Mutagenetix > Incidental Mutation

Incidental Mutation 'R4494:Syt6'

330874

Institutional Source

Beutler Lab

Gene Symbol

Syt6

Ensembl Gene

ENSMUSG00000027849

Gene Name

synaptotagmin VI

Synonyms

3110037A08Rik

MMRRC Submission

041582-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.109) question?

Stock #

R4494 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103575231-103645569 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103585630 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 66 (E66G)

Ref Sequence

ENSEMBL: ENSMUSP00000138874 (fasta)

Gene Model

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

AlphaFold

Q9R0N8

Predicted Effect

probably benign
Transcript: ENSMUST00000090697
AA Change: E151G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000088196
Gene: ENSMUSG00000027849
AA Change: E151G

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
AA Change: E66G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000113373
Gene: ENSMUSG00000027849
AA Change: E66G

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
AA Change: E66G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000112486
Gene: ENSMUSG00000027849
AA Change: E66G

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
AA Change: E66G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000113287
Gene: ENSMUSG00000027849
AA Change: E66G

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
AA Change: E151G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000112997
Gene: ENSMUSG00000027849
AA Change: E151G

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 damaging
Transcript: ENSMUST00000183637
AA Change: E66G

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000138874
Gene: ENSMUSG00000027849
AA Change: E66G

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

Meta Mutation Damage Score

0.1059

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atf7ip	T	A	6: 136,563,749		probably null	Het
Cacna1b	T	C	2: 24,652,938	T1301A	probably damaging	Het
Calcr	A	T	6: 3,708,484		probably null	Het
Camsap1	T	C	2: 25,952,758	D262G	probably damaging	Het
Ccdc141	A	G	2: 77,132,297	V101A	probably damaging	Het
Ccdc170	T	C	10: 4,514,128	Y36H	probably damaging	Het
Cd177	A	T	7: 24,752,003	S492T	probably benign	Het
Chrna4	T	A	2: 181,028,488	I492F	probably damaging	Het
Cit	T	C	5: 115,873,984	Y217H	probably damaging	Het
Cnbd1	T	A	4: 19,098,150	D90V	probably benign	Het
Cryba2	A	G	1: 74,890,630	F116S	probably damaging	Het
Ctbp1	T	C	5: 33,250,869	T240A	possibly damaging	Het
D130043K22Rik	C	T	13: 24,871,356	S501L	probably benign	Het
Ddhd2	A	G	8: 25,738,234	F553S	probably benign	Het
Ddr2	C	A	1: 169,988,414	G575W	probably damaging	Het
Dip2c	T	C	13: 9,571,062	V537A	possibly damaging	Het
Dnah12	C	T	14: 26,871,855	A752V	probably damaging	Het
Dnah7a	T	C	1: 53,449,038	D3260G	probably benign	Het
Efemp2	T	A	19: 5,480,311	C309S	probably damaging	Het
Fam46a	A	G	9: 85,325,047	S233P	probably damaging	Het
Gse1	G	A	8: 120,570,814		probably benign	Het
Hspa4l	T	C	3: 40,753,204	S53P	possibly damaging	Het
Ighv5-4	T	C	12: 113,597,584	D72G	probably benign	Het
Igkv15-103	A	G	6: 68,437,796	N73S	probably benign	Het
Igsf11	T	G	16: 39,011,341	N183K	possibly damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 52,725,906	74	probably benign	Het
Kcnk18	T	C	19: 59,234,831	V136A	probably damaging	Het
Krt75	A	T	15: 101,571,701	Y240*	probably null	Het
Lyst	G	A	13: 13,635,383	R546H	probably damaging	Het
Man2a2	C	T	7: 80,359,275		probably null	Het
Mme	A	G	3: 63,347,192	N491S	probably benign	Het
Mrc2	G	A	11: 105,348,431		probably null	Het
Msi2	T	C	11: 88,717,359	D39G	possibly damaging	Het
Naa60	T	A	16: 3,900,721	C122*	probably null	Het
Nes	A	G	3: 87,976,813	E793G	probably damaging	Het
Nfkb2	A	G	19: 46,308,439	D316G	probably damaging	Het
Nme6	C	T	9: 109,842,054	L121F	probably damaging	Het
Olfr1297	T	A	2: 111,621,148	K309*	probably null	Het
Otud1	C	T	2: 19,659,335	T425I	probably damaging	Het
Pimreg	T	C	11: 72,045,138	V149A	probably benign	Het
Plbd1	T	C	6: 136,613,858	I437V	probably damaging	Het
Prlhr	A	T	19: 60,467,081	M349K	probably benign	Het
Slc1a3	G	A	15: 8,639,095	T462I	probably damaging	Het
Slc25a26	A	G	6: 94,598,403	T198A	probably damaging	Het
Stkld1	A	G	2: 26,946,626	N268S	probably benign	Het
Svop	T	C	5: 114,045,627	T195A	probably damaging	Het
Tas2r129	A	G	6: 132,951,354	I85V	probably benign	Het
Tprn	T	C	2: 25,268,892	S643P	probably damaging	Het
Ush2a	C	T	1: 188,553,276	T2003I	possibly damaging	Het
Vmn2r17	T	A	5: 109,428,469	V402E	probably damaging	Het
Vmn2r3	C	G	3: 64,275,271	G336R	probably damaging	Het
Wdr89	A	T	12: 75,632,747	D244E	probably damaging	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
R4495:Syt6	UTSW	3	103587560	nonsense	probably null
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'- CCTCGCCGTGGTAGTTATTG -3'
(R):5'- TTAGTTCTGGGCCCTGATCC -3'

Sequencing Primer
(F):5'- AAGCTGTGCTGGATGCC -3'
(R):5'- ATCCTCAGGGGCTGGGATCTAC -3'

Posted On

2015-07-21