Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4305001:Syt6'

554538

Institutional Source

Beutler Lab

Gene Symbol

Syt6

Ensembl Gene

ENSMUSG00000027849

Gene Name

synaptotagmin VI

Synonyms

3110037A08Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.144) question?

Stock #

PIT4305001 (G1)

Quality Score

85.0076

Status

Not validated

Chromosome

Chromosomal Location

103575231-103645569 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 103575453 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 26 (R26W)

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

possibly damaging
Transcript: ENSMUST00000090697
AA Change: R26W

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000088196
Gene: ENSMUSG00000027849
AA Change: R26W

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 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: R26W

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112997
Gene: ENSMUSG00000027849
AA Change: R26W

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: ENSMUST00000132325
AA Change: R26W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000116324
Gene: ENSMUSG00000027849
AA Change: R26W

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000136049
AA Change: R26W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000118124
Gene: ENSMUSG00000027849
AA Change: R26W

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000151985
AA Change: R26W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

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

1x: 93.4%
3x: 91.3%
10x: 86.8%
20x: 76.6%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts4	A	G	1: 171,259,041 (GRCm38)	N801D	probably benign	Het
Adcy2	T	C	13: 68,678,602 (GRCm38)	K661R	probably benign	Het
Akap1	A	T	11: 88,844,378 (GRCm38)	M486K	probably benign	Het
Arhgap40	T	A	2: 158,531,905 (GRCm38)	I202N	probably benign	Het
C1qtnf2	T	A	11: 43,491,195 (GRCm38)	L248Q	probably damaging	Het
Casp1	A	T	9: 5,306,135 (GRCm38)	H340L	probably benign	Het
Cd5	A	G	19: 10,726,386 (GRCm38)	V104A	possibly damaging	Het
Celsr1	T	A	15: 85,900,937 (GRCm38)	E3032V	possibly damaging	Het
Cts7	A	G	13: 61,356,572 (GRCm38)	I59T	probably damaging	Het
Cutc	G	T	19: 43,768,269 (GRCm38)	A267S	probably damaging	Het
Dmwd	A	G	7: 19,080,718 (GRCm38)	Q431R	probably damaging	Het
Dnah6	T	C	6: 73,065,755 (GRCm38)	N3280S	probably benign	Het
Dnah7b	A	T	1: 46,373,348 (GRCm38)	N4039I	probably damaging	Het
Dnaja4	T	C	9: 54,710,634 (GRCm38)	I260T	probably benign	Het
Drd5	T	C	5: 38,320,584 (GRCm38)	F307L	probably damaging	Het
Dsc2	C	T	18: 20,046,243 (GRCm38)	S256N	probably damaging	Het
Dstyk	G	T	1: 132,455,896 (GRCm38)	E617*	probably null	Het
Dusp15	G	A	2: 152,945,476 (GRCm38)	H72Y	probably benign	Het
Dysf	C	T	6: 84,100,234 (GRCm38)	R660*	probably null	Het
Fbxl13	T	A	5: 21,522,148 (GRCm38)	I584L	probably benign	Het
Gsap	T	C	5: 21,186,409 (GRCm38)	L16P	probably damaging	Het
Hgsnat	C	T	8: 25,945,199 (GRCm38)	A636T	possibly damaging	Het
Hivep1	A	G	13: 42,181,671 (GRCm38)	T161A		Het
Hspg2	T	C	4: 137,550,373 (GRCm38)	S2928P	possibly damaging	Het
Ifi214	G	A	1: 173,527,919 (GRCm38)	P108S	probably benign	Het
Il17ra	A	T	6: 120,481,406 (GRCm38)	Y506F	probably damaging	Het
Il9r	T	A	11: 32,194,734 (GRCm38)	Q53L	probably benign	Het
Irf2bp2	C	T	8: 126,592,659 (GRCm38)	G260R	probably damaging	Het
Jdp2	T	A	12: 85,638,852 (GRCm38)	I129N	probably damaging	Het
Kif1b	T	C	4: 149,220,792 (GRCm38)		probably null	Het
Klrd1	A	G	6: 129,596,707 (GRCm38)	T120A	unknown	Het
Lfng	A	G	5: 140,612,528 (GRCm38)	N202D	probably damaging	Het
Ltbp3	A	G	19: 5,752,067 (GRCm38)	E757G	probably damaging	Het
Ltn1	G	A	16: 87,420,323 (GRCm38)	P342L	probably damaging	Het
Lum	A	C	10: 97,568,876 (GRCm38)	Y211S	probably damaging	Het
Ncapd2	G	A	6: 125,184,027 (GRCm38)	R292*	probably null	Het
Nlrc4	T	C	17: 74,446,309 (GRCm38)	T360A	probably damaging	Het
Or4c1	T	C	2: 89,303,383 (GRCm38)	I70V	probably benign	Het
Or7g32	T	C	9: 19,478,061 (GRCm38)	Y63C	probably damaging	Het
Pakap	C	A	4: 57,638,029 (GRCm38)	T22K	possibly damaging	Het
Pde3a	A	G	6: 141,492,310 (GRCm38)	D1035G	probably benign	Het
Phf20l1	A	T	15: 66,613,052 (GRCm38)	K322I	possibly damaging	Het
Pik3r3	A	C	4: 116,292,126 (GRCm38)	N349T	probably benign	Het
Poc1a	A	G	9: 106,349,829 (GRCm38)	Q420R		Het
Prl7d1	A	T	13: 27,714,337 (GRCm38)	M63K	possibly damaging	Het
Rap1gds1	C	A	3: 138,956,300 (GRCm38)	M398I	probably benign	Het
Rapgef6	T	A	11: 54,679,377 (GRCm38)	V1192D	probably damaging	Het
Rif1	T	C	2: 52,111,958 (GRCm38)	V166A		Het
Robo4	T	C	9: 37,411,391 (GRCm38)	Y847H	probably damaging	Het
Sardh	T	C	2: 27,228,314 (GRCm38)	N468S	probably damaging	Het
Sema5a	A	G	15: 32,628,199 (GRCm38)	T553A	probably benign	Het
Serpina12	A	G	12: 104,035,717 (GRCm38)	Y247H	probably damaging	Het
Speer4e2	T	C	5: 14,978,790 (GRCm38)	D29G	probably benign	Het
Ston2	G	T	12: 91,648,502 (GRCm38)	D377E	possibly damaging	Het
Syne1	A	G	10: 5,333,023 (GRCm38)	S1557P	probably damaging	Het
Tep1	C	T	14: 50,829,227 (GRCm38)	G2305R	possibly damaging	Het
Ticrr	A	G	7: 79,679,023 (GRCm38)	T637A	possibly damaging	Het
Tnn	A	T	1: 160,086,077 (GRCm38)	F1546Y	possibly damaging	Het
Tpr	A	G	1: 150,440,137 (GRCm38)	D2055G	possibly damaging	Het
Trim39	A	G	17: 36,268,970 (GRCm38)	V31A	possibly damaging	Het
Trpc7	G	T	13: 56,887,508 (GRCm38)	T204K	probably benign	Het
Urgcp	T	C	11: 5,717,996 (GRCm38)	Y157C	probably damaging	Het
Vmn1r81	A	T	7: 12,260,663 (GRCm38)	I6K	probably benign	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
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
R6185:Syt6	UTSW	3	103,585,528 (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'- TCCTGCATGATGTGGGACAG -3'
(R):5'- TCCGAGCTAGACTTCTGAGG -3'

Sequencing Primer
(F):5'- AGGCAAGTCCCTGAGTGTG -3'
(R):5'- CCGAGCTAGACTTCTGAGGTTCTG -3'

Posted On

2019-06-07