Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02120:Stxbp6'

280577

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Stxbp6

Ensembl Gene

ENSMUSG00000046314

Gene Name

syntaxin binding protein 6 (amisyn)

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.125) question?

Stock #

IGL02120

Quality Score

Status

Chromosome

Chromosomal Location

44852484-45074709 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to T at 44902048 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000117366 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053768] [ENSMUST00000120531] [ENSMUST00000143376]

Predicted Effect

probably benign
Transcript: ENSMUST00000053768

SMART Domains

Protein: ENSMUSP00000052639
Gene: ENSMUSG00000046314

Domain	Start	End	E-Value	Type
Sec3-PIP2_bind	41	133	1.79e-36	SMART
Pfam:Synaptobrevin	153	210	2e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000120531

SMART Domains

Protein: ENSMUSP00000112551
Gene: ENSMUSG00000046314

Domain	Start	End	E-Value	Type
Sec3-PIP2_bind	41	133	1.79e-36	SMART
Pfam:Synaptobrevin	153	210	2.1e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130202

Predicted Effect

probably benign
Transcript: ENSMUST00000143376

SMART Domains

Protein: ENSMUSP00000117366
Gene: ENSMUSG00000046314

Domain	Start	End	E-Value	Type
Pfam:Sec3-PIP2_bind	41	89	3.8e-14	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] STXBP6 binds components of the SNARE complex (see MIM 603215) and may be involved in regulating SNARE complex formation (Scales et al., 2002 [PubMed 12145319]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012P22Rik	C	T	4: 144,418,411	R195H	probably benign	Het
Abcb11	T	C	2: 69,257,310	Y1037C	probably damaging	Het
Aldh16a1	G	A	7: 45,146,035	P400L	probably damaging	Het
Ankrd33b	T	C	15: 31,367,056	T113A	possibly damaging	Het
Aox3	T	A	1: 58,127,650	N177K	probably benign	Het
Arhgap29	T	A	3: 122,004,257	V532E	probably benign	Het
Brd8	C	T	18: 34,602,727	S899N	probably damaging	Het
Caskin1	G	T	17: 24,500,942	G401V	probably damaging	Het
Cemip	A	T	7: 83,951,563	M950K	probably damaging	Het
Chrd	T	C	16: 20,734,541	V211A	probably damaging	Het
Ckap2l	T	C	2: 129,285,622	N212S	possibly damaging	Het
Clip1	T	C	5: 123,647,883	D246G	probably damaging	Het
Dlst	T	C	12: 85,118,568	S82P	probably benign	Het
Dmxl1	T	A	18: 49,894,178	L2118M	possibly damaging	Het
Dnah7a	T	C	1: 53,495,717	K2795E	possibly damaging	Het
Enpp5	T	A	17: 44,080,845	M55K	probably benign	Het
Epdr1	A	T	13: 19,594,471	S50T	probably damaging	Het
Gm6169	G	T	13: 97,098,777		probably benign	Het
Gm7808	T	A	9: 19,928,017		probably benign	Het
Huwe1	T	A	X: 151,907,390	F2485I	possibly damaging	Het
Kcnb2	C	T	1: 15,709,861	T319M	probably damaging	Het
Lama1	G	A	17: 67,716,789	V60M	probably damaging	Het
Lingo3	A	T	10: 80,835,859	L79Q	probably damaging	Het
Magi2	T	A	5: 20,228,453		probably null	Het
Mob2	C	A	7: 142,010,298	V33L	possibly damaging	Het
Mus81	G	A	19: 5,485,633		probably benign	Het
Nup210l	G	A	3: 90,136,862	G490D	probably damaging	Het
Olfr702	A	C	7: 106,823,698	V276G	possibly damaging	Het
Pbp2	A	G	6: 135,309,818	V177A	probably damaging	Het
Pomt2	T	C	12: 87,111,552	D656G	probably benign	Het
Ppp2r1b	A	G	9: 50,861,769		probably benign	Het
Ptprq	T	C	10: 107,667,472	E775G	probably damaging	Het
Rad54l	T	C	4: 116,098,984	I549V	probably benign	Het
Ranbp10	T	C	8: 105,805,582	Y145C	probably damaging	Het
Runx1t1	A	T	4: 13,846,884	T223S	probably benign	Het
Syne2	A	G	12: 75,946,706	D2085G	probably damaging	Het
Szt2	C	T	4: 118,388,564	R1064Q	probably benign	Het
Taar3	A	G	10: 23,950,167	T204A	probably benign	Het
Tdpoz1	A	G	3: 93,670,443	S345P	probably damaging	Het
Tgm4	T	A	9: 123,046,529	I149N	probably damaging	Het
Tubal3	T	A	13: 3,930,675	I129N	probably damaging	Het
Vegfc	T	C	8: 54,181,401	F372L	possibly damaging	Het
Vmn2r9	G	A	5: 108,843,636	L620F	probably damaging	Het
Vwf	C	A	6: 125,616,034	L786M	probably benign	Het

Other mutations in Stxbp6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00820:Stxbp6	APN	12	44861346	missense	probably damaging	0.97
IGL02067:Stxbp6	APN	12	44861298	missense	probably damaging	1.00
IGL02186:Stxbp6	APN	12	44902023	missense	probably damaging	1.00
R0417:Stxbp6	UTSW	12	44902957	missense	probably damaging	1.00
R1772:Stxbp6	UTSW	12	44902870	missense	probably damaging	0.97
R1990:Stxbp6	UTSW	12	44855857	nonsense	probably null
R3939:Stxbp6	UTSW	12	44902858	critical splice donor site	probably null
R3942:Stxbp6	UTSW	12	44902858	critical splice donor site	probably null
R6614:Stxbp6	UTSW	12	44861275	missense	probably benign	0.11
R6787:Stxbp6	UTSW	12	44902996	splice site	probably null
R7162:Stxbp6	UTSW	12	44902880	missense	probably benign	0.13
R7264:Stxbp6	UTSW	12	44901999	missense	probably damaging	1.00
R7275:Stxbp6	UTSW	12	44902003	missense	probably benign	0.00
R7694:Stxbp6	UTSW	12	44902027	missense	probably damaging	0.97

Posted On

2015-04-16