Mutagenetix > Incidental Mutation

Incidental Mutation 'R4029:Syt10'

313137

Institutional Source

Beutler Lab

Gene Symbol

Syt10

Ensembl Gene

ENSMUSG00000063260

Gene Name

synaptotagmin X

Synonyms

MMRRC Submission

040959-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R4029 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89782393-89841860 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89814538 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 201 (E201G)

Ref Sequence

ENSEMBL: ENSMUSP00000029441 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029441]

AlphaFold

Q9R0N4

Predicted Effect

probably benign
Transcript: ENSMUST00000029441
AA Change: E201G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000029441
Gene: ENSMUSG00000063260
AA Change: E201G

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

0.0993

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.0%

Validation Efficiency

100% (31/31)

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm4	A	G	7: 119,693,785	K46R	probably benign	Het
Ank	A	G	15: 27,544,257	N35D	probably damaging	Het
Atp9a	A	T	2: 168,689,325	I174N	probably damaging	Het
Bfsp1	G	A	2: 143,831,829		probably benign	Het
Cenpq	T	C	17: 40,927,249	T125A	probably damaging	Het
Dcun1d4	A	G	5: 73,534,637	D89G	probably damaging	Het
Dip2b	A	G	15: 100,186,172	Y892C	probably damaging	Het
Dmrt2	T	G	19: 25,678,134	S366A	probably damaging	Het
Exoc7	C	T	11: 116,306,988		probably benign	Het
Fam129a	G	A	1: 151,695,690	V239I	probably benign	Het
Fam159a	G	T	4: 108,383,215	C43*	probably null	Het
Gabra4	G	T	5: 71,572,189	T390K	probably benign	Het
Gm13101	T	A	4: 143,965,784	T216S	probably benign	Het
Gpr68	A	G	12: 100,879,216	L23P	probably damaging	Het
Krt17	T	A	11: 100,257,523	N364I	probably damaging	Het
Lefty1	T	C	1: 180,937,781	S305P	probably benign	Het
Ly6g6d	T	A	17: 35,071,660	Q98L	probably benign	Het
Muc6	G	A	7: 141,638,400	S2120F	possibly damaging	Het
Nck2	T	C	1: 43,554,091	F153L	probably benign	Het
Nme4	T	C	17: 26,094,222		probably null	Het
Nup35	A	G	2: 80,652,974	D172G	probably benign	Het
Obscn	T	C	11: 59,131,646	R758G	possibly damaging	Het
Oog4	A	T	4: 143,440,200	N11K	probably benign	Het
Phlpp1	T	A	1: 106,392,549	S1425T	probably damaging	Het
Pkd1l3	T	A	8: 109,623,971	S483T	possibly damaging	Het
Pld2	A	G	11: 70,554,905	N655S	probably damaging	Het
Psmd2	G	A	16: 20,663,205	G896D	probably damaging	Het
Rcn1	G	T	2: 105,399,050	Y52*	probably null	Het
Reck	T	C	4: 43,922,931	I402T	probably damaging	Het
Ston2	T	C	12: 91,648,263	Q457R	possibly damaging	Het
Ube4a	G	A	9: 44,949,900		probably benign	Het
Wdr49	C	A	3: 75,323,665	L563F	probably benign	Het

Other mutations in Syt10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02718:Syt10	APN	15	89814079	missense	probably damaging	1.00
IGL02976:Syt10	APN	15	89814479	missense	probably benign	0.26
R0200:Syt10	UTSW	15	89826941	missense	probably benign	0.01
R0306:Syt10	UTSW	15	89826988	missense	probably benign	0.02
R0580:Syt10	UTSW	15	89827176	missense	probably benign	0.15
R0608:Syt10	UTSW	15	89826941	missense	probably benign	0.01
R1705:Syt10	UTSW	15	89790776	missense	probably damaging	1.00
R1706:Syt10	UTSW	15	89790776	missense	probably damaging	1.00
R1921:Syt10	UTSW	15	89790776	missense	probably damaging	1.00
R1922:Syt10	UTSW	15	89790776	missense	probably damaging	1.00
R2072:Syt10	UTSW	15	89790776	missense	probably damaging	1.00
R2074:Syt10	UTSW	15	89790776	missense	probably damaging	1.00
R2119:Syt10	UTSW	15	89790776	missense	probably damaging	1.00
R2120:Syt10	UTSW	15	89790776	missense	probably damaging	1.00
R2121:Syt10	UTSW	15	89790776	missense	probably damaging	1.00
R3812:Syt10	UTSW	15	89790797	missense	probably benign
R4270:Syt10	UTSW	15	89790892	missense	probably benign	0.39
R4536:Syt10	UTSW	15	89782622	missense	probably damaging	0.99
R5333:Syt10	UTSW	15	89841729	missense	probably benign	0.00
R6042:Syt10	UTSW	15	89841621	missense	probably benign	0.13
R6104:Syt10	UTSW	15	89826864	missense	probably benign	0.02
R6445:Syt10	UTSW	15	89814268	missense	probably damaging	1.00
R6470:Syt10	UTSW	15	89792601	missense	probably damaging	1.00
R6472:Syt10	UTSW	15	89814558	missense	probably benign
R6679:Syt10	UTSW	15	89814371	missense	probably damaging	1.00
R7048:Syt10	UTSW	15	89790805	missense	probably damaging	1.00
R7128:Syt10	UTSW	15	89814111	missense	probably damaging	1.00
R7315:Syt10	UTSW	15	89814338	missense	probably damaging	0.99
R7352:Syt10	UTSW	15	89814456	missense	probably benign	0.42
R7686:Syt10	UTSW	15	89814157	missense	probably damaging	1.00
R7789:Syt10	UTSW	15	89826898	missense	probably damaging	1.00
R7937:Syt10	UTSW	15	89782617	missense	probably damaging	1.00
R8532:Syt10	UTSW	15	89792686	missense	probably damaging	1.00
R9578:Syt10	UTSW	15	89790919	missense	possibly damaging	0.80
X0057:Syt10	UTSW	15	89826928	missense	probably damaging	1.00
Z1088:Syt10	UTSW	15	89841639	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CCTGTGAAATCTTTAGCTGGGAG -3'
(R):5'- CCAAGGACAATGACACTTTTCTCC -3'

Sequencing Primer
(F):5'- TCTTTAGCTGGGAGATCTAAAGC -3'
(R):5'- AGGACAATGACACTTTTCTCCTGATC -3'

Posted On

2015-04-30