Mutagenetix > Incidental Mutation

Incidental Mutation 'R9068:Syt6'

689352

Institutional Source

Beutler Lab

Gene Symbol

Syt6

Ensembl Gene

ENSMUSG00000027849

Gene Name

synaptotagmin VI

Synonyms

3110037A08Rik

MMRRC Submission

068892-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.123) question?

Stock #

R9068 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103482561-103552883 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 103494825 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 263 (C263*)

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 null
Transcript: ENSMUST00000090697
AA Change: C263*

SMART Domains

Protein: ENSMUSP00000088196
Gene: ENSMUSG00000027849
AA Change: C263*

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 null
Transcript: ENSMUST00000117221
AA Change: C178*

SMART Domains

Protein: ENSMUSP00000113373
Gene: ENSMUSG00000027849
AA Change: C178*

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 null
Transcript: ENSMUST00000118117
AA Change: C178*

SMART Domains

Protein: ENSMUSP00000112486
Gene: ENSMUSG00000027849
AA Change: C178*

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 null
Transcript: ENSMUST00000118563
AA Change: C178*

SMART Domains

Protein: ENSMUSP00000113287
Gene: ENSMUSG00000027849
AA Change: C178*

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 null
Transcript: ENSMUST00000121834
AA Change: C263*

SMART Domains

Protein: ENSMUSP00000112997
Gene: ENSMUSG00000027849
AA Change: C263*

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

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (57/59)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	C	6: 23,075,828 (GRCm39)	I770V	probably benign	Het
Abtb3	C	A	10: 85,223,762 (GRCm39)	N190K	unknown	Het
Actr10	T	C	12: 70,989,073 (GRCm39)	L64S	probably damaging	Het
Adam22	T	C	5: 8,177,343 (GRCm39)	T589A	probably benign	Het
Akr1b7	T	C	6: 34,395,977 (GRCm39)	S160P	probably damaging	Het
Ankrd52	C	T	10: 128,217,850 (GRCm39)	H277Y	probably damaging	Het
Cc2d1b	T	A	4: 108,482,062 (GRCm39)	L112Q	probably damaging	Het
Cd200r3	T	A	16: 44,773,750 (GRCm39)		probably benign	Het
Clec3a	A	G	8: 115,152,375 (GRCm39)	D127G	probably damaging	Het
Cnnm3	T	C	1: 36,551,962 (GRCm39)	L324P	probably damaging	Het
Cspp1	T	C	1: 10,147,469 (GRCm39)		probably null	Het
Cwf19l1	C	T	19: 44,124,274 (GRCm39)		probably benign	Het
Cyp26b1	G	A	6: 84,551,379 (GRCm39)	T470I	probably damaging	Het
Dedd2	A	G	7: 24,917,092 (GRCm39)	V110A	probably benign	Het
Dnah8	A	G	17: 30,975,729 (GRCm39)	I2866M	possibly damaging	Het
Dpp10	T	C	1: 123,360,667 (GRCm39)	Y286C	probably damaging	Het
Efna2	C	T	10: 80,024,524 (GRCm39)	P177L	probably damaging	Het
Fbxo46	A	G	7: 18,869,325 (GRCm39)		probably benign	Het
Gdpd5	A	T	7: 99,108,048 (GRCm39)	T542S	probably benign	Het
Gm136	T	G	4: 34,750,928 (GRCm39)	D115A	possibly damaging	Het
Gm7356	T	A	17: 14,221,687 (GRCm39)	K114I	possibly damaging	Het
Gpr180	G	T	14: 118,385,658 (GRCm39)	E157*	probably null	Het
Grk4	T	C	5: 34,905,653 (GRCm39)	I466T		Het
Hic1	A	G	11: 75,060,332 (GRCm39)	M5T	unknown	Het
Hmcn2	C	A	2: 31,303,685 (GRCm39)	N3058K	probably benign	Het
Htr5a	T	A	5: 28,055,799 (GRCm39)	H263Q	probably benign	Het
Lrrc7	T	C	3: 157,946,138 (GRCm39)	K187R	probably benign	Het
Map3k8	A	T	18: 4,340,557 (GRCm39)	H252Q	probably benign	Het
Muc4	CAC	CACTAC	16: 32,575,367 (GRCm39)		probably benign	Het
Naa16	A	T	14: 79,612,289 (GRCm39)	M233K	probably benign	Het
Napsa	A	T	7: 44,235,223 (GRCm39)	D336V	probably damaging	Het
Neurod1	T	A	2: 79,285,218 (GRCm39)	N55I	possibly damaging	Het
Or10d5	A	T	9: 39,862,087 (GRCm39)		probably benign	Het
Or4c115	A	T	2: 88,927,369 (GRCm39)	C301S	probably benign	Het
Or5an9	T	C	19: 12,187,703 (GRCm39)	F258L	probably damaging	Het
Or8b12	T	A	9: 37,657,963 (GRCm39)	C178S	probably damaging	Het
Pcdha8	G	T	18: 37,127,323 (GRCm39)	G602C	probably damaging	Het
Peg10	T	TCCG	6: 4,756,451 (GRCm39)		probably benign	Het
Pigr	G	A	1: 130,774,231 (GRCm39)	V404M	probably damaging	Het
Plch1	G	A	3: 63,612,036 (GRCm39)	P803L	probably damaging	Het
Ppp4r3b	T	A	11: 29,159,396 (GRCm39)	F583L	probably benign	Het
Rit2	A	T	18: 31,108,468 (GRCm39)	D172E	possibly damaging	Het
Skint4	C	T	4: 112,022,932 (GRCm39)	P476S	possibly damaging	Het
Slco2b1	A	G	7: 99,320,171 (GRCm39)	V353A	probably benign	Het
Slit3	A	G	11: 35,574,917 (GRCm39)	D1077G	probably damaging	Het
Sun2	A	G	15: 79,612,252 (GRCm39)	F478L	probably benign	Het
Tfpi	C	A	2: 84,273,235 (GRCm39)	L229F	unknown	Het
Tmem131l	A	T	3: 83,817,775 (GRCm39)	C1242S	probably benign	Het
Ttc3	T	A	16: 94,204,219 (GRCm39)	W280R	probably damaging	Het
Uncx	A	G	5: 139,532,573 (GRCm39)	K213E	possibly damaging	Het
Usp24	T	C	4: 106,232,875 (GRCm39)	L887P	probably benign	Het
Vmn1r178	A	T	7: 23,593,404 (GRCm39)	I151F	probably damaging	Het
Vmn2r50	G	T	7: 9,772,061 (GRCm39)	Q547K	possibly damaging	Het
Vwf	A	G	6: 125,625,792 (GRCm39)		probably benign	Het
Wdfy3	A	T	5: 102,000,451 (GRCm39)	V2973D	probably benign	Het
Zbtb49	T	C	5: 38,358,289 (GRCm39)	M655V	probably benign	Het
Zc3h3	C	T	15: 75,711,499 (GRCm39)	A321T	probably benign	Het
Zeb2	T	A	2: 45,000,040 (GRCm39)	R65W	possibly damaging	Het
Zfp541	A	G	7: 15,812,376 (GRCm39)	E343G	probably damaging	Het
Zfp775	C	A	6: 48,597,151 (GRCm39)	R342S	probably damaging	Het
Zwilch	A	G	9: 64,075,942 (GRCm39)	F27L	probably benign	Het

Other mutations in Syt6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00838:Syt6	APN	3	103,532,942 (GRCm39)	missense	probably damaging	0.98
IGL02944:Syt6	APN	3	103,482,865 (GRCm39)	unclassified	probably benign
IGL03168:Syt6	APN	3	103,494,943 (GRCm39)	missense	probably damaging	1.00
PIT4305001:Syt6	UTSW	3	103,482,769 (GRCm39)	missense	possibly damaging	0.91
R0124:Syt6	UTSW	3	103,494,842 (GRCm39)	missense	probably damaging	1.00
R0587:Syt6	UTSW	3	103,532,887 (GRCm39)	missense	probably damaging	0.99
R0601:Syt6	UTSW	3	103,528,206 (GRCm39)	missense	probably damaging	1.00
R1262:Syt6	UTSW	3	103,492,656 (GRCm39)	critical splice acceptor site	probably null
R1970:Syt6	UTSW	3	103,494,736 (GRCm39)	missense	probably benign	0.21
R4012:Syt6	UTSW	3	103,532,809 (GRCm39)	splice site	probably benign
R4450:Syt6	UTSW	3	103,492,961 (GRCm39)	missense	probably benign	0.01
R4493:Syt6	UTSW	3	103,492,946 (GRCm39)	missense	probably damaging	0.99
R4494:Syt6	UTSW	3	103,492,946 (GRCm39)	missense	probably damaging	0.99
R4495:Syt6	UTSW	3	103,494,876 (GRCm39)	nonsense	probably null
R4740:Syt6	UTSW	3	103,532,972 (GRCm39)	missense	probably damaging	1.00
R4750:Syt6	UTSW	3	103,538,233 (GRCm39)	makesense	probably null
R5668:Syt6	UTSW	3	103,528,217 (GRCm39)	missense	probably damaging	1.00
R6185:Syt6	UTSW	3	103,492,844 (GRCm39)	missense	probably damaging	1.00
R6660:Syt6	UTSW	3	103,532,960 (GRCm39)	missense	probably damaging	1.00
R7120:Syt6	UTSW	3	103,494,673 (GRCm39)	missense	probably damaging	1.00
R7307:Syt6	UTSW	3	103,494,788 (GRCm39)	missense	probably damaging	1.00
R7501:Syt6	UTSW	3	103,495,018 (GRCm39)	missense	probably benign	0.01
R8768:Syt6	UTSW	3	103,492,850 (GRCm39)	missense	probably benign
R8867:Syt6	UTSW	3	103,534,371 (GRCm39)	missense	possibly damaging	0.91
R8885:Syt6	UTSW	3	103,532,941 (GRCm39)	missense	probably benign	0.06
R9098:Syt6	UTSW	3	103,492,895 (GRCm39)	missense	probably damaging	0.96
R9361:Syt6	UTSW	3	103,482,679 (GRCm39)	unclassified	probably benign
Z1177:Syt6	UTSW	3	103,552,431 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AGTATTGGCCGTATCAAGCCTG -3'
(R):5'- AGATTGTCCAGGATGACCTCC -3'

Sequencing Primer
(F):5'- AACTTCAGCCTCCGCTAT -3'
(R):5'- CCAATCATGTCATGGCGGGAG -3'

Posted On

2021-11-19