Incidental Mutation 'R0580:Syt10'
ID |
56406 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Syt10
|
Ensembl Gene |
ENSMUSG00000063260 |
Gene Name |
synaptotagmin X |
Synonyms |
|
MMRRC Submission |
038770-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.084)
|
Stock # |
R0580 (G1)
|
Quality Score |
146 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
89666596-89726063 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 89711379 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 51
(D51E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029441
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029441]
|
AlphaFold |
Q9R0N4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029441
AA Change: D51E
PolyPhen 2
Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000029441 Gene: ENSMUSG00000063260 AA Change: D51E
Domain | Start | End | E-Value | Type |
transmembrane domain
|
55 |
77 |
N/A |
INTRINSIC |
low complexity region
|
105 |
126 |
N/A |
INTRINSIC |
C2
|
247 |
350 |
1.22e-19 |
SMART |
C2
|
379 |
493 |
7.73e-22 |
SMART |
|
Meta Mutation Damage Score |
0.0664 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.2%
- 20x: 93.7%
|
Validation Efficiency |
95% (40/42) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-in allele exhibit minor circadian rhythm impairments. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2fm3 |
T |
A |
3: 59,784,470 (GRCm39) |
D314E |
probably damaging |
Het |
Abcc10 |
C |
T |
17: 46,616,882 (GRCm39) |
|
probably null |
Het |
Adgrg5 |
T |
C |
8: 95,663,972 (GRCm39) |
|
probably null |
Het |
Akap12 |
A |
T |
10: 4,304,741 (GRCm39) |
D517V |
possibly damaging |
Het |
Arhgap23 |
AGAGGAGGAGGAGGAGG |
AGAGGAGGAGGAGG |
11: 97,337,362 (GRCm39) |
|
probably null |
Het |
Bpi |
A |
T |
2: 158,100,215 (GRCm39) |
M1L |
probably damaging |
Het |
Carm1 |
C |
T |
9: 21,494,880 (GRCm39) |
P339S |
probably damaging |
Het |
Chchd3 |
A |
C |
6: 32,870,325 (GRCm39) |
|
probably null |
Het |
Chd9 |
T |
C |
8: 91,721,191 (GRCm39) |
V520A |
possibly damaging |
Het |
Chmp7 |
C |
T |
14: 69,956,899 (GRCm39) |
M336I |
probably benign |
Het |
Col10a1 |
A |
G |
10: 34,270,948 (GRCm39) |
R307G |
probably benign |
Het |
Cpeb3 |
T |
C |
19: 37,151,435 (GRCm39) |
T314A |
probably benign |
Het |
Csmd1 |
A |
T |
8: 15,960,528 (GRCm39) |
Y3296N |
probably damaging |
Het |
Dtx2 |
A |
T |
5: 136,061,180 (GRCm39) |
T521S |
probably damaging |
Het |
Ext2 |
A |
T |
2: 93,626,070 (GRCm39) |
V330E |
probably benign |
Het |
Extl3 |
A |
G |
14: 65,313,178 (GRCm39) |
L668P |
probably damaging |
Het |
Gm6605 |
C |
A |
7: 38,147,699 (GRCm39) |
|
noncoding transcript |
Het |
Grm8 |
A |
G |
6: 27,761,370 (GRCm39) |
|
probably benign |
Het |
Herc2 |
T |
A |
7: 55,788,539 (GRCm39) |
V1763D |
probably damaging |
Het |
Ino80 |
G |
A |
2: 119,213,962 (GRCm39) |
P1203S |
probably damaging |
Het |
Iqce |
A |
G |
5: 140,651,156 (GRCm39) |
F768L |
possibly damaging |
Het |
Kntc1 |
G |
A |
5: 123,941,732 (GRCm39) |
V1809I |
probably benign |
Het |
Lyzl1 |
A |
C |
18: 4,181,134 (GRCm39) |
T58P |
probably damaging |
Het |
Mlxipl |
A |
G |
5: 135,152,829 (GRCm39) |
T287A |
probably benign |
Het |
Mroh2a |
G |
A |
1: 88,171,672 (GRCm39) |
R770Q |
probably damaging |
Het |
Net1 |
A |
G |
13: 3,936,612 (GRCm39) |
Y264H |
probably damaging |
Het |
Nnmt |
T |
C |
9: 48,503,600 (GRCm39) |
D142G |
probably damaging |
Het |
Nod2 |
T |
A |
8: 89,391,034 (GRCm39) |
I432N |
probably damaging |
Het |
Or2h2c |
G |
C |
17: 37,422,347 (GRCm39) |
L176V |
probably benign |
Het |
Or2y1g |
T |
A |
11: 49,171,449 (GRCm39) |
I158N |
probably damaging |
Het |
Or6b6 |
A |
G |
7: 106,571,447 (GRCm39) |
Y35H |
probably damaging |
Het |
Pign |
A |
C |
1: 105,519,419 (GRCm39) |
I501S |
probably benign |
Het |
Scgb2b19 |
A |
T |
7: 32,977,995 (GRCm39) |
S101T |
probably benign |
Het |
Slc7a5 |
A |
T |
8: 122,611,855 (GRCm39) |
M391K |
probably benign |
Het |
Sptan1 |
A |
G |
2: 29,897,587 (GRCm39) |
R1217G |
probably damaging |
Het |
Srgap2 |
A |
G |
1: 131,277,239 (GRCm39) |
V336A |
possibly damaging |
Het |
Srsf11 |
C |
T |
3: 157,717,704 (GRCm39) |
|
probably benign |
Het |
Vmn2r96 |
T |
C |
17: 18,802,900 (GRCm39) |
V270A |
probably damaging |
Het |
|
Other mutations in Syt10 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02718:Syt10
|
APN |
15 |
89,698,282 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02976:Syt10
|
APN |
15 |
89,698,682 (GRCm39) |
missense |
probably benign |
0.26 |
R0200:Syt10
|
UTSW |
15 |
89,711,144 (GRCm39) |
missense |
probably benign |
0.01 |
R0306:Syt10
|
UTSW |
15 |
89,711,191 (GRCm39) |
missense |
probably benign |
0.02 |
R0608:Syt10
|
UTSW |
15 |
89,711,144 (GRCm39) |
missense |
probably benign |
0.01 |
R1705:Syt10
|
UTSW |
15 |
89,674,979 (GRCm39) |
missense |
probably damaging |
1.00 |
R1706:Syt10
|
UTSW |
15 |
89,674,979 (GRCm39) |
missense |
probably damaging |
1.00 |
R1921:Syt10
|
UTSW |
15 |
89,674,979 (GRCm39) |
missense |
probably damaging |
1.00 |
R1922:Syt10
|
UTSW |
15 |
89,674,979 (GRCm39) |
missense |
probably damaging |
1.00 |
R2072:Syt10
|
UTSW |
15 |
89,674,979 (GRCm39) |
missense |
probably damaging |
1.00 |
R2074:Syt10
|
UTSW |
15 |
89,674,979 (GRCm39) |
missense |
probably damaging |
1.00 |
R2119:Syt10
|
UTSW |
15 |
89,674,979 (GRCm39) |
missense |
probably damaging |
1.00 |
R2120:Syt10
|
UTSW |
15 |
89,674,979 (GRCm39) |
missense |
probably damaging |
1.00 |
R2121:Syt10
|
UTSW |
15 |
89,674,979 (GRCm39) |
missense |
probably damaging |
1.00 |
R3812:Syt10
|
UTSW |
15 |
89,675,000 (GRCm39) |
missense |
probably benign |
|
R4029:Syt10
|
UTSW |
15 |
89,698,741 (GRCm39) |
missense |
probably benign |
|
R4270:Syt10
|
UTSW |
15 |
89,675,095 (GRCm39) |
missense |
probably benign |
0.39 |
R4536:Syt10
|
UTSW |
15 |
89,666,825 (GRCm39) |
missense |
probably damaging |
0.99 |
R5333:Syt10
|
UTSW |
15 |
89,725,932 (GRCm39) |
missense |
probably benign |
0.00 |
R6042:Syt10
|
UTSW |
15 |
89,725,824 (GRCm39) |
missense |
probably benign |
0.13 |
R6104:Syt10
|
UTSW |
15 |
89,711,067 (GRCm39) |
missense |
probably benign |
0.02 |
R6445:Syt10
|
UTSW |
15 |
89,698,471 (GRCm39) |
missense |
probably damaging |
1.00 |
R6470:Syt10
|
UTSW |
15 |
89,676,804 (GRCm39) |
missense |
probably damaging |
1.00 |
R6472:Syt10
|
UTSW |
15 |
89,698,761 (GRCm39) |
missense |
probably benign |
|
R6679:Syt10
|
UTSW |
15 |
89,698,574 (GRCm39) |
missense |
probably damaging |
1.00 |
R7048:Syt10
|
UTSW |
15 |
89,675,008 (GRCm39) |
missense |
probably damaging |
1.00 |
R7128:Syt10
|
UTSW |
15 |
89,698,314 (GRCm39) |
missense |
probably damaging |
1.00 |
R7315:Syt10
|
UTSW |
15 |
89,698,541 (GRCm39) |
missense |
probably damaging |
0.99 |
R7352:Syt10
|
UTSW |
15 |
89,698,659 (GRCm39) |
missense |
probably benign |
0.42 |
R7686:Syt10
|
UTSW |
15 |
89,698,360 (GRCm39) |
missense |
probably damaging |
1.00 |
R7789:Syt10
|
UTSW |
15 |
89,711,101 (GRCm39) |
missense |
probably damaging |
1.00 |
R7937:Syt10
|
UTSW |
15 |
89,666,820 (GRCm39) |
missense |
probably damaging |
1.00 |
R8532:Syt10
|
UTSW |
15 |
89,676,889 (GRCm39) |
missense |
probably damaging |
1.00 |
R9578:Syt10
|
UTSW |
15 |
89,675,122 (GRCm39) |
missense |
possibly damaging |
0.80 |
R9668:Syt10
|
UTSW |
15 |
89,711,135 (GRCm39) |
missense |
probably damaging |
1.00 |
X0057:Syt10
|
UTSW |
15 |
89,711,131 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Syt10
|
UTSW |
15 |
89,725,842 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- TCCTTCCTTACCGGGATGAAGACG -3'
(R):5'- CCCTTGTGGTCTGCTTGGATATGAC -3'
Sequencing Primer
(F):5'- AAAGCTGTCTGCACTTCTGC -3'
(R):5'- GGATAAAACTTTCCAAGCGACCTC -3'
|
Posted On |
2013-07-11 |