Mutagenetix > Incidental Mutation

Incidental Mutation 'R8867:Syt6'

675990

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: 0.164) question?

Stock #

R8867 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103575231-103645569 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103627055 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 481 (N481D)

Ref Sequence

ENSEMBL: ENSMUSP00000112997 (fasta)

Gene Model

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

AlphaFold

Q9R0N8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000090697
AA Change: N481D

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000088196
Gene: ENSMUSG00000027849
AA Change: N481D

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

possibly damaging
Transcript: ENSMUST00000117221
AA Change: N396D

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113373
Gene: ENSMUSG00000027849
AA Change: N396D

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 damaging
Transcript: ENSMUST00000118117
AA Change: N396D

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000112486
Gene: ENSMUSG00000027849
AA Change: N396D

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

possibly damaging
Transcript: ENSMUST00000121834
AA Change: N481D

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112997
Gene: ENSMUSG00000027849
AA Change: N481D

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

99% (78/79)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310002L09Rik	G	A	4: 73,942,850	S171F	probably damaging	Het
A130010J15Rik	T	C	1: 193,175,098	S253P	probably damaging	Het
Acbd5	T	C	2: 23,080,358	M97T	possibly damaging	Het
Aire	T	C	10: 78,037,975	E300G	probably damaging	Het
Ano1	A	G	7: 144,669,660	S99P	possibly damaging	Het
Ap5z1	A	G	5: 142,477,256	N732D	probably benign	Het
Apcs	A	T	1: 172,894,437	L114Q	possibly damaging	Het
Apmap	T	C	2: 150,589,966		probably benign	Het
Asxl3	C	A	18: 22,516,490	T512N	possibly damaging	Het
Atp1a4	T	C	1: 172,244,924	T388A	probably damaging	Het
Bcl2a1a	A	T	9: 88,957,450	I134L	probably damaging	Het
Chd6	G	A	2: 161,021,069	A444V	probably benign	Het
Cmbl	C	A	15: 31,581,927	H23Q	probably benign	Het
Cnnm2	T	A	19: 46,762,557	I262N	probably damaging	Het
Col6a3	C	T	1: 90,787,951	R2260H	unknown	Het
Cracr2a	T	A	6: 127,629,773	L260*	probably null	Het
Csmd2	A	G	4: 128,557,676	Y3409C		Het
Cyp4b1	C	T	4: 115,635,972	R225H	possibly damaging	Het
Dcdc2a	C	T	13: 25,202,283	A380V	probably benign	Het
Dnah6	A	G	6: 73,021,148	L4097P	probably damaging	Het
Dpcr1	A	T	17: 35,637,980	F242L	probably benign	Het
Dppa3	G	A	6: 122,628,643	R52Q	probably benign	Het
Fbxo31	C	T	8: 121,555,228	R311H	probably benign	Het
Fhad1	T	C	4: 141,929,574	R90G	probably damaging	Het
Fitm2	A	T	2: 163,469,682	W204R	possibly damaging	Het
Gatb	T	A	3: 85,604,409	L157H	probably damaging	Het
Gm34653	A	G	2: 34,838,624	D145G	probably damaging	Het
Gm5111	G	A	6: 48,589,695		probably null	Het
Gm7298	A	C	6: 121,771,829	I688L	probably benign	Het
Hecw1	T	C	13: 14,247,690		probably null	Het
Ift122	T	A	6: 115,880,671	V126E	probably damaging	Het
Iqcf6	A	T	9: 106,627,499	I121F	possibly damaging	Het
Kif21a	A	G	15: 90,968,179	V902A	probably damaging	Het
Klhl38	T	C	15: 58,315,039	M512V	probably benign	Het
Klk1b1	A	C	7: 43,970,323	N102T	probably damaging	Het
Lama4	T	A	10: 39,048,000	L468Q	probably damaging	Het
Lilra5	A	T	7: 4,238,166	Q34L	possibly damaging	Het
Lrrc7	T	A	3: 158,161,884	D740V	probably damaging	Het
Mapk7	G	T	11: 61,493,806	P25T	probably benign	Het
Mcm3ap	C	A	10: 76,470,704	A217D	probably benign	Het
Ncaph2	A	G	15: 89,370,402	E406G	probably benign	Het
Ncor2	T	C	5: 125,102,675	I69V	unknown	Het
Nfatc3	A	G	8: 106,079,008	S170G	probably damaging	Het
Nptn	G	A	9: 58,618,981	R137Q	probably damaging	Het
Nsd1	A	T	13: 55,282,757	K1581N	probably damaging	Het
Olfr1105	G	T	2: 87,033,459	T254K	probably damaging	Het
Olfr224	A	G	11: 58,566,736	L203P	probably damaging	Het
Olfr357	T	C	2: 36,997,679	Y290H	probably damaging	Het
Olfr597	T	A	7: 103,321,242	L277Q		Het
Olfr630	G	A	7: 103,754,686	Q300*	probably null	Het
Olfr801	A	T	10: 129,669,759	C253*	probably null	Het
Park2	A	G	17: 11,237,561	T91A	probably benign	Het
Pdcl	T	C	2: 37,352,336	E134G	probably damaging	Het
Pikfyve	T	A	1: 65,244,417	Y738N	probably damaging	Het
Pkd1	A	G	17: 24,573,833	D1498G	probably damaging	Het
Plxna1	T	C	6: 89,333,097	N1029D	probably benign	Het
Ppp3cb	C	A	14: 20,546,449		probably benign	Het
Rgs18	T	A	1: 144,753,960	D187V	probably damaging	Het
Ripor2	C	T	13: 24,638,777		probably benign	Het
Rnf165	T	C	18: 77,475,486	E159G	possibly damaging	Het
Rpl3l	G	A	17: 24,735,481	G172D	probably damaging	Het
Sdf4	A	G	4: 156,009,302	T298A	probably damaging	Het
Slc17a3	T	C	13: 23,855,960	V327A		Het
Slc4a1ap	T	A	5: 31,550,715	F677L	probably benign	Het
Stoml2	A	G	4: 43,028,256	V324A	probably benign	Het
Syne2	A	G	12: 75,942,846	Q1833R	probably damaging	Het
Tert	T	C	13: 73,628,447	M439T	probably benign	Het
Thsd7a	A	T	6: 12,338,687	D1181E		Het
Tln2	G	A	9: 67,330,550	T33I	probably damaging	Het
Top3a	A	G	11: 60,742,655	S872P	probably benign	Het
Trim10	T	C	17: 36,870,156	L93P	probably benign	Het
Trpc7	C	T	13: 56,860,933	S307N	probably benign	Het
Ttc37	C	T	13: 76,131,309	S620L	probably damaging	Het
Ttn	A	T	2: 76,810,083	V13727E	probably damaging	Het
Vmn1r220	T	C	13: 23,184,101	S142G	probably benign	Het
Vmn1r32	A	G	6: 66,553,667	S42P	probably damaging	Het
Zc3h7b	G	A	15: 81,772,480	R166Q	probably benign	Het
Zfp683	C	T	4: 134,058,684	T374I	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
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
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'- GATAAACACTGGTTTCGGAGC -3'
(R):5'- TACACTAGAGGTTCCCCATGC -3'

Sequencing Primer
(F):5'- TTTCGGAGCACACAGTTCAG -3'
(R):5'- ATGCCCCCTTTCCATAAGAGG -3'

Posted On

2021-07-15