Incidental Mutation 'R3730:Syt4'
| ID |
270952 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Syt4
|
| Ensembl Gene |
ENSMUSG00000024261 |
| Gene Name |
synaptotagmin IV |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3730 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
31570861-31580459 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 31577189 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 55
(H55R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025110
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025110]
|
| AlphaFold |
P40749 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025110
AA Change: H55R
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000025110
Gene: ENSMUSG00000024261
AA Change: H55R
| 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
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 90.5%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
A |
G |
1: 11,615,450 (GRCm39) |
N141S |
probably damaging |
Het |
| Acbd6 |
T |
A |
1: 155,434,471 (GRCm39) |
S30T |
probably benign |
Het |
| Acot12 |
T |
A |
13: 91,908,145 (GRCm39) |
F109Y |
possibly damaging |
Het |
| Adamts19 |
G |
A |
18: 59,033,982 (GRCm39) |
R319Q |
probably damaging |
Het |
| Akap1 |
T |
C |
11: 88,736,008 (GRCm39) |
E218G |
possibly damaging |
Het |
| Atg4b |
T |
A |
1: 93,695,997 (GRCm39) |
D45E |
probably damaging |
Het |
| Atoh1 |
A |
G |
6: 64,706,557 (GRCm39) |
E84G |
probably benign |
Het |
| Cemip2 |
A |
G |
19: 21,803,481 (GRCm39) |
Y838C |
probably damaging |
Het |
| Cfap251 |
A |
T |
5: 123,464,631 (GRCm39) |
I1280L |
possibly damaging |
Het |
| Cfap54 |
A |
T |
10: 92,847,335 (GRCm39) |
Y951* |
probably null |
Het |
| Col4a4 |
T |
A |
1: 82,433,472 (GRCm39) |
|
probably null |
Het |
| Crlf1 |
A |
G |
8: 70,952,092 (GRCm39) |
T95A |
probably benign |
Het |
| Cyp3a25 |
G |
A |
5: 145,939,891 (GRCm39) |
P39S |
probably damaging |
Het |
| Dhx9 |
C |
A |
1: 153,353,866 (GRCm39) |
A186S |
probably benign |
Het |
| Dusp16 |
A |
G |
6: 134,695,824 (GRCm39) |
S336P |
probably benign |
Het |
| Fcgbp |
T |
C |
7: 27,784,882 (GRCm39) |
V314A |
possibly damaging |
Het |
| Focad |
T |
C |
4: 88,327,162 (GRCm39) |
I157T |
possibly damaging |
Het |
| Frem3 |
A |
T |
8: 81,342,545 (GRCm39) |
T1613S |
probably damaging |
Het |
| Fshr |
C |
T |
17: 89,309,143 (GRCm39) |
V222I |
probably benign |
Het |
| Galnt13 |
A |
G |
2: 54,823,519 (GRCm39) |
N365S |
possibly damaging |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Ice1 |
A |
T |
13: 70,751,359 (GRCm39) |
S1576T |
probably damaging |
Het |
| Ighv1-19 |
C |
A |
12: 114,672,497 (GRCm39) |
C40F |
probably damaging |
Het |
| Itga8 |
T |
C |
2: 12,198,321 (GRCm39) |
T555A |
possibly damaging |
Het |
| Kctd5 |
T |
C |
17: 24,278,212 (GRCm39) |
D146G |
probably benign |
Het |
| Ktn1 |
A |
G |
14: 47,938,606 (GRCm39) |
E766G |
probably damaging |
Het |
| Ldlr |
C |
G |
9: 21,643,097 (GRCm39) |
A41G |
probably benign |
Het |
| Lrp2 |
G |
A |
2: 69,294,923 (GRCm39) |
P3465L |
probably damaging |
Het |
| Lrp2 |
A |
T |
2: 69,365,251 (GRCm39) |
|
probably null |
Het |
| Mapk11 |
G |
A |
15: 89,029,318 (GRCm39) |
A248V |
probably benign |
Het |
| Mroh2a |
GCCC |
GC |
1: 88,159,979 (GRCm39) |
|
probably null |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Npr2 |
T |
C |
4: 43,640,999 (GRCm39) |
S402P |
possibly damaging |
Het |
| Olfm2 |
T |
C |
9: 20,584,063 (GRCm39) |
N76D |
probably damaging |
Het |
| Or7g33 |
T |
A |
9: 19,448,447 (GRCm39) |
I260F |
probably benign |
Het |
| Or8k3 |
A |
G |
2: 86,059,195 (GRCm39) |
I40T |
probably benign |
Het |
| Pias4 |
A |
T |
10: 80,999,888 (GRCm39) |
F55Y |
probably damaging |
Het |
| Rgs12 |
G |
A |
5: 35,189,595 (GRCm39) |
E658K |
probably damaging |
Het |
| Ripor3 |
C |
G |
2: 167,834,739 (GRCm39) |
E251Q |
probably damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Slc16a10 |
G |
C |
10: 39,932,620 (GRCm39) |
H314D |
possibly damaging |
Het |
| Slc35e4 |
A |
G |
11: 3,862,577 (GRCm39) |
V204A |
possibly damaging |
Het |
| Trim46 |
T |
A |
3: 89,142,256 (GRCm39) |
T721S |
probably benign |
Het |
| Usf3 |
G |
T |
16: 44,038,938 (GRCm39) |
L1139F |
probably benign |
Het |
| Xrn2 |
A |
T |
2: 146,866,729 (GRCm39) |
M100L |
probably benign |
Het |
| Zbtb33 |
C |
A |
X: 37,281,822 (GRCm39) |
N243K |
probably benign |
Het |
| Zfp960 |
T |
A |
17: 17,308,633 (GRCm39) |
L449H |
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 |
|
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 |
|
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'- AGATCAGAAGAGCTGCCAGC -3'
(R):5'- TTACTCGTGCCAGGAACTCTG -3'
Sequencing Primer
(F):5'- CCAGCTTTGGGGTTGGC -3'
(R):5'- CTCTGGGGGAGTAAGTCAATCCTC -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation