Incidental Mutation 'R1308:Syt12'
| ID |
157867 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Syt12
|
| Ensembl Gene |
ENSMUSG00000049303 |
| Gene Name |
synaptotagmin XII |
| Synonyms |
|
| MMRRC Submission |
039374-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1308 (G1)
|
| Quality Score |
103 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
4495936-4527171 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 4510763 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 37
(V37E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055237
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059295]
[ENSMUST00000166191]
|
| AlphaFold |
Q920N7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000059295
AA Change: V37E
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000055237
Gene: ENSMUSG00000049303
AA Change: V37E
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
|
low complexity region
|
45 |
55 |
N/A |
INTRINSIC |
|
C2
|
168 |
272 |
1.8e-6 |
SMART |
|
C2
|
299 |
405 |
4.9e-20 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000166191
AA Change: V37E
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000130418
Gene: ENSMUSG00000049303
AA Change: V37E
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
|
low complexity region
|
45 |
55 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 89.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the synaptotagmin gene family and encodes a protein similar to other family members that mediate calcium-dependent regulation of membrane trafficking in synaptic transmission. Studies of the orthologous gene in rat have shown that the encoded protein selectively modulates spontaneous synaptic-vesicle exocytosis and may also be involved in regulating calcium independent secretion in nonneuronal cells. Alternative splicing results in multiple transcript variants. The gene has previously been referred to as synaptotagmin XI but has been renamed synaptotagmin XII to be standard with mouse and rat official nomenclature.[provided by RefSeq, Apr 2010]
PHENOTYPE: Mice homozygous for a knock-in allele are viable. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Angpt2 |
C |
T |
8: 18,742,134 (GRCm39) |
W474* |
probably null |
Het |
| Cln6 |
A |
G |
9: 62,758,143 (GRCm39) |
T301A |
probably damaging |
Het |
| G6pc2 |
A |
T |
2: 69,050,570 (GRCm39) |
D65V |
probably damaging |
Het |
| Havcr1 |
C |
T |
11: 46,647,097 (GRCm39) |
T177I |
probably damaging |
Het |
| Jph1 |
A |
G |
1: 17,161,918 (GRCm39) |
I248T |
probably damaging |
Het |
| Lamc2 |
A |
G |
1: 153,026,564 (GRCm39) |
L230P |
probably damaging |
Het |
| Lmnb1 |
A |
G |
18: 56,861,547 (GRCm39) |
K146R |
probably benign |
Het |
| Map3k6 |
T |
C |
4: 132,973,126 (GRCm39) |
S395P |
probably damaging |
Het |
| Myo6 |
G |
A |
9: 80,152,996 (GRCm39) |
V210I |
probably damaging |
Het |
| Ntn4 |
C |
T |
10: 93,543,215 (GRCm39) |
R314W |
probably damaging |
Het |
| Otoa |
C |
A |
7: 120,724,666 (GRCm39) |
C448* |
probably null |
Het |
| Pate6 |
T |
C |
9: 35,700,385 (GRCm39) |
T67A |
probably benign |
Het |
| Prkcg |
G |
C |
7: 3,377,622 (GRCm39) |
K525N |
probably damaging |
Het |
| Pros1 |
G |
A |
16: 62,734,228 (GRCm39) |
D345N |
probably damaging |
Het |
| Prss47 |
T |
C |
13: 65,199,630 (GRCm39) |
H83R |
probably benign |
Het |
| R3hdml |
G |
T |
2: 163,344,319 (GRCm39) |
C236F |
probably damaging |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Tekt2 |
A |
T |
4: 126,218,711 (GRCm39) |
L14H |
probably damaging |
Het |
| Tnpo2 |
T |
C |
8: 85,781,982 (GRCm39) |
F857S |
probably damaging |
Het |
| Wdr27 |
T |
C |
17: 15,148,646 (GRCm39) |
T116A |
probably damaging |
Het |
|
| Other mutations in Syt12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00584:Syt12
|
APN |
19 |
4,497,873 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02045:Syt12
|
APN |
19 |
4,497,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02942:Syt12
|
APN |
19 |
4,497,858 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL03131:Syt12
|
APN |
19 |
4,506,882 (GRCm39) |
missense |
probably benign |
|
|
R1830:Syt12
|
UTSW |
19 |
4,506,911 (GRCm39) |
missense |
probably benign |
|
|
R1858:Syt12
|
UTSW |
19 |
4,497,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4192:Syt12
|
UTSW |
19 |
4,497,709 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5646:Syt12
|
UTSW |
19 |
4,506,569 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R5769:Syt12
|
UTSW |
19 |
4,501,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5785:Syt12
|
UTSW |
19 |
4,501,022 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6079:Syt12
|
UTSW |
19 |
4,506,896 (GRCm39) |
missense |
probably benign |
|
|
R7017:Syt12
|
UTSW |
19 |
4,510,895 (GRCm39) |
splice site |
probably null |
|
|
R7043:Syt12
|
UTSW |
19 |
4,501,049 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7137:Syt12
|
UTSW |
19 |
4,503,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7935:Syt12
|
UTSW |
19 |
4,497,830 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8042:Syt12
|
UTSW |
19 |
4,503,852 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9468:Syt12
|
UTSW |
19 |
4,497,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
U15987:Syt12
|
UTSW |
19 |
4,506,896 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Syt12
|
UTSW |
19 |
4,503,956 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTTACTCAAGAAGCACAGGGCGA -3'
(R):5'- GCCAAGCACACAGGACACGTAAATAT -3'
Sequencing Primer
(F):5'- CCATTCACAGGGCGATATTAATC -3'
(R):5'- GCACACAGGACACGTAAATATATAAG -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation