Incidental Mutation 'R8532:Syt10'
| ID |
659125 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Syt10
|
| Ensembl Gene |
ENSMUSG00000063260 |
| Gene Name |
synaptotagmin X |
| Synonyms |
|
| MMRRC Submission |
068502-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R8532 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
89666596-89726063 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 89676889 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 366
(E366K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029441
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029441]
|
| AlphaFold |
Q9R0N4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029441
AA Change: E366K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029441
Gene: ENSMUSG00000063260
AA Change: E366K
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
C |
A |
2: 69,090,035 (GRCm39) |
V950L |
possibly damaging |
Het |
| Acsl6 |
T |
A |
11: 54,218,001 (GRCm39) |
V238E |
probably damaging |
Het |
| Adam2 |
C |
A |
14: 66,293,970 (GRCm39) |
A286S |
probably damaging |
Het |
| Ankrd17 |
A |
T |
5: 90,412,679 (GRCm39) |
I1215N |
probably damaging |
Het |
| Anxa2 |
T |
C |
9: 69,374,594 (GRCm39) |
Y24H |
probably benign |
Het |
| Brms1l |
T |
C |
12: 55,891,264 (GRCm39) |
L106P |
probably damaging |
Het |
| Cacna1e |
A |
T |
1: 154,341,510 (GRCm39) |
L1166Q |
probably damaging |
Het |
| Ccdc110 |
T |
C |
8: 46,396,032 (GRCm39) |
L641P |
probably damaging |
Het |
| Cep78 |
T |
A |
19: 15,936,948 (GRCm39) |
D586V |
possibly damaging |
Het |
| Chek1 |
T |
C |
9: 36,630,988 (GRCm39) |
D142G |
probably benign |
Het |
| Dennd1b |
A |
G |
1: 139,097,912 (GRCm39) |
|
probably benign |
Het |
| Eif2b5 |
T |
C |
16: 20,323,956 (GRCm39) |
V433A |
probably damaging |
Het |
| Enpep |
A |
T |
3: 129,070,302 (GRCm39) |
Y868* |
probably null |
Het |
| Fam149a |
T |
A |
8: 45,801,991 (GRCm39) |
T414S |
possibly damaging |
Het |
| Ggnbp2 |
C |
T |
11: 84,728,815 (GRCm39) |
|
probably null |
Het |
| Gm3604 |
A |
T |
13: 62,516,769 (GRCm39) |
C530S |
possibly damaging |
Het |
| Gtf2e2 |
T |
C |
8: 34,248,633 (GRCm39) |
F140S |
probably damaging |
Het |
| Ighv1-63 |
T |
C |
12: 115,459,270 (GRCm39) |
D109G |
probably damaging |
Het |
| Igkv3-9 |
G |
C |
6: 70,565,706 (GRCm39) |
V102L |
possibly damaging |
Het |
| Kif12 |
G |
A |
4: 63,087,656 (GRCm39) |
Q276* |
probably null |
Het |
| Lrba |
C |
T |
3: 86,664,790 (GRCm39) |
R557C |
probably damaging |
Het |
| Matn2 |
C |
A |
15: 34,316,699 (GRCm39) |
Q14K |
probably benign |
Het |
| Mical2 |
C |
A |
7: 111,917,751 (GRCm39) |
F369L |
probably damaging |
Het |
| Or13a17 |
T |
C |
7: 140,271,712 (GRCm39) |
V298A |
probably damaging |
Het |
| Or52e8b |
T |
C |
7: 104,673,773 (GRCm39) |
Y138C |
probably damaging |
Het |
| Or9m2 |
A |
G |
2: 87,820,913 (GRCm39) |
T153A |
probably damaging |
Het |
| Pramel1 |
A |
G |
4: 143,125,125 (GRCm39) |
T350A |
probably benign |
Het |
| Rcbtb1 |
T |
A |
14: 59,447,973 (GRCm39) |
C72* |
probably null |
Het |
| Ros1 |
T |
G |
10: 51,974,852 (GRCm39) |
T1578P |
possibly damaging |
Het |
| Rps6kb2 |
A |
T |
19: 4,209,243 (GRCm39) |
I200N |
probably damaging |
Het |
| Slc17a4 |
C |
A |
13: 24,088,718 (GRCm39) |
W223L |
probably damaging |
Het |
| Slitrk5 |
A |
T |
14: 111,916,909 (GRCm39) |
M178L |
probably benign |
Het |
| Snrpa |
A |
G |
7: 26,891,027 (GRCm39) |
|
probably null |
Het |
| Tbc1d16 |
A |
G |
11: 119,045,993 (GRCm39) |
F484L |
probably benign |
Het |
| Tbc1d30 |
A |
T |
10: 121,103,335 (GRCm39) |
W566R |
probably damaging |
Het |
| Tcaf1 |
A |
T |
6: 42,655,065 (GRCm39) |
I551K |
probably damaging |
Het |
| Tdrd7 |
A |
G |
4: 46,016,920 (GRCm39) |
T654A |
probably damaging |
Het |
| Timm44 |
A |
T |
8: 4,310,549 (GRCm39) |
I401N |
possibly damaging |
Het |
| Xcl1 |
T |
A |
1: 164,759,515 (GRCm39) |
T62S |
probably damaging |
Het |
| Zbtb11 |
A |
T |
16: 55,811,252 (GRCm39) |
H470L |
probably benign |
Het |
| Zfp57 |
A |
G |
17: 37,320,793 (GRCm39) |
T213A |
possibly damaging |
Het |
| Zfp715 |
A |
C |
7: 42,948,829 (GRCm39) |
I377S |
possibly damaging |
Het |
| Zfp715 |
A |
T |
7: 42,949,134 (GRCm39) |
D275E |
probably benign |
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 |
|
|
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 |
|
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'- GCTTTCATGTTATCCCACAGCAG -3'
(R):5'- CAACTGCGATAGACTCTTCTTACTAAC -3'
Sequencing Primer
(F):5'- TCCCACAGCAGAGAAATTATTAAAAG -3'
(R):5'- CTCCATTCATAAGAACTCCGTTAC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation