Mutagenetix > Incidental Mutation

Incidental Mutation 'R4495:Syt6'

330922

Institutional Source

Beutler Lab

Gene Symbol

Syt6

Ensembl Gene

ENSMUSG00000027849

Gene Name

synaptotagmin VI

Synonyms

3110037A08Rik

MMRRC Submission

041583-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.174) question?

Stock #

R4495 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103575231-103645569 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 103587560 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 280 (C280*)

Ref Sequence

ENSEMBL: ENSMUSP00000112997 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090697] [ENSMUST00000117221] [ENSMUST00000118117] [ENSMUST00000118563] [ENSMUST00000121834] [ENSMUST00000132325] [ENSMUST00000136049] [ENSMUST00000151985] [ENSMUST00000183637]

AlphaFold

Q9R0N8

Predicted Effect

probably null
Transcript: ENSMUST00000090697
AA Change: C280*

SMART Domains

Protein: ENSMUSP00000088196
Gene: ENSMUSG00000027849
AA Change: C280*

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 null
Transcript: ENSMUST00000117221
AA Change: C195*

SMART Domains

Protein: ENSMUSP00000113373
Gene: ENSMUSG00000027849
AA Change: C195*

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 null
Transcript: ENSMUST00000118117
AA Change: C195*

SMART Domains

Protein: ENSMUSP00000112486
Gene: ENSMUSG00000027849
AA Change: C195*

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 null
Transcript: ENSMUST00000118563
AA Change: C195*

SMART Domains

Protein: ENSMUSP00000113287
Gene: ENSMUSG00000027849
AA Change: C195*

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 null
Transcript: ENSMUST00000121834
AA Change: C280*

SMART Domains

Protein: ENSMUSP00000112997
Gene: ENSMUSG00000027849
AA Change: C280*

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

Predicted Effect

probably benign
Transcript: ENSMUST00000183637

SMART Domains

Protein: ENSMUSP00000138874
Gene: ENSMUSG00000027849

Domain	Start	End	E-Value	Type
low complexity region	8	18	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Calcr	A	T	6: 3,708,484		probably null	Het
Cdh4	T	C	2: 179,780,389	V102A	probably damaging	Het
Cmya5	T	C	13: 93,094,065	E1505G	probably benign	Het
Cyp2b9	T	A	7: 26,200,755	D329E	probably benign	Het
Ddx47	T	C	6: 135,021,466	F375S	possibly damaging	Het
Dnah7b	T	G	1: 46,085,632	S154A	probably benign	Het
Fry	G	T	5: 150,310,463	E133D	probably damaging	Het
Hydin	T	C	8: 110,595,402	L4562P	probably damaging	Het
Ifnlr1	A	T	4: 135,705,768	E505V	probably damaging	Het
Igfn1	T	C	1: 135,969,678	E1050G	possibly damaging	Het
Kidins220	T	A	12: 25,038,302		probably null	Het
Klra10	T	G	6: 130,279,348	E114D	probably benign	Het
Lyst	G	A	13: 13,635,383	R546H	probably damaging	Het
Mrc2	G	A	11: 105,348,431		probably null	Het
Mrgpra3	T	C	7: 47,590,065	I38V	probably benign	Het
Nfkb2	A	G	19: 46,308,439	D316G	probably damaging	Het
Nrxn2	A	T	19: 6,531,399	T412S	probably benign	Het
Olfr1281	T	A	2: 111,329,020	N200K	probably benign	Het
Palm3	C	T	8: 84,026,866	R97C	probably damaging	Het
Pdcd11	T	C	19: 47,111,006	V848A	probably benign	Het
Prdx1	T	C	4: 116,699,219	V188A	probably benign	Het
Prep	T	C	10: 45,120,819	F398L	probably benign	Het
Prlhr	A	T	19: 60,467,081	M349K	probably benign	Het
Rwdd2b	T	C	16: 87,434,562	T235A	probably benign	Het
Scn1a	T	C	2: 66,280,802		probably null	Het
Sidt1	C	T	16: 44,282,478	V295M	probably damaging	Het
Sla	T	C	15: 66,801,512	T10A	probably benign	Het
Slc22a20	A	G	19: 5,984,924	S170P	probably benign	Het
Thbs2	A	G	17: 14,671,413	I954T	probably damaging	Het
Tmprss11b	T	A	5: 86,665,063	K125*	probably null	Het
Ugt1a6a	T	A	1: 88,139,183	L237H	probably damaging	Het
Vmn2r68	TCC	TC	7: 85,221,550		probably null	Het
Wdr53	A	G	16: 32,252,151	T105A	probably benign	Het
Xkrx	T	C	X: 134,150,996	N302S	possibly damaging	Het
Zfp704	T	A	3: 9,471,077	S128C	probably benign	Het
Zfp759	A	G	13: 67,138,925		probably null	Het
Zfyve16	A	T	13: 92,488,567	D1494E	probably benign	Het

Other mutations in Syt6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00838:Syt6	APN	3	103625626	missense	probably damaging	0.98
IGL02944:Syt6	APN	3	103575549	unclassified	probably benign
IGL03168:Syt6	APN	3	103587627	missense	probably damaging	1.00
PIT4305001:Syt6	UTSW	3	103575453	missense	possibly damaging	0.91
R0124:Syt6	UTSW	3	103587526	missense	probably damaging	1.00
R0587:Syt6	UTSW	3	103625571	missense	probably damaging	0.99
R0601:Syt6	UTSW	3	103620890	missense	probably damaging	1.00
R1262:Syt6	UTSW	3	103585340	critical splice acceptor site	probably null
R1970:Syt6	UTSW	3	103587420	missense	probably benign	0.21
R4012:Syt6	UTSW	3	103625493	splice site	probably benign
R4450:Syt6	UTSW	3	103585645	missense	probably benign	0.01
R4493:Syt6	UTSW	3	103585630	missense	probably damaging	0.99
R4494:Syt6	UTSW	3	103585630	missense	probably damaging	0.99
R4740:Syt6	UTSW	3	103625656	missense	probably damaging	1.00
R4750:Syt6	UTSW	3	103630917	makesense	probably null
R5668:Syt6	UTSW	3	103620901	missense	probably damaging	1.00
R6185:Syt6	UTSW	3	103585528	missense	probably damaging	1.00
R6660:Syt6	UTSW	3	103625644	missense	probably damaging	1.00
R7120:Syt6	UTSW	3	103587357	missense	probably damaging	1.00
R7307:Syt6	UTSW	3	103587472	missense	probably damaging	1.00
R7501:Syt6	UTSW	3	103587702	missense	probably benign	0.01
R8768:Syt6	UTSW	3	103585534	missense	probably benign
R8867:Syt6	UTSW	3	103627055	missense	possibly damaging	0.91
R8885:Syt6	UTSW	3	103625625	missense	probably benign	0.06
R9068:Syt6	UTSW	3	103587509	nonsense	probably null
R9098:Syt6	UTSW	3	103585579	missense	probably damaging	0.96
R9361:Syt6	UTSW	3	103575363	unclassified	probably benign
Z1177:Syt6	UTSW	3	103645115	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TATTGGCCGTATCAAGCCTGAG -3'
(R):5'- GAGATTGTCCAGGATGACCTC -3'

Sequencing Primer
(F):5'- CTTTACAAGCAGAAGTCAGTGG -3'
(R):5'- TCCCCAATCATGTCATGGCGG -3'

Posted On

2015-07-21