Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01484:Stx12'

88847

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 #

IGL01484

Quality Score

Status

Chromosome

Chromosomal Location

132581375-132611769 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 132611673 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 2 (S2P)

Ref Sequence

ENSEMBL: ENSMUSP00000030698 (fasta)

Gene Model

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

AlphaFold

Q9ER00

Predicted Effect

probably damaging
Transcript: ENSMUST00000030698
AA Change: S2P

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000030698
Gene: ENSMUSG00000028879
AA Change: S2P

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: ENSMUST00000117591

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd36	A	G	11: 5,579,006 (GRCm39)	H90R	possibly damaging	Het
Arsj	A	G	3: 126,158,685 (GRCm39)	D88G	probably damaging	Het
Clca4b	C	T	3: 144,633,996 (GRCm39)	V140I	probably benign	Het
Dagla	A	C	19: 10,225,884 (GRCm39)	L760R	possibly damaging	Het
Dnah1	T	C	14: 31,021,897 (GRCm39)	E1202G	probably damaging	Het
Hdac9	T	C	12: 34,487,164 (GRCm39)	H100R	probably damaging	Het
Hhip	T	C	8: 80,723,412 (GRCm39)	H414R	probably damaging	Het
Hk2	G	A	6: 82,713,711 (GRCm39)	T457M	probably damaging	Het
Iapp	A	G	6: 142,249,165 (GRCm39)	T73A	possibly damaging	Het
Ifit1	A	G	19: 34,626,243 (GRCm39)	N460D	probably damaging	Het
Itpa	T	C	2: 130,514,019 (GRCm39)	F77L	probably benign	Het
Knop1	T	C	7: 118,452,032 (GRCm39)	D229G	probably damaging	Het
Lrrc32	T	C	7: 98,143,442 (GRCm39)	I5T	probably damaging	Het
Myo7a	C	T	7: 97,734,629 (GRCm39)	V622M	probably damaging	Het
N4bp1	T	C	8: 87,571,400 (GRCm39)	E866G	probably damaging	Het
Or2t48	A	T	11: 58,420,222 (GRCm39)	W197R	probably benign	Het
Palmd	G	A	3: 116,746,794 (GRCm39)		probably benign	Het
Pcbp4	A	G	9: 106,337,848 (GRCm39)		probably null	Het
Pigf	T	C	17: 87,316,308 (GRCm39)	I157V	probably benign	Het
Pot1b	G	A	17: 56,002,160 (GRCm39)	T138M	possibly damaging	Het
Prl7a2	T	A	13: 27,843,191 (GRCm39)	D204V	probably damaging	Het
Rfc3	A	T	5: 151,566,401 (GRCm39)	D349E	probably benign	Het
Sarm1	A	T	11: 78,381,839 (GRCm39)	C215S	probably damaging	Het
Serpine1	T	C	5: 137,092,326 (GRCm39)		probably benign	Het
Strip1	A	G	3: 107,520,575 (GRCm39)	V825A	probably damaging	Het
Sycp1	A	C	3: 102,823,183 (GRCm39)	S311R	probably benign	Het
Tfpi	A	T	2: 84,275,169 (GRCm39)	C139*	probably null	Het
Tmc5	T	A	7: 118,256,010 (GRCm39)	I695N	probably damaging	Het
Tmem169	T	C	1: 72,340,263 (GRCm39)	V231A	probably damaging	Het
Ttbk2	T	G	2: 120,570,314 (GRCm39)	S1211R	possibly damaging	Het
Ubr3	C	T	2: 69,851,888 (GRCm39)	R1855*	probably null	Het
Urb1	A	T	16: 90,574,448 (GRCm39)	S878T	probably benign	Het
Vmn1r174	T	A	7: 23,453,749 (GRCm39)	Y138*	probably null	Het
Zfp282	A	G	6: 47,867,054 (GRCm39)	N214D	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
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

2013-11-18