Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01324:Stx12'

74170

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 #

IGL01324

Quality Score

Status

Chromosome

Chromosomal Location

132581375-132611769 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 132590576 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 107 (M107K)

Ref Sequence

ENSEMBL: ENSMUSP00000030698 (fasta)

Gene Model

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

AlphaFold

Q9ER00

Predicted Effect

probably benign
Transcript: ENSMUST00000030698
AA Change: M107K

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000030698
Gene: ENSMUSG00000028879
AA Change: M107K

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	G	A	19: 8,980,396 (GRCm39)	G560D	probably damaging	Het
Ap1g1	T	A	8: 110,559,414 (GRCm39)	D239E	possibly damaging	Het
Ap2a1	T	A	7: 44,555,120 (GRCm39)	T482S	probably damaging	Het
BC004004	T	C	17: 29,501,225 (GRCm39)	L58P	probably damaging	Het
Camsap1	C	A	2: 25,823,635 (GRCm39)	V1472L	possibly damaging	Het
Ces3b	A	T	8: 105,819,884 (GRCm39)	E569V	probably damaging	Het
Commd6	G	A	14: 101,877,738 (GRCm39)		probably benign	Het
Ddx54	A	G	5: 120,761,703 (GRCm39)	D493G	probably benign	Het
Dync1h1	C	T	12: 110,593,299 (GRCm39)	R1189C	probably damaging	Het
Ern2	T	A	7: 121,782,413 (GRCm39)	I68F	possibly damaging	Het
Eya4	A	G	10: 22,992,449 (GRCm39)		probably null	Het
Gda	A	T	19: 21,387,250 (GRCm39)	I325K	probably damaging	Het
Gmnn	T	C	13: 24,936,105 (GRCm39)	T190A	probably benign	Het
Hdac4	G	A	1: 91,887,137 (GRCm39)	P801S	probably damaging	Het
Hnrnph3	A	T	10: 62,853,903 (GRCm39)	*72K	probably null	Het
Hoxd12	A	T	2: 74,505,480 (GRCm39)	N17I	probably damaging	Het
Incenp	G	A	19: 9,861,092 (GRCm39)	R497C	unknown	Het
Iqsec1	C	A	6: 90,666,685 (GRCm39)	R584L	probably damaging	Het
Kcnip1	A	G	11: 33,595,603 (GRCm39)	M1T	probably null	Het
Kcnu1	T	A	8: 26,339,735 (GRCm39)	S18T	probably benign	Het
Lepr	T	A	4: 101,625,265 (GRCm39)	D473E	probably benign	Het
Nfkbiz	T	C	16: 55,636,167 (GRCm39)	T564A	probably damaging	Het
Nsd3	C	T	8: 26,152,836 (GRCm39)	T392I	probably damaging	Het
Or10a5	T	C	7: 106,636,054 (GRCm39)	S231P	probably damaging	Het
Or10w1	T	C	19: 13,632,297 (GRCm39)	I163T	probably damaging	Het
P4ha2	A	G	11: 54,010,984 (GRCm39)	D333G	probably damaging	Het
Parg	T	C	14: 32,018,142 (GRCm39)		probably benign	Het
Psmc2	G	A	5: 22,005,007 (GRCm39)		probably null	Het
Rnf213	A	G	11: 119,338,063 (GRCm39)	Y3354C	probably damaging	Het
Siglec1	T	G	2: 130,927,461 (GRCm39)	D115A	probably damaging	Het
Slit3	G	T	11: 35,501,529 (GRCm39)	G421V	probably damaging	Het
Srgap3	T	A	6: 112,716,358 (GRCm39)	H590L	probably damaging	Het
Stk36	A	C	1: 74,664,769 (GRCm39)	T628P	possibly damaging	Het
Syne2	G	T	12: 76,090,526 (GRCm39)	V5105F	probably damaging	Het
Tecta	T	C	9: 42,256,727 (GRCm39)	S1650G	probably damaging	Het
Tlr1	T	C	5: 65,082,522 (GRCm39)	N685S	probably damaging	Het
Trio	A	G	15: 27,905,409 (GRCm39)	V60A	probably benign	Het
Ttyh3	G	A	5: 140,617,268 (GRCm39)	R334W	probably benign	Het
Ube2u	A	G	4: 100,336,422 (GRCm39)	E15G	possibly damaging	Het
Ush2a	G	T	1: 188,581,189 (GRCm39)	V3690L	probably benign	Het
Xab2	A	G	8: 3,671,232 (GRCm39)	V16A	possibly damaging	Het

Other mutations in Stx12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2013-10-07