Mutagenetix > Incidental Mutation

Incidental Mutation 'R1417:Stx12'

159848

Institutional Source

Beutler Lab

Gene Symbol

Stx12

Ensembl Gene

ENSMUSG00000028879

Gene Name

syntaxin 12

Synonyms

syntaxin 13, Stx13

MMRRC Submission

039473-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.471) question?

Stock #

R1417 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

132581375-132611769 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 132587853 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000030698 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030698]

AlphaFold

Q9ER00

Predicted Effect

probably null
Transcript: ENSMUST00000030698

SMART Domains

Protein: ENSMUSP00000030698
Gene: ENSMUSG00000028879

Domain	Start	End	E-Value	Type
SynN	14	129	2.7e-32	SMART
t_SNARE	173	240	4.07e-20	SMART
transmembrane domain	251	273	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137109

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.8%
20x: 87.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp13a5	A	G	16: 29,117,053 (GRCm39)	V565A	probably benign	Het
Atp6v1b1	T	C	6: 83,730,862 (GRCm39)	S196P	probably damaging	Het
Car9	G	T	4: 43,512,439 (GRCm39)		probably null	Het
Ces1a	C	T	8: 93,749,044 (GRCm39)	D456N	probably benign	Het
Clu	T	A	14: 66,212,420 (GRCm39)	Y124*	probably null	Het
Cnnm1	A	G	19: 43,458,162 (GRCm39)	E658G	probably benign	Het
Dnah9	T	C	11: 65,846,573 (GRCm39)	E2913G	probably damaging	Het
Edc4	G	A	8: 106,614,487 (GRCm39)		probably null	Het
Enox1	C	T	14: 77,723,445 (GRCm39)		probably benign	Het
G6pc2	T	C	2: 69,053,312 (GRCm39)	V122A	probably damaging	Het
Galns	T	C	8: 123,311,652 (GRCm39)	S453G	possibly damaging	Het
Gm12185	A	C	11: 48,798,669 (GRCm39)	V608G	probably damaging	Het
Hbq1a	A	G	11: 32,250,722 (GRCm39)	D135G	probably benign	Het
Hspg2	A	G	4: 137,244,947 (GRCm39)	T891A	probably benign	Het
Ift172	T	C	5: 31,413,993 (GRCm39)	Y1445C	probably damaging	Het
Ipo8	C	T	6: 148,719,550 (GRCm39)	D132N	probably benign	Het
Klhl11	T	C	11: 100,363,115 (GRCm39)	E147G	probably benign	Het
Kmt2d	A	T	15: 98,764,311 (GRCm39)	V41D	probably damaging	Het
Lrp1b	T	C	2: 40,894,653 (GRCm39)	I2306V	probably benign	Het
Lrp5	A	G	19: 3,636,425 (GRCm39)	V1514A	probably benign	Het
Lrrtm2	A	T	18: 35,347,011 (GRCm39)	I97N	probably damaging	Het
Mtmr3	C	A	11: 4,437,923 (GRCm39)	V844L	probably benign	Het
Myh8	A	G	11: 67,197,011 (GRCm39)	E1832G	probably damaging	Het
Or4n5	T	A	14: 50,133,020 (GRCm39)	R80*	probably null	Het
Pcdhb16	A	G	18: 37,611,180 (GRCm39)	T47A	probably benign	Het
Pfkp	T	C	13: 6,655,755 (GRCm39)	K293E	probably benign	Het
Phlpp2	G	T	8: 110,667,313 (GRCm39)	E1281*	probably null	Het
Prss23	T	A	7: 89,159,392 (GRCm39)	T226S	probably damaging	Het
Slc8a1	T	G	17: 81,715,709 (GRCm39)	M775L	probably damaging	Het
Syt11	A	T	3: 88,669,289 (GRCm39)	I201N	probably damaging	Het
Ttc21a	A	G	9: 119,783,327 (GRCm39)	N543S	probably damaging	Het
Usf3	A	G	16: 44,037,812 (GRCm39)	N764S	probably benign	Het
Xylb	A	G	9: 119,193,606 (GRCm39)	D100G	probably benign	Het
Zfp423	T	C	8: 88,500,284 (GRCm39)		probably null	Het
Zkscan16	T	C	4: 58,952,377 (GRCm39)	V225A	probably benign	Het

Other mutations in Stx12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01324:Stx12	APN	4	132,590,576 (GRCm39)	missense	probably benign	0.06
IGL01484:Stx12	APN	4	132,611,673 (GRCm39)	missense	probably damaging	0.99
IGL03073:Stx12	APN	4	132,585,760 (GRCm39)	missense	probably benign	0.00
IGL03090:Stx12	APN	4	132,590,540 (GRCm39)	missense	probably benign
R0433:Stx12	UTSW	4	132,585,741 (GRCm39)	missense	probably damaging	1.00
R0725:Stx12	UTSW	4	132,584,701 (GRCm39)	splice site	probably benign
R1404:Stx12	UTSW	4	132,598,960 (GRCm39)	missense	probably benign
R1404:Stx12	UTSW	4	132,598,960 (GRCm39)	missense	probably benign
R1711:Stx12	UTSW	4	132,585,788 (GRCm39)	missense	probably damaging	1.00
R2100:Stx12	UTSW	4	132,587,913 (GRCm39)	missense	possibly damaging	0.93
R3085:Stx12	UTSW	4	132,584,672 (GRCm39)	missense	probably damaging	1.00
R7272:Stx12	UTSW	4	132,584,687 (GRCm39)	missense	possibly damaging	0.78

Predicted Primers

PCR Primer
(F):5'- AGAACCCTGCTTACCCTGGAGATAG -3'
(R):5'- GCCCACGGGGATTTTGTACTGATAG -3'

Sequencing Primer
(F):5'- gagagatggctcagcgg -3'
(R):5'- GGTCTTGAGTAGCATCTGCC -3'

Posted On

2014-03-14