Mutagenetix > Incidental Mutation

Incidental Mutation 'R1262:Syt6'

151615

Institutional Source

Beutler Lab

Gene Symbol

Syt6

Ensembl Gene

ENSMUSG00000027849

Gene Name

synaptotagmin VI

Synonyms

3110037A08Rik

MMRRC Submission

039329-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.123) question?

Stock #

R1262 (G1)

Quality Score

220

Status

Not validated

Chromosome

Chromosomal Location

103482561-103552883 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to T at 103492656 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000138874 (fasta)

Gene Model

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

AlphaFold

Q9R0N8

Predicted Effect

probably null
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 null
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 null
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 null
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 null
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 null
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 null
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 null
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 null
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 null
Transcript: ENSMUST00000183637

SMART Domains

Protein: ENSMUSP00000138874
Gene: ENSMUSG00000027849

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

Predicted Effect

probably null
Transcript: ENSMUST00000183637

SMART Domains

Protein: ENSMUSP00000138874
Gene: ENSMUSG00000027849

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

Predicted Effect

probably null
Transcript: ENSMUST00000183637

SMART Domains

Protein: ENSMUSP00000138874
Gene: ENSMUSG00000027849

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

Predicted Effect

probably benign
Transcript: ENSMUST00000151985

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.7%

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: 14 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	C	6: 86,912,470 (GRCm39)	V114A	probably benign	Het
BC048679	A	G	7: 81,145,089 (GRCm39)	F85L	probably benign	Het
Btbd7	A	G	12: 102,754,210 (GRCm39)	I852T	probably benign	Het
Cenpk	T	A	13: 104,367,293 (GRCm39)	V43E	possibly damaging	Het
Chmp7	C	T	14: 69,956,899 (GRCm39)	M336I	probably benign	Het
Cyp2b10	C	T	7: 25,614,836 (GRCm39)	T281M	probably benign	Het
Lrriq1	T	C	10: 103,069,998 (GRCm39)	D6G	possibly damaging	Het
Ltbp1	A	G	17: 75,532,280 (GRCm39)	Q118R	possibly damaging	Het
Nipsnap3b	G	T	4: 53,015,166 (GRCm39)	G71V	probably damaging	Het
Or51b6b	G	A	7: 103,309,648 (GRCm39)	P270S	probably benign	Het
Or52h1	A	G	7: 103,828,623 (GRCm39)		probably null	Het
Snx25	T	A	8: 46,558,328 (GRCm39)	R80S	probably damaging	Het
Tas1r2	G	A	4: 139,382,599 (GRCm39)	R79Q	probably damaging	Het
Ttc7	C	T	17: 87,648,364 (GRCm39)	T521I	probably benign	Het

Other mutations in Syt6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00838:Syt6	APN	3	103,532,942 (GRCm39)	missense	probably damaging	0.98
IGL02944:Syt6	APN	3	103,482,865 (GRCm39)	unclassified	probably benign
IGL03168:Syt6	APN	3	103,494,943 (GRCm39)	missense	probably damaging	1.00
PIT4305001:Syt6	UTSW	3	103,482,769 (GRCm39)	missense	possibly damaging	0.91
R0124:Syt6	UTSW	3	103,494,842 (GRCm39)	missense	probably damaging	1.00
R0587:Syt6	UTSW	3	103,532,887 (GRCm39)	missense	probably damaging	0.99
R0601:Syt6	UTSW	3	103,528,206 (GRCm39)	missense	probably damaging	1.00
R1970:Syt6	UTSW	3	103,494,736 (GRCm39)	missense	probably benign	0.21
R4012:Syt6	UTSW	3	103,532,809 (GRCm39)	splice site	probably benign
R4450:Syt6	UTSW	3	103,492,961 (GRCm39)	missense	probably benign	0.01
R4493:Syt6	UTSW	3	103,492,946 (GRCm39)	missense	probably damaging	0.99
R4494:Syt6	UTSW	3	103,492,946 (GRCm39)	missense	probably damaging	0.99
R4495:Syt6	UTSW	3	103,494,876 (GRCm39)	nonsense	probably null
R4740:Syt6	UTSW	3	103,532,972 (GRCm39)	missense	probably damaging	1.00
R4750:Syt6	UTSW	3	103,538,233 (GRCm39)	makesense	probably null
R5668:Syt6	UTSW	3	103,528,217 (GRCm39)	missense	probably damaging	1.00
R6185:Syt6	UTSW	3	103,492,844 (GRCm39)	missense	probably damaging	1.00
R6660:Syt6	UTSW	3	103,532,960 (GRCm39)	missense	probably damaging	1.00
R7120:Syt6	UTSW	3	103,494,673 (GRCm39)	missense	probably damaging	1.00
R7307:Syt6	UTSW	3	103,494,788 (GRCm39)	missense	probably damaging	1.00
R7501:Syt6	UTSW	3	103,495,018 (GRCm39)	missense	probably benign	0.01
R8768:Syt6	UTSW	3	103,492,850 (GRCm39)	missense	probably benign
R8867:Syt6	UTSW	3	103,534,371 (GRCm39)	missense	possibly damaging	0.91
R8885:Syt6	UTSW	3	103,532,941 (GRCm39)	missense	probably benign	0.06
R9068:Syt6	UTSW	3	103,494,825 (GRCm39)	nonsense	probably null
R9098:Syt6	UTSW	3	103,492,895 (GRCm39)	missense	probably damaging	0.96
R9361:Syt6	UTSW	3	103,482,679 (GRCm39)	unclassified	probably benign
Z1177:Syt6	UTSW	3	103,552,431 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AAACCGTAGCTTCTTCCCGTGAC -3'
(R):5'- GCGCATGATGTGCTCTTTGACC -3'

Sequencing Primer
(F):5'- GACTTGGTAGCTTTGCTCATAAC -3'
(R):5'- AAGTGTGGCTGATCTTCACAG -3'

Posted On

2014-01-29