Incidental Mutation 'R4270:Syt10'
ID |
322139 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Syt10
|
Ensembl Gene |
ENSMUSG00000063260 |
Gene Name |
synaptotagmin X |
Synonyms |
|
MMRRC Submission |
041075-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.084)
|
Stock # |
R4270 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
89666596-89726063 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 89675095 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 417
(R417L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029441
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029441]
|
AlphaFold |
Q9R0N4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029441
AA Change: R417L
PolyPhen 2
Score 0.386 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000029441 Gene: ENSMUSG00000063260 AA Change: R417L
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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
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: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ash1l |
T |
A |
3: 88,889,347 (GRCm39) |
C409S |
probably benign |
Het |
Aspg |
T |
C |
12: 112,087,629 (GRCm39) |
S327P |
probably damaging |
Het |
Ccdc88c |
G |
T |
12: 100,913,478 (GRCm39) |
Q516K |
probably damaging |
Het |
Cdh11 |
T |
A |
8: 103,391,258 (GRCm39) |
D326V |
possibly damaging |
Het |
Ctsa |
G |
T |
2: 164,677,222 (GRCm39) |
M210I |
probably benign |
Het |
Ctsh |
A |
G |
9: 89,943,651 (GRCm39) |
H92R |
probably damaging |
Het |
Fanca |
A |
G |
8: 123,995,533 (GRCm39) |
L117P |
probably damaging |
Het |
Foxo1 |
A |
G |
3: 52,252,826 (GRCm39) |
T330A |
probably benign |
Het |
Ighv1-43 |
C |
G |
12: 114,909,772 (GRCm39) |
G50A |
probably benign |
Het |
Igkv9-120 |
G |
T |
6: 68,027,351 (GRCm39) |
R88S |
possibly damaging |
Het |
Kif26a |
C |
T |
12: 112,139,848 (GRCm39) |
S460F |
probably damaging |
Het |
Mxra8 |
C |
A |
4: 155,925,594 (GRCm39) |
P98Q |
probably damaging |
Het |
Nbr1 |
T |
C |
11: 101,458,048 (GRCm39) |
Y276H |
possibly damaging |
Het |
Nckap1l |
T |
C |
15: 103,381,549 (GRCm39) |
L430P |
possibly damaging |
Het |
Nubp2 |
A |
T |
17: 25,104,567 (GRCm39) |
C58S |
probably damaging |
Het |
Or8c10 |
A |
G |
9: 38,278,997 (GRCm39) |
N52D |
probably damaging |
Het |
Pramel51 |
A |
T |
12: 88,145,053 (GRCm39) |
I91K |
probably damaging |
Het |
Rbms3 |
T |
A |
9: 116,885,816 (GRCm39) |
N94I |
probably damaging |
Het |
Rimbp2 |
T |
G |
5: 128,896,841 (GRCm39) |
N23T |
probably benign |
Het |
Rwdd3 |
T |
C |
3: 120,952,550 (GRCm39) |
D147G |
probably damaging |
Het |
Slc30a5 |
T |
G |
13: 100,965,521 (GRCm39) |
R29S |
probably benign |
Het |
Trim58 |
T |
C |
11: 58,542,093 (GRCm39) |
V351A |
probably damaging |
Het |
Trpc3 |
G |
T |
3: 36,717,074 (GRCm39) |
Y321* |
probably null |
Het |
Vmn2r107 |
G |
T |
17: 20,576,041 (GRCm39) |
V124F |
probably benign |
Het |
Xkr7 |
T |
C |
2: 152,896,235 (GRCm39) |
V363A |
possibly damaging |
Het |
Zfp597 |
A |
T |
16: 3,689,954 (GRCm39) |
M1K |
probably null |
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 |
|
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'- ATAACCTGGACGCAGATGC -3'
(R):5'- GTAAGATCAGGAGTTTGTAACCCC -3'
Sequencing Primer
(F):5'- AGATGCGACCTGGCTGTGAC -3'
(R):5'- GATCAGGAGTTTGTAACCCCCAAAG -3'
|
Posted On |
2015-06-20 |