Mutagenetix > Incidental Mutations

Incidental Mutation 'R1370:Syt1'

155957

Institutional Source

Beutler Lab

Gene Symbol

Syt1

Ensembl Gene

ENSMUSG00000035864

Gene Name

synaptotagmin I

Synonyms

MMRRC Submission

039434-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1370 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108497650-109010982 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108690922 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 42 (L42P)

Ref Sequence

ENSEMBL: ENSMUSP00000100912 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000064054
AA Change: L42P

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000063293
Gene: ENSMUSG00000035864
AA Change: L42P

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 damaging
Transcript: ENSMUST00000105276
AA Change: L42P

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000100912
Gene: ENSMUSG00000035864
AA Change: L42P

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

Meta Mutation Damage Score

0.5413

Coding Region Coverage

1x: 98.7%
3x: 97.5%
10x: 93.6%
20x: 84.8%

Validation Efficiency

99% (80/81)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb10	C	T	8: 123,962,052	G495D	probably damaging	Het
Adgra3	T	C	5: 49,960,787	I1140V	possibly damaging	Het
Adrb3	A	T	8: 27,227,770		probably null	Het
Afap1	A	G	5: 35,935,600	D16G	unknown	Het
AI593442	T	C	9: 52,678,008	K90E	probably damaging	Het
Aicda	A	T	6: 122,561,185	N101Y	probably benign	Het
Alx1	A	G	10: 103,028,492	S39P	possibly damaging	Het
Ankrd52	A	G	10: 128,388,696	D781G	possibly damaging	Het
Arhgef5	T	A	6: 43,283,912	F1424I	probably damaging	Het
Atp10b	G	A	11: 43,151,655	W14*	probably null	Het
Bin1	A	G	18: 32,429,703	I416V	probably benign	Het
Bptf	A	T	11: 107,047,094	S2724T	probably damaging	Het
Brf1	A	T	12: 112,961,108		probably null	Het
Ccdc39	T	C	3: 33,826,480	K446R	probably damaging	Het
Cd226	T	A	18: 89,247,023	S29T	probably benign	Het
Cdan1	A	G	2: 120,719,139		probably null	Het
Chaf1a	A	T	17: 56,064,032	H639L	probably benign	Het
Chd1	G	A	17: 17,387,480	G430D	probably benign	Het
Clca3a2	T	C	3: 144,813,863		probably benign	Het
Clptm1	A	G	7: 19,633,872	V605A	possibly damaging	Het
Cmpk2	A	G	12: 26,471,452	D241G	probably damaging	Het
Cryzl1	A	G	16: 91,692,658	V266A	possibly damaging	Het
Cyp2c68	A	G	19: 39,740,956	L29P	probably damaging	Het
Dennd3	A	C	15: 73,540,854		probably benign	Het
Dennd4c	T	A	4: 86,811,510	I783N	probably damaging	Het
Dock10	A	G	1: 80,540,343	S1305P	probably damaging	Het
Eml6	T	G	11: 29,833,085	S599R	probably benign	Het
Gbp8	C	T	5: 105,016,576	A394T	possibly damaging	Het
Gm13023	T	A	4: 143,795,304	L497I	possibly damaging	Het
H1fx	A	G	6: 87,981,151	I69T	probably damaging	Het
Herc2	T	A	7: 56,168,873	C2771S	probably benign	Het
Ism1	A	T	2: 139,732,074	I115F	possibly damaging	Het
Itga10	C	T	3: 96,651,738		probably benign	Het
Itgb8	C	T	12: 119,171,003	G443E	probably benign	Het
Kalrn	T	A	16: 33,975,584	I1274F	possibly damaging	Het
Klk11	A	G	7: 43,776,907	I22V	probably benign	Het
Krt6b	T	C	15: 101,677,552	D362G	probably damaging	Het
Lce1e	A	G	3: 92,707,843	S66P	unknown	Het
Letm1	A	T	5: 33,778,682		probably null	Het
Lrrcc1	G	T	3: 14,548,114	V299L	probably benign	Het
Mettl5	A	T	2: 69,881,420		probably null	Het
Mrpl12	A	G	11: 120,485,301	S46G	probably benign	Het
Narfl	A	G	17: 25,776,988	E62G	probably benign	Het
Ndrg3	T	C	2: 156,938,650	E198G	probably damaging	Het
Olfr198	A	G	16: 59,201,680	S249P	probably damaging	Het
Pcdh20	A	G	14: 88,468,301	I521T	probably benign	Het
Pdzph1	T	C	17: 58,974,087	D400G	possibly damaging	Het
Per2	A	T	1: 91,445,557	S170T	possibly damaging	Het
Pros1	A	G	16: 62,919,558	K457E	probably benign	Het
Rer1	T	A	4: 155,075,624	M156L	probably benign	Het
Rerg	A	T	6: 137,057,801		probably benign	Het
Sel1l3	G	T	5: 53,200,217	H144Q	possibly damaging	Het
Sept2	G	T	1: 93,499,106	V146L	probably damaging	Het
Setd1b	C	T	5: 123,160,685		probably benign	Het
Sh3bp4	A	T	1: 89,143,772	Y114F	probably benign	Het
Slc44a5	C	A	3: 154,243,159	T188K	probably benign	Het
Slco6d1	A	C	1: 98,423,094	I100L	probably benign	Het
Slfn4	G	T	11: 83,188,806	D441Y	probably damaging	Het
Smg1	T	C	7: 118,159,752		probably benign	Het
Snrpb2	A	G	2: 143,065,166		probably benign	Het
Sspo	T	A	6: 48,448,626	S60R	probably benign	Het
Stard9	T	C	2: 120,697,477	V1405A	probably benign	Het
Tarbp1	T	C	8: 126,448,330	D789G	probably benign	Het
Tbcel	A	T	9: 42,450,062	D63E	probably damaging	Het
Tdrd3	A	T	14: 87,458,054		probably benign	Het
Tiam1	A	T	16: 89,898,221	I116N	probably benign	Het
Tsc22d1	A	G	14: 76,437,664		probably benign	Het
Tsga10	G	T	1: 37,835,453	T117K	probably damaging	Het
Ttc3	A	G	16: 94,418,637	S492G	possibly damaging	Het
Ttn	G	T	2: 76,847,151		probably benign	Het
Wasf3	T	C	5: 146,470,208		probably benign	Het
Zbtb37	C	T	1: 161,032,022	E238K	probably benign	Het
Zfp354c	A	G	11: 50,815,840	I136T	probably benign	Het
Zfp384	G	A	6: 125,036,453	A479T	probably benign	Het
Zfp646	T	A	7: 127,879,864	N404K	probably 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
R1575:Syt1	UTSW	10	108504500	missense	probably benign	0.04
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

Predicted Primers

PCR Primer
(F):5'- TGGGAAGGTATCAGCCCATGTAGTC -3'
(R):5'- AATGACAGCCTGCTTACCCTGTG -3'

Sequencing Primer
(F):5'- GGCACTACTGTTATCAGAGAAAC -3'
(R):5'- CTTACACCTGTAAGATGGGGTCAG -3'

Posted On

2014-02-11