Mutagenetix > Incidental Mutation

Incidental Mutation 'R6787:Stxbp6'

532447

Institutional Source

Beutler Lab

Gene Symbol

Stxbp6

Ensembl Gene

ENSMUSG00000046314

Gene Name

syntaxin binding protein 6 (amisyn)

Synonyms

MMRRC Submission

044901-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R6787 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44899267-45121248 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 44949779 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000117366 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
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 null
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 null
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

probably null
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

probably null
Transcript: ENSMUST00000143376

SMART Domains

Protein: ENSMUSP00000117366
Gene: ENSMUSG00000046314

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

Predicted Effect

probably null
Transcript: ENSMUST00000143376

SMART Domains

Protein: ENSMUSP00000117366
Gene: ENSMUSG00000046314

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.3%

Validation Efficiency

96% (51/53)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700097O09Rik	G	A	12: 55,126,768 (GRCm39)	T32I	probably benign	Het
4930486L24Rik	T	A	13: 61,000,922 (GRCm39)	I205L	probably benign	Het
Aatk	C	T	11: 119,901,508 (GRCm39)	V963M	probably damaging	Het
Adra1b	C	A	11: 43,726,242 (GRCm39)	R225L	probably damaging	Het
Adrb1	T	C	19: 56,711,021 (GRCm39)	V73A	probably damaging	Het
Akt3	A	T	1: 176,877,756 (GRCm39)	Y337*	probably null	Het
BC035947	G	T	1: 78,475,527 (GRCm39)	P335Q	possibly damaging	Het
C2cd3	T	C	7: 100,104,553 (GRCm39)	F2189L	probably benign	Het
Capn9	A	G	8: 125,342,924 (GRCm39)	I635V	probably benign	Het
Cep55	T	A	19: 38,046,374 (GRCm39)	D42E	probably benign	Het
Cftr	T	A	6: 18,274,607 (GRCm39)	Y878*	probably null	Het
Clpb	A	T	7: 101,312,866 (GRCm39)		probably benign	Het
Cpeb3	T	C	19: 37,022,089 (GRCm39)	I569V	possibly damaging	Het
Cpne6	A	T	14: 55,752,701 (GRCm39)	D297V	probably damaging	Het
Ddhd1	T	C	14: 45,894,976 (GRCm39)	T165A	probably benign	Het
Fam98b	T	C	2: 117,093,402 (GRCm39)		probably null	Het
Frem2	T	C	3: 53,561,744 (GRCm39)	N921S	probably benign	Het
Gbf1	T	A	19: 46,260,211 (GRCm39)	V1039E	probably benign	Het
Gmip	A	G	8: 70,266,436 (GRCm39)	E212G	probably damaging	Het
Gpcpd1	C	T	2: 132,379,758 (GRCm39)		probably benign	Het
Gtf2ird1	A	T	5: 134,392,766 (GRCm39)	N796K	probably damaging	Het
Hadhb	T	C	5: 30,360,247 (GRCm39)		probably benign	Het
Itga4	T	A	2: 79,119,609 (GRCm39)	S472T	probably damaging	Het
Kcna4	G	A	2: 107,125,670 (GRCm39)	E135K	possibly damaging	Het
Kmt2c	G	T	5: 25,480,737 (GRCm39)		probably null	Het
Lama1	T	C	17: 68,091,020 (GRCm39)	I1620T	unknown	Het
Lins1	A	G	7: 66,363,902 (GRCm39)	E594G	probably benign	Het
Lrrc38	T	A	4: 143,096,364 (GRCm39)	M225K	probably benign	Het
Mphosph9	A	G	5: 124,399,090 (GRCm39)	I975T	probably damaging	Het
Mrgprh	T	C	17: 13,095,874 (GRCm39)	F38S	probably benign	Het
Myo1h	G	A	5: 114,458,714 (GRCm39)	G150R	probably damaging	Het
Oas2	T	G	5: 120,876,863 (GRCm39)	I391L	possibly damaging	Het
Or4a70	T	A	2: 89,324,378 (GRCm39)	R93*	probably null	Het
Or5p72	T	C	7: 108,021,889 (GRCm39)	I37T	possibly damaging	Het
Or6c3b	T	A	10: 129,527,391 (GRCm39)	D173V	possibly damaging	Het
Or7e178	T	C	9: 20,247,221 (GRCm39)	D14G	probably benign	Het
Pdcd5	T	C	7: 35,342,063 (GRCm39)	T182A	probably damaging	Het
Pdlim7	T	C	13: 55,656,810 (GRCm39)	D48G	probably damaging	Het
Polr3b	A	C	10: 84,464,489 (GRCm39)		probably null	Het
Psmd5	C	T	2: 34,747,649 (GRCm39)		probably null	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Homo
Sdhb	T	C	4: 140,703,501 (GRCm39)	Y208H	probably damaging	Het
Serinc5	G	A	13: 92,842,740 (GRCm39)	V397I	possibly damaging	Het
Sik2	A	T	9: 50,909,834 (GRCm39)	M73K	possibly damaging	Het
Slc41a1	A	G	1: 131,770,487 (GRCm39)		probably null	Het
Slco1a1	T	C	6: 141,882,213 (GRCm39)	I119V	probably benign	Het
Srd5a1	T	C	13: 69,759,418 (GRCm39)		probably benign	Het
Stab2	T	C	10: 86,754,948 (GRCm39)	I1111V	probably benign	Het
Tbc1d19	A	G	5: 53,992,591 (GRCm39)		probably null	Het
Tnxb	A	T	17: 34,929,710 (GRCm39)	T2815S	probably benign	Het
Txnip	T	A	3: 96,467,623 (GRCm39)	I363N	probably damaging	Het
Zfp442	A	T	2: 150,251,499 (GRCm39)	N134K	possibly damaging	Het

Other mutations in Stxbp6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00820:Stxbp6	APN	12	44,908,129 (GRCm39)	missense	probably damaging	0.97
IGL02067:Stxbp6	APN	12	44,908,081 (GRCm39)	missense	probably damaging	1.00
IGL02120:Stxbp6	APN	12	44,948,831 (GRCm39)	unclassified	probably benign
IGL02186:Stxbp6	APN	12	44,948,806 (GRCm39)	missense	probably damaging	1.00
R0417:Stxbp6	UTSW	12	44,949,740 (GRCm39)	missense	probably damaging	1.00
R1772:Stxbp6	UTSW	12	44,949,653 (GRCm39)	missense	probably damaging	0.97
R1990:Stxbp6	UTSW	12	44,902,640 (GRCm39)	nonsense	probably null
R3939:Stxbp6	UTSW	12	44,949,641 (GRCm39)	critical splice donor site	probably null
R3942:Stxbp6	UTSW	12	44,949,641 (GRCm39)	critical splice donor site	probably null
R6614:Stxbp6	UTSW	12	44,908,058 (GRCm39)	missense	probably benign	0.11
R7162:Stxbp6	UTSW	12	44,949,663 (GRCm39)	missense	probably benign	0.13
R7264:Stxbp6	UTSW	12	44,948,782 (GRCm39)	missense	probably damaging	1.00
R7275:Stxbp6	UTSW	12	44,948,786 (GRCm39)	missense	probably benign	0.00
R7694:Stxbp6	UTSW	12	44,948,810 (GRCm39)	missense	probably damaging	0.97
R8474:Stxbp6	UTSW	12	44,949,704 (GRCm39)	missense	possibly damaging	0.54
R9328:Stxbp6	UTSW	12	44,902,659 (GRCm39)	missense	probably damaging	1.00
R9507:Stxbp6	UTSW	12	45,066,360 (GRCm39)	missense	probably benign	0.00
R9668:Stxbp6	UTSW	12	44,949,740 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ATTCCTTTGCTCAGCGTTGG -3'
(R):5'- TGTAATTGTGCACTTGTAGCCTC -3'

Sequencing Primer
(F):5'- GCTCAGCGTTGGAAAAATATACTCAC -3'
(R):5'- CTTGGTGTTATCCAGTTCAGATATC -3'

Posted On

2018-08-29