Incidental Mutation 'R6679:Syt10'
ID |
527404 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Syt10
|
Ensembl Gene |
ENSMUSG00000063260 |
Gene Name |
synaptotagmin X |
Synonyms |
|
MMRRC Submission |
044798-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.081)
|
Stock # |
R6679 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
89666596-89726063 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 89698574 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Tyrosine
at position 257
(D257Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029441
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029441]
|
AlphaFold |
Q9R0N4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000029441
AA Change: D257Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000029441 Gene: ENSMUSG00000063260 AA Change: D257Y
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 |
0.3464 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
Validation Efficiency |
91% (40/44) |
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930449I24Rik |
T |
A |
5: 146,441,750 (GRCm39) |
V299E |
probably damaging |
Het |
Adgrb3 |
T |
C |
1: 25,170,377 (GRCm39) |
I767V |
probably benign |
Het |
Ahnak2 |
G |
A |
12: 112,739,410 (GRCm39) |
T748I |
probably damaging |
Het |
Aoc3 |
T |
A |
11: 101,222,279 (GRCm39) |
L129M |
probably damaging |
Het |
Arhgef7 |
T |
A |
8: 11,874,667 (GRCm39) |
M540K |
possibly damaging |
Het |
Bod1l |
T |
A |
5: 41,974,009 (GRCm39) |
K2435M |
probably damaging |
Het |
Col11a1 |
A |
G |
3: 113,946,368 (GRCm39) |
|
probably null |
Het |
Col5a3 |
C |
T |
9: 20,690,329 (GRCm39) |
G1162R |
probably damaging |
Het |
Creb5 |
G |
T |
6: 53,662,454 (GRCm39) |
M250I |
possibly damaging |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
Dock10 |
A |
G |
1: 80,544,514 (GRCm39) |
I557T |
probably benign |
Het |
Efcab2 |
G |
A |
1: 178,264,969 (GRCm39) |
A12T |
probably benign |
Het |
Ehd1 |
A |
G |
19: 6,344,474 (GRCm39) |
N245D |
probably benign |
Het |
Erich3 |
T |
A |
3: 154,468,066 (GRCm39) |
D839E |
possibly damaging |
Het |
Fam13b |
T |
C |
18: 34,620,075 (GRCm39) |
T270A |
possibly damaging |
Het |
Fat2 |
A |
T |
11: 55,200,131 (GRCm39) |
L981Q |
probably damaging |
Het |
Fgfrl1 |
G |
A |
5: 108,852,838 (GRCm39) |
W89* |
probably null |
Het |
Fgfrl1 |
G |
T |
5: 108,852,839 (GRCm39) |
W89C |
probably damaging |
Het |
Gm10770 |
G |
A |
2: 150,021,569 (GRCm39) |
P11S |
probably damaging |
Het |
Gm10801 |
TC |
TCGGC |
2: 98,494,151 (GRCm39) |
|
probably benign |
Het |
Hdac3 |
A |
G |
18: 38,077,986 (GRCm39) |
V190A |
possibly damaging |
Het |
Htr1a |
A |
G |
13: 105,581,936 (GRCm39) |
N392S |
probably damaging |
Het |
Ift43 |
A |
G |
12: 86,185,592 (GRCm39) |
M59V |
probably benign |
Het |
Jakmip2 |
T |
C |
18: 43,699,014 (GRCm39) |
T482A |
probably damaging |
Het |
Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
Nme8 |
A |
T |
13: 19,875,140 (GRCm39) |
|
probably null |
Het |
Or5h26 |
A |
G |
16: 58,988,209 (GRCm39) |
I99T |
probably benign |
Het |
Peg10 |
CCAACAACAACAACAACAACAACA |
CCAACAACAACAACAACAACA |
6: 4,754,276 (GRCm39) |
|
probably benign |
Het |
Plec |
A |
G |
15: 76,058,015 (GRCm39) |
F3996S |
probably damaging |
Het |
Ppfia4 |
A |
T |
1: 134,237,417 (GRCm39) |
Y961N |
probably damaging |
Het |
Rag1 |
G |
A |
2: 101,474,629 (GRCm39) |
P171L |
probably damaging |
Het |
Rbm24 |
A |
T |
13: 46,572,468 (GRCm39) |
|
probably benign |
Het |
Rsf1 |
A |
AAGGCGACGG |
7: 97,229,111 (GRCm39) |
|
probably null |
Het |
Rxfp3 |
T |
C |
15: 11,035,956 (GRCm39) |
Y472C |
probably damaging |
Het |
Sash1 |
T |
A |
10: 8,615,949 (GRCm39) |
I638F |
probably damaging |
Het |
Sh3glb2 |
G |
A |
2: 30,240,631 (GRCm39) |
R145W |
probably damaging |
Het |
Ston2 |
G |
T |
12: 91,614,870 (GRCm39) |
P513T |
probably damaging |
Het |
Sycp2 |
A |
G |
2: 178,022,721 (GRCm39) |
M470T |
probably damaging |
Het |
Tcfl5 |
G |
T |
2: 180,277,055 (GRCm39) |
L447I |
probably damaging |
Het |
Tlr11 |
T |
C |
14: 50,600,311 (GRCm39) |
W766R |
probably benign |
Het |
Usp33 |
T |
A |
3: 152,074,124 (GRCm39) |
D19E |
possibly damaging |
Het |
Vmn1r123 |
T |
A |
7: 20,896,868 (GRCm39) |
Y253* |
probably null |
Het |
Wdr55 |
G |
A |
18: 36,896,177 (GRCm39) |
G289D |
probably damaging |
Het |
Zfp523 |
C |
T |
17: 28,421,194 (GRCm39) |
T235M |
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 |
R0580:Syt10
|
UTSW |
15 |
89,711,379 (GRCm39) |
missense |
probably benign |
0.15 |
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 |
|
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'- ATACTAAAGTGTAGTTTGCGGTTGC -3'
(R):5'- TGAATGTCTCCAGCGTCGAC -3'
Sequencing Primer
(F):5'- GGTTGCTTAGCTGATCGTAAACCAC -3'
(R):5'- ACTTTAGCGTGGGCACTGAAC -3'
|
Posted On |
2018-07-23 |