Mutagenetix > Incidental Mutation

Incidental Mutation 'R1575:Syt1'

171114

Institutional Source

Beutler Lab

Gene Symbol

Syt1

Ensembl Gene

ENSMUSG00000035864

Gene Name

synaptotagmin I

Synonyms

MMRRC Submission

039613-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1575 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108497650-109010982 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108504500 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 319 (N319S)

Ref Sequence

ENSEMBL: ENSMUSP00000100912 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064054] [ENSMUST00000105276]

AlphaFold

P46096

Predicted Effect

probably benign
Transcript: ENSMUST00000064054
AA Change: N319S

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000063293
Gene: ENSMUSG00000035864
AA Change: N319S

Domain	Start	End	E-Value	Type
low complexity region	9	22	N/A	INTRINSIC
PDB:4ISQ\|F	32	52	1e-5	PDB
transmembrane domain	57	79	N/A	INTRINSIC
low complexity region	131	141	N/A	INTRINSIC
C2	157	259	3.2e-25	SMART
C2	288	402	5.8e-26	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105276
AA Change: N319S

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000100912
Gene: ENSMUSG00000035864
AA Change: N319S

Domain	Start	End	E-Value	Type
low complexity region	9	22	N/A	INTRINSIC
PDB:4ISQ\|F	32	52	1e-5	PDB
transmembrane domain	57	79	N/A	INTRINSIC
low complexity region	131	141	N/A	INTRINSIC
C2	157	259	3.2e-25	SMART
C2	288	402	5.9e-26	SMART

Meta Mutation Damage Score

0.0940

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.5%

Validation Efficiency

100% (72/72)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The synaptotagmins are integral membrane proteins of synaptic vesicles thought to serve as Ca(2+) sensors in the process of vesicular trafficking and exocytosis. Calcium binding to synaptotagmin-1 participates in triggering neurotransmitter release at the synapse (Fernandez-Chacon et al., 2001 [PubMed 11242035]).[supplied by OMIM, Jul 2010]
PHENOTYPE: Homozygous null mice do not suckle, show impaired synaptic transmission and Ca2+-evoked neurotransmitter release, and die by 48 hrs of life. Knock-in mice bearing a missense mutation show enhanced synaptic depression while those carrying a point mutationshow reduced synaptic release probability. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl2	T	A	3: 148,852,762	T437S	probably benign	Het
Akna	A	G	4: 63,379,333	F828S	probably benign	Het
Alg9	G	T	9: 50,775,502	A40S	possibly damaging	Het
Alox8	T	A	11: 69,185,241	H628L	possibly damaging	Het
Aox3	T	C	1: 58,152,554	W422R	probably benign	Het
Atp13a4	T	C	16: 29,409,710	D984G	probably benign	Het
Bcam	T	C	7: 19,760,382	E363G	possibly damaging	Het
Cadps2	C	A	6: 23,429,218	V519F	probably damaging	Het
Calca	A	G	7: 114,635,161	Y18H	probably damaging	Het
Cd70	A	G	17: 57,146,364	I100T	probably damaging	Het
Cdk4	T	A	10: 127,064,651	H95Q	probably damaging	Het
Chchd1	T	A	14: 20,703,342	N11K	probably damaging	Het
Cma2	T	A	14: 55,972,815	N52K	probably damaging	Het
Cyp3a16	A	G	5: 145,436,457	V500A	probably benign	Het
Dicer1	A	G	12: 104,721,969		probably null	Het
Dnajc13	A	G	9: 104,156,838	S2206P	probably benign	Het
Dtl	T	C	1: 191,561,546		probably null	Het
Fam186b	T	C	15: 99,286,971	T24A	probably benign	Het
Fbxw21	A	G	9: 109,161,916	V25A	probably benign	Het
Gins1	T	C	2: 150,912,838	S45P	probably benign	Het
Gtpbp2	T	A	17: 46,165,943	V349D	probably damaging	Het
Hyal5	G	T	6: 24,876,793	D222Y	probably damaging	Het
Itgal	A	G	7: 127,300,888		probably null	Het
Klk14	A	G	7: 43,693,953		probably null	Het
Lama1	T	A	17: 67,810,409	L2518Q	possibly damaging	Het
Lrrc2	G	A	9: 110,979,487	G264D	probably benign	Het
Ltbp4	A	G	7: 27,322,820	S893P	probably damaging	Het
Mast4	G	A	13: 102,739,263	P1107L	probably damaging	Het
Mbd1	T	A	18: 74,275,419		probably null	Het
Naip2	A	T	13: 100,155,021	D1136E	probably benign	Het
Naip2	G	A	13: 100,155,029		probably benign	Het
Ncan	G	A	8: 70,110,198	T470I	probably benign	Het
Npy1r	A	T	8: 66,704,161	I78F	probably damaging	Het
Olfr1491	A	T	19: 13,705,525	M233L	probably benign	Het
Olfr917	G	A	9: 38,665,277	T189M	probably damaging	Het
Palb2	A	T	7: 122,110,838		probably null	Het
Pax3	T	C	1: 78,103,484	T422A	probably benign	Het
Pebp1	A	T	5: 117,286,164	D72E	possibly damaging	Het
Pnliprp1	A	T	19: 58,740,469	T363S	probably benign	Het
Rbm44	G	A	1: 91,156,843		probably null	Het
Rbm47	T	A	5: 66,025,015	Y425F	probably benign	Het
Robo3	G	T	9: 37,429,661	A83E	probably damaging	Het
Rrm1	A	G	7: 102,456,514	Y279C	probably damaging	Het
Rslcan18	A	T	13: 67,108,057		probably benign	Het
Scara5	C	A	14: 65,730,865	Q196K	probably benign	Het
Setd1b	C	T	5: 123,163,147		probably benign	Het
Siah1a	A	G	8: 86,725,241	F205S	probably damaging	Het
Smr2	AT	ATT	5: 88,108,824		probably null	Het
Ssu72	A	G	4: 155,731,357	D86G	probably benign	Het
St7	G	T	6: 17,886,111	K357N	probably damaging	Het
Sv2b	G	A	7: 75,147,677	T323I	probably damaging	Het
Tanc1	T	A	2: 59,791,651	F371L	probably damaging	Het
Tcf20	C	A	15: 82,855,492	G586V	probably benign	Het
Tg	T	C	15: 66,729,685		probably null	Het
Tyk2	A	T	9: 21,115,462	N620K	probably benign	Het
Ube2j1	T	A	4: 33,045,116	S130T	probably benign	Het
Ubr2	G	T	17: 46,932,492	P1696H	probably damaging	Het
Ubr5	A	T	15: 38,040,841	D266E	probably damaging	Het
Vipr2	A	G	12: 116,144,272	T426A	probably benign	Het
Vmn2r104	A	T	17: 20,042,215	W218R	probably damaging	Het
Vmn2r83	T	A	10: 79,479,122	N401K	probably damaging	Het
Vwf	A	G	6: 125,655,251	E82G	unknown	Het
Vwf	T	A	6: 125,663,571	Y2323*	probably null	Het
Wdr76	T	G	2: 121,528,921	V329G	probably damaging	Het
Zan	A	G	5: 137,461,952	C1226R	unknown	Het
Zbtb16	G	T	9: 48,832,272	Q247K	probably damaging	Het
Zfp541	T	C	7: 16,078,715	V431A	possibly damaging	Het

Other mutations in Syt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01793:Syt1	APN	10	108583975	missense	possibly damaging	0.49
R1067:Syt1	UTSW	10	108636662	missense	probably benign
R1300:Syt1	UTSW	10	108631821	missense	possibly damaging	0.95
R1370:Syt1	UTSW	10	108690922	missense	probably damaging	0.98
R1656:Syt1	UTSW	10	108583915	missense	probably damaging	1.00
R2072:Syt1	UTSW	10	108583972	missense	probably damaging	1.00
R2212:Syt1	UTSW	10	108504414	missense	possibly damaging	0.89
R2429:Syt1	UTSW	10	108690920	missense	possibly damaging	0.86
R4928:Syt1	UTSW	10	108504512	missense	possibly damaging	0.95
R5216:Syt1	UTSW	10	108642257	missense	probably benign	0.00
R6161:Syt1	UTSW	10	108631807	missense	probably damaging	1.00
R6193:Syt1	UTSW	10	108500736	missense	probably benign	0.38
R7033:Syt1	UTSW	10	108690936	missense	probably benign
R7535:Syt1	UTSW	10	108627422	critical splice acceptor site	probably null
R7574:Syt1	UTSW	10	108504401	missense	probably damaging	1.00
R7913:Syt1	UTSW	10	108642248	missense	probably benign	0.00
R8003:Syt1	UTSW	10	108636573	missense	probably damaging	1.00
R8829:Syt1	UTSW	10	108642332	missense	probably benign	0.07
R9114:Syt1	UTSW	10	108504515	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGCGATCTGAAGGCGTGAGAC -3'
(R):5'- ACATGGCAATAAGCCTGCCAGAAAG -3'

Sequencing Primer
(F):5'- CTGAAGGCGTGAGACTGAGTG -3'
(R):5'- tgccgccaaacctaatgac -3'

Posted On

2014-04-13