Mutagenetix > Incidental Mutation

Incidental Mutation 'R2212:Syt1'

239461

Institutional Source

Beutler Lab

Gene Symbol

Syt1

Ensembl Gene

ENSMUSG00000035864

Gene Name

synaptotagmin I

Synonyms

G630098F17Rik

MMRRC Submission

040214-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2212 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

108333511-108846843 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 108340275 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 348 (P348T)

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: P348T

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000063293
Gene: ENSMUSG00000035864
AA Change: P348T

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: P348T

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000100912
Gene: ENSMUSG00000035864
AA Change: P348T

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

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.9%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700062C07Rik	A	G	18: 24,603,977 (GRCm39)	Y6C	probably damaging	Het
3425401B19Rik	T	A	14: 32,383,559 (GRCm39)	Q802L	probably benign	Het
Adarb2	T	C	13: 8,802,654 (GRCm39)	F643S	probably damaging	Het
Angptl4	A	G	17: 33,994,392 (GRCm39)	I401T	probably damaging	Het
Ap2a2	T	A	7: 141,178,689 (GRCm39)	N105K	probably benign	Het
Atp8b4	C	A	2: 126,217,677 (GRCm39)	W613L	probably damaging	Het
Cibar1	A	G	4: 12,171,696 (GRCm39)		probably null	Het
Coq10a	A	G	10: 128,200,998 (GRCm39)	V93A	possibly damaging	Het
Cyp4f39	A	T	17: 32,706,037 (GRCm39)	E376V	possibly damaging	Het
Deup1	A	T	9: 15,511,139 (GRCm39)	D213E	probably benign	Het
Ehmt2	A	G	17: 35,118,341 (GRCm39)	S39G	probably benign	Het
Eya1	T	A	1: 14,344,433 (GRCm39)		probably null	Het
Fcna	G	C	2: 25,517,505 (GRCm39)	P49A	probably damaging	Het
Flnb	AAGGAG	AAG	14: 7,881,652 (GRCm38)		probably benign	Het
Fscn2	G	T	11: 120,252,417 (GRCm39)		probably benign	Het
Gckr	T	A	5: 31,458,211 (GRCm39)		probably null	Het
Golgb1	A	G	16: 36,707,709 (GRCm39)	K68E	probably damaging	Het
H2-M11	G	A	17: 36,859,822 (GRCm39)	V272M	probably damaging	Het
Hace1	T	A	10: 45,524,771 (GRCm39)	D234E	possibly damaging	Het
Il18r1	A	T	1: 40,530,227 (GRCm39)	D318V	probably damaging	Het
Il4i1	T	C	7: 44,486,082 (GRCm39)	L22P	probably damaging	Het
Kcnq3	A	T	15: 65,892,142 (GRCm39)	F411Y	probably benign	Het
Kcnt2	A	G	1: 140,458,538 (GRCm39)	Y775C	probably damaging	Het
Krt84	A	C	15: 101,440,973 (GRCm39)	V73G	probably benign	Het
Lcp2	A	C	11: 34,020,995 (GRCm39)	D117A	probably benign	Het
Lemd1	C	A	1: 132,156,024 (GRCm39)	T22K	probably benign	Het
Mdm4	T	C	1: 132,922,260 (GRCm39)	D294G	probably damaging	Het
Mep1a	G	A	17: 43,788,154 (GRCm39)	A634V	probably benign	Het
Myh15	A	G	16: 48,959,095 (GRCm39)	D989G	probably benign	Het
Myo1g	G	T	11: 6,467,870 (GRCm39)	H188Q	possibly damaging	Het
Nsmaf	C	A	4: 6,396,732 (GRCm39)	L918F	probably damaging	Het
Or10d4	T	A	9: 39,580,524 (GRCm39)	M57K	probably damaging	Het
Or2v2	C	T	11: 49,004,043 (GRCm39)	C170Y	probably damaging	Het
Or51f5	T	C	7: 102,423,962 (GRCm39)	L77P	possibly damaging	Het
Or51q1	T	C	7: 103,628,609 (GRCm39)	L76P	probably damaging	Het
Pfkfb2	A	T	1: 130,635,269 (GRCm39)	N97K	probably damaging	Het
Phlda1	A	T	10: 111,343,029 (GRCm39)	E255V	probably damaging	Het
Pla2g4f	T	C	2: 120,133,587 (GRCm39)	S579G	probably benign	Het
Plcz1	C	T	6: 139,947,807 (GRCm39)	R525Q	probably damaging	Het
Ppargc1b	G	A	18: 61,444,291 (GRCm39)	Q291*	probably null	Het
Ppef2	T	G	5: 92,376,581 (GRCm39)	S649R	probably damaging	Het
Ppp1r3b	A	G	8: 35,851,379 (GRCm39)	T73A	possibly damaging	Het
Prss43	G	C	9: 110,658,532 (GRCm39)	Q277H	probably damaging	Het
Rusc2	T	G	4: 43,415,935 (GRCm39)	S414A	probably damaging	Het
Serpina3j	G	A	12: 104,280,985 (GRCm39)	D53N	probably damaging	Het
Sez6l	A	G	5: 112,623,227 (GRCm39)	L108P	possibly damaging	Het
Slc1a7	A	G	4: 107,868,191 (GRCm39)	E497G	probably benign	Het
Spag8	T	A	4: 43,651,606 (GRCm39)	S423C	probably damaging	Het
Spata13	A	G	14: 60,944,172 (GRCm39)	T522A	probably benign	Het
Spryd3	A	G	15: 102,038,711 (GRCm39)		probably null	Het
Sry	T	A	Y: 2,663,339 (GRCm39)	N107I	probably damaging	Het
St6galnac1	A	G	11: 116,656,682 (GRCm39)	W486R	probably damaging	Het
Taok2	T	C	7: 126,470,030 (GRCm39)	I933V	possibly damaging	Het
Tex9	C	A	9: 72,385,040 (GRCm39)	Q265H	possibly damaging	Het
Tmem63a	G	A	1: 180,790,679 (GRCm39)	D446N	possibly damaging	Het
Trim59	T	C	3: 68,944,876 (GRCm39)	T155A	probably benign	Het
Trim69	T	C	2: 122,009,125 (GRCm39)	V395A	probably benign	Het
Tusc1	C	A	4: 93,223,173 (GRCm39)	R162L	probably damaging	Het
Ubash3a	A	T	17: 31,437,008 (GRCm39)	Q208H	probably damaging	Het
Ubn2	A	G	6: 38,475,674 (GRCm39)	T1211A	probably benign	Het
Vmn2r110	A	T	17: 20,794,209 (GRCm39)		probably null	Het
Vrk3	C	T	7: 44,424,866 (GRCm39)	T427M	probably benign	Het
Zfyve28	C	T	5: 34,357,028 (GRCm39)	M723I	probably benign	Het
Zmynd8	A	T	2: 165,657,371 (GRCm39)	M533K	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
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
R5216:Syt1	UTSW	10	108,478,118 (GRCm39)	missense	probably benign	0.00
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'- AGAAGTCAGCTGGCTGTTCC -3'
(R):5'- TTCAGAGAAGATAAAACACGCGTC -3'

Sequencing Primer
(F):5'- CTGTTCCAGCTGATGAATCGG -3'
(R):5'- ACGCGTCTGAGCTCCTAAAGTC -3'

Posted On

2014-10-15