |
T |
C |
7: 23,652,668 (GRCm39) |
V277A |
probably benign |
Het |
Vmn1r83 |
C |
T |
7: 12,055,504 (GRCm39) |
M184I |
probably benign |
Het |
Zfp750 |
G |
T |
11: 121,404,810 (GRCm39) |
P22T |
probably damaging |
Het |
Zscan2 |
A |
G |
7: 80,524,692 (GRCm39) |
I138V |
probably null |
Het |
|
Other mutations in Syt1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R1067:Syt1
|
UTSW |
10 |
108,472,523 (GRCm39) |
missense |
probably benign |
|
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 |
|
Posted On |
2014-02-04 |