Mutagenetix > Incidental Mutation

Incidental Mutation 'R4012:Syt6'

311731

Institutional Source

Beutler Lab

Gene Symbol

Syt6

Ensembl Gene

ENSMUSG00000027849

Gene Name

synaptotagmin VI

Synonyms

3110037A08Rik

MMRRC Submission

040949-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.125) question?

Stock #

R4012 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103575231-103645569 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 103625493 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000119688 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090697] [ENSMUST00000117221] [ENSMUST00000118117] [ENSMUST00000118563] [ENSMUST00000121834] [ENSMUST00000132325] [ENSMUST00000136049] [ENSMUST00000151985]

AlphaFold

Q9R0N8

Predicted Effect

probably benign
Transcript: ENSMUST00000090697

SMART Domains

Protein: ENSMUSP00000088196
Gene: ENSMUSG00000027849

Domain	Start	End	E-Value	Type
transmembrane domain	59	81	N/A	INTRINSIC
low complexity region	93	103	N/A	INTRINSIC
C2	246	350	2.65e-20	SMART
C2	378	492	2.25e-23	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000117221

SMART Domains

Protein: ENSMUSP00000113373
Gene: ENSMUSG00000027849

Domain	Start	End	E-Value	Type
low complexity region	8	18	N/A	INTRINSIC
C2	161	265	2.65e-20	SMART
C2	293	407	2.25e-23	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000118117

SMART Domains

Protein: ENSMUSP00000112486
Gene: ENSMUSG00000027849

Domain	Start	End	E-Value	Type
low complexity region	8	18	N/A	INTRINSIC
C2	161	265	2.65e-20	SMART
C2	293	407	2.25e-23	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000118563

SMART Domains

Protein: ENSMUSP00000113287
Gene: ENSMUSG00000027849

Domain	Start	End	E-Value	Type
low complexity region	8	18	N/A	INTRINSIC
C2	161	265	2.65e-20	SMART
Pfam:C2	294	332	3.5e-2	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000121834

SMART Domains

Protein: ENSMUSP00000112997
Gene: ENSMUSG00000027849

Domain	Start	End	E-Value	Type
transmembrane domain	59	81	N/A	INTRINSIC
low complexity region	93	103	N/A	INTRINSIC
C2	246	350	2.65e-20	SMART
C2	378	492	2.25e-23	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000132325

SMART Domains

Protein: ENSMUSP00000116324
Gene: ENSMUSG00000027849

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000136049

SMART Domains

Protein: ENSMUSP00000118124
Gene: ENSMUSG00000027849

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000151985

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.0%

Validation Efficiency

100% (79/79)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the synaptotagmin family. Synaptotagmins share a common domain structure that includes a transmembrane domain and a cytoplasmic region composed of 2 C2 domains, and are involved in calcium-dependent exocytosis of synaptic vesicles. This protein has been shown to be a key component of the secretory machinery involved in acrosomal exocytosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2011]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adnp2	G	T	18: 80,130,821 (GRCm38)	F124L	probably benign	Het
Aicda	A	G	6: 122,559,490 (GRCm38)	K10E	probably benign	Het
Als2	A	G	1: 59,187,416 (GRCm38)	C910R	probably benign	Het
Ankrd11	T	A	8: 122,892,417 (GRCm38)	K1565N	probably damaging	Het
Apol7b	T	C	15: 77,424,709 (GRCm38)	D63G	probably damaging	Het
Arhgef4	T	C	1: 34,725,106 (GRCm38)	C1148R	possibly damaging	Het
Atg16l1	A	G	1: 87,766,907 (GRCm38)	D102G	probably damaging	Het
Babam2	T	C	5: 32,001,438 (GRCm38)	V244A	probably damaging	Het
Brd10	T	G	19: 29,743,590 (GRCm38)	K622N	probably damaging	Het
Cars1	G	A	7: 143,559,674 (GRCm38)	A668V	possibly damaging	Het
Ccdc168	T	C	1: 44,060,969 (GRCm38)	D323G	possibly damaging	Het
Ccdc185	T	A	1: 182,748,888 (GRCm38)	S79C	possibly damaging	Het
Ccdc88b	G	C	19: 6,848,991 (GRCm38)	R1119G	probably damaging	Het
Cebpz	A	T	17: 78,924,467 (GRCm38)	V810E	probably damaging	Het
Cep120	T	C	18: 53,738,582 (GRCm38)	T73A	probably damaging	Het
Chat	C	A	14: 32,423,312 (GRCm38)	C380F	possibly damaging	Het
Cltc	T	C	11: 86,757,261 (GRCm38)	Q10R	probably benign	Het
Cripto	C	T	9: 110,940,713 (GRCm38)	M169I	probably benign	Het
Cst8	T	C	2: 148,804,702 (GRCm38)		probably benign	Het
Cts3	C	T	13: 61,568,054 (GRCm38)		probably null	Het
Cyp4a29	T	A	4: 115,248,510 (GRCm38)	D136E	probably benign	Het
Dmxl2	A	C	9: 54,379,013 (GRCm38)		probably null	Het
Dsg4	T	A	18: 20,451,862 (GRCm38)	V211E	possibly damaging	Het
Efcab5	C	T	11: 77,117,830 (GRCm38)	V957I	probably damaging	Het
Eif4g2	A	T	7: 111,074,151 (GRCm38)	L807Q	possibly damaging	Het
Epha4	A	G	1: 77,390,094 (GRCm38)		probably benign	Het
Epm2aip1	A	T	9: 111,272,390 (GRCm38)	I144F	probably benign	Het
Erbb4	C	T	1: 68,560,576 (GRCm38)	R114H	probably damaging	Het
Fabp3	C	T	4: 130,312,387 (GRCm38)	T57I	probably benign	Het
Fam170a	C	T	18: 50,281,971 (GRCm38)	A228V	probably damaging	Het
Foxred1	A	T	9: 35,206,275 (GRCm38)	M254K	possibly damaging	Het
Gm1527	T	A	3: 28,898,820 (GRCm38)	C90S	probably benign	Het
Gpr137b	T	C	13: 13,359,362 (GRCm38)	T370A	probably benign	Het
Gtf2e2	A	G	8: 33,755,965 (GRCm38)		probably benign	Het
Hgsnat	A	T	8: 25,955,789 (GRCm38)	L359*	probably null	Het
Hhip	A	T	8: 79,992,594 (GRCm38)	C435S	probably damaging	Het
Hoxa13	T	C	6: 52,259,127 (GRCm38)	D310G	possibly damaging	Het
Hspa14	T	C	2: 3,512,638 (GRCm38)	Y18C	probably damaging	Het
Ighg1	A	G	12: 113,329,650 (GRCm38)	V140A	probably damaging	Het
Ighv1-58	A	T	12: 115,312,310 (GRCm38)	Y69*	probably null	Het
Inpp5j	A	G	11: 3,500,185 (GRCm38)	F615L	probably benign	Het
Kcna1	T	A	6: 126,642,910 (GRCm38)	Y149F	probably benign	Het
Kcnj6	A	T	16: 94,825,018 (GRCm38)		probably null	Het
Krtap4-1	G	T	11: 99,627,811 (GRCm38)	C124*	probably null	Het
Lama1	T	A	17: 67,812,373 (GRCm38)	L2615*	probably null	Het
Lcp2	A	T	11: 34,068,439 (GRCm38)	I72F	probably damaging	Het
Med1	T	A	11: 98,171,706 (GRCm38)	I189F	possibly damaging	Het
Meioc	C	T	11: 102,675,828 (GRCm38)	R757C	probably damaging	Het
Mtr	T	A	13: 12,189,397 (GRCm38)	H1171L	probably damaging	Het
Mtr	G	C	13: 12,189,398 (GRCm38)	H1171D	probably damaging	Het
Naa12	A	G	18: 80,212,124 (GRCm38)	D211G	probably benign	Het
Nlrc5	A	G	8: 94,475,992 (GRCm38)	Y240C	possibly damaging	Het
Nsun4	T	A	4: 116,051,062 (GRCm38)	H767L	possibly damaging	Het
Pcdha1	T	A	18: 36,931,136 (GRCm38)	N284K	probably benign	Het
Pcdhgb8	A	C	18: 37,763,361 (GRCm38)	S495R	probably benign	Het
Pramel1	T	A	4: 143,396,690 (GRCm38)	I79N	possibly damaging	Het
Prdm6	A	T	18: 53,540,318 (GRCm38)	E183D	possibly damaging	Het
Prex2	T	C	1: 11,184,516 (GRCm38)	F1125L	probably benign	Het
Prkg2	T	C	5: 98,979,815 (GRCm38)	I346V	possibly damaging	Het
Ptprz1	A	G	6: 23,002,585 (GRCm38)	D1558G	probably damaging	Het
Pttg1ip2	A	C	5: 5,478,955 (GRCm38)	L20R	probably damaging	Het
Qng1	T	A	13: 58,381,986 (GRCm38)	K271*	probably null	Het
Rab11fip3	GCTCGTCT	GCT	17: 26,068,028 (GRCm38)		probably null	Het
Rin2	C	T	2: 145,860,446 (GRCm38)	T354I	probably benign	Het
S100a6	A	G	3: 90,614,201 (GRCm38)	D50G	probably damaging	Het
Shroom3	T	A	5: 92,948,483 (GRCm38)		probably benign	Het
Sipa1l1	G	A	12: 82,341,782 (GRCm38)	V261M	possibly damaging	Het
Slc5a4b	T	A	10: 76,074,992 (GRCm38)	I337F	probably damaging	Het
Smarcc1	A	G	9: 110,132,205 (GRCm38)	Y30C	possibly damaging	Het
Swap70	A	G	7: 110,281,305 (GRCm38)	K576E	possibly damaging	Het
Szt2	T	C	4: 118,383,900 (GRCm38)	I1726V	probably benign	Het
Thoc1	A	G	18: 9,987,651 (GRCm38)	K453E	possibly damaging	Het
Tmem38b	A	G	4: 53,854,409 (GRCm38)	I214V	probably benign	Het
Tonsl	A	T	15: 76,637,044 (GRCm38)	I354N	probably damaging	Het
Trappc9	T	C	15: 73,031,623 (GRCm38)	I303V	possibly damaging	Het
Trim66	A	G	7: 109,458,131 (GRCm38)	S1032P	probably damaging	Het
Tsc22d4	T	C	5: 137,758,328 (GRCm38)	V6A	probably benign	Het
Ubtd2	A	G	11: 32,499,260 (GRCm38)	K36E	probably benign	Het
Zkscan2	T	C	7: 123,498,660 (GRCm38)	E171G	possibly damaging	Het

Other mutations in Syt6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00838:Syt6	APN	3	103,625,626 (GRCm38)	missense	probably damaging	0.98
IGL02944:Syt6	APN	3	103,575,549 (GRCm38)	unclassified	probably benign
IGL03168:Syt6	APN	3	103,587,627 (GRCm38)	missense	probably damaging	1.00
PIT4305001:Syt6	UTSW	3	103,575,453 (GRCm38)	missense	possibly damaging	0.91
R0124:Syt6	UTSW	3	103,587,526 (GRCm38)	missense	probably damaging	1.00
R0587:Syt6	UTSW	3	103,625,571 (GRCm38)	missense	probably damaging	0.99
R0601:Syt6	UTSW	3	103,620,890 (GRCm38)	missense	probably damaging	1.00
R1262:Syt6	UTSW	3	103,585,340 (GRCm38)	critical splice acceptor site	probably null
R1970:Syt6	UTSW	3	103,587,420 (GRCm38)	missense	probably benign	0.21
R4450:Syt6	UTSW	3	103,585,645 (GRCm38)	missense	probably benign	0.01
R4493:Syt6	UTSW	3	103,585,630 (GRCm38)	missense	probably damaging	0.99
R4494:Syt6	UTSW	3	103,585,630 (GRCm38)	missense	probably damaging	0.99
R4495:Syt6	UTSW	3	103,587,560 (GRCm38)	nonsense	probably null
R4740:Syt6	UTSW	3	103,625,656 (GRCm38)	missense	probably damaging	1.00
R4750:Syt6	UTSW	3	103,630,917 (GRCm38)	makesense	probably null
R5668:Syt6	UTSW	3	103,620,901 (GRCm38)	missense	probably damaging	1.00
R6185:Syt6	UTSW	3	103,585,528 (GRCm38)	missense	probably damaging	1.00
R6660:Syt6	UTSW	3	103,625,644 (GRCm38)	missense	probably damaging	1.00
R7120:Syt6	UTSW	3	103,587,357 (GRCm38)	missense	probably damaging	1.00
R7307:Syt6	UTSW	3	103,587,472 (GRCm38)	missense	probably damaging	1.00
R7501:Syt6	UTSW	3	103,587,702 (GRCm38)	missense	probably benign	0.01
R8768:Syt6	UTSW	3	103,585,534 (GRCm38)	missense	probably benign
R8867:Syt6	UTSW	3	103,627,055 (GRCm38)	missense	possibly damaging	0.91
R8885:Syt6	UTSW	3	103,625,625 (GRCm38)	missense	probably benign	0.06
R9068:Syt6	UTSW	3	103,587,509 (GRCm38)	nonsense	probably null
R9098:Syt6	UTSW	3	103,585,579 (GRCm38)	missense	probably damaging	0.96
R9361:Syt6	UTSW	3	103,575,363 (GRCm38)	unclassified	probably benign
Z1177:Syt6	UTSW	3	103,645,115 (GRCm38)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AAGGACTCCGACTCTCTGTG -3'
(R):5'- GACAGGCACCTACCTATCATAGTCC -3'

Sequencing Primer
(F):5'- CGACTCTCTGTGGCAAATGC -3'
(R):5'- CCATAACGGAGATGAGCAGGCTC -3'

Posted On

2015-04-29