Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03168:Syt6'

411706

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Syt6

Ensembl Gene

ENSMUSG00000027849

Gene Name

synaptotagmin VI

Synonyms

3110037A08Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

IGL03168

Quality Score

Status

Chromosome

Chromosomal Location

103575231-103645569 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 103587627 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 303 (V303M)

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 damaging
Transcript: ENSMUST00000090697
AA Change: V303M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000088196
Gene: ENSMUSG00000027849
AA Change: V303M

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: V218M

PolyPhen 2 Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000113373
Gene: ENSMUSG00000027849
AA Change: V218M

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

possibly damaging
Transcript: ENSMUST00000118117
AA Change: V218M

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000112486
Gene: ENSMUSG00000027849
AA Change: V218M

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: ENSMUST00000118563
AA Change: V218M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113287
Gene: ENSMUSG00000027849
AA Change: V218M

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 damaging
Transcript: ENSMUST00000121834
AA Change: V303M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112997
Gene: ENSMUSG00000027849
AA Change: V303M

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

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c6	T	C	13: 4,436,281	V29A	probably benign	Het
Ankk1	C	A	9: 49,415,768	A704S	possibly damaging	Het
Aph1c	G	A	9: 66,833,337		probably benign	Het
Arglu1	T	A	8: 8,683,960	I119L	probably benign	Het
Brwd1	A	T	16: 96,017,677	S1318R	possibly damaging	Het
Chd3	A	G	11: 69,348,915		probably benign	Het
Colq	T	C	14: 31,524,420	Y445C	probably damaging	Het
Cyp2a4	A	T	7: 26,313,550		probably benign	Het
Cyp2j7	C	T	4: 96,230,037	M106I	probably benign	Het
Erfe	T	G	1: 91,371,442	N302K	probably damaging	Het
Fam26d	C	T	10: 34,041,556	V300I	probably benign	Het
Fggy	A	T	4: 95,926,809		probably benign	Het
Gata3	A	G	2: 9,868,814	Y290H	probably damaging	Het
Grik4	T	C	9: 42,671,243	T136A	probably damaging	Het
Hc	G	T	2: 35,024,198	N832K	probably benign	Het
Jhy	A	T	9: 40,917,552	S353T	possibly damaging	Het
Krt40	T	A	11: 99,543,028	Q44L	possibly damaging	Het
Ksr2	T	C	5: 117,748,781	F794S	probably damaging	Het
Olfr1094	A	G	2: 86,829,263	I170M	possibly damaging	Het
Olfr1178	A	G	2: 88,391,594	M116V	probably damaging	Het
Olfr138	A	C	17: 38,274,791	S7R	probably damaging	Het
Olfr166	A	T	16: 19,487,219	H127L	probably benign	Het
Olfr198	A	G	16: 59,202,247	Y60H	probably damaging	Het
Olfr905	A	G	9: 38,473,019	T91A	probably benign	Het
Pcdhb17	A	G	18: 37,485,772	E205G	probably benign	Het
Pon3	A	T	6: 5,256,177	I17K	possibly damaging	Het
Prkd2	A	G	7: 16,850,263	D347G	possibly damaging	Het
Prkdc	A	G	16: 15,834,166	I3806V	probably benign	Het
Qpct	C	A	17: 79,052,324	A20E	unknown	Het
Rap1a	A	G	3: 105,750,271	S11P	probably damaging	Het
Rnf145	C	A	11: 44,555,158	T273K	probably damaging	Het
Speg	T	C	1: 75,388,187	I298T	probably damaging	Het
Tpr	A	G	1: 150,408,757	I324M	probably benign	Het
Uggt2	A	G	14: 119,077,668	F330L	probably damaging	Het
Unc45a	A	T	7: 80,333,133	L348Q	probably damaging	Het
Vmn1r17	T	A	6: 57,360,598	I212F	probably benign	Het
Vmn2r68	A	C	7: 85,221,764	N770K	probably damaging	Het
Zfhx3	T	C	8: 108,946,500	V1394A	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
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
R9361:Syt6	UTSW	3	103575363	unclassified	probably benign
Z1177:Syt6	UTSW	3	103645115	missense	unknown

Posted On

2016-08-02