Incidental Mutation 'R6445:Syt10'
| ID |
519173 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Syt10
|
| Ensembl Gene |
ENSMUSG00000063260 |
| Gene Name |
synaptotagmin X |
| Synonyms |
|
| MMRRC Submission |
044388-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R6445 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
89666596-89726063 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 89698471 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 291
(T291I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029441
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029441]
|
| AlphaFold |
Q9R0N4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029441
AA Change: T291I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000029441
Gene: ENSMUSG00000063260
AA Change: T291I
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.7%
- 10x: 98.2%
- 20x: 93.9%
|
| Validation Efficiency |
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| BC061237 |
C |
A |
14: 44,738,731 (GRCm39) |
D43E |
probably benign |
Het |
| Cdh22 |
T |
C |
2: 165,012,612 (GRCm39) |
I158V |
probably damaging |
Het |
| Cntrl |
A |
G |
2: 35,052,860 (GRCm39) |
I1676V |
probably benign |
Het |
| Crem |
T |
C |
18: 3,309,671 (GRCm39) |
Y18C |
probably benign |
Het |
| Cyp2b9 |
A |
G |
7: 25,886,412 (GRCm39) |
I146V |
probably benign |
Het |
| Efcab14 |
C |
A |
4: 115,613,668 (GRCm39) |
H205Q |
possibly damaging |
Het |
| Efcab6 |
T |
C |
15: 83,752,558 (GRCm39) |
Y1437C |
probably damaging |
Het |
| Gm3055 |
T |
A |
10: 81,945,506 (GRCm39) |
N375K |
possibly damaging |
Het |
| Gm36864 |
A |
T |
7: 43,886,842 (GRCm39) |
Q245L |
possibly damaging |
Het |
| Gna11 |
A |
T |
10: 81,369,167 (GRCm39) |
I132N |
probably damaging |
Het |
| Ikzf4 |
C |
A |
10: 128,472,424 (GRCm39) |
|
probably null |
Het |
| Il9r |
C |
T |
11: 32,141,000 (GRCm39) |
G346D |
possibly damaging |
Het |
| Krt71 |
C |
T |
15: 101,648,775 (GRCm39) |
R190Q |
probably benign |
Het |
| Mfsd8 |
T |
C |
3: 40,791,553 (GRCm39) |
I54V |
probably damaging |
Het |
| Nktr |
G |
T |
9: 121,577,480 (GRCm39) |
|
probably benign |
Het |
| Or51f23c-ps1 |
T |
C |
7: 102,431,465 (GRCm39) |
S261P |
probably benign |
Het |
| Or5ac17 |
A |
T |
16: 59,036,472 (GRCm39) |
F168Y |
probably damaging |
Het |
| Peli2 |
T |
C |
14: 48,493,905 (GRCm39) |
S376P |
possibly damaging |
Het |
| Pik3r2 |
C |
T |
8: 71,224,670 (GRCm39) |
A202T |
probably benign |
Het |
| Pms1 |
A |
T |
1: 53,231,353 (GRCm39) |
I832K |
possibly damaging |
Het |
| Reln |
T |
C |
5: 22,124,212 (GRCm39) |
K2765E |
probably benign |
Het |
| Rp1 |
A |
T |
1: 4,296,840 (GRCm39) |
N744K |
unknown |
Het |
| Smcr8 |
T |
C |
11: 60,669,841 (GRCm39) |
Y330H |
possibly damaging |
Het |
| Sned1 |
A |
T |
1: 93,211,318 (GRCm39) |
R281S |
possibly damaging |
Het |
| Synm |
A |
G |
7: 67,383,393 (GRCm39) |
V1423A |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,744,880 (GRCm39) |
|
probably benign |
Het |
| Wdr3 |
T |
C |
3: 100,063,719 (GRCm39) |
T186A |
possibly damaging |
Het |
| Zfp451 |
A |
C |
1: 33,812,092 (GRCm39) |
D874E |
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 |
|
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'- TTCCCTGGAGAGATCAGAGAC -3'
(R):5'- CAAGCAGAAATCGGTTGACTCC -3'
Sequencing Primer
(F):5'- CCCAATCATGTCGTGTC -3'
(R):5'- GACCTGTGGGAAACTTAACTTTGC -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation