Mutagenetix > Incidental Mutation

Incidental Mutation 'R9361:Syt6'

708672

Institutional Source

Beutler Lab

Gene Symbol

Syt6

Ensembl Gene

ENSMUSG00000027849

Gene Name

synaptotagmin VI

Synonyms

3110037A08Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9361 (G1)

Quality Score

149.008

Status

Not validated

Chromosome

Chromosomal Location

103575231-103645569 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to A at 103575363 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

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

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

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1190005I06Rik	C	T	8: 120,634,321	A12T	unknown	Het
2810474O19Rik	T	G	6: 149,326,634	S393A	possibly damaging	Het
4933402N22Rik	C	T	5: 11,920,679	T105M		Het
A430089I19Rik	G	T	5: 94,303,142	P375H	probably damaging	Het
Aasdh	T	A	5: 76,882,378	T792S	probably benign	Het
Actl11	T	A	9: 107,928,625	L49Q	probably damaging	Het
Adcy3	G	T	12: 4,209,366	R881L	possibly damaging	Het
Alox15	T	G	11: 70,350,853	K67N	probably damaging	Het
Amotl1	C	T	9: 14,593,381	R177Q	probably benign	Het
Ankrd34c	T	A	9: 89,730,130	I53F	probably damaging	Het
Atp8b5	T	A	4: 43,369,658	F932Y	possibly damaging	Het
Bckdk	A	G	7: 127,907,343	M281V	probably benign	Het
Ccdc33	C	T	9: 58,117,625	C106Y	possibly damaging	Het
Celsr3	T	A	9: 108,849,322	I3250N	probably damaging	Het
Ces1g	A	T	8: 93,335,018		probably null	Het
Ces2b	G	A	8: 104,837,407		probably null	Het
Clspn	A	T	4: 126,585,861	D1033V	probably damaging	Het
Cntln	G	T	4: 85,049,914	R790I	probably benign	Het
Cspg4	T	C	9: 56,896,593	V1656A	probably damaging	Het
Dlgap1	A	T	17: 70,761,264	D610V	probably damaging	Het
Eya4	C	A	10: 23,109,867	G579W	probably damaging	Het
Fam46b	G	T	4: 133,486,150	A111S	probably damaging	Het
Fam83b	T	C	9: 76,492,794	I342M	probably benign	Het
Fhdc1	A	C	3: 84,448,833	C435G	probably damaging	Het
Fktn	G	A	4: 53,734,854	G125D	probably benign	Het
Fras1	T	G	5: 96,776,698	L3666R	probably damaging	Het
Gm11639	C	T	11: 105,005,698	T4291I	probably benign	Het
Gm21560	T	A	14: 6,218,262	H72L	possibly damaging	Het
Gtsf2	C	T	15: 103,439,639	W148*	probably null	Het
Gucy2c	T	C	6: 136,737,431	K466E	possibly damaging	Het
Higd2a	T	A	13: 54,590,307	D14E	probably benign	Het
Hlcs	C	T	16: 94,138,940	V513M	probably benign	Het
Ido1	T	C	8: 24,589,585	T148A	probably benign	Het
Ighv1-5	T	A	12: 114,513,365	T106S	probably damaging	Het
Igkv4-92	T	C	6: 68,755,106	T95A	possibly damaging	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,189,077		probably benign	Het
Larp4b	T	G	13: 9,149,901	F278V	probably damaging	Het
Lrch4	G	A	5: 137,636,814	R225H	probably damaging	Het
Mapkbp1	T	C	2: 120,014,771	Y378H	probably benign	Het
Nme9	T	A	9: 99,459,722	C42S	probably damaging	Het
Olfr1380	A	G	11: 49,564,476	K185R	probably damaging	Het
Pdlim2	T	G	14: 70,164,741	T309P	probably damaging	Het
Prodh	C	T	16: 18,080,970	C207Y	probably benign	Het
Prom1	A	T	5: 44,055,887	L168Q	probably damaging	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,819,695		probably benign	Het
Shkbp1	T	C	7: 27,352,067	Q189R	probably benign	Het
Skint4	T	C	4: 112,143,824	L372S	probably damaging	Het
Slc4a11	C	T	2: 130,691,744	A100T	probably damaging	Het
Specc1	A	T	11: 62,146,318	E699D	probably benign	Het
St5	A	G	7: 109,527,784	S907P	probably damaging	Het
Tg	A	G	15: 66,685,397	E969G	possibly damaging	Het
Tie1	A	C	4: 118,479,632	H632Q	probably benign	Het
Trappc12	A	G	12: 28,746,418	W372R	probably damaging	Het
Trav7d-4	T	C	14: 52,770,149	V33A	probably damaging	Het
Ugdh	A	T	5: 65,418,543	N324K	probably damaging	Het
Vmn2r79	G	T	7: 87,003,614		probably null	Het
Washc2	T	C	6: 116,262,472	*1335Q	probably null	Het
Yme1l1	C	T	2: 23,191,051	T445I	possibly damaging	Het
Zdhhc11	T	C	13: 73,974,618	C158R	probably damaging	Het
Zfp128	T	C	7: 12,890,437	L244P	probably damaging	Het
Zfp445	T	A	9: 122,861,822	I103F	probably damaging	Het
Zfp980	A	T	4: 145,701,429	T243S	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
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
Z1177:Syt6	UTSW	3	103645115	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ATCCTGCATGATGTGGGAC -3'
(R):5'- TCTCCCAGTACCTGAGTCTG -3'

Sequencing Primer
(F):5'- AGGCAAGTCCCTGAGTGTG -3'
(R):5'- AGTACCTGAGTCTGCCGCG -3'

Posted On

2022-04-18