Mutagenetix > Incidental Mutation

Incidental Mutation 'R1830:Syt12'

207283

Institutional Source

Beutler Lab

Gene Symbol

Syt12

Ensembl Gene

ENSMUSG00000049303

Gene Name

synaptotagmin XII

Synonyms

MMRRC Submission

039857-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1830 (G1)

Quality Score

183

Status

Not validated

Chromosome

Chromosomal Location

4495936-4527171 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4506911 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 78 (V78A)

Ref Sequence

ENSEMBL: ENSMUSP00000055237 (fasta)

Gene Model

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

AlphaFold

Q920N7

Predicted Effect

probably benign
Transcript: ENSMUST00000059295
AA Change: V78A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000055237
Gene: ENSMUSG00000049303
AA Change: V78A

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

unknown
Transcript: ENSMUST00000166191
AA Change: S62P

SMART Domains

Protein: ENSMUSP00000130418
Gene: ENSMUSG00000049303
AA Change: S62P

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: 97.5%
3x: 96.9%
10x: 95.2%
20x: 92.4%

Validation Efficiency

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,240,350 (GRCm39)	S738P	probably benign	Het
Abi3bp	C	A	16: 56,408,348 (GRCm39)	P261Q	probably damaging	Het
Adam19	A	G	11: 46,018,105 (GRCm39)	N389S	probably damaging	Het
Adgrv1	A	T	13: 81,637,196 (GRCm39)	V3415D	possibly damaging	Het
Ankrd33	A	T	15: 101,017,432 (GRCm39)	I282F	probably damaging	Het
Arhgap39	C	T	15: 76,619,383 (GRCm39)	V734M	probably damaging	Het
Arsg	T	C	11: 109,454,100 (GRCm39)		probably null	Het
Atp8b4	C	T	2: 126,245,301 (GRCm39)	G283R	probably benign	Het
B3galnt2	T	G	13: 14,166,119 (GRCm39)	L338*	probably null	Het
Cdc14a	A	T	3: 116,216,296 (GRCm39)	Y1*	probably null	Het
Ceacam16	T	C	7: 19,592,803 (GRCm39)	E35G	possibly damaging	Het
Cfap46	T	A	7: 139,220,323 (GRCm39)	D1244V	possibly damaging	Het
Chordc1	T	C	9: 18,223,274 (GRCm39)	Y245H	probably damaging	Het
Col6a6	C	A	9: 105,579,469 (GRCm39)	V1919F	probably damaging	Het
Colgalt1	T	C	8: 72,075,781 (GRCm39)	V476A	probably damaging	Het
Cped1	T	C	6: 22,237,727 (GRCm39)	C948R	probably damaging	Het
Cyfip2	T	C	11: 46,089,846 (GRCm39)	D1189G	probably damaging	Het
Cyp27b1	T	C	10: 126,884,952 (GRCm39)	Y72H	possibly damaging	Het
Dagla	A	G	19: 10,248,378 (GRCm39)	M94T	probably benign	Het
Dip2a	A	G	10: 76,153,797 (GRCm39)	S178P	probably damaging	Het
Dlec1	T	C	9: 118,967,858 (GRCm39)	V1220A	probably benign	Het
Dpysl2	T	C	14: 67,105,840 (GRCm39)		probably benign	Het
E2f6	T	C	12: 16,868,884 (GRCm39)	V69A	probably benign	Het
Fat3	T	C	9: 15,826,636 (GRCm39)	T4439A	probably benign	Het
Fn1	T	C	1: 71,663,418 (GRCm39)	I1023M	probably damaging	Het
Gabrr2	G	A	4: 33,077,481 (GRCm39)	V83M	probably damaging	Het
Gfral	T	C	9: 76,100,485 (GRCm39)	N318D	probably benign	Het
Gm5611	A	T	9: 16,942,073 (GRCm39)		noncoding transcript	Het
Gpat3	A	T	5: 101,041,046 (GRCm39)	M369L	probably benign	Het
Grik5	T	C	7: 24,745,726 (GRCm39)	D449G	possibly damaging	Het
Gucy2g	T	A	19: 55,211,362 (GRCm39)	T623S	possibly damaging	Het
H2-T22	T	C	17: 36,352,434 (GRCm39)	T164A	probably benign	Het
Herc1	T	A	9: 66,404,881 (GRCm39)	C4484S	possibly damaging	Het
Hira	T	C	16: 18,766,164 (GRCm39)	S659P	probably damaging	Het
Hoxa7	T	C	6: 52,194,307 (GRCm39)	T27A	possibly damaging	Het
Hoxd1	T	C	2: 74,593,866 (GRCm39)	S141P	probably damaging	Het
Kank1	C	A	19: 25,388,396 (GRCm39)	Q690K	probably benign	Het
Kera	A	G	10: 97,445,009 (GRCm39)	K123E	probably benign	Het
Kifbp	T	C	10: 62,395,106 (GRCm39)	Y512C	probably damaging	Het
Lepr	A	C	4: 101,592,874 (GRCm39)	Y163S	probably damaging	Het
Leprotl1	T	C	8: 34,607,922 (GRCm39)	I29V	probably benign	Het
Lrriq1	T	G	10: 102,997,620 (GRCm39)	T1332P	probably benign	Het
Mrps15	A	G	4: 125,949,200 (GRCm39)	K223E	probably damaging	Het
Mrps7	T	A	11: 115,497,811 (GRCm39)	N225K	probably benign	Het
Nav3	T	A	10: 109,659,184 (GRCm39)	D811V	probably damaging	Het
Ndst3	T	A	3: 123,342,587 (GRCm39)	R741S	probably damaging	Het
Nos3	T	C	5: 24,575,131 (GRCm39)	Y356H	probably damaging	Het
Nxpe3	A	G	16: 55,686,444 (GRCm39)	V188A	probably damaging	Het
Or13n4	T	C	7: 106,423,317 (GRCm39)	R139G	probably benign	Het
Or5p50	T	A	7: 107,422,578 (GRCm39)	I33F	probably benign	Het
Or8j3b	T	C	2: 86,205,487 (GRCm39)	K90E	possibly damaging	Het
Pdia4	A	T	6: 47,773,695 (GRCm39)	C551*	probably null	Het
Pex13	A	G	11: 23,605,513 (GRCm39)	F239S	probably damaging	Het
Pigq	A	G	17: 26,153,980 (GRCm39)	M273T	probably benign	Het
Plppr2	C	T	9: 21,859,047 (GRCm39)	P388L	probably damaging	Het
Polr3b	C	T	10: 84,528,786 (GRCm39)	Q737*	probably null	Het
Ppfibp1	T	C	6: 146,923,757 (GRCm39)		probably null	Het
Ppfibp2	C	A	7: 107,236,504 (GRCm39)	D17E	probably damaging	Het
Pramel34	A	T	5: 93,785,545 (GRCm39)	I245K	probably benign	Het
Prr35	T	C	17: 26,165,691 (GRCm39)	D532G	possibly damaging	Het
Ptpn13	A	G	5: 103,691,325 (GRCm39)	D1064G	probably benign	Het
Qtrt2	A	T	16: 43,692,018 (GRCm39)	S168T	probably damaging	Het
Rbp3	T	C	14: 33,676,601 (GRCm39)	V183A	probably benign	Het
Shprh	T	C	10: 11,062,655 (GRCm39)		probably null	Het
Slc39a10	T	C	1: 46,875,230 (GRCm39)	H24R	probably damaging	Het
Slc7a13	A	T	4: 19,819,046 (GRCm39)	H82L	probably benign	Het
Sptbn2	A	G	19: 4,782,569 (GRCm39)	I502V	probably benign	Het
Syne2	C	T	12: 76,156,636 (GRCm39)	R6811C	probably damaging	Het
Tbck	T	A	3: 132,543,772 (GRCm39)	D874E	probably benign	Het
Tesc	A	T	5: 118,184,394 (GRCm39)	I25L	probably damaging	Het
Thoc5	T	G	11: 4,864,608 (GRCm39)	D351E	probably benign	Het
Tor1aip1	A	T	1: 155,883,308 (GRCm39)	M180K	probably damaging	Het
Trps1	T	C	15: 50,524,532 (GRCm39)	S842G	probably damaging	Het
Unc79	A	T	12: 103,100,737 (GRCm39)	T1858S	probably damaging	Het
Vmn1r193	T	C	13: 22,403,561 (GRCm39)	T144A	probably benign	Het
Vwa8	T	C	14: 79,318,576 (GRCm39)	F1046S	probably benign	Het
Wdr26	A	T	1: 181,019,340 (GRCm39)	W346R	probably damaging	Het
Zfp740	T	A	15: 102,116,336 (GRCm39)	V22E	probably damaging	Het
Zw10	C	A	9: 48,981,041 (GRCm39)	S480R	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
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
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'- CGACTGTGACTTTCGGAGAG -3'
(R):5'- TCCATTCTGGTTAAGGGGAGAAAAC -3'

Sequencing Primer
(F):5'- ACTGTGACTTTCGGAGAGTACCATAG -3'
(R):5'- TAATCCCAGCATTCGTGGAG -3'

Posted On

2014-06-23