Mutagenetix > Incidental Mutation

Incidental Mutation 'R0032:Syt8'

15317

Institutional Source

Beutler Lab

Gene Symbol

Syt8

Ensembl Gene

ENSMUSG00000031098

Gene Name

synaptotagmin VIII

Synonyms

MMRRC Submission

038326-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R0032 (G1) of strain 731

Quality Score

Status

Validated

Chromosome

Chromosomal Location

141988587-141994133 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 141992926 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 152 (V152A)

Ref Sequence

ENSEMBL: ENSMUSP00000112689 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097939] [ENSMUST00000105971] [ENSMUST00000105973] [ENSMUST00000105976] [ENSMUST00000105977] [ENSMUST00000118276] [ENSMUST00000122393] [ENSMUST00000210239] [ENSMUST00000210746] [ENSMUST00000145287] [ENSMUST00000149529]

AlphaFold

Q9R0N6

Predicted Effect

probably benign
Transcript: ENSMUST00000097939
AA Change: V146A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000095552
Gene: ENSMUSG00000031098
AA Change: V146A

Domain	Start	End	E-Value	Type
transmembrane domain	37	59	N/A	INTRINSIC
C2	123	222	1.86e-15	SMART
C2	251	361	8.69e-16	SMART
low complexity region	380	388	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105971

SMART Domains

Protein: ENSMUSP00000101591
Gene: ENSMUSG00000031097

Domain	Start	End	E-Value	Type
Pfam:Troponin	15	145	1.1e-54	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105973

SMART Domains

Protein: ENSMUSP00000101593
Gene: ENSMUSG00000031097

Domain	Start	End	E-Value	Type
Pfam:Troponin	10	153	1.9e-49	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105976
AA Change: V146A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000101596
Gene: ENSMUSG00000031098
AA Change: V146A

Domain	Start	End	E-Value	Type
transmembrane domain	37	59	N/A	INTRINSIC
C2	123	222	1.86e-15	SMART
C2	251	361	8.69e-16	SMART
low complexity region	380	388	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105977

SMART Domains

Protein: ENSMUSP00000101597
Gene: ENSMUSG00000031098

Domain	Start	End	E-Value	Type
Pfam:UPF0560	14	88	2.7e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000118276
AA Change: V152A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000113545
Gene: ENSMUSG00000031098
AA Change: V152A

Domain	Start	End	E-Value	Type
transmembrane domain	43	65	N/A	INTRINSIC
C2	129	228	1.86e-15	SMART
C2	257	367	8.69e-16	SMART
low complexity region	386	394	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000122393
AA Change: V152A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000112689
Gene: ENSMUSG00000031098
AA Change: V152A

Domain	Start	End	E-Value	Type
transmembrane domain	43	65	N/A	INTRINSIC
C2	129	228	1.86e-15	SMART
C2	257	367	8.69e-16	SMART
low complexity region	386	394	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128481

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145964

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131034

Predicted Effect

probably benign
Transcript: ENSMUST00000210239

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129618

Predicted Effect

probably benign
Transcript: ENSMUST00000210746

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211192

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124963

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148896

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150192

Predicted Effect

probably benign
Transcript: ENSMUST00000145287

SMART Domains

Protein: ENSMUSP00000121819
Gene: ENSMUSG00000031097

Domain	Start	End	E-Value	Type
Pfam:Troponin	15	135	4.2e-49	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000149529

SMART Domains

Protein: ENSMUSP00000122733
Gene: ENSMUSG00000031097

Domain	Start	End	E-Value	Type
Pfam:Troponin	15	145	1.1e-54	PFAM

Meta Mutation Damage Score

0.3322

Coding Region Coverage

1x: 80.9%
3x: 73.4%
10x: 52.4%
20x: 32.5%

Validation Efficiency

94% (87/93)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the synaptotagmin protein family. Synaptotagmins are membrane proteins that are important in neurotransmission and hormone secretion, both of which involve regulated exocytosis. Expression of the encoded protein in human pancreatic islets has been connected to activity of the promoter for the insulin gene, on the same chromosome several hundred kilobases away (PMID: 21336277 and 22928559). This association would link response to gluclose to insulin secretion. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss3	T	A	10: 106,959,156 (GRCm39)	T97S	probably benign	Het
Adcy1	T	C	11: 7,094,729 (GRCm39)	S552P	possibly damaging	Het
C2cd3	T	A	7: 100,093,652 (GRCm39)		probably benign	Het
Cd86	A	T	16: 36,441,235 (GRCm39)	S77R	probably damaging	Het
Cfap54	C	T	10: 92,768,559 (GRCm39)	R188H	probably benign	Het
Cpne8	T	A	15: 90,453,771 (GRCm39)		probably benign	Het
Ctsg	T	A	14: 56,339,196 (GRCm39)	I21F	probably damaging	Het
Cyp2j9	T	G	4: 96,457,043 (GRCm39)	N476T	possibly damaging	Het
Dcaf4	G	A	12: 83,582,762 (GRCm39)		probably benign	Het
Dennd4c	T	C	4: 86,746,387 (GRCm39)		probably null	Het
Dicer1	A	T	12: 104,671,057 (GRCm39)	L995*	probably null	Het
Dnah10	A	G	5: 124,877,955 (GRCm39)	K2623R	possibly damaging	Het
Dnajc21	G	T	15: 10,461,963 (GRCm39)	T146K	probably benign	Het
Dnmbp	A	C	19: 43,891,158 (GRCm39)	L203R	probably damaging	Het
Eif4g1	C	T	16: 20,504,648 (GRCm39)	S829F	probably damaging	Het
Enkur	T	C	2: 21,194,115 (GRCm39)	I153V	probably benign	Het
Erf	T	C	7: 24,944,500 (GRCm39)	Y277C	possibly damaging	Het
Fcsk	G	A	8: 111,618,735 (GRCm39)	T341M	possibly damaging	Het
Fstl5	T	A	3: 76,555,742 (GRCm39)		probably benign	Het
Grm3	A	G	5: 9,561,452 (GRCm39)		probably null	Het
Il11ra1	A	G	4: 41,768,187 (GRCm39)	E366G	probably damaging	Het
Ipo8	A	G	6: 148,712,209 (GRCm39)	C261R	probably damaging	Het
Itga11	T	C	9: 62,681,377 (GRCm39)	F998L	probably benign	Het
Krt74	T	A	15: 101,669,887 (GRCm39)		noncoding transcript	Het
Me2	T	G	18: 73,927,596 (GRCm39)	M219L	probably benign	Het
Mlh3	A	G	12: 85,292,523 (GRCm39)		probably benign	Het
Nfx1	T	A	4: 41,015,321 (GRCm39)	V842E	probably benign	Het
Oma1	T	A	4: 103,223,209 (GRCm39)	S465T	possibly damaging	Het
Opa1	A	T	16: 29,433,887 (GRCm39)	H574L	probably damaging	Het
Pcsk5	T	C	19: 17,542,179 (GRCm39)	N804S	possibly damaging	Het
Pde4a	C	A	9: 21,112,728 (GRCm39)		probably benign	Het
Pilra	T	A	5: 137,829,527 (GRCm39)	D179V	probably damaging	Het
Piwil1	G	A	5: 128,820,344 (GRCm39)	S247N	probably benign	Het
Prss58	T	G	6: 40,872,633 (GRCm39)	T158P	probably benign	Het
Slc35e3	T	C	10: 117,580,837 (GRCm39)	M156V	probably benign	Het
Slit2	G	A	5: 48,414,198 (GRCm39)	R938Q	probably damaging	Het
Tppp2	G	T	14: 52,156,866 (GRCm39)	R81L	possibly damaging	Het
Trpc3	A	G	3: 36,698,405 (GRCm39)	I618T	probably damaging	Het
Zc3h4	T	A	7: 16,168,565 (GRCm39)	D891E	unknown	Het
Zfp120	A	T	2: 149,959,512 (GRCm39)	V270E	possibly damaging	Het

Other mutations in Syt8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01980:Syt8	APN	7	141,993,877 (GRCm39)	missense	probably damaging	1.00
R0032:Syt8	UTSW	7	141,992,926 (GRCm39)	missense	probably benign	0.00
R1819:Syt8	UTSW	7	141,991,971 (GRCm39)	missense	possibly damaging	0.81
R4549:Syt8	UTSW	7	141,993,199 (GRCm39)	missense	probably benign	0.13
R4550:Syt8	UTSW	7	141,993,199 (GRCm39)	missense	probably benign	0.13
R6964:Syt8	UTSW	7	141,993,158 (GRCm39)	missense	probably benign	0.00
R8008:Syt8	UTSW	7	141,992,259 (GRCm39)	missense	probably benign	0.00
R8052:Syt8	UTSW	7	141,993,881 (GRCm39)	missense	probably damaging	0.97
R8139:Syt8	UTSW	7	141,992,005 (GRCm39)	missense	probably benign	0.01
R9574:Syt8	UTSW	7	141,993,203 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-12-17