Mutagenetix > Incidental Mutation

Incidental Mutation 'R4928:Syt1'

381020

Institutional Source

Beutler Lab

Gene Symbol

Syt1

Ensembl Gene

ENSMUSG00000035864

Gene Name

synaptotagmin I

Synonyms

MMRRC Submission

042529-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4928 (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 108504512 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 315 (H315R)

Ref Sequence

ENSEMBL: ENSMUSP00000100912 (fasta)

Gene Model

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

AlphaFold

P46096

Predicted Effect

possibly damaging
Transcript: ENSMUST00000064054
AA Change: H315R

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000063293
Gene: ENSMUSG00000035864
AA Change: H315R

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

possibly damaging
Transcript: ENSMUST00000105276
AA Change: H315R

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000100912
Gene: ENSMUSG00000035864
AA Change: H315R

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

0.2064

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.5%

Validation Efficiency

98% (123/126)

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: 110 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530021J07Rik	G	T	7: 83,155,878 (GRCm38)		noncoding transcript	Het
Aasdh	T	A	5: 76,896,688 (GRCm38)	K118N	possibly damaging	Het
Abca14	A	T	7: 120,324,580 (GRCm38)	N1620I	possibly damaging	Het
Acap1	A	T	11: 69,885,815 (GRCm38)	S149T	possibly damaging	Het
Adgre1	T	A	17: 57,444,064 (GRCm38)	Y579*	probably null	Het
AI314180	A	G	4: 58,827,073 (GRCm38)	V1020A	probably damaging	Het
Aifm3	T	C	16: 17,500,432 (GRCm38)		probably benign	Het
Aldh16a1	A	G	7: 45,141,961 (GRCm38)	W107R	probably damaging	Het
Amer2	A	T	14: 60,379,445 (GRCm38)	H363L	possibly damaging	Het
Arhgap10	A	G	8: 77,426,328 (GRCm38)		probably null	Het
Arhgef6	A	T	X: 57,234,878 (GRCm38)	D742E	probably damaging	Het
Astn2	A	T	4: 65,729,407 (GRCm38)	N731K	probably damaging	Het
Atp1a2	T	C	1: 172,278,387 (GRCm38)	T904A	possibly damaging	Het
Atr	C	T	9: 95,907,299 (GRCm38)	R1503W	probably damaging	Het
Cdh3	G	T	8: 106,536,610 (GRCm38)	R97L	probably benign	Het
Chst2	C	T	9: 95,406,006 (GRCm38)	V96I	probably benign	Het
Cit	T	A	5: 115,985,797 (GRCm38)	N1464K	probably benign	Het
Col17a1	A	T	19: 47,670,458 (GRCm38)		probably null	Het
Col4a3	G	A	1: 82,710,977 (GRCm38)		probably benign	Het
Copz1	T	A	15: 103,291,330 (GRCm38)	S57R	probably damaging	Het
Cpped1	A	T	16: 11,828,279 (GRCm38)	F227Y	probably damaging	Het
Cyp2j12	A	T	4: 96,102,151 (GRCm38)		probably null	Het
Dctn1	T	A	6: 83,189,207 (GRCm38)	I195N	possibly damaging	Het
Dhrs7b	A	G	11: 60,851,925 (GRCm38)	I148V	probably benign	Het
Dnah17	T	C	11: 118,027,433 (GRCm38)	D4096G	probably damaging	Het
Dnajc13	T	C	9: 104,233,638 (GRCm38)	N145D	possibly damaging	Het
Ercc6l2	T	C	13: 63,894,813 (GRCm38)		probably benign	Het
Fads6	T	G	11: 115,296,561 (GRCm38)	I103L	probably benign	Het
Fam189a1	G	T	7: 64,759,368 (GRCm38)	S426*	probably null	Het
Fat4	T	G	3: 39,010,465 (GRCm38)	Y4857D	probably damaging	Het
Fbxl14	T	A	6: 119,480,710 (GRCm38)	L284Q	probably damaging	Het
Fkbp9	T	C	6: 56,849,670 (GRCm38)	V85A	possibly damaging	Het
Galnt13	T	A	2: 54,516,565 (GRCm38)	V9E	probably damaging	Het
Gm14412	A	T	2: 177,314,580 (GRCm38)	S507R	probably benign	Het
Gm15142	T	A	X: 154,638,419 (GRCm38)		noncoding transcript	Het
Gm4787	T	C	12: 81,378,838 (GRCm38)	E182G	probably benign	Het
Gm6811	C	A	17: 21,094,631 (GRCm38)		noncoding transcript	Het
Gm9791	A	T	3: 34,005,069 (GRCm38)		noncoding transcript	Het
Hoxb7	A	T	11: 96,289,510 (GRCm38)		probably null	Het
Ift122	T	A	6: 115,915,858 (GRCm38)		probably benign	Het
Krt28	C	T	11: 99,374,632 (GRCm38)	V70I	probably benign	Het
Lig1	T	C	7: 13,298,738 (GRCm38)	S459P	probably damaging	Het
Lrfn3	C	T	7: 30,360,623 (GRCm38)	R59H	possibly damaging	Het
Mavs	T	C	2: 131,246,743 (GRCm38)	V489A	probably benign	Het
Mcm8	C	T	2: 132,839,479 (GRCm38)	P625L	probably benign	Het
Megf10	G	T	18: 57,240,673 (GRCm38)	R181L	probably benign	Het
Mgrn1	G	A	16: 4,927,862 (GRCm38)	G440D	probably benign	Het
Mllt3	T	C	4: 87,782,405 (GRCm38)		probably null	Het
Muc5ac	T	A	7: 141,817,902 (GRCm38)	Y2613*	probably null	Het
Myh14	C	T	7: 44,635,502 (GRCm38)	G662S	probably benign	Het
Myod1	T	A	7: 46,377,050 (GRCm38)	N126K	probably damaging	Het
Nae1	A	T	8: 104,516,142 (GRCm38)	H439Q	possibly damaging	Het
Narf	T	A	11: 121,244,939 (GRCm38)	V136E	possibly damaging	Het
Ncapd3	T	A	9: 27,071,735 (GRCm38)	C926*	probably null	Het
Ndufv2	C	A	17: 66,092,658 (GRCm38)		probably null	Het
Neb	T	C	2: 52,212,975 (GRCm38)	S449G	possibly damaging	Het
Nek10	C	T	14: 14,930,577 (GRCm38)	P698L	probably damaging	Het
Nox3	T	A	17: 3,635,275 (GRCm38)	E566V	probably null	Het
Oas1a	C	T	5: 120,905,724 (GRCm38)	R115H	probably benign	Het
Olfr1076	T	A	2: 86,509,125 (GRCm38)	L222H	probably damaging	Het
Olfr1130	C	A	2: 87,608,143 (GRCm38)	L252I	probably benign	Het
Olfr1152	A	G	2: 87,868,230 (GRCm38)	M80V	probably benign	Het
Olfr65	A	G	7: 103,906,672 (GRCm38)	T78A	probably damaging	Het
Pbld2	A	G	10: 63,047,999 (GRCm38)	H142R	probably damaging	Het
Pcdha4	C	T	18: 36,954,816 (GRCm38)	T684M	probably benign	Het
Phc3	G	T	3: 30,950,919 (GRCm38)	T175N	probably damaging	Het
Pigs	G	T	11: 78,329,002 (GRCm38)	V68L	probably damaging	Het
Pik3c2g	T	A	6: 139,967,802 (GRCm38)	D857E	possibly damaging	Het
Pitpnm3	G	A	11: 72,063,172 (GRCm38)	P550S	probably damaging	Het
Pla2g15	G	A	8: 106,163,218 (GRCm38)	W374*	probably null	Het
Ptpn14	G	A	1: 189,822,642 (GRCm38)	C133Y	probably damaging	Het
Ptpn20	A	G	14: 33,614,489 (GRCm38)	N95S	probably benign	Het
Ptrh2	G	T	11: 86,690,036 (GRCm38)	V160F	probably damaging	Het
Rapgef3	T	C	15: 97,757,375 (GRCm38)	D486G	probably damaging	Het
Rev3l	T	G	10: 39,823,985 (GRCm38)	S1493A	probably benign	Het
Rgs9	T	A	11: 109,225,744 (GRCm38)	D411V	probably benign	Het
Rgsl1	A	T	1: 153,793,768 (GRCm38)	Y291N	probably damaging	Het
Rprd2	A	G	3: 95,764,537 (GRCm38)	Y1185H	probably damaging	Het
Rpusd3	A	G	6: 113,416,206 (GRCm38)		probably benign	Het
Scnn1a	T	C	6: 125,322,173 (GRCm38)	I72T	probably damaging	Het
Sdk1	A	T	5: 141,857,003 (GRCm38)		probably benign	Het
Sfmbt2	T	C	2: 10,445,745 (GRCm38)	L277P	probably benign	Het
Sgf29	A	G	7: 126,664,982 (GRCm38)	E73G	probably damaging	Het
Slc12a6	T	A	2: 112,352,961 (GRCm38)	F764L	probably damaging	Het
Slc4a2	T	C	5: 24,435,342 (GRCm38)		probably null	Het
Slc9a3	T	G	13: 74,157,719 (GRCm38)	V285G	probably damaging	Het
Slc9c1	A	G	16: 45,575,409 (GRCm38)	T608A	probably benign	Het
Slfnl1	C	T	4: 120,535,685 (GRCm38)	R325C	probably damaging	Het
Smarcad1	T	A	6: 65,074,914 (GRCm38)	F344I	probably benign	Het
Snrnp70	A	T	7: 45,377,281 (GRCm38)		probably null	Het
Sod2	C	T	17: 13,008,186 (GRCm38)	T9M	probably benign	Het
Spag5	T	A	11: 78,314,373 (GRCm38)	S633T	probably damaging	Het
Spta1	A	T	1: 174,191,056 (GRCm38)	I531L	probably benign	Het
Stra8	A	G	6: 34,933,156 (GRCm38)	E60G	probably benign	Het
Sult2a3	T	A	7: 14,111,557 (GRCm38)	I126F	probably benign	Het
Tanc2	T	C	11: 105,867,762 (GRCm38)	L783P	probably damaging	Het
Thbs2	C	T	17: 14,678,900 (GRCm38)	C646Y	probably damaging	Het
Ticam2	T	A	18: 46,560,922 (GRCm38)	K33*	probably null	Het
Trim17	T	C	11: 58,954,301 (GRCm38)		probably benign	Het
Tsr1	G	A	11: 74,907,879 (GRCm38)	M691I	probably benign	Het
Ttn	T	A	2: 76,762,419 (GRCm38)	I20790F	probably damaging	Het
Tubb2b	A	T	13: 34,128,185 (GRCm38)	Y208*	probably null	Het
Ubr1	T	A	2: 120,914,938 (GRCm38)	I890F	probably damaging	Het
Usp54	T	C	14: 20,562,192 (GRCm38)	E852G	probably damaging	Het
Vmn2r78	T	C	7: 86,954,627 (GRCm38)	V671A	probably damaging	Het
Wipi1	T	C	11: 109,579,649 (GRCm38)	K315E	probably benign	Het
Xrn2	T	C	2: 147,051,718 (GRCm38)	V735A	possibly damaging	Het
Zdbf2	T	A	1: 63,308,814 (GRCm38)	D2117E	possibly damaging	Het
Zfp287	A	T	11: 62,714,136 (GRCm38)	C648*	probably null	Het
Zfp369	A	G	13: 65,296,800 (GRCm38)	T586A	possibly damaging	Het

Other mutations in Syt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01793:Syt1	APN	10	108,583,975 (GRCm38)	missense	possibly damaging	0.49
R1067:Syt1	UTSW	10	108,636,662 (GRCm38)	missense	probably benign
R1300:Syt1	UTSW	10	108,631,821 (GRCm38)	missense	possibly damaging	0.95
R1370:Syt1	UTSW	10	108,690,922 (GRCm38)	missense	probably damaging	0.98
R1575:Syt1	UTSW	10	108,504,500 (GRCm38)	missense	probably benign	0.04
R1656:Syt1	UTSW	10	108,583,915 (GRCm38)	missense	probably damaging	1.00
R2072:Syt1	UTSW	10	108,583,972 (GRCm38)	missense	probably damaging	1.00
R2212:Syt1	UTSW	10	108,504,414 (GRCm38)	missense	possibly damaging	0.89
R2429:Syt1	UTSW	10	108,690,920 (GRCm38)	missense	possibly damaging	0.86
R5216:Syt1	UTSW	10	108,642,257 (GRCm38)	missense	probably benign	0.00
R6161:Syt1	UTSW	10	108,631,807 (GRCm38)	missense	probably damaging	1.00
R6193:Syt1	UTSW	10	108,500,736 (GRCm38)	missense	probably benign	0.38
R7033:Syt1	UTSW	10	108,690,936 (GRCm38)	missense	probably benign
R7535:Syt1	UTSW	10	108,627,422 (GRCm38)	critical splice acceptor site	probably null
R7574:Syt1	UTSW	10	108,504,401 (GRCm38)	missense	probably damaging	1.00
R7913:Syt1	UTSW	10	108,642,248 (GRCm38)	missense	probably benign	0.00
R8003:Syt1	UTSW	10	108,636,573 (GRCm38)	missense	probably damaging	1.00
R8829:Syt1	UTSW	10	108,642,332 (GRCm38)	missense	probably benign	0.07
R9114:Syt1	UTSW	10	108,504,515 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGCGATCTGAAGGCGTGAG -3'
(R):5'- CATGATCTAAAACATGGCTCTGG -3'

Sequencing Primer
(F):5'- GCGTGAGACTGAGTGGGG -3'
(R):5'- TAATGACCTGAGTCTGATCCCGAG -3'

Posted On

2016-04-15