Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03073:Stx12'

417570

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Stx12

Ensembl Gene

ENSMUSG00000028879

Gene Name

syntaxin 12

Synonyms

syntaxin 13, Stx13

Accession Numbers

Essential gene?

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

Stock #

IGL03073

Quality Score

Status

Chromosome

Chromosomal Location

132581375-132611769 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 132585760 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 207 (M207V)

Ref Sequence

ENSEMBL: ENSMUSP00000030698 (fasta)

Gene Model

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

AlphaFold

Q9ER00

Predicted Effect

probably benign
Transcript: ENSMUST00000030698
AA Change: M207V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000030698
Gene: ENSMUSG00000028879
AA Change: M207V

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933440M02Rik	T	C	7: 124,930,735 (GRCm39)		noncoding transcript	Het
Actr6	A	G	10: 89,562,556 (GRCm39)	S108P	probably damaging	Het
Adam34	A	T	8: 44,103,940 (GRCm39)	N568K	probably damaging	Het
Anpep	A	G	7: 79,488,703 (GRCm39)	L408P	probably damaging	Het
Atp13a1	T	C	8: 70,251,152 (GRCm39)	V459A	probably damaging	Het
Atp2b1	C	T	10: 98,835,713 (GRCm39)	T486M	probably damaging	Het
Cdc42bpa	T	A	1: 179,921,941 (GRCm39)		probably benign	Het
Espnl	T	C	1: 91,272,278 (GRCm39)	I502T	probably damaging	Het
Fancm	T	C	12: 65,148,406 (GRCm39)	Y674H	probably damaging	Het
Gnaq	T	A	19: 16,293,470 (GRCm39)	N137K	probably benign	Het
Igf1r	T	A	7: 67,864,791 (GRCm39)	D1196E	probably damaging	Het
Insrr	A	G	3: 87,717,245 (GRCm39)		probably benign	Het
Lypd9	A	T	11: 58,338,277 (GRCm39)	D38E	probably damaging	Het
Mcf2l	C	A	8: 13,050,004 (GRCm39)	H313N	probably damaging	Het
Mdh1b	C	T	1: 63,760,646 (GRCm39)		probably null	Het
Mrc1	G	A	2: 14,310,153 (GRCm39)	V805I	probably damaging	Het
Ncam2	T	G	16: 81,418,235 (GRCm39)	D763E	possibly damaging	Het
Ncapg2	T	G	12: 116,415,894 (GRCm39)	H1091Q	probably benign	Het
Or5b112	T	G	19: 13,319,386 (GRCm39)	I88R	probably benign	Het
Or8h8	A	G	2: 86,753,697 (GRCm39)	Y60H	probably damaging	Het
Pcdh18	T	A	3: 49,707,816 (GRCm39)	D886V	possibly damaging	Het
Pdlim4	A	G	11: 53,954,467 (GRCm39)	V21A	probably damaging	Het
Safb2	A	G	17: 56,878,289 (GRCm39)	S24P	probably benign	Het
Sec16a	A	G	2: 26,329,195 (GRCm39)	M940T	probably benign	Het
Snx14	A	G	9: 88,304,949 (GRCm39)		probably null	Het
Sox1	T	C	8: 12,446,625 (GRCm39)	W89R	probably damaging	Het
Tex14	A	G	11: 87,426,435 (GRCm39)	T1154A	probably damaging	Het
Tmcc3	T	G	10: 94,414,813 (GRCm39)	S172A	probably benign	Het
Tnc	T	A	4: 63,889,461 (GRCm39)	I1773F	possibly damaging	Het
Tshz3	A	T	7: 36,470,170 (GRCm39)	N720Y	probably damaging	Het
Usp19	G	A	9: 108,373,002 (GRCm39)		probably benign	Het
Vmn1r170	A	C	7: 23,306,273 (GRCm39)	Q225P	probably damaging	Het
Vmn2r89	A	G	14: 51,693,528 (GRCm39)	I293V	possibly damaging	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
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
R1417:Stx12	UTSW	4	132,587,853 (GRCm39)	critical splice donor site	probably null
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

Posted On

2016-08-02