Mutagenetix > Incidental Mutation

Incidental Mutation 'R9098:Syt6'

691461

Institutional Source

Beutler Lab

Gene Symbol

Syt6

Ensembl Gene

ENSMUSG00000027849

Gene Name

synaptotagmin VI

Synonyms

3110037A08Rik

MMRRC Submission

068913-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

R9098 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103575231-103645569 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103585579 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 134 (I134T)

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: I134T

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000088196
Gene: ENSMUSG00000027849
AA Change: I134T

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 damaging
Transcript: ENSMUST00000117221
AA Change: I49T

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000113373
Gene: ENSMUSG00000027849
AA Change: I49T

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: I49T

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

SMART Domains

Protein: ENSMUSP00000112486
Gene: ENSMUSG00000027849
AA Change: I49T

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: I49T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000113287
Gene: ENSMUSG00000027849
AA Change: I49T

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: I134T

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000112997
Gene: ENSMUSG00000027849
AA Change: I134T

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: I49T

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000138874
Gene: ENSMUSG00000027849
AA Change: I49T

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: 98.8%

Validation Efficiency

97% (72/74)

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
4931417E11Rik	T	C	6: 73,469,534	T11A	probably benign	Het
A830018L16Rik	A	T	1: 11,562,987	D168V	probably damaging	Het
Abcb4	A	T	5: 8,958,441	D1203V	probably damaging	Het
Acat2	G	A	17: 12,960,092		probably benign	Het
Adam3	C	T	8: 24,689,468	C611Y	probably damaging	Het
Adgrb1	A	G	15: 74,543,340	D638G	probably damaging	Het
Adra1b	T	C	11: 43,776,391	N340D	probably damaging	Het
Ankrd31	A	G	13: 96,780,371	H131R	probably damaging	Het
Aoc2	T	C	11: 101,326,338	S416P	possibly damaging	Het
Armc8	G	A	9: 99,505,309	R419*	probably null	Het
Atp6v1h	T	G	1: 5,093,415	V90G	probably damaging	Het
Avl9	T	C	6: 56,730,643	V191A	probably benign	Het
Bsn	G	A	9: 108,112,974	P1860S	possibly damaging	Het
Btd	A	G	14: 31,662,276	K73R	probably benign	Het
Cd22	T	C	7: 30,867,966	K731R	probably benign	Het
Chmp7	C	A	14: 69,719,462	L332F	probably damaging	Het
Cldn11	A	G	3: 31,163,127	E148G	probably damaging	Het
Cmtm1	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	8: 104,309,702		probably null	Het
Cnbd1	A	T	4: 18,886,061	Y319*	probably null	Het
Cnnm4	A	G	1: 36,472,089	T133A	probably benign	Het
Cpeb4	A	T	11: 31,872,679	E131V	probably benign	Het
Ctns	A	G	11: 73,187,735		probably null	Het
Dhx36	C	A	3: 62,506,720	E74*	probably null	Het
Dhx36	C	A	3: 62,506,721	Q73H	probably benign	Het
Dnah5	A	G	15: 28,419,961	T3802A		Het
Fbxo31	G	A	8: 121,554,397	R337C	probably damaging	Het
Flnc	C	T	6: 29,455,519	Q2056*	probably null	Het
Fmo9	T	C	1: 166,664,630	D408G	possibly damaging	Het
Gipr	C	T	7: 19,163,570	S117N	unknown	Het
Gm13088	A	T	4: 143,654,527	Y309N	probably benign	Het
Gm14412	T	A	2: 177,314,563	H513L	probably damaging	Het
Gm21663	G	C	5: 25,942,169	C46W	probably benign	Het
Gm29776	T	G	14: 54,695,229	S393R	probably damaging	Het
Gucy1a2	A	T	9: 3,634,489	I178L	probably benign	Het
Htr1b	A	T	9: 81,632,428	L42Q		Het
Htr2b	T	C	1: 86,099,759	T342A	probably damaging	Het
Jph2	C	T	2: 163,339,553	V564M	probably damaging	Het
Kcnmb1	A	G	11: 33,964,806	T36A	probably damaging	Het
Krit1	A	C	5: 3,813,135	K310N	probably benign	Het
Lama1	C	T	17: 67,804,513	T2253M		Het
Lpar6	C	T	14: 73,238,793	L65F	probably damaging	Het
Megf6	G	A	4: 154,269,703	G1355R	probably damaging	Het
Mkl2	A	G	16: 13,403,189	H743R	probably benign	Het
Mmp3	T	A	9: 7,446,936	Y39N	probably damaging	Het
Ms4a18	C	A	19: 11,013,377	V118F		Het
Mthfr	G	A	4: 148,041,625	S51N	probably benign	Het
Muc16	T	A	9: 18,643,679	T3773S	unknown	Het
Mus81	T	A	19: 5,484,004	K400*	probably null	Het
Naaladl2	A	T	3: 24,433,180	D192E	probably benign	Het
Naip5	T	C	13: 100,229,619	D329G	possibly damaging	Het
Nek11	T	A	9: 105,293,657	H393L	probably benign	Het
Nmt2	T	A	2: 3,305,278		probably benign	Het
Nmur2	T	C	11: 56,029,582	D279G	possibly damaging	Het
Nol4l	C	A	2: 153,470,710	R226L	probably damaging	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,595,266		probably benign	Het
Olfr961	A	G	9: 39,647,083	D119G	probably damaging	Het
Olfr97	T	C	17: 37,232,070	Y100C	probably benign	Het
Olfr992	T	C	2: 85,399,651	N294S	probably damaging	Het
Palm	A	G	10: 79,819,154	T249A	probably benign	Het
Rhobtb3	A	G	13: 75,939,583	I95T	probably damaging	Het
Rnpep	A	T	1: 135,278,821	F178L	possibly damaging	Het
Rsl1d1	A	G	16: 11,201,363	S105P	probably damaging	Het
Rxra	C	T	2: 27,748,744	T253I	possibly damaging	Het
Schip1	A	G	3: 68,064,985	D15G		Het
Sis	T	A	3: 72,937,245	I719F	possibly damaging	Het
Snx18	A	G	13: 113,617,774	S208P	probably benign	Het
Srcap	T	C	7: 127,552,644	V2125A	probably damaging	Het
Stx7	C	T	10: 24,182,826	Q199*	probably null	Het
Tlr12	A	G	4: 128,617,077	M460T	probably benign	Het
Tnni3k	T	C	3: 154,941,677	T398A	possibly damaging	Het
Tspan4	T	C	7: 141,491,903	S188P	probably benign	Het
Ubap2l	A	G	3: 90,002,449	S1025P	unknown	Het
Ubl7	A	G	9: 57,921,752	D219G	probably benign	Het
Vmn2r115	C	A	17: 23,345,829	T230K	probably benign	Het
Vmn2r95	T	A	17: 18,439,905	M193K	possibly damaging	Het
Zfp639	A	G	3: 32,519,736	E170G	probably damaging	Het
Zfy1	A	G	Y: 725,987	S593P	possibly damaging	Het
Zscan4-ps1	T	A	7: 11,065,568	T465S	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
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
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'- ATCAGAAAGTATGGCTGCACGG -3'

Sequencing Primer
(F):5'- CCCTGGTGGCAGTTTTTCTC -3'
(R):5'- TATGGCTGCACGGAGGGG -3'

Posted On

2021-12-30