Mutagenetix > Incidental Mutation

Incidental Mutation 'R5216:Syt1'

403487

Institutional Source

Beutler Lab

Gene Symbol

Syt1

Ensembl Gene

ENSMUSG00000035864

Gene Name

synaptotagmin I

Synonyms

G630098F17Rik

MMRRC Submission

042789-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5216 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

108333511-108846843 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108478118 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 102 (N102S)

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: N102S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000063293
Gene: ENSMUSG00000035864
AA Change: N102S

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: N102S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000100912
Gene: ENSMUSG00000035864
AA Change: N102S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156979

SMART Domains

Protein: ENSMUSP00000116981
Gene: ENSMUSG00000035864

Domain	Start	End	E-Value	Type
low complexity region	9	22	N/A	INTRINSIC
PDB:4ISQ\|F	32	52	7e-6	PDB
transmembrane domain	57	79	N/A	INTRINSIC
low complexity region	128	138	N/A	INTRINSIC
C2	154	236	2.83e-6	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.9%

Validation Efficiency

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700097O09Rik	A	T	12: 55,107,947 (GRCm39)	V84D	probably damaging	Het
Abcb1b	T	C	5: 8,863,705 (GRCm39)	V220A	probably benign	Het
Actg1	A	T	11: 120,238,580 (GRCm39)	M82K	probably damaging	Het
Ahi1	T	C	10: 20,835,975 (GRCm39)	S103P	probably benign	Het
Aldh1b1	G	T	4: 45,803,652 (GRCm39)	G397C	probably damaging	Het
Arhgef3	A	G	14: 27,123,799 (GRCm39)	T507A	probably benign	Het
Atg7	A	G	6: 114,701,910 (GRCm39)	D682G	probably damaging	Het
Atp13a3	A	G	16: 30,159,102 (GRCm39)	I783T	probably damaging	Het
Atp9a	T	C	2: 168,516,808 (GRCm39)	I362V	probably benign	Het
Birc6	T	A	17: 74,920,465 (GRCm39)	I168K	probably damaging	Het
Brca2	T	A	5: 150,466,445 (GRCm39)	Y2070N	probably damaging	Het
Cabp7	A	G	11: 4,688,873 (GRCm39)	I199T	probably damaging	Het
Cacng5	A	G	11: 107,768,315 (GRCm39)	F231L	possibly damaging	Het
Cngb3	T	A	4: 19,415,729 (GRCm39)	V413D	possibly damaging	Het
Col24a1	G	A	3: 145,021,071 (GRCm39)	E481K	possibly damaging	Het
Cspg4b	G	A	13: 113,478,947 (GRCm39)	C1497Y	probably benign	Het
Ctr9	T	A	7: 110,644,665 (GRCm39)	I560N	possibly damaging	Het
Dip2b	C	T	15: 100,109,867 (GRCm39)	R1451C	probably damaging	Het
Fat3	T	C	9: 16,288,833 (GRCm39)	D230G	probably damaging	Het
Gramd4	G	A	15: 86,018,986 (GRCm39)		probably null	Het
Grb14	C	T	2: 64,747,653 (GRCm39)	V369I	probably benign	Het
Hoxd1	A	T	2: 74,594,695 (GRCm39)	N317Y	probably damaging	Het
Kcnc4	A	G	3: 107,346,757 (GRCm39)	S623P	probably benign	Het
Klhl20	A	G	1: 160,921,249 (GRCm39)		probably null	Het
Lamc1	C	A	1: 153,103,442 (GRCm39)	V1375L	probably damaging	Het
Lpin2	C	T	17: 71,549,755 (GRCm39)	S640L	probably damaging	Het
Ltbp4	AATTCAGGCCAAGGCTGGGATTCAGGCCGAGGCCGGGATTCAGGCCTAGGCTGGGATTCAGGC	AATTCAGGCCTAGGCTGGGATTCAGGC	7: 27,026,736 (GRCm39)		probably benign	Het
Mgll	T	A	6: 88,743,311 (GRCm39)	C110*	probably null	Het
Mmp14	A	G	14: 54,675,120 (GRCm39)	N251D	possibly damaging	Het
Or1e33	A	T	11: 73,738,262 (GRCm39)	S230T	probably damaging	Het
Or52k2	A	G	7: 102,254,028 (GRCm39)	T156A	probably benign	Het
Or7e166	T	A	9: 19,624,585 (GRCm39)	V154E	probably benign	Het
Pfkl	T	G	10: 77,845,504 (GRCm39)	D5A	probably damaging	Het
Pik3c3	A	G	18: 30,406,029 (GRCm39)	Y9C	probably damaging	Het
Pkhd1l1	T	A	15: 44,359,043 (GRCm39)	Y417*	probably null	Het
Rptor	G	A	11: 119,734,539 (GRCm39)	G514D	probably damaging	Het
Sulf1	T	A	1: 12,867,098 (GRCm39)	M94K	probably benign	Het
Synrg	A	G	11: 83,873,022 (GRCm39)	T157A	probably damaging	Het
Tnip2	C	T	5: 34,661,149 (GRCm39)	R101H	probably damaging	Het
Trmt2a	A	G	16: 18,070,048 (GRCm39)	D421G	probably benign	Het
Vmn1r67	A	G	7: 10,181,090 (GRCm39)	D57G	probably benign	Het
Wnt2b	A	G	3: 104,868,661 (GRCm39)	L43P	possibly damaging	Het
Zfp113	C	T	5: 138,148,977 (GRCm39)	D56N	probably damaging	Het
Zfp184	C	T	13: 22,134,406 (GRCm39)	L69F	probably damaging	Het
Zyx	T	C	6: 42,333,466 (GRCm39)	V464A	probably damaging	Het

Other mutations in Syt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01793:Syt1	APN	10	108,419,836 (GRCm39)	missense	possibly damaging	0.49
R1067:Syt1	UTSW	10	108,472,523 (GRCm39)	missense	probably benign
R1300:Syt1	UTSW	10	108,467,682 (GRCm39)	missense	possibly damaging	0.95
R1370:Syt1	UTSW	10	108,526,783 (GRCm39)	missense	probably damaging	0.98
R1575:Syt1	UTSW	10	108,340,361 (GRCm39)	missense	probably benign	0.04
R1656:Syt1	UTSW	10	108,419,776 (GRCm39)	missense	probably damaging	1.00
R2072:Syt1	UTSW	10	108,419,833 (GRCm39)	missense	probably damaging	1.00
R2212:Syt1	UTSW	10	108,340,275 (GRCm39)	missense	possibly damaging	0.89
R2429:Syt1	UTSW	10	108,526,781 (GRCm39)	missense	possibly damaging	0.86
R4928:Syt1	UTSW	10	108,340,373 (GRCm39)	missense	possibly damaging	0.95
R6161:Syt1	UTSW	10	108,467,668 (GRCm39)	missense	probably damaging	1.00
R6193:Syt1	UTSW	10	108,336,597 (GRCm39)	missense	probably benign	0.38
R7033:Syt1	UTSW	10	108,526,797 (GRCm39)	missense	probably benign
R7535:Syt1	UTSW	10	108,463,283 (GRCm39)	critical splice acceptor site	probably null
R7574:Syt1	UTSW	10	108,340,262 (GRCm39)	missense	probably damaging	1.00
R7913:Syt1	UTSW	10	108,478,109 (GRCm39)	missense	probably benign	0.00
R8003:Syt1	UTSW	10	108,472,434 (GRCm39)	missense	probably damaging	1.00
R8829:Syt1	UTSW	10	108,478,193 (GRCm39)	missense	probably benign	0.07
R9114:Syt1	UTSW	10	108,340,376 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTCCACTACACTTTGGGAGAC -3'
(R):5'- ACTGGTCCACTGCTGATGTTC -3'

Sequencing Primer
(F):5'- TCATACCTGAAGGGACCGC -3'
(R):5'- GTCCACTGCTGATGTTCCGTTTC -3'

Posted On

2016-07-22