Incidental Mutation 'R5097:Syt11'
ID |
388066 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Syt11
|
Ensembl Gene |
ENSMUSG00000068923 |
Gene Name |
synaptotagmin XI |
Synonyms |
6530420C11Rik |
MMRRC Submission |
042686-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.431)
|
Stock # |
R5097 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
88652006-88682466 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 88655231 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 51
(V51I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103127
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090945]
[ENSMUST00000107503]
[ENSMUST00000107505]
|
AlphaFold |
Q9R0N3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000090945
AA Change: V357I
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000088464 Gene: ENSMUSG00000068923 AA Change: V357I
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 benign
Transcript: ENSMUST00000107503
AA Change: V51I
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000103127 Gene: ENSMUSG00000068923 AA Change: V51I
Domain | Start | End | E-Value | Type |
C2
|
1 |
116 |
1.06e-19 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107505
AA Change: V357I
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000103129 Gene: ENSMUSG00000068923 AA Change: V357I
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: V289I
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts3 |
C |
A |
5: 89,840,909 (GRCm39) |
V805F |
probably damaging |
Het |
Adgrb3 |
G |
A |
1: 25,865,165 (GRCm39) |
T226M |
probably damaging |
Het |
Ak5 |
A |
G |
3: 152,187,270 (GRCm39) |
S406P |
probably damaging |
Het |
Akt3 |
C |
G |
1: 177,076,254 (GRCm39) |
V12L |
probably benign |
Het |
Arhgef40 |
A |
C |
14: 52,227,146 (GRCm39) |
S397R |
probably damaging |
Het |
Atp5f1c |
A |
G |
2: 10,068,323 (GRCm39) |
V144A |
probably benign |
Het |
Ccser1 |
A |
G |
6: 61,289,144 (GRCm39) |
S436G |
probably benign |
Het |
Clgn |
G |
T |
8: 84,137,152 (GRCm39) |
V290F |
possibly damaging |
Het |
Dis3l |
T |
A |
9: 64,226,498 (GRCm39) |
D261V |
probably damaging |
Het |
Dnah11 |
T |
A |
12: 117,981,435 (GRCm39) |
Y2577F |
probably damaging |
Het |
Evi5l |
A |
G |
8: 4,243,317 (GRCm39) |
E371G |
probably damaging |
Het |
Fat2 |
A |
G |
11: 55,201,530 (GRCm39) |
S515P |
probably damaging |
Het |
Fsip2 |
A |
G |
2: 82,822,329 (GRCm39) |
I6021V |
probably benign |
Het |
Ftdc1 |
A |
C |
16: 58,434,227 (GRCm39) |
N163K |
probably benign |
Het |
Gstm5 |
A |
T |
3: 107,803,258 (GRCm39) |
|
probably benign |
Het |
H2-Oa |
G |
A |
17: 34,312,809 (GRCm39) |
D29N |
probably damaging |
Het |
Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
Ireb2 |
A |
G |
9: 54,802,668 (GRCm39) |
I434M |
probably benign |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Micall1 |
A |
G |
15: 79,014,078 (GRCm39) |
T658A |
probably benign |
Het |
Mitf |
C |
T |
6: 97,973,423 (GRCm39) |
A252V |
possibly damaging |
Het |
Mpzl1 |
A |
G |
1: 165,433,285 (GRCm39) |
I122T |
probably damaging |
Het |
Mtus2 |
G |
A |
5: 148,232,392 (GRCm39) |
V146I |
probably damaging |
Het |
Myh11 |
C |
T |
16: 14,023,770 (GRCm39) |
|
probably null |
Het |
Myrfl |
A |
G |
10: 116,653,609 (GRCm39) |
I486T |
probably damaging |
Het |
N4bp2 |
T |
C |
5: 65,974,561 (GRCm39) |
V1477A |
probably damaging |
Het |
Ndc1 |
T |
A |
4: 107,231,358 (GRCm39) |
S100T |
probably benign |
Het |
Nek10 |
T |
A |
14: 14,857,851 (GRCm38) |
N433K |
probably benign |
Het |
Noc4l |
C |
T |
5: 110,799,212 (GRCm39) |
S190N |
probably benign |
Het |
Nprl2 |
A |
G |
9: 107,420,731 (GRCm39) |
E122G |
probably damaging |
Het |
Or13a19 |
A |
G |
7: 139,903,008 (GRCm39) |
Y132C |
probably damaging |
Het |
Or1e16 |
G |
C |
11: 73,286,119 (GRCm39) |
S243C |
probably damaging |
Het |
Or6n2 |
C |
T |
1: 173,897,095 (GRCm39) |
T77I |
probably benign |
Het |
Osbpl1a |
T |
C |
18: 12,896,594 (GRCm39) |
I324V |
probably damaging |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Peg3 |
C |
T |
7: 6,713,026 (GRCm39) |
R732H |
probably damaging |
Het |
Rfc4 |
A |
G |
16: 22,933,046 (GRCm39) |
I297T |
possibly damaging |
Het |
Rpl3l |
T |
A |
17: 24,952,435 (GRCm39) |
D218E |
probably damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Sesn2 |
C |
T |
4: 132,224,209 (GRCm39) |
V400I |
probably benign |
Het |
Tas2r115 |
A |
C |
6: 132,714,216 (GRCm39) |
L245R |
probably damaging |
Het |
Tmem115 |
G |
A |
9: 107,412,059 (GRCm39) |
V128I |
probably benign |
Het |
Trim47 |
A |
G |
11: 115,997,260 (GRCm39) |
V499A |
probably benign |
Het |
Trpm7 |
A |
T |
2: 126,638,256 (GRCm39) |
|
probably null |
Het |
Zfp143 |
A |
G |
7: 109,687,998 (GRCm39) |
D479G |
probably damaging |
Het |
Zfp292 |
T |
C |
4: 34,839,878 (GRCm39) |
T91A |
possibly damaging |
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 |
R1417:Syt11
|
UTSW |
3 |
88,669,289 (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 |
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'- AGTACTCGCTCAGACTGTGC -3'
(R):5'- GAAAACAGTGTCTCTTCCATCTAAACC -3'
Sequencing Primer
(F):5'- GCTCAGACTGTGCCACTTG -3'
(R):5'- ATGACCCCTGTGAAATGGTC -3'
|
Posted On |
2016-06-06 |