Incidental Mutation 'R2655:Syt4'
| ID |
252698 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Syt4
|
| Ensembl Gene |
ENSMUSG00000024261 |
| Gene Name |
synaptotagmin IV |
| Synonyms |
|
| MMRRC Submission |
040430-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2655 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
31570861-31580459 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 31576597 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 252
(D252E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025110
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025110]
|
| AlphaFold |
P40749 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025110
AA Change: D252E
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000025110
Gene: ENSMUSG00000024261
AA Change: D252E
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
68 |
79 |
N/A |
INTRINSIC |
|
low complexity region
|
137 |
150 |
N/A |
INTRINSIC |
|
C2
|
169 |
273 |
1.5e-19 |
SMART |
|
C2
|
303 |
417 |
3.5e-20 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181067
|
| Meta Mutation Damage Score |
0.2128 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
100% (39/39) |
| MGI Phenotype |
FUNCTION: The protein encoded by this gene belongs to the synaptotagmin family. Members of this family are multi-domained, integral membrane proteins of synaptic vesicles, and are thought to serve as Ca2+ sensors in the process of vesicular trafficking and exocytosis. This gene is primarily expressed in the nervous tissues. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit impairments in motor coordination, contextual fear conditioning, and social transmission of food preference. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(1) : Targeted, knock-out(1) |
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot5 |
T |
A |
12: 84,122,650 (GRCm39) |
S411R |
probably benign |
Het |
| Adamts12 |
A |
T |
15: 11,065,174 (GRCm39) |
N20Y |
possibly damaging |
Het |
| Bbs9 |
G |
A |
9: 22,415,348 (GRCm39) |
E91K |
probably damaging |
Het |
| Casp4 |
C |
A |
9: 5,322,894 (GRCm39) |
L57I |
possibly damaging |
Het |
| Cat |
T |
C |
2: 103,302,191 (GRCm39) |
K169E |
probably damaging |
Het |
| Cav1 |
A |
G |
6: 17,339,359 (GRCm39) |
Y148C |
probably damaging |
Het |
| Cep112 |
T |
C |
11: 108,328,027 (GRCm39) |
|
probably benign |
Het |
| Chaf1b |
T |
C |
16: 93,688,399 (GRCm39) |
S165P |
probably damaging |
Het |
| Crat |
A |
G |
2: 30,292,703 (GRCm39) |
S115P |
probably damaging |
Het |
| Eif2b1 |
A |
G |
5: 124,714,917 (GRCm39) |
S120P |
probably damaging |
Het |
| Epor |
A |
G |
9: 21,872,016 (GRCm39) |
S236P |
probably damaging |
Het |
| Ggt1 |
T |
A |
10: 75,417,219 (GRCm39) |
Y5* |
probably null |
Het |
| Igfbpl1 |
T |
C |
4: 45,816,289 (GRCm39) |
T179A |
probably damaging |
Het |
| Ighv14-4 |
T |
G |
12: 114,140,068 (GRCm39) |
Y114S |
probably damaging |
Het |
| Ipcef1 |
T |
C |
10: 6,929,657 (GRCm39) |
I29V |
probably benign |
Het |
| Junb |
A |
G |
8: 85,704,137 (GRCm39) |
S308P |
probably damaging |
Het |
| Kcnh5 |
T |
C |
12: 75,161,314 (GRCm39) |
E198G |
probably damaging |
Het |
| Ltbp1 |
G |
A |
17: 75,312,978 (GRCm39) |
R33H |
possibly damaging |
Het |
| Map3k20 |
C |
A |
2: 72,263,764 (GRCm39) |
T471K |
probably damaging |
Het |
| Nr2c2 |
C |
T |
6: 92,140,119 (GRCm39) |
R464W |
probably damaging |
Het |
| Odad4 |
T |
A |
11: 100,444,405 (GRCm39) |
W237R |
probably damaging |
Het |
| Or51a10 |
T |
C |
7: 103,698,638 (GRCm39) |
M308V |
probably benign |
Het |
| Or8g35 |
A |
T |
9: 39,381,924 (GRCm39) |
S33T |
probably benign |
Het |
| Patj |
T |
C |
4: 98,325,687 (GRCm39) |
V508A |
possibly damaging |
Het |
| Pkd1 |
T |
C |
17: 24,795,464 (GRCm39) |
V2319A |
probably damaging |
Het |
| Pnpla7 |
A |
G |
2: 24,942,330 (GRCm39) |
Y83C |
probably damaging |
Het |
| Prb1a |
G |
C |
6: 132,187,425 (GRCm39) |
Q19E |
unknown |
Het |
| Rasa3 |
T |
C |
8: 13,645,373 (GRCm39) |
T189A |
possibly damaging |
Het |
| Reck |
T |
A |
4: 43,938,966 (GRCm39) |
D777E |
probably benign |
Het |
| Rfx6 |
A |
G |
10: 51,569,873 (GRCm39) |
|
probably benign |
Het |
| Serpinb13 |
A |
G |
1: 106,928,157 (GRCm39) |
D259G |
probably damaging |
Het |
| Slit2 |
G |
A |
5: 48,346,917 (GRCm39) |
R253Q |
possibly damaging |
Het |
| Slu7 |
A |
G |
11: 43,331,475 (GRCm39) |
E203G |
probably benign |
Het |
| Tpte |
A |
G |
8: 22,801,294 (GRCm39) |
|
probably null |
Het |
| Ttll7 |
A |
G |
3: 146,653,376 (GRCm39) |
Y729C |
probably damaging |
Het |
| Usp35 |
T |
A |
7: 96,961,354 (GRCm39) |
T691S |
probably benign |
Het |
| Vmn1r211 |
A |
G |
13: 23,036,586 (GRCm39) |
V27A |
probably benign |
Het |
| Vmn2r72 |
T |
C |
7: 85,400,477 (GRCm39) |
T191A |
possibly damaging |
Het |
| Vwa5b1 |
C |
T |
4: 138,321,614 (GRCm39) |
G393D |
probably damaging |
Het |
|
| Other mutations in Syt4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00971:Syt4
|
APN |
18 |
31,580,227 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL01476:Syt4
|
APN |
18 |
31,574,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02412:Syt4
|
APN |
18 |
31,576,896 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02550:Syt4
|
APN |
18 |
31,577,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02996:Syt4
|
APN |
18 |
31,577,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
F6893:Syt4
|
UTSW |
18 |
31,577,274 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
PIT4434001:Syt4
|
UTSW |
18 |
31,573,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0103:Syt4
|
UTSW |
18 |
31,580,273 (GRCm39) |
start gained |
probably benign |
|
|
R0526:Syt4
|
UTSW |
18 |
31,576,799 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1122:Syt4
|
UTSW |
18 |
31,573,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1622:Syt4
|
UTSW |
18 |
31,577,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1786:Syt4
|
UTSW |
18 |
31,576,496 (GRCm39) |
splice site |
probably benign |
|
|
R1895:Syt4
|
UTSW |
18 |
31,577,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2114:Syt4
|
UTSW |
18 |
31,573,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2117:Syt4
|
UTSW |
18 |
31,573,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3079:Syt4
|
UTSW |
18 |
31,574,738 (GRCm39) |
missense |
probably benign |
0.08 |
|
R3730:Syt4
|
UTSW |
18 |
31,577,189 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4870:Syt4
|
UTSW |
18 |
31,580,409 (GRCm39) |
start gained |
probably benign |
|
|
R7638:Syt4
|
UTSW |
18 |
31,576,875 (GRCm39) |
missense |
probably benign |
0.20 |
|
R7646:Syt4
|
UTSW |
18 |
31,574,658 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7746:Syt4
|
UTSW |
18 |
31,577,318 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7799:Syt4
|
UTSW |
18 |
31,573,245 (GRCm39) |
nonsense |
probably null |
|
|
R8174:Syt4
|
UTSW |
18 |
31,577,230 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8199:Syt4
|
UTSW |
18 |
31,577,268 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8428:Syt4
|
UTSW |
18 |
31,577,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8436:Syt4
|
UTSW |
18 |
31,573,472 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8487:Syt4
|
UTSW |
18 |
31,576,790 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
Y5404:Syt4
|
UTSW |
18 |
31,576,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTCTCAGCTTACTATTACCCACAG -3'
(R):5'- GCAATCCATGACCTCTGACC -3'
Sequencing Primer
(F):5'- TGTGTACCAACTCATCATTTGAATG -3'
(R):5'- TGACCTCTGACCCGTACATCAAAATG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation