Incidental Mutation 'R7746:Syt4'
| ID |
596868 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Syt4
|
| Ensembl Gene |
ENSMUSG00000024261 |
| Gene Name |
synaptotagmin IV |
| Synonyms |
|
| MMRRC Submission |
045802-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7746 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
31570861-31580459 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 31577318 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 12
(D12V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025110
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025110]
|
| AlphaFold |
P40749 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025110
AA Change: D12V
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000025110
Gene: ENSMUSG00000024261
AA Change: D12V
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
A |
T |
2: 68,559,339 (GRCm39) |
Q184L |
probably benign |
Het |
| 9030624G23Rik |
T |
G |
12: 24,124,674 (GRCm39) |
S68R |
possibly damaging |
Het |
| Acyp1 |
G |
T |
12: 85,325,832 (GRCm39) |
R56S |
unknown |
Het |
| Angpt2 |
C |
T |
8: 18,742,080 (GRCm39) |
R492Q |
probably damaging |
Het |
| Ankrd36 |
T |
C |
11: 5,637,451 (GRCm39) |
L1340P |
possibly damaging |
Het |
| Arhgef33 |
G |
C |
17: 80,654,549 (GRCm39) |
|
probably null |
Het |
| Bach1 |
G |
A |
16: 87,526,521 (GRCm39) |
S661N |
probably benign |
Het |
| Bik |
T |
C |
15: 83,425,535 (GRCm39) |
I12T |
possibly damaging |
Het |
| C3 |
C |
T |
17: 57,525,859 (GRCm39) |
R841H |
probably damaging |
Het |
| Cacna1s |
G |
T |
1: 135,996,756 (GRCm39) |
R119L |
probably damaging |
Het |
| Cic |
G |
A |
7: 24,988,207 (GRCm39) |
V1632M |
probably damaging |
Het |
| Ctif |
CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC |
CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC |
18: 75,604,874 (GRCm39) |
|
probably benign |
Het |
| Dchs2 |
A |
G |
3: 83,035,364 (GRCm39) |
H37R |
possibly damaging |
Het |
| Dvl1 |
A |
G |
4: 155,940,696 (GRCm39) |
I439V |
possibly damaging |
Het |
| Fat1 |
G |
A |
8: 45,404,670 (GRCm39) |
D474N |
probably damaging |
Het |
| Foxs1 |
T |
A |
2: 152,775,028 (GRCm39) |
E8D |
probably benign |
Het |
| Garnl3 |
T |
C |
2: 32,882,269 (GRCm39) |
D822G |
probably damaging |
Het |
| Gm44501 |
C |
T |
17: 40,889,720 (GRCm39) |
A78V |
possibly damaging |
Het |
| Gpr19 |
C |
A |
6: 134,846,355 (GRCm39) |
A443S |
probably damaging |
Het |
| Helb |
T |
C |
10: 119,931,007 (GRCm39) |
R729G |
probably null |
Het |
| Lnpep |
G |
T |
17: 17,758,824 (GRCm39) |
T840K |
probably benign |
Het |
| Mctp2 |
T |
C |
7: 71,835,544 (GRCm39) |
N551S |
probably benign |
Het |
| Mgam |
T |
G |
6: 40,645,127 (GRCm39) |
F635V |
probably damaging |
Het |
| Mlc1 |
G |
A |
15: 88,848,373 (GRCm39) |
A262V |
probably damaging |
Het |
| Msantd5f9 |
C |
T |
4: 73,838,099 (GRCm39) |
S29N |
possibly damaging |
Het |
| Muc5b |
A |
G |
7: 141,415,976 (GRCm39) |
Y2974C |
probably benign |
Het |
| Nprl3 |
A |
T |
11: 32,198,150 (GRCm39) |
Y208* |
probably null |
Het |
| Or2n1d |
C |
T |
17: 38,646,285 (GRCm39) |
P79L |
probably benign |
Het |
| Or8k40 |
A |
T |
2: 86,584,437 (GRCm39) |
L215Q |
probably damaging |
Het |
| Pkn2 |
A |
G |
3: 142,499,868 (GRCm39) |
F915S |
probably damaging |
Het |
| Pkn3 |
G |
A |
2: 29,980,596 (GRCm39) |
C829Y |
probably benign |
Het |
| Polr1a |
C |
T |
6: 71,918,496 (GRCm39) |
P685S |
probably damaging |
Het |
| Ppp4r3b |
A |
G |
11: 29,123,352 (GRCm39) |
D16G |
probably benign |
Het |
| Ppwd1 |
C |
T |
13: 104,353,714 (GRCm39) |
R348H |
probably damaging |
Het |
| Pxdc1 |
T |
C |
13: 34,823,046 (GRCm39) |
T98A |
probably benign |
Het |
| Rhbdl1 |
T |
C |
17: 26,055,167 (GRCm39) |
I68V |
probably benign |
Het |
| Ror2 |
A |
G |
13: 53,271,261 (GRCm39) |
C365R |
probably damaging |
Het |
| Samd4b |
A |
T |
7: 28,103,328 (GRCm39) |
H43Q |
probably damaging |
Het |
| Sbf2 |
A |
T |
7: 110,040,633 (GRCm39) |
V398D |
probably benign |
Het |
| Sbno2 |
T |
C |
10: 79,894,708 (GRCm39) |
I1012M |
probably damaging |
Het |
| Serpinb9h |
A |
T |
13: 33,581,841 (GRCm39) |
I133L |
probably damaging |
Het |
| Strn |
T |
C |
17: 78,984,801 (GRCm39) |
T281A |
probably benign |
Het |
| Tafa1 |
T |
C |
6: 96,092,737 (GRCm39) |
|
probably null |
Het |
| Tmem45a |
A |
G |
16: 56,646,100 (GRCm39) |
L40P |
probably damaging |
Het |
| Tnn |
G |
A |
1: 159,942,255 (GRCm39) |
P1081L |
probably damaging |
Het |
| Unc80 |
T |
C |
1: 66,716,544 (GRCm39) |
V2888A |
probably benign |
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 |
|
R2655:Syt4
|
UTSW |
18 |
31,576,597 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
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'- CTCTAGGTCAAGATGCAGGG -3'
(R):5'- GACCTCAGGTTAGTGGGAAAC -3'
Sequencing Primer
(F):5'- AGAGCGGCTTTACCCTTCAC -3'
(R):5'- GTGGGAAACATCACCATTACTCGTG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation