Incidental Mutation 'R2429:Syt1'
| ID |
250351 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Syt1
|
| Ensembl Gene |
ENSMUSG00000035864 |
| Gene Name |
synaptotagmin I |
| Synonyms |
G630098F17Rik |
| MMRRC Submission |
040391-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2429 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
108333511-108846843 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 108526781 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 43
(K43E)
|
| 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: K43E
PolyPhen 2
Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000063293
Gene: ENSMUSG00000035864
AA Change: K43E
| 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: K43E
PolyPhen 2
Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000100912
Gene: ENSMUSG00000035864
AA Change: K43E
| 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: 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 |
0.0849 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.3%
|
| Validation Efficiency |
100% (34/34) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930470P17Rik |
A |
T |
2: 170,421,745 (GRCm39) |
M45K |
unknown |
Het |
| Abcd3 |
A |
G |
3: 121,586,512 (GRCm39) |
F63L |
probably damaging |
Het |
| Acsm3 |
A |
T |
7: 119,367,223 (GRCm39) |
M19L |
probably benign |
Het |
| Actn4 |
T |
C |
7: 28,597,496 (GRCm39) |
K41E |
probably benign |
Het |
| Atp8b3 |
T |
A |
10: 80,362,728 (GRCm39) |
I677L |
probably benign |
Het |
| Auh |
C |
T |
13: 53,073,052 (GRCm39) |
G110R |
probably damaging |
Het |
| Batf2 |
A |
G |
19: 6,221,538 (GRCm39) |
Y116C |
probably damaging |
Het |
| Cntn6 |
T |
C |
6: 104,627,526 (GRCm39) |
Y120H |
possibly damaging |
Het |
| Gnpat |
T |
C |
8: 125,603,758 (GRCm39) |
F212S |
probably damaging |
Het |
| Gpd1 |
A |
G |
15: 99,618,488 (GRCm39) |
M181V |
probably benign |
Het |
| Itgb3 |
A |
T |
11: 104,527,914 (GRCm39) |
K216N |
probably damaging |
Het |
| Kif21a |
G |
A |
15: 90,882,208 (GRCm39) |
T32M |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,326,377 (GRCm39) |
V3477A |
probably damaging |
Het |
| Mettl13 |
A |
T |
1: 162,373,894 (GRCm39) |
L119* |
probably null |
Het |
| Myg1 |
G |
C |
15: 102,246,171 (GRCm39) |
G349R |
probably damaging |
Het |
| Myh8 |
A |
G |
11: 67,194,723 (GRCm39) |
N1645D |
probably benign |
Het |
| Myo6 |
T |
C |
9: 80,210,583 (GRCm39) |
|
probably null |
Het |
| Npffr2 |
A |
T |
5: 89,731,006 (GRCm39) |
Y312F |
probably damaging |
Het |
| Pla2r1 |
C |
A |
2: 60,345,312 (GRCm39) |
C348F |
probably damaging |
Het |
| Plcb1 |
A |
G |
2: 135,179,362 (GRCm39) |
N590S |
probably damaging |
Het |
| Prpsap1 |
G |
A |
11: 116,363,061 (GRCm39) |
T314M |
probably damaging |
Het |
| Prss35 |
T |
C |
9: 86,637,398 (GRCm39) |
V56A |
probably benign |
Het |
| Setx |
T |
C |
2: 29,069,910 (GRCm39) |
S2572P |
probably benign |
Het |
| Sf3b1 |
T |
C |
1: 55,055,960 (GRCm39) |
D93G |
possibly damaging |
Het |
| Slc26a7 |
C |
A |
4: 14,506,399 (GRCm39) |
|
probably benign |
Het |
| Slc39a12 |
T |
G |
2: 14,409,897 (GRCm39) |
S298A |
probably benign |
Het |
| Sorl1 |
G |
T |
9: 41,948,366 (GRCm39) |
D806E |
probably damaging |
Het |
| Trmt1l |
T |
A |
1: 151,309,581 (GRCm39) |
L88Q |
probably damaging |
Het |
| Zfp334 |
G |
A |
2: 165,222,432 (GRCm39) |
T537I |
probably damaging |
Het |
| Zfp574 |
T |
A |
7: 24,779,482 (GRCm39) |
L168* |
probably null |
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 |
|
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 |
|
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'- GGCACTACTGTTATCAGAGAAACAG -3'
(R):5'- GCATGGCGTTCTGAATTGGC -3'
Sequencing Primer
(F):5'- TCAGAGAAACAGAAAATGAAGGATC -3'
(R):5'- GCGTTCTGAATTGGCTTTCTC -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation