Mutagenetix > Incidental Mutations

Incidental Mutation 'R4536:Syt10'

333343

Institutional Source

Beutler Lab

Gene Symbol

Syt10

Ensembl Gene

ENSMUSG00000063260

Gene Name

synaptotagmin X

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

R4536 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

89782393-89841860 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 89782622 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 509 (D509N)

Ref Sequence

ENSEMBL: ENSMUSP00000029441 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000029441
AA Change: D509N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000029441
Gene: ENSMUSG00000063260
AA Change: D509N

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: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.7%

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amot	A	G	X: 145,480,142	S398P	probably benign	Het
Arhgef17	G	C	7: 100,929,854	S629C	probably damaging	Het
Atp8b2	G	A	3: 89,941,784	A1081V	probably benign	Het
Atpif1	A	C	4: 132,533,559	S4A	possibly damaging	Het
Atr	A	G	9: 95,874,418	D867G	probably benign	Het
C1qtnf3	G	A	15: 10,972,027	S206N	probably damaging	Het
Cep152	A	C	2: 125,602,947		probably null	Het
Cetn1	T	C	18: 9,618,998	E141G	probably damaging	Het
Erbb4	A	T	1: 68,346,622	N269K	probably damaging	Het
Exoc4	C	T	6: 33,277,244	R112C	probably damaging	Het
Frmd4b	T	A	6: 97,310,732	Q241L	possibly damaging	Het
Fyco1	A	G	9: 123,838,888	V91A	probably damaging	Het
Gls2	G	A	10: 128,200,937	V196I	probably benign	Het
Gm15448	T	A	7: 3,822,252	M464L	probably benign	Het
Gm5426	G	A	10: 96,136,702	A34T	probably benign	Het
Hormad1	T	C	3: 95,585,141	V343A	probably benign	Het
Incenp	T	C	19: 9,883,939	N450S	unknown	Het
Klhl1	A	C	14: 96,136,583		probably null	Het
Mettl4	C	A	17: 94,735,505	S301I	possibly damaging	Het
Mlxip	G	A	5: 123,450,503	D819N	probably damaging	Het
Olfr975	A	T	9: 39,950,435	L112Q	probably damaging	Het
Pam	T	A	1: 97,844,699	K440*	probably null	Het
Phldb2	T	C	16: 45,770,681	M996V	probably benign	Het
Rad51ap2	A	G	12: 11,457,849	S591G	possibly damaging	Het
Rfx6	A	G	10: 51,723,784	N542S	probably benign	Het
Slc44a4	T	A	17: 34,923,839	C254S	probably damaging	Het
Sptbn2	C	T	19: 4,732,602	A522V	probably damaging	Het
St5	A	T	7: 109,531,156	S879R	probably damaging	Het
Tango2	A	G	16: 18,324,355		probably null	Het
Tfpi2	T	C	6: 3,968,044	N32S	possibly damaging	Het
Trafd1	T	C	5: 121,379,683		probably null	Het
Ttll2	A	T	17: 7,351,721	I269N	probably benign	Het
Tysnd1	G	A	10: 61,696,053	W161*	probably null	Het
Uggt2	A	T	14: 119,019,558	M1088K	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
R4029:Syt10	UTSW	15	89814538	missense	probably benign
R4270:Syt10	UTSW	15	89790892	missense	probably benign	0.39
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
X0057:Syt10	UTSW	15	89826928	missense	probably damaging	1.00
Z1088:Syt10	UTSW	15	89841639	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CTAAGGGCCATTAGTACTCAAGTAG -3'
(R):5'- CCTTGGAAGGTAAGTTCTGATGAAC -3'

Sequencing Primer
(F):5'- TGCTCAAAGTTGAAGACAAATAAGCC -3'
(R):5'- ACATGGAGGTTACATAGATCATCAC -3'

Posted On

2015-08-18