Mutagenetix > Incidental Mutations

Incidental Mutation 'R8829:Syt1'

673699

Institutional Source

Beutler Lab

Gene Symbol

Syt1

Ensembl Gene

ENSMUSG00000035864

Gene Name

synaptotagmin I

Synonyms

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R8829 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

108497650-109010982 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 108642332 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 77 (C77F)

Ref Sequence

ENSEMBL: ENSMUSP00000063293 (fasta)

Gene Model

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

AlphaFold

P46096

Predicted Effect

probably benign
Transcript: ENSMUST00000064054
AA Change: C77F

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000063293
Gene: ENSMUSG00000035864
AA Change: C77F

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: C77F

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000100912
Gene: ENSMUSG00000035864
AA Change: C77F

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700125H20Rik	A	G	11: 85,171,211	D12G	probably damaging	Het
2610507B11Rik	A	G	11: 78,267,238	K409E	probably benign	Het
Aadac	A	T	3: 60,031,819	I5F	probably benign	Het
Abca13	A	T	11: 9,621,881	D4814V	probably damaging	Het
Adgrl1	A	G	8: 83,938,829	N1382D		Het
Adh6b	T	C	3: 138,349,702	V71A	probably benign	Het
Aox4	A	T	1: 58,255,490	M953L	probably benign	Het
Bach2	A	T	4: 32,562,028	E165V	probably damaging	Het
Catsperg2	A	G	7: 29,697,844	V1078A	probably benign	Het
Ccno	A	G	13: 112,989,705	N236S	probably benign	Het
Ccpg1	A	T	9: 73,010,351	D255V	probably benign	Het
Cdhr2	A	T	13: 54,718,117	Y278F	probably damaging	Het
Cdk17	C	T	10: 93,207,058		probably benign	Het
Celsr3	A	G	9: 108,840,383	D2216G	probably benign	Het
Cenpu	T	C	8: 46,573,461	L294P	probably damaging	Het
Ctif	CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC	CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC	18: 75,471,803		probably benign	Het
Ctnna2	G	A	6: 77,605,222	R352*	probably null	Het
D5Ertd577e	G	T	5: 95,483,080	C272F	possibly damaging	Het
D630003M21Rik	C	A	2: 158,216,936	C348F	probably damaging	Het
Dcdc2a	C	T	13: 25,110,068	Q236*	probably null	Het
Ddx60	T	G	8: 61,940,661	S44A	probably damaging	Het
Dennd2c	T	A	3: 103,152,404		probably null	Het
Drd5	G	A	5: 38,319,735	V24M	probably benign	Het
Dthd1	T	C	5: 62,814,265	S144P	probably benign	Het
Fam126b	A	T	1: 58,548,673	I127N	possibly damaging	Het
Fcna	C	A	2: 25,626,133	R124L	possibly damaging	Het
Frem1	T	C	4: 83,000,194	R504G	probably damaging	Het
Gldc	C	G	19: 30,100,812	M928I	probably benign	Het
Gm34653	T	A	2: 34,838,622	N144K	probably benign	Het
Gprc6a	A	C	10: 51,615,199	I818R	probably damaging	Het
Hcfc2	T	C	10: 82,738,345	Y118H	probably damaging	Het
Hmmr	G	A	11: 40,721,672	S206F	probably damaging	Het
Htr1d	A	T	4: 136,443,243	H261L	probably benign	Het
Igf1r	T	A	7: 68,226,021	F1244I	probably damaging	Het
Ighv1-63	A	G	12: 115,495,914	V21A	probably benign	Het
Kit	A	G	5: 75,639,131	N508D	probably benign	Het
Klk1b22	A	T	7: 44,114,853	E68D	probably benign	Het
Knstrn	C	T	2: 118,823,741	Q211*	probably null	Het
Krtap2-4	A	T	11: 99,614,420	C122S	unknown	Het
Map3k1	T	G	13: 111,752,481	H1314P	possibly damaging	Het
Mgat4c	A	T	10: 102,378,223	K22N	probably damaging	Het
Mpo	T	A	11: 87,803,424	F660Y	probably damaging	Het
Myb	A	T	10: 21,145,231	L433H	probably damaging	Het
Myo1c	G	A	11: 75,670,246	V793I	probably benign	Het
Nckap1l	T	A	15: 103,478,815	S706T	probably benign	Het
Ncoa3	A	G	2: 166,050,148	Y148C	probably damaging	Het
Nktr	T	A	9: 121,754,264	S1432T	unknown	Het
Odf2l	C	T	3: 145,128,059	S160L	probably benign	Het
Olfr1406	C	T	1: 173,183,891	R181H	probably benign	Het
Olfr688	T	C	7: 105,288,228	L45P	possibly damaging	Het
Olfr930	G	T	9: 38,930,894	C241F	probably damaging	Het
Olfr986	T	A	9: 40,187,913	F266Y	probably benign	Het
Pclo	T	C	5: 14,788,450	W1424R		Het
Pcx	A	G	19: 4,601,940	D72G	probably damaging	Het
Pebp4	A	G	14: 70,048,467	D193G	probably benign	Het
Pi4kb	C	T	3: 94,993,033	T326M	probably damaging	Het
Piezo1	A	C	8: 122,491,014	M1265R		Het
Pip4k2c	A	T	10: 127,201,168	H177Q	probably damaging	Het
Prpf40a	T	C	2: 53,157,915	M197V	probably benign	Het
Ptger3	A	G	3: 157,567,786	T257A	probably damaging	Het
Relt	T	A	7: 100,850,272	S147C	probably damaging	Het
Scap	A	G	9: 110,380,203	Y648C	probably damaging	Het
Scn9a	T	A	2: 66,483,617	D1919V	probably benign	Het
Sept8	G	A	11: 53,532,038	V25I	probably damaging	Het
Serpinb2	A	G	1: 107,515,527	I19V	probably benign	Het
Slc16a6	A	G	11: 109,455,106	Y444H	probably benign	Het
Syne1	T	C	10: 5,108,685	E7276G	probably benign	Het
Tcf20	T	A	15: 82,855,714	K512M	probably damaging	Het
Tomm7	T	C	5: 23,844,049	K9E	possibly damaging	Het
Trank1	T	C	9: 111,347,523	S288P	probably benign	Het
Trem3	T	C	17: 48,249,837	V112A	probably benign	Het
Ttbk1	C	A	17: 46,446,895	G938W	probably damaging	Het
Vmn1r178	G	A	7: 23,893,839	C104Y	probably damaging	Het
Zpr1	T	A	9: 46,281,046	Y418*	probably null	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
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
R9114:Syt1	UTSW	10	108504515	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCCCCAAGTTGTCCATGTC -3'
(R):5'- TACAGATCAGTACCACTGGAGC -3'

Sequencing Primer
(F):5'- AGCCCCAAGTTGTCCATGTCTATAAG -3'
(R):5'- GATCAGTACCACTGGAGCAAAAC -3'

Posted On

2021-07-15