Incidental Mutation 'R8199:Syt4'
| ID |
635611 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Syt4
|
| Ensembl Gene |
ENSMUSG00000024261 |
| Gene Name |
synaptotagmin IV |
| Synonyms |
|
| MMRRC Submission |
067622-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8199 (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 C
at 31577268 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 29
(T29A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025110
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025110]
|
| AlphaFold |
P40749 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025110
AA Change: T29A
PolyPhen 2
Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000025110
Gene: ENSMUSG00000024261
AA Change: T29A
| 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: 99.9%
- 10x: 99.5%
- 20x: 98.6%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
T |
C |
7: 41,275,304 (GRCm39) |
Y336H |
probably damaging |
Het |
| 4930563I02Rik |
A |
G |
14: 60,333,388 (GRCm39) |
I42M |
noncoding transcript |
Het |
| Acad9 |
T |
C |
3: 36,139,572 (GRCm39) |
S391P |
probably damaging |
Het |
| Aven |
C |
T |
2: 112,390,120 (GRCm39) |
R8W |
probably benign |
Het |
| Cacna1c |
T |
C |
6: 118,651,545 (GRCm39) |
T972A |
probably benign |
Het |
| Col25a1 |
G |
A |
3: 130,345,628 (GRCm39) |
G406E |
probably damaging |
Het |
| Coro2b |
T |
G |
9: 62,336,302 (GRCm39) |
I267L |
probably benign |
Het |
| Cst12 |
A |
G |
2: 148,631,459 (GRCm39) |
N60S |
probably benign |
Het |
| Dnah8 |
A |
T |
17: 31,090,393 (GRCm39) |
I4632F |
probably benign |
Het |
| Eif3d |
C |
T |
15: 77,844,292 (GRCm39) |
C404Y |
possibly damaging |
Het |
| Elapor2 |
C |
T |
5: 9,470,657 (GRCm39) |
T260M |
probably damaging |
Het |
| Fam43a |
A |
T |
16: 30,419,586 (GRCm39) |
K57* |
probably null |
Het |
| Fbrs |
T |
C |
7: 127,086,956 (GRCm39) |
|
probably null |
Het |
| Fcnb |
C |
T |
2: 27,968,330 (GRCm39) |
S209N |
possibly damaging |
Het |
| Fggy |
G |
A |
4: 95,700,381 (GRCm39) |
E351K |
probably benign |
Het |
| Gabra6 |
G |
A |
11: 42,207,280 (GRCm39) |
S268L |
probably damaging |
Het |
| Gatm |
A |
G |
2: 122,432,994 (GRCm39) |
Y223H |
probably damaging |
Het |
| Gli3 |
T |
A |
13: 15,900,576 (GRCm39) |
M1321K |
probably benign |
Het |
| Hira |
G |
A |
16: 18,766,194 (GRCm39) |
A669T |
probably benign |
Het |
| Hoxa5 |
T |
C |
6: 52,181,240 (GRCm39) |
S31G |
probably benign |
Het |
| Kdm2a |
T |
A |
19: 4,439,054 (GRCm39) |
Q25L |
unknown |
Het |
| Loxhd1 |
C |
A |
18: 77,469,334 (GRCm39) |
N1000K |
possibly damaging |
Het |
| Mpdu1 |
C |
T |
11: 69,548,069 (GRCm39) |
W235* |
probably null |
Het |
| Msantd2 |
G |
C |
9: 37,400,789 (GRCm39) |
G57A |
probably benign |
Het |
| Nat1 |
A |
G |
8: 67,943,650 (GRCm39) |
R9G |
probably damaging |
Het |
| Nbl1 |
G |
A |
4: 138,810,880 (GRCm39) |
P105S |
probably damaging |
Het |
| Or2j3 |
T |
C |
17: 38,615,444 (GRCm39) |
R303G |
probably benign |
Het |
| Or52e4 |
A |
C |
7: 104,705,852 (GRCm39) |
Q133P |
probably damaging |
Het |
| Or8b54 |
G |
A |
9: 38,686,577 (GRCm39) |
V9M |
noncoding transcript |
Het |
| Pdzrn3 |
T |
C |
6: 101,128,918 (GRCm39) |
S583G |
probably damaging |
Het |
| Prpf4 |
A |
G |
4: 62,340,866 (GRCm39) |
D427G |
probably damaging |
Het |
| Ptpn21 |
T |
A |
12: 98,644,841 (GRCm39) |
I1167F |
possibly damaging |
Het |
| Rasgrp1 |
T |
A |
2: 117,124,293 (GRCm39) |
H303L |
probably damaging |
Het |
| Ros1 |
T |
A |
10: 51,977,813 (GRCm39) |
K1499* |
probably null |
Het |
| Skida1 |
C |
A |
2: 18,052,959 (GRCm39) |
L64F |
probably damaging |
Het |
| St3gal5 |
T |
C |
6: 72,119,175 (GRCm39) |
Y123H |
probably benign |
Het |
| Syk |
T |
C |
13: 52,778,768 (GRCm39) |
S285P |
probably benign |
Het |
| Trav7-3 |
A |
G |
14: 53,681,099 (GRCm39) |
D47G |
possibly damaging |
Het |
| Trpm7 |
A |
G |
2: 126,691,918 (GRCm39) |
F146L |
probably damaging |
Het |
| Utp20 |
A |
T |
10: 88,634,337 (GRCm39) |
D786E |
probably benign |
Het |
| Uts2 |
G |
A |
4: 151,086,115 (GRCm39) |
C117Y |
possibly damaging |
Het |
| Zfp553 |
T |
C |
7: 126,835,468 (GRCm39) |
L341P |
probably damaging |
Het |
| Zfp994 |
T |
A |
17: 22,419,204 (GRCm39) |
K582* |
probably null |
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 |
|
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 |
|
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'- TCGCTTCTCTAGGTCAAGATGC -3'
(R):5'- TTACTCGTGCCAGGAACTCTG -3'
Sequencing Primer
(F):5'- TTCTCTAGGTCAAGATGCAGGGAAAG -3'
(R):5'- CTCTGGGGGAGTAAGTCAATCCTC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation