Mutagenetix > Incidental Mutation

Incidental Mutation 'R5769:Syt12'

446468

Institutional Source

Beutler Lab

Gene Symbol

Syt12

Ensembl Gene

ENSMUSG00000049303

Gene Name

synaptotagmin XII

Synonyms

MMRRC Submission

043369-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5769 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4495936-4527171 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4501072 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 326 (Y326C)

Ref Sequence

ENSEMBL: ENSMUSP00000055237 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059295]

AlphaFold

Q920N7

Predicted Effect

probably damaging
Transcript: ENSMUST00000059295
AA Change: Y326C

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

SMART Domains

Protein: ENSMUSP00000055237
Gene: ENSMUSG00000049303
AA Change: Y326C

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC
low complexity region	45	55	N/A	INTRINSIC
C2	168	272	1.8e-6	SMART
C2	299	405	4.9e-20	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128114

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132579

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133871

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136632

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154407

Meta Mutation Damage Score

0.8196

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

98% (65/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the synaptotagmin gene family and encodes a protein similar to other family members that mediate calcium-dependent regulation of membrane trafficking in synaptic transmission. Studies of the orthologous gene in rat have shown that the encoded protein selectively modulates spontaneous synaptic-vesicle exocytosis and may also be involved in regulating calcium independent secretion in nonneuronal cells. Alternative splicing results in multiple transcript variants. The gene has previously been referred to as synaptotagmin XI but has been renamed synaptotagmin XII to be standard with mouse and rat official nomenclature.[provided by RefSeq, Apr 2010]
PHENOTYPE: Mice homozygous for a knock-in allele are viable. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	T	A	5: 138,644,595 (GRCm39)	V160E	possibly damaging	Het
Abcb1a	A	C	5: 8,733,426 (GRCm39)	E106A	probably benign	Het
Acap3	A	T	4: 155,986,857 (GRCm39)	D371V	probably damaging	Het
Ahi1	T	C	10: 20,835,981 (GRCm39)		probably null	Het
Coq8a	A	G	1: 180,006,681 (GRCm39)	Y69H	probably damaging	Het
Defb33	T	A	8: 21,387,543 (GRCm39)	F27I	possibly damaging	Het
Dhx29	T	A	13: 113,090,251 (GRCm39)	L776Q	probably damaging	Het
Dnah3	G	A	7: 119,689,175 (GRCm39)	R80*	probably null	Het
Dtna	A	T	18: 23,784,611 (GRCm39)	D646V	probably benign	Het
Eml5	T	A	12: 98,756,878 (GRCm39)	D1964V	probably damaging	Het
Fbn2	A	T	18: 58,238,271 (GRCm39)	N575K	probably damaging	Het
Fbxo38	G	A	18: 62,648,036 (GRCm39)	P834L	probably benign	Het
Fyb2	G	T	4: 104,870,518 (GRCm39)	K706N	probably damaging	Het
Fyb2	T	A	4: 104,872,841 (GRCm39)	V738E	probably damaging	Het
Gcm1	A	G	9: 77,972,249 (GRCm39)	T397A	probably benign	Het
Gins1	A	T	2: 150,767,918 (GRCm39)	E149D	probably damaging	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Grin2a	C	T	16: 9,579,390 (GRCm39)	R291K	possibly damaging	Het
Hdac10	T	C	15: 89,007,819 (GRCm39)	M646V	probably benign	Het
Hes6	G	T	1: 91,340,671 (GRCm39)	R38S	probably damaging	Het
Hipk3	G	A	2: 104,265,298 (GRCm39)	P667S	possibly damaging	Het
Jrk	T	C	15: 74,577,917 (GRCm39)	Q456R	probably benign	Het
Klf18	A	C	4: 117,586,162 (GRCm39)		probably benign	Het
Loxl3	A	G	6: 83,027,581 (GRCm39)	T708A	probably damaging	Het
Lyg1	T	C	1: 37,989,831 (GRCm39)	S19G	unknown	Het
Magel2	T	A	7: 62,027,861 (GRCm39)	M255K	probably benign	Het
Mctp1	A	G	13: 76,907,927 (GRCm39)	D242G	probably damaging	Het
Med13	A	T	11: 86,236,829 (GRCm39)	N109K	probably benign	Het
Mms19	A	G	19: 41,952,825 (GRCm39)	F95L	probably damaging	Het
Nav1	A	G	1: 135,379,995 (GRCm39)	L1569P	probably damaging	Het
Nup188	A	G	2: 30,220,747 (GRCm39)	E940G	probably benign	Het
Oas1d	T	C	5: 121,054,917 (GRCm39)	F163S	probably benign	Het
Odf2l	A	G	3: 144,841,492 (GRCm39)	K304R	possibly damaging	Het
Otud3	T	A	4: 138,625,421 (GRCm39)	N211I	possibly damaging	Het
Pabpc6	A	T	17: 9,886,772 (GRCm39)	L593*	probably null	Het
Pdcd11	T	A	19: 47,091,076 (GRCm39)	L350Q	possibly damaging	Het
Pdia4	A	G	6: 47,792,446 (GRCm39)		probably benign	Het
Pik3cb	G	A	9: 98,975,212 (GRCm39)	Q223*	probably null	Het
Plb1	G	A	5: 32,474,866 (GRCm39)	V696M	probably benign	Het
Ppp2r5a	T	C	1: 191,104,863 (GRCm39)	D61G	probably benign	Het
Preb	G	T	5: 31,115,635 (GRCm39)	Y87*	probably null	Het
Rdh16f2	A	T	10: 127,712,758 (GRCm39)	N252I	probably benign	Het
Rida	T	C	15: 34,484,704 (GRCm39)		probably benign	Het
Rxrb	T	C	17: 34,251,821 (GRCm39)		probably benign	Het
Sis	T	A	3: 72,835,568 (GRCm39)	K931N	probably damaging	Het
Srcap	T	A	7: 127,158,994 (GRCm39)		probably benign	Het
Srp68	A	G	11: 116,137,495 (GRCm39)	S525P	probably damaging	Het
Susd2	C	T	10: 75,473,853 (GRCm39)	A581T	probably damaging	Het
Synj1	A	G	16: 90,735,141 (GRCm39)		probably benign	Het
Tesk2	A	G	4: 116,659,512 (GRCm39)		probably null	Het
Tmem41b	G	A	7: 109,577,945 (GRCm39)	T113I	possibly damaging	Het
Tmtc2	T	C	10: 105,205,907 (GRCm39)	I463V	probably benign	Het
Trak1	A	T	9: 121,277,904 (GRCm39)	D320V	probably damaging	Het
Ushbp1	A	T	8: 71,838,863 (GRCm39)	N570K	probably benign	Het
Vmn1r33	T	A	6: 66,588,817 (GRCm39)	I246F	possibly damaging	Het
Vmn2r54	A	C	7: 12,349,209 (GRCm39)	L791R	possibly damaging	Het
Washc1	A	T	17: 66,425,111 (GRCm39)	T372S	probably benign	Het
Zfp1005	A	G	2: 150,110,198 (GRCm39)	E296G	possibly damaging	Het

Other mutations in Syt12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00584:Syt12	APN	19	4,497,873 (GRCm39)	missense	probably damaging	0.99
IGL02045:Syt12	APN	19	4,497,762 (GRCm39)	missense	probably damaging	1.00
IGL02942:Syt12	APN	19	4,497,858 (GRCm39)	missense	probably benign	0.16
IGL03131:Syt12	APN	19	4,506,882 (GRCm39)	missense	probably benign
R1308:Syt12	UTSW	19	4,510,763 (GRCm39)	missense	probably damaging	0.99
R1830:Syt12	UTSW	19	4,506,911 (GRCm39)	missense	probably benign
R1858:Syt12	UTSW	19	4,497,825 (GRCm39)	missense	probably damaging	1.00
R4192:Syt12	UTSW	19	4,497,709 (GRCm39)	utr 3 prime	probably benign
R5646:Syt12	UTSW	19	4,506,569 (GRCm39)	missense	possibly damaging	0.54
R5785:Syt12	UTSW	19	4,501,022 (GRCm39)	missense	possibly damaging	0.95
R6079:Syt12	UTSW	19	4,506,896 (GRCm39)	missense	probably benign
R7017:Syt12	UTSW	19	4,510,895 (GRCm39)	splice site	probably null
R7043:Syt12	UTSW	19	4,501,049 (GRCm39)	missense	probably benign	0.04
R7137:Syt12	UTSW	19	4,503,978 (GRCm39)	missense	probably damaging	1.00
R7935:Syt12	UTSW	19	4,497,830 (GRCm39)	missense	probably benign	0.06
R8042:Syt12	UTSW	19	4,503,852 (GRCm39)	missense	probably damaging	0.98
R9468:Syt12	UTSW	19	4,497,744 (GRCm39)	missense	probably damaging	1.00
U15987:Syt12	UTSW	19	4,506,896 (GRCm39)	missense	probably benign
Z1177:Syt12	UTSW	19	4,503,956 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TTGAGGTCCCAAGAGGCAAC -3'
(R):5'- GTTACTGATAGAATGGGACTACGC -3'

Sequencing Primer
(F):5'- GTCCCAAGAGGCAACACTGG -3'
(R):5'- CCTGAGTCAAGAGATGCTGGTACTC -3'

Posted On

2016-11-21