Incidental Mutation 'R1417:Syt11'
| ID |
159845 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Syt11
|
| Ensembl Gene |
ENSMUSG00000068923 |
| Gene Name |
synaptotagmin XI |
| Synonyms |
6530420C11Rik |
| MMRRC Submission |
039473-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.431)
|
| Stock # |
R1417 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
88652006-88682466 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 88669289 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 201
(I201N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103129
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090945]
[ENSMUST00000107505]
|
| AlphaFold |
Q9R0N3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000090945
AA Change: I201N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000088464
Gene: ENSMUSG00000068923
AA Change: I201N
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
72 |
83 |
N/A |
INTRINSIC |
|
C2
|
172 |
276 |
2.36e-17 |
SMART |
|
C2
|
306 |
422 |
1.37e-22 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107505
AA Change: I201N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103129
Gene: ENSMUSG00000068923
AA Change: I201N
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
72 |
83 |
N/A |
INTRINSIC |
|
C2
|
172 |
276 |
2.36e-17 |
SMART |
|
C2
|
306 |
422 |
1.37e-22 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000183267
AA Change: I134N
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.8%
- 20x: 87.8%
|
| 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 are known calcium sensors and mediate calcium-dependent regulation of membrane trafficking in synaptic transmission. The encoded protein is also a substrate for ubiquitin-E3-ligase parkin. The gene has previously been referred to as synaptotagmin XII but has been renamed synaptotagmin XI to be consistent with mouse and rat official nomenclature. [provided by RefSeq, Apr 2010]
PHENOTYPE: Homozygous mutation of this gene results in no obvious abnormal phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp13a5 |
A |
G |
16: 29,117,053 (GRCm39) |
V565A |
probably benign |
Het |
| Atp6v1b1 |
T |
C |
6: 83,730,862 (GRCm39) |
S196P |
probably damaging |
Het |
| Car9 |
G |
T |
4: 43,512,439 (GRCm39) |
|
probably null |
Het |
| Ces1a |
C |
T |
8: 93,749,044 (GRCm39) |
D456N |
probably benign |
Het |
| Clu |
T |
A |
14: 66,212,420 (GRCm39) |
Y124* |
probably null |
Het |
| Cnnm1 |
A |
G |
19: 43,458,162 (GRCm39) |
E658G |
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,846,573 (GRCm39) |
E2913G |
probably damaging |
Het |
| Edc4 |
G |
A |
8: 106,614,487 (GRCm39) |
|
probably null |
Het |
| Enox1 |
C |
T |
14: 77,723,445 (GRCm39) |
|
probably benign |
Het |
| G6pc2 |
T |
C |
2: 69,053,312 (GRCm39) |
V122A |
probably damaging |
Het |
| Galns |
T |
C |
8: 123,311,652 (GRCm39) |
S453G |
possibly damaging |
Het |
| Gm12185 |
A |
C |
11: 48,798,669 (GRCm39) |
V608G |
probably damaging |
Het |
| Hbq1a |
A |
G |
11: 32,250,722 (GRCm39) |
D135G |
probably benign |
Het |
| Hspg2 |
A |
G |
4: 137,244,947 (GRCm39) |
T891A |
probably benign |
Het |
| Ift172 |
T |
C |
5: 31,413,993 (GRCm39) |
Y1445C |
probably damaging |
Het |
| Ipo8 |
C |
T |
6: 148,719,550 (GRCm39) |
D132N |
probably benign |
Het |
| Klhl11 |
T |
C |
11: 100,363,115 (GRCm39) |
E147G |
probably benign |
Het |
| Kmt2d |
A |
T |
15: 98,764,311 (GRCm39) |
V41D |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 40,894,653 (GRCm39) |
I2306V |
probably benign |
Het |
| Lrp5 |
A |
G |
19: 3,636,425 (GRCm39) |
V1514A |
probably benign |
Het |
| Lrrtm2 |
A |
T |
18: 35,347,011 (GRCm39) |
I97N |
probably damaging |
Het |
| Mtmr3 |
C |
A |
11: 4,437,923 (GRCm39) |
V844L |
probably benign |
Het |
| Myh8 |
A |
G |
11: 67,197,011 (GRCm39) |
E1832G |
probably damaging |
Het |
| Or4n5 |
T |
A |
14: 50,133,020 (GRCm39) |
R80* |
probably null |
Het |
| Pcdhb16 |
A |
G |
18: 37,611,180 (GRCm39) |
T47A |
probably benign |
Het |
| Pfkp |
T |
C |
13: 6,655,755 (GRCm39) |
K293E |
probably benign |
Het |
| Phlpp2 |
G |
T |
8: 110,667,313 (GRCm39) |
E1281* |
probably null |
Het |
| Prss23 |
T |
A |
7: 89,159,392 (GRCm39) |
T226S |
probably damaging |
Het |
| Slc8a1 |
T |
G |
17: 81,715,709 (GRCm39) |
M775L |
probably damaging |
Het |
| Stx12 |
A |
G |
4: 132,587,853 (GRCm39) |
|
probably null |
Het |
| Ttc21a |
A |
G |
9: 119,783,327 (GRCm39) |
N543S |
probably damaging |
Het |
| Usf3 |
A |
G |
16: 44,037,812 (GRCm39) |
N764S |
probably benign |
Het |
| Xylb |
A |
G |
9: 119,193,606 (GRCm39) |
D100G |
probably benign |
Het |
| Zfp423 |
T |
C |
8: 88,500,284 (GRCm39) |
|
probably null |
Het |
| Zkscan16 |
T |
C |
4: 58,952,377 (GRCm39) |
V225A |
probably benign |
Het |
|
| Other mutations in Syt11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01402:Syt11
|
APN |
3 |
88,669,523 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01404:Syt11
|
APN |
3 |
88,669,523 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03031:Syt11
|
APN |
3 |
88,656,148 (GRCm39) |
start codon destroyed |
probably null |
0.06 |
|
R0041:Syt11
|
UTSW |
3 |
88,655,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0326:Syt11
|
UTSW |
3 |
88,669,855 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0569:Syt11
|
UTSW |
3 |
88,655,230 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0613:Syt11
|
UTSW |
3 |
88,669,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1209:Syt11
|
UTSW |
3 |
88,655,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1530:Syt11
|
UTSW |
3 |
88,669,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1544:Syt11
|
UTSW |
3 |
88,656,110 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1727:Syt11
|
UTSW |
3 |
88,669,259 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4952:Syt11
|
UTSW |
3 |
88,669,590 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5097:Syt11
|
UTSW |
3 |
88,655,231 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5162:Syt11
|
UTSW |
3 |
88,655,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6024:Syt11
|
UTSW |
3 |
88,669,416 (GRCm39) |
missense |
probably benign |
|
|
R6875:Syt11
|
UTSW |
3 |
88,669,462 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7013:Syt11
|
UTSW |
3 |
88,655,296 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7761:Syt11
|
UTSW |
3 |
88,669,778 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R8218:Syt11
|
UTSW |
3 |
88,669,427 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8833:Syt11
|
UTSW |
3 |
88,655,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8898:Syt11
|
UTSW |
3 |
88,669,335 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8933:Syt11
|
UTSW |
3 |
88,655,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8937:Syt11
|
UTSW |
3 |
88,655,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9127:Syt11
|
UTSW |
3 |
88,669,643 (GRCm39) |
missense |
probably benign |
|
|
R9605:Syt11
|
UTSW |
3 |
88,669,325 (GRCm39) |
missense |
probably benign |
0.08 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAGAATCGATCAAAGCTGAGCACC -3'
(R):5'- AATAAACGCGGAGTCTGGCCTG -3'
Sequencing Primer
(F):5'- GCTGAGCACCAGGAAATGC -3'
(R):5'- GCATCTTGTATGGACCAGTTAC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation