Mutagenetix > Incidental Mutations

Incidental Mutation 'R7048:Syt10'

547458

Institutional Source

Beutler Lab

Gene Symbol

Syt10

Ensembl Gene

ENSMUSG00000063260

Gene Name

synaptotagmin X

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R7048 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89782393-89841860 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 89790805 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 446 (V446G)

Ref Sequence

ENSEMBL: ENSMUSP00000029441 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029441]

Predicted Effect

probably damaging
Transcript: ENSMUST00000029441
AA Change: V446G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029441
Gene: ENSMUSG00000063260
AA Change: V446G

Domain	Start	End	E-Value	Type
transmembrane domain	55	77	N/A	INTRINSIC
low complexity region	105	126	N/A	INTRINSIC
C2	247	350	1.22e-19	SMART
C2	379	493	7.73e-22	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

97% (66/68)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-in allele exhibit minor circadian rhythm impairments. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl2	T	C	3: 148,846,929	D629G	probably damaging	Het
Akap11	T	A	14: 78,512,514	Q811L		Het
Ank2	T	A	3: 127,025,618	Q468L	probably benign	Het
Ano3	A	T	2: 110,682,771	Y626*	probably null	Het
Ap1m1	A	G	8: 72,249,798	N114S	probably damaging	Het
Asb3	T	A	11: 31,101,121	I525N	probably damaging	Het
Atg4a-ps	A	G	3: 103,645,356	I223T	probably damaging	Het
B3gnt7	T	C	1: 86,305,586	Y68H	probably benign	Het
Bbs5	T	C	2: 69,654,361	I125T	probably benign	Het
Cd180	A	G	13: 102,704,923	N159S	probably damaging	Het
Cd37	T	C	7: 45,238,464		probably benign	Het
Cdk14	T	A	5: 5,093,005	Q242L	probably damaging	Het
Clcn1	T	C	6: 42,307,543	V605A	probably damaging	Het
Cped1	G	A	6: 22,119,470	M309I	probably benign	Het
Cyp2r1	A	T	7: 114,552,736	Y120N	probably damaging	Het
Ddx3y	A	T	Y: 1,279,491	S124R	probably benign	Het
Dlec1	A	T	9: 119,143,404		probably null	Het
Dnah17	T	C	11: 118,046,118	E3420G	possibly damaging	Het
Dnajc13	C	T	9: 104,203,414		probably null	Het
Dusp23	A	T	1: 172,631,686	Y136*	probably null	Het
Eif4b	A	G	15: 102,093,136		probably benign	Het
F13a1	A	G	13: 36,898,143	V529A	probably benign	Het
Fhl2	A	G	1: 43,123,648	Y236H	probably damaging	Het
Gm826	C	T	2: 160,327,106	W94*	probably null	Het
Gpsm2	C	T	3: 108,703,045	R33H	probably damaging	Het
Hmcn1	T	C	1: 150,599,653		probably null	Het
Ifit1bl2	T	C	19: 34,619,151	D355G	probably benign	Het
Itga8	A	G	2: 12,111,084	V77A	probably damaging	Het
Kcmf1	C	T	6: 72,849,467	R40K	probably damaging	Het
Kdm7a	T	C	6: 39,169,048	E315G	probably damaging	Het
Kmt2b	C	T	7: 30,569,306	G2666D	probably damaging	Het
Lrrtm1	A	G	6: 77,244,169	N203S	probably damaging	Het
Mdn1	A	G	4: 32,767,969	N5301D	probably benign	Het
Mest	T	G	6: 30,742,724	H108Q	probably damaging	Het
Moxd1	C	A	10: 24,281,476	D335E	probably damaging	Het
Ncf2	A	C	1: 152,808,170	N47H	probably benign	Het
Npc1	A	G	18: 12,204,765		probably null	Het
Olfr113	A	T	17: 37,575,223	S67T	probably damaging	Het
Pcid2	A	G	8: 13,078,243	V386A	probably benign	Het
Phactr2	T	A	10: 13,245,424	T444S	probably benign	Het
Plekha7	T	C	7: 116,148,324	N710D	probably benign	Het
Ppp1r16b	C	T	2: 158,757,254	T382I	probably benign	Het
Pramef20	T	C	4: 144,377,184	D124G	probably benign	Het
Ptprz1	A	T	6: 22,961,623	Y111F	probably benign	Het
Rbbp8	A	G	18: 11,732,220	E722G	possibly damaging	Het
Rimbp3	A	G	16: 17,210,326	D538G	probably benign	Het
Rims1	A	G	1: 22,472,820	S551P	probably damaging	Het
Rrnad1	A	G	3: 87,929,860	I36T	probably damaging	Het
Rsrc1	A	G	3: 67,180,831	D166G	probably damaging	Het
Selenon	T	C	4: 134,542,843	N350S	probably benign	Het
Sh3gl2	T	A	4: 85,377,565	L168H	probably damaging	Het
Smc3	T	C	19: 53,629,251	Y560H	probably benign	Het
Syce1	C	T	7: 140,779,368	D147N	possibly damaging	Het
Taar1	T	C	10: 23,920,824	L140P	probably benign	Het
Tfpi2	C	A	6: 3,968,032	C36F	probably damaging	Het
Thoc5	G	A	11: 4,926,237		probably null	Het
Tnrc6c	T	A	11: 117,721,974	N319K	probably benign	Het
Trhr2	C	T	8: 122,358,679	D189N	probably damaging	Het
Trim42	A	T	9: 97,363,421	F442Y	probably damaging	Het
Ubap2	G	A	4: 41,196,033	T949I	possibly damaging	Het
Ugt1a8	T	C	1: 88,088,302	F146L	probably benign	Het
Vmn2r80	C	A	10: 79,194,319	Q660K	probably damaging	Het
Vstm2b	C	T	7: 40,929,376	T258I	possibly damaging	Het
Washc2	T	C	6: 116,220,583	L259P	possibly damaging	Het
Zscan18	A	T	7: 12,774,744		probably benign	Het
Zzef1	T	G	11: 72,866,699	Y1193*	probably null	Het

Other mutations in Syt10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02718:Syt10	APN	15	89814079	missense	probably damaging	1.00
IGL02976:Syt10	APN	15	89814479	missense	probably benign	0.26
R0200:Syt10	UTSW	15	89826941	missense	probably benign	0.01
R0306:Syt10	UTSW	15	89826988	missense	probably benign	0.02
R0580:Syt10	UTSW	15	89827176	missense	probably benign	0.15
R0608:Syt10	UTSW	15	89826941	missense	probably benign	0.01
R1705:Syt10	UTSW	15	89790776	missense	probably damaging	1.00
R1706:Syt10	UTSW	15	89790776	missense	probably damaging	1.00
R1921:Syt10	UTSW	15	89790776	missense	probably damaging	1.00
R1922:Syt10	UTSW	15	89790776	missense	probably damaging	1.00
R2072:Syt10	UTSW	15	89790776	missense	probably damaging	1.00
R2074:Syt10	UTSW	15	89790776	missense	probably damaging	1.00
R2119:Syt10	UTSW	15	89790776	missense	probably damaging	1.00
R2120:Syt10	UTSW	15	89790776	missense	probably damaging	1.00
R2121:Syt10	UTSW	15	89790776	missense	probably damaging	1.00
R3812:Syt10	UTSW	15	89790797	missense	probably benign
R4029:Syt10	UTSW	15	89814538	missense	probably benign
R4270:Syt10	UTSW	15	89790892	missense	probably benign	0.39
R4536:Syt10	UTSW	15	89782622	missense	probably damaging	0.99
R5333:Syt10	UTSW	15	89841729	missense	probably benign	0.00
R6042:Syt10	UTSW	15	89841621	missense	probably benign	0.13
R6104:Syt10	UTSW	15	89826864	missense	probably benign	0.02
R6445:Syt10	UTSW	15	89814268	missense	probably damaging	1.00
R6470:Syt10	UTSW	15	89792601	missense	probably damaging	1.00
R6472:Syt10	UTSW	15	89814558	missense	probably benign
R6679:Syt10	UTSW	15	89814371	missense	probably damaging	1.00
R7128:Syt10	UTSW	15	89814111	missense	probably damaging	1.00
R7315:Syt10	UTSW	15	89814338	missense	probably damaging	0.99
R7352:Syt10	UTSW	15	89814456	missense	probably benign	0.42
R7686:Syt10	UTSW	15	89814157	missense	probably damaging	1.00
R7789:Syt10	UTSW	15	89826898	missense	probably damaging	1.00
R7937:Syt10	UTSW	15	89782617	missense	probably damaging	1.00
R8532:Syt10	UTSW	15	89792686	missense	probably damaging	1.00
X0057:Syt10	UTSW	15	89826928	missense	probably damaging	1.00
Z1088:Syt10	UTSW	15	89841639	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GCTGCTTTGGAGATGAAACCAAG -3'
(R):5'- GTTTTATGCATTACCACGGGTG -3'

Sequencing Primer
(F):5'- CCAAGCCGGAACTAGAACTATAGG -3'
(R):5'- ATGCATTACCACGGGTGCTTTC -3'

Posted On

2019-05-13