Mutagenetix > Incidental Mutation

Incidental Mutation 'R7017:Syt12'

568433

Institutional Source

Beutler Lab

Gene Symbol

Syt12

Ensembl Gene

ENSMUSG00000049303

Gene Name

synaptotagmin XII

Synonyms

MMRRC Submission

045118-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7017 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4495936-4527171 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 4510895 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000130418 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059295] [ENSMUST00000166191]

AlphaFold

Q920N7

Predicted Effect

probably null
Transcript: ENSMUST00000059295

SMART Domains

Protein: ENSMUSP00000055237
Gene: ENSMUSG00000049303

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

probably null
Transcript: ENSMUST00000166191

SMART Domains

Protein: ENSMUSP00000130418
Gene: ENSMUSG00000049303

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC
low complexity region	45	55	N/A	INTRINSIC

Coding Region Coverage

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

Validation Efficiency

100% (75/75)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410137M14Rik	A	G	17: 37,288,926 (GRCm39)		probably benign	Het
Acot3	A	T	12: 84,100,077 (GRCm39)		probably benign	Het
Add3	T	A	19: 53,222,284 (GRCm39)	V297E	possibly damaging	Het
Arfgap1	C	G	2: 180,618,097 (GRCm39)		probably null	Het
Cacna1i	T	C	15: 80,264,671 (GRCm39)	F1500L	probably damaging	Het
Cacna1s	T	C	1: 136,023,596 (GRCm39)	I945T	probably damaging	Het
Ccdc180	T	A	4: 45,940,934 (GRCm39)	N1334K	possibly damaging	Het
Cd5l	C	A	3: 87,273,368 (GRCm39)	Y112*	probably null	Het
Cracd	GAGGCAGCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG	GAGACAACGCGAGGCCGAGAGGCAGG	5: 77,004,795 (GRCm39)		probably benign	Het
Cyp2d40	A	T	15: 82,644,234 (GRCm39)	F297Y	unknown	Het
Ddx4	C	T	13: 112,738,022 (GRCm39)	V546I	probably damaging	Het
Dgkg	T	C	16: 22,391,463 (GRCm39)	M332V	probably benign	Het
Dnah12	T	C	14: 26,456,835 (GRCm39)	I867T	probably benign	Het
Dnah2	T	A	11: 69,382,373 (GRCm39)	K1246*	probably null	Het
Drd2	G	A	9: 49,312,129 (GRCm39)	V161I	probably benign	Het
Dsp	A	G	13: 38,370,683 (GRCm39)	D862G	probably benign	Het
Ephx4	T	C	5: 107,553,980 (GRCm39)	F10S	probably damaging	Het
Fabp9	C	A	3: 10,259,756 (GRCm39)	A76S	possibly damaging	Het
Fat4	G	A	3: 38,945,692 (GRCm39)	M1528I	probably benign	Het
Fbxl12	A	G	9: 20,529,616 (GRCm39)	S84P	unknown	Het
Fbxo40	T	C	16: 36,790,732 (GRCm39)	D126G	probably damaging	Het
Fpr1	C	T	17: 18,097,654 (GRCm39)	V112I	probably benign	Het
Frem2	T	C	3: 53,427,023 (GRCm39)	N2975S	probably benign	Het
Gask1a	T	C	9: 121,795,052 (GRCm39)		probably null	Het
Gm7945	T	C	14: 41,105,610 (GRCm39)	Y156C		Het
Gnpat	T	C	8: 125,590,014 (GRCm39)	V13A	probably benign	Het
Gpx5	G	A	13: 21,475,561 (GRCm39)	P55L	probably damaging	Het
Hbp1	A	G	12: 31,993,852 (GRCm39)	S59P	probably damaging	Het
Ighv1-36	T	A	12: 114,843,533 (GRCm39)	D109V	probably damaging	Het
Iqcf5	T	A	9: 106,392,863 (GRCm39)	I40N	possibly damaging	Het
Kcnma1	T	G	14: 23,544,711 (GRCm39)	I484L	possibly damaging	Het
Kera	A	T	10: 97,444,939 (GRCm39)	R99S	possibly damaging	Het
Kif3b	T	A	2: 153,171,644 (GRCm39)	S707R	possibly damaging	Het
Lilra6	G	T	7: 3,911,707 (GRCm39)	T317N	possibly damaging	Het
Lrrc15	C	T	16: 30,091,780 (GRCm39)	E520K	probably benign	Het
Lrrc34	C	T	3: 30,699,465 (GRCm39)		probably null	Het
Lvrn	A	G	18: 46,983,745 (GRCm39)	T163A	probably benign	Het
Met	T	A	6: 17,491,286 (GRCm39)	L16*	probably null	Het
Mpzl2	G	T	9: 44,958,587 (GRCm39)	D108Y	probably benign	Het
Mrgprb2	T	A	7: 48,202,585 (GRCm39)	I47F	probably benign	Het
Muc5ac	G	C	7: 141,363,424 (GRCm39)		probably benign	Het
Mybphl	T	A	3: 108,282,154 (GRCm39)	V128E	probably damaging	Het
Nckap5	A	T	1: 126,030,398 (GRCm39)	D231E	probably damaging	Het
Or5g23	T	A	2: 85,438,673 (GRCm39)	M194L	probably benign	Het
Orm1	T	A	4: 63,263,448 (GRCm39)	I87K	probably benign	Het
Pdgfrb	C	T	18: 61,214,076 (GRCm39)	P954S	probably benign	Het
Pdzd8	G	T	19: 59,333,784 (GRCm39)	S79*	probably null	Het
Pdzd9	T	A	7: 120,262,225 (GRCm39)	H79L	probably benign	Het
Plcg1	A	T	2: 160,600,017 (GRCm39)	I926F	probably damaging	Het
Plec	A	T	15: 76,057,741 (GRCm39)	F4078L	probably damaging	Het
Plek	G	A	11: 17,002,220 (GRCm39)		probably benign	Het
Pogz	T	C	3: 94,761,335 (GRCm39)	I25T	probably damaging	Het
Ppfia3	A	T	7: 45,008,224 (GRCm39)	D215E	probably benign	Het
Psg22	C	A	7: 18,458,366 (GRCm39)	S352R	probably benign	Het
Ptchd4	A	G	17: 42,813,626 (GRCm39)	Y509C	probably damaging	Het
Ralgapb	C	A	2: 158,290,257 (GRCm39)	N389K	probably benign	Het
Rdh1	A	G	10: 127,598,906 (GRCm39)	D129G	probably benign	Het
Rimbp3	A	G	16: 17,027,610 (GRCm39)	T345A	probably benign	Het
S100a14	T	C	3: 90,434,602 (GRCm39)		probably null	Het
Scamp1	T	A	13: 94,361,423 (GRCm39)	R152S	probably damaging	Het
Slc30a2	G	A	4: 134,074,726 (GRCm39)	R161Q	probably damaging	Het
Srf	T	C	17: 46,861,830 (GRCm39)	T383A	probably benign	Het
St6galnac5	T	C	3: 152,552,040 (GRCm39)	M176V	probably damaging	Het
St8sia1	C	A	6: 142,813,632 (GRCm39)	V177F	probably damaging	Het
Tanc2	A	G	11: 105,813,934 (GRCm39)	I1793V	probably benign	Het
Tas2r123	A	G	6: 132,824,513 (GRCm39)	I137V	probably benign	Het
Tenm2	T	A	11: 36,062,236 (GRCm39)	Y543F	probably damaging	Het
Tent5b	T	C	4: 133,213,545 (GRCm39)	S139P	possibly damaging	Het
Tgfbr1	T	C	4: 47,410,728 (GRCm39)	I488T	probably damaging	Het
Tgm1	T	A	14: 55,942,398 (GRCm39)	Y651F	possibly damaging	Het
Thbs3	A	T	3: 89,131,722 (GRCm39)	D698V	probably damaging	Het
Tpra1	T	A	6: 88,885,294 (GRCm39)	I82N	probably damaging	Het
Ubr4	T	A	4: 139,120,401 (GRCm39)	D275E	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Wwp1	T	C	4: 19,623,124 (GRCm39)	Y787C	probably damaging	Het
Znfx1	T	C	2: 166,890,454 (GRCm39)	S677G	probably 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
R5769:Syt12	UTSW	19	4,501,072 (GRCm39)	missense	probably damaging	1.00
R5785:Syt12	UTSW	19	4,501,022 (GRCm39)	missense	possibly damaging	0.95
R6079:Syt12	UTSW	19	4,506,896 (GRCm39)	missense	probably benign
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'- CCTGTAGTCGTAATTAGGGAACG -3'
(R):5'- TTCGTAAGTATCACTAGGTAGAGTG -3'

Sequencing Primer
(F):5'- TAGTCGTAATTAGGGAACGGGGAG -3'
(R):5'- TGTGACACAAGGATTCCCTG -3'

Posted On

2019-07-19