Mutagenetix > Incidental Mutation

Incidental Mutation 'R6185:Syt6'

502081

Institutional Source

Beutler Lab

Gene Symbol

Syt6

Ensembl Gene

ENSMUSG00000027849

Gene Name

synaptotagmin VI

Synonyms

3110037A08Rik

MMRRC Submission

044325-MU

Accession Numbers

Essential gene?

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

Stock #

R6185 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103575231-103645569 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 103585528 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 32 (D32V)

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
AA Change: D117V

PolyPhen 2 Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000088196
Gene: ENSMUSG00000027849
AA Change: D117V

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
AA Change: D32V

PolyPhen 2 Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000113373
Gene: ENSMUSG00000027849
AA Change: D32V

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: D32V

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000112486
Gene: ENSMUSG00000027849
AA Change: D32V

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: D32V

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000113287
Gene: ENSMUSG00000027849
AA Change: D32V

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
AA Change: D117V

PolyPhen 2 Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000112997
Gene: ENSMUSG00000027849
AA Change: D117V

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: D32V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000138874
Gene: ENSMUSG00000027849
AA Change: D32V

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

Meta Mutation Damage Score

0.1446

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

96% (80/83)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	T	4: 53,078,089 (GRCm38)	H894Q	probably benign	Het
Abca4	A	T	3: 122,126,140 (GRCm38)	I1024F	probably damaging	Het
Acadl	A	G	1: 66,838,363 (GRCm38)	V343A	possibly damaging	Het
Akr1e1	T	A	13: 4,601,253 (GRCm38)	I123L	probably benign	Het
Angptl2	T	C	2: 33,229,014 (GRCm38)	S267P	probably benign	Het
Ap2a1	T	G	7: 44,916,170 (GRCm38)	K91T	probably damaging	Het
Bend7	A	T	2: 4,788,522 (GRCm38)	Q379L	probably damaging	Het
Bicdl1	C	T	5: 115,670,153 (GRCm38)		probably null	Het
Cachd1	C	A	4: 100,981,031 (GRCm38)	Y830*	probably null	Het
Ccdc158	T	A	5: 92,666,854 (GRCm38)	I38F	possibly damaging	Het
Cep97	T	A	16: 55,915,092 (GRCm38)	M448L	probably benign	Het
Chd9	A	G	8: 91,049,137 (GRCm38)	D2572G	probably damaging	Het
Clcnkb	C	T	4: 141,414,514 (GRCm38)	V54M	probably benign	Het
Cln8	A	G	8: 14,896,544 (GRCm38)	D186G	probably benign	Het
Crxos	C	T	7: 15,902,880 (GRCm38)	S22L	possibly damaging	Het
Cx3cr1	A	T	9: 120,051,378 (GRCm38)	H319Q	probably benign	Het
Cyp2j6	G	C	4: 96,536,086 (GRCm38)	L145V	probably damaging	Het
Dmrta1	A	G	4: 89,691,768 (GRCm38)	R322G	probably damaging	Het
Dpf1	A	G	7: 29,311,271 (GRCm38)	E103G	possibly damaging	Het
Dsg1b	T	G	18: 20,399,486 (GRCm38)	V529G	probably benign	Het
Dst	G	A	1: 34,173,080 (GRCm38)	V1361I	probably damaging	Het
Epha4	T	C	1: 77,507,106 (GRCm38)	I89V	probably damaging	Het
Etfdh	G	T	3: 79,605,807 (GRCm38)	H370N	probably benign	Het
Fam186a	A	G	15: 99,947,649 (GRCm38)	I238T	unknown	Het
Fbxl5	T	A	5: 43,821,552 (GRCm38)	S19C	probably benign	Het
Fkbpl	G	A	17: 34,645,329 (GRCm38)	A24T	probably benign	Het
Fryl	A	G	5: 73,112,788 (GRCm38)	V367A	probably benign	Het
Gm19410	T	A	8: 35,807,510 (GRCm38)	L1495H	possibly damaging	Het
Gm19965	A	G	1: 116,821,273 (GRCm38)	E228G	possibly damaging	Het
Gpr89	C	A	3: 96,890,833 (GRCm38)	C169F	probably damaging	Het
Hmcn1	A	T	1: 150,615,438 (GRCm38)		probably null	Het
Hsph1	A	T	5: 149,617,695 (GRCm38)	C753S	probably damaging	Het
Igf2	T	A	7: 142,658,381 (GRCm38)	S4C	possibly damaging	Het
Kansl3	A	T	1: 36,346,018 (GRCm38)	S486T	probably damaging	Het
Khdrbs1	G	C	4: 129,742,275 (GRCm38)		probably benign	Het
Lnx1	A	T	5: 74,685,608 (GRCm38)	C60*	probably null	Het
Lrpprc	T	C	17: 84,767,024 (GRCm38)	D485G	probably benign	Het
Ly6i	A	T	15: 74,980,030 (GRCm38)	S97T	possibly damaging	Het
Me2	G	A	18: 73,791,128 (GRCm38)	Q338*	probably null	Het
Med16	A	T	10: 79,896,363 (GRCm38)	L790Q	probably damaging	Het
Muc16	G	T	9: 18,654,473 (GRCm38)	T2250K	unknown	Het
Myo10	T	G	15: 25,726,510 (GRCm38)	F273C	probably damaging	Het
Neil3	T	A	8: 53,599,147 (GRCm38)	H472L	probably benign	Het
Nrxn1	T	A	17: 90,037,136 (GRCm38)	S57C	probably damaging	Het
Nup188	A	T	2: 30,341,710 (GRCm38)	T1439S	probably damaging	Het
Olfr1128	A	G	2: 87,544,743 (GRCm38)	M267T	possibly damaging	Het
Olfr1512	T	C	14: 52,372,562 (GRCm38)	T164A	possibly damaging	Het
Olfr978	T	C	9: 39,994,124 (GRCm38)	F105L	probably benign	Het
Otud7a	T	A	7: 63,758,385 (GRCm38)	L812Q	probably damaging	Het
Paip2b	C	T	6: 83,809,970 (GRCm38)	A95T	probably benign	Het
Pax4	C	T	6: 28,446,348 (GRCm38)	V49I	probably damaging	Het
Plek	C	T	11: 16,981,829 (GRCm38)	A341T	probably damaging	Het
Prkag1	G	A	15: 98,825,714 (GRCm38)	P10L	probably benign	Het
R3hdm1	A	C	1: 128,151,861 (GRCm38)	D15A	possibly damaging	Het
Rad54b	A	T	4: 11,593,804 (GRCm38)	D144V	possibly damaging	Het
Rmi2	C	T	16: 10,886,209 (GRCm38)	T138I	probably benign	Het
Sbf1	A	G	15: 89,305,611 (GRCm38)	L379P	probably damaging	Het
Sec14l3	A	T	11: 4,075,244 (GRCm38)	I285F	probably damaging	Het
Sec31b	A	T	19: 44,543,284 (GRCm38)	I62N	possibly damaging	Het
Selp	A	G	1: 164,126,346 (GRCm38)	N72D	probably damaging	Het
Sipa1l1	T	A	12: 82,425,028 (GRCm38)	S1261T	probably damaging	Het
Sipa1l2	A	T	8: 125,468,253 (GRCm38)	Y915*	probably null	Het
Slc22a27	A	T	19: 7,926,588 (GRCm38)	D61E	probably benign	Het
Slc2a7	A	G	4: 150,148,993 (GRCm38)	T8A	probably benign	Het
Slc5a2	T	C	7: 128,271,177 (GRCm38)	I529T	probably damaging	Het
Spg20	A	C	3: 55,117,219 (GRCm38)	Q78H	probably damaging	Het
Spocd1	T	C	4: 129,956,449 (GRCm38)	I756T	probably benign	Het
Stc1	G	A	14: 69,038,364 (GRCm38)	C202Y	probably damaging	Het
Stk10	A	G	11: 32,577,749 (GRCm38)	T166A	probably benign	Het
Tanc1	T	A	2: 59,791,585 (GRCm38)		probably null	Het
Tanc2	T	A	11: 105,913,039 (GRCm38)	N297K	probably damaging	Het
Telo2	A	G	17: 25,102,040 (GRCm38)	S734P	probably benign	Het
Tfrc	T	A	16: 32,618,272 (GRCm38)	Y250N	probably benign	Het
Tmem97	C	T	11: 78,543,562 (GRCm38)	W65*	probably null	Het
Ubr3	T	C	2: 69,938,277 (GRCm38)	M476T	probably damaging	Het
Ubtf	T	C	11: 102,314,023 (GRCm38)	T117A	probably damaging	Het
Usp17lb	T	A	7: 104,841,424 (GRCm38)	M99L	probably benign	Het
Uvrag	A	C	7: 99,140,832 (GRCm38)		probably null	Het
Vmn2r63	A	G	7: 42,929,011 (GRCm38)	S153P	probably damaging	Het
Vmn2r90	A	T	17: 17,733,382 (GRCm38)	T603S	probably damaging	Het
Vps8	C	A	16: 21,470,141 (GRCm38)	L417I	probably damaging	Het

Other mutations in Syt6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00838:Syt6	APN	3	103,625,626 (GRCm38)	missense	probably damaging	0.98
IGL02944:Syt6	APN	3	103,575,549 (GRCm38)	unclassified	probably benign
IGL03168:Syt6	APN	3	103,587,627 (GRCm38)	missense	probably damaging	1.00
PIT4305001:Syt6	UTSW	3	103,575,453 (GRCm38)	missense	possibly damaging	0.91
R0124:Syt6	UTSW	3	103,587,526 (GRCm38)	missense	probably damaging	1.00
R0587:Syt6	UTSW	3	103,625,571 (GRCm38)	missense	probably damaging	0.99
R0601:Syt6	UTSW	3	103,620,890 (GRCm38)	missense	probably damaging	1.00
R1262:Syt6	UTSW	3	103,585,340 (GRCm38)	critical splice acceptor site	probably null
R1970:Syt6	UTSW	3	103,587,420 (GRCm38)	missense	probably benign	0.21
R4012:Syt6	UTSW	3	103,625,493 (GRCm38)	splice site	probably benign
R4450:Syt6	UTSW	3	103,585,645 (GRCm38)	missense	probably benign	0.01
R4493:Syt6	UTSW	3	103,585,630 (GRCm38)	missense	probably damaging	0.99
R4494:Syt6	UTSW	3	103,585,630 (GRCm38)	missense	probably damaging	0.99
R4495:Syt6	UTSW	3	103,587,560 (GRCm38)	nonsense	probably null
R4740:Syt6	UTSW	3	103,625,656 (GRCm38)	missense	probably damaging	1.00
R4750:Syt6	UTSW	3	103,630,917 (GRCm38)	makesense	probably null
R5668:Syt6	UTSW	3	103,620,901 (GRCm38)	missense	probably damaging	1.00
R6660:Syt6	UTSW	3	103,625,644 (GRCm38)	missense	probably damaging	1.00
R7120:Syt6	UTSW	3	103,587,357 (GRCm38)	missense	probably damaging	1.00
R7307:Syt6	UTSW	3	103,587,472 (GRCm38)	missense	probably damaging	1.00
R7501:Syt6	UTSW	3	103,587,702 (GRCm38)	missense	probably benign	0.01
R8768:Syt6	UTSW	3	103,585,534 (GRCm38)	missense	probably benign
R8867:Syt6	UTSW	3	103,627,055 (GRCm38)	missense	possibly damaging	0.91
R8885:Syt6	UTSW	3	103,625,625 (GRCm38)	missense	probably benign	0.06
R9068:Syt6	UTSW	3	103,587,509 (GRCm38)	nonsense	probably null
R9098:Syt6	UTSW	3	103,585,579 (GRCm38)	missense	probably damaging	0.96
R9361:Syt6	UTSW	3	103,575,363 (GRCm38)	unclassified	probably benign
Z1177:Syt6	UTSW	3	103,645,115 (GRCm38)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CTCCTCGCCGTGGTAGTTATTG -3'
(R):5'- TCAGAAAGTATGGCTGCACG -3'

Sequencing Primer
(F):5'- CCGTGGTAGTTATTGTGTGTGGC -3'
(R):5'- TGAGGAGCACGCCACTCAC -3'

Posted On

2018-02-27