Mutagenetix > Incidental Mutation

Incidental Mutation 'R8052:Syt8'

619115

Institutional Source

Beutler Lab

Gene Symbol

Syt8

Ensembl Gene

ENSMUSG00000031098

Gene Name

synaptotagmin VIII

Synonyms

MMRRC Submission

067489-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R8052 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

141988587-141994133 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 141993881 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 344 (G344D)

Ref Sequence

ENSEMBL: ENSMUSP00000113545 (fasta)

Gene Model

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

AlphaFold

Q9R0N6

Predicted Effect

probably damaging
Transcript: ENSMUST00000097939
AA Change: G338D

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000095552
Gene: ENSMUSG00000031098
AA Change: G338D

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 damaging
Transcript: ENSMUST00000105976
AA Change: G338D

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101596
Gene: ENSMUSG00000031098
AA Change: G338D

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 damaging
Transcript: ENSMUST00000118276
AA Change: G344D

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113545
Gene: ENSMUSG00000031098
AA Change: G344D

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 damaging
Transcript: ENSMUST00000122393
AA Change: G344D

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000112689
Gene: ENSMUSG00000031098
AA Change: G344D

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: 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

Predicted Effect

probably benign
Transcript: ENSMUST00000210239

Predicted Effect

probably benign
Transcript: ENSMUST00000210746

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi1	T	C	2: 22,843,555 (GRCm39)	T297A	probably benign	Het
Acadl	G	T	1: 66,892,337 (GRCm39)	T162K	probably benign	Het
Aldoart2	A	T	12: 55,612,536 (GRCm39)	I154F	probably damaging	Het
Alkbh8	G	A	9: 3,385,478 (GRCm39)	R625H	probably damaging	Het
Ankrd31	T	A	13: 96,969,036 (GRCm39)	V891E	probably benign	Het
Aopep	G	A	13: 63,216,065 (GRCm39)	V446I	probably damaging	Het
Atp8b5	C	T	4: 43,356,982 (GRCm39)	R577*	probably null	Het
Capn3	G	T	2: 120,316,867 (GRCm39)	E285D	probably benign	Het
Cd79b	G	T	11: 106,204,526 (GRCm39)	P87T	probably damaging	Het
Celsr2	T	G	3: 108,319,971 (GRCm39)	D947A	probably damaging	Het
Csmd3	A	C	15: 47,569,783 (GRCm39)	S1213R		Het
Cyp2j5	T	C	4: 96,552,241 (GRCm39)	M3V	probably benign	Het
Ddi1	C	T	9: 6,265,787 (GRCm39)	R194K	probably benign	Het
Decr1	T	C	4: 15,933,019 (GRCm39)	K49R	probably benign	Het
Dnah10	A	C	5: 124,905,575 (GRCm39)	E4130A	probably benign	Het
Dst	A	G	1: 34,323,444 (GRCm39)	D4648G	probably damaging	Het
Ecd	A	G	14: 20,380,020 (GRCm39)		probably null	Het
Erbin	A	T	13: 103,970,864 (GRCm39)	Y917*	probably null	Het
Evpl	T	C	11: 116,113,989 (GRCm39)	K1234E	probably benign	Het
F11r	T	A	1: 171,289,191 (GRCm39)	Y218N	possibly damaging	Het
Fam43a	C	G	16: 30,420,622 (GRCm39)	T402S	probably benign	Het
Frem2	T	C	3: 53,457,064 (GRCm39)	N2096S	probably benign	Het
Gpd2	T	A	2: 57,196,962 (GRCm39)	Y172*	probably null	Het
Hscb	A	G	5: 110,983,844 (GRCm39)	V90A	probably benign	Het
Iqgap2	T	C	13: 95,794,387 (GRCm39)	D1195G	probably damaging	Het
Map2k2	T	C	10: 80,950,900 (GRCm39)	I115T	probably damaging	Het
Mast2	C	T	4: 116,170,172 (GRCm39)	R707H	probably damaging	Het
Mindy4	A	G	6: 55,277,977 (GRCm39)	N607S	probably damaging	Het
Mrpl9	T	A	3: 94,351,050 (GRCm39)	Y77N	probably damaging	Het
Muc16	G	A	9: 18,570,347 (GRCm39)	T724I	unknown	Het
Nat3	A	T	8: 68,000,478 (GRCm39)	Y119F	possibly damaging	Het
Nol7	T	C	13: 43,554,990 (GRCm39)	S208P	probably damaging	Het
Notch3	A	T	17: 32,365,545 (GRCm39)	C1056S	probably damaging	Het
Nup50l	TCC	TCCGCC	6: 96,142,078 (GRCm39)		probably benign	Het
Nup50l	TCC	TCCCCC	6: 96,142,084 (GRCm39)		probably benign	Het
Or13j1	A	T	4: 43,705,884 (GRCm39)	V228E	probably damaging	Het
Or3a4	T	A	11: 73,945,301 (GRCm39)	I95F	probably benign	Het
Or5al5	A	T	2: 85,961,721 (GRCm39)	Y95*	probably null	Het
Or8g17	G	T	9: 38,930,783 (GRCm39)	T18K	probably damaging	Het
Osbpl3	A	C	6: 50,322,995 (GRCm39)	L288R	probably damaging	Het
Oscp1	A	C	4: 125,982,116 (GRCm39)	D352A	possibly damaging	Het
Pcdh9	G	A	14: 94,123,222 (GRCm39)	R983C	probably benign	Het
Pcdhgb8	T	C	18: 37,896,555 (GRCm39)	S542P	probably benign	Het
Pi4ka	T	C	16: 17,174,030 (GRCm39)	T490A		Het
Pkd1l1	A	T	11: 8,897,315 (GRCm39)	D531E		Het
Potefam3d	A	T	8: 69,975,404 (GRCm39)	Y21N	possibly damaging	Het
Prr3	G	T	17: 36,290,053 (GRCm39)	D26E	possibly damaging	Het
Psmd8	T	C	7: 28,880,001 (GRCm39)	K24E	probably benign	Het
Rasgrp4	G	A	7: 28,849,362 (GRCm39)	C583Y	probably damaging	Het
Rest	A	G	5: 77,416,171 (GRCm39)	I128M	probably benign	Het
Rftn1	A	T	17: 50,393,607 (GRCm39)	F144I	probably damaging	Het
Rusc2	T	C	4: 43,421,851 (GRCm39)	F757S	probably benign	Het
Ryr1	A	G	7: 28,782,810 (GRCm39)	S1942P	probably benign	Het
Sdk2	C	T	11: 113,745,177 (GRCm39)	R706Q	probably damaging	Het
Sergef	G	T	7: 46,264,062 (GRCm39)	T275K	probably damaging	Het
Serpina10	T	C	12: 103,594,569 (GRCm39)	T217A	probably damaging	Het
Shd	G	C	17: 56,283,235 (GRCm39)	S288T	probably damaging	Het
Siglec15	C	A	18: 78,091,803 (GRCm39)	A133S	possibly damaging	Het
Stat4	C	T	1: 52,118,932 (GRCm39)	P325L	probably damaging	Het
Tes	A	G	6: 17,097,291 (GRCm39)	E133G	probably benign	Het
Tmprss2	T	C	16: 97,369,616 (GRCm39)	Y386C	probably damaging	Het
Tnfrsf11b	A	T	15: 54,115,502 (GRCm39)	L365Q	probably damaging	Het
Tns1	T	A	1: 73,992,596 (GRCm39)	D67V	probably damaging	Het
Tns2	T	C	15: 102,021,280 (GRCm39)	S982P	probably damaging	Het
Tpcn2	A	T	7: 144,814,683 (GRCm39)	F473I	probably benign	Het
Tsg101	A	T	7: 46,542,257 (GRCm39)	I232N	probably damaging	Het
Ttc3	T	C	16: 94,268,848 (GRCm39)	S1977P	probably benign	Het
Ttll11	T	A	2: 35,869,527 (GRCm39)	E37V	unknown	Het
Ttn	A	T	2: 76,649,160 (GRCm39)	V12716E	possibly damaging	Het
Vmn2r70	A	C	7: 85,212,923 (GRCm39)	S495A	probably benign	Het
Zfp974	A	G	7: 27,610,697 (GRCm39)	C343R	probably damaging	Het
Zfy1	A	T	Y: 726,004 (GRCm39)	I587N	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
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
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

Predicted Primers

PCR Primer
(F):5'- CCTACTTCAACGAGGCCTTC -3'
(R):5'- TATCCACAGCTCTCCATCTGGG -3'

Sequencing Primer
(F):5'- TGGTTCCCGTTAGCCAGC -3'
(R):5'- TCTGGGAAAACTGAGACCCGC -3'

Posted On

2020-01-23