Mutagenetix > Incidental Mutation

Incidental Mutation 'R8474:Stxbp6'

657182

Institutional Source

Beutler Lab

Gene Symbol

Stxbp6

Ensembl Gene

ENSMUSG00000046314

Gene Name

syntaxin binding protein 6 (amisyn)

Synonyms

MMRRC Submission

067918-MU

Accession Numbers

Essential gene?

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

Stock #

R8474 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

44899267-45121248 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 44949704 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 75 (V75G)

Ref Sequence

ENSEMBL: ENSMUSP00000117366 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053768
AA Change: V75G

PolyPhen 2 Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000052639
Gene: ENSMUSG00000046314
AA Change: V75G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000120531
AA Change: V75G

PolyPhen 2 Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000112551
Gene: ENSMUSG00000046314
AA Change: V75G

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

possibly damaging
Transcript: ENSMUST00000143376
AA Change: V75G

PolyPhen 2 Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000117366
Gene: ENSMUSG00000046314
AA Change: V75G

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy8	A	T	15: 64,576,638 (GRCm39)	S975T	probably damaging	Het
Adgrg1	C	G	8: 95,729,936 (GRCm39)	T46S	probably damaging	Het
Akip1	T	A	7: 109,306,697 (GRCm39)	D131E	probably benign	Het
Arhgef39	A	G	4: 43,498,015 (GRCm39)	V163A	probably benign	Het
Atg2a	T	C	19: 6,301,433 (GRCm39)		probably null	Het
Bcam	A	T	7: 19,494,325 (GRCm39)	L357*	probably null	Het
Bcat2	A	G	7: 45,237,075 (GRCm39)	N194S	probably damaging	Het
Bcl2l14	T	C	6: 134,400,720 (GRCm39)	L47P	probably benign	Het
Cbln1	C	T	8: 88,198,673 (GRCm39)	A66T	possibly damaging	Het
Ccdc191	G	T	16: 43,710,262 (GRCm39)		probably benign	Het
Cd70	C	T	17: 57,456,468 (GRCm39)	S45N	possibly damaging	Het
Cfap43	G	A	19: 47,886,363 (GRCm39)	A84V	probably benign	Het
Clca3a1	T	A	3: 144,710,792 (GRCm39)	N804Y	possibly damaging	Het
Cmah	A	T	13: 24,601,350 (GRCm39)	N52I	probably damaging	Het
Crot	A	G	5: 9,043,518 (GRCm39)	Y35H	probably damaging	Het
Cyp3a59	C	A	5: 146,041,487 (GRCm39)	P344T	probably benign	Het
Dnah5	A	G	15: 28,247,978 (GRCm39)	E705G	probably benign	Het
Dnm2	A	G	9: 21,377,016 (GRCm39)	Y125C	probably damaging	Het
Dst	A	G	1: 34,208,266 (GRCm39)	Y739C	probably damaging	Het
Eif3a	A	T	19: 60,767,929 (GRCm39)	M203K	possibly damaging	Het
Enpep	C	T	3: 129,113,076 (GRCm39)	V283M	probably damaging	Het
Ephx3	A	G	17: 32,407,219 (GRCm39)	S240P	probably damaging	Het
Evi5l	T	C	8: 4,260,784 (GRCm39)	H1011R	possibly damaging	Het
Fig4	A	T	10: 41,108,170 (GRCm39)	F677I	probably benign	Het
Gramd1b	A	G	9: 40,287,207 (GRCm39)		probably null	Het
Gse1	C	T	8: 121,295,123 (GRCm39)		probably benign	Het
Hoxa9	A	G	6: 52,202,506 (GRCm39)		probably null	Het
Ice1	A	T	13: 70,752,566 (GRCm39)	S1173R	probably benign	Het
Ifi207	G	A	1: 173,556,605 (GRCm39)	T718I	possibly damaging	Het
Ifit1bl1	A	G	19: 34,572,262 (GRCm39)	L65P	probably damaging	Het
Impact	T	C	18: 13,107,798 (GRCm39)	I22T	probably damaging	Het
Lrp1	A	G	10: 127,375,572 (GRCm39)	C4409R	probably damaging	Het
Mark1	A	G	1: 184,651,783 (GRCm39)	W131R	probably damaging	Het
Mindy3	T	C	2: 12,404,839 (GRCm39)	T190A	probably damaging	Het
Mybbp1a	A	G	11: 72,338,563 (GRCm39)	D721G	probably benign	Het
Myo1d	A	G	11: 80,561,745 (GRCm39)	V466A	possibly damaging	Het
Myo5b	A	C	18: 74,903,411 (GRCm39)	D1809A	probably damaging	Het
Nudcd2	C	T	11: 40,624,850 (GRCm39)	Q20*	probably null	Het
Or4f62	T	C	2: 111,986,320 (GRCm39)	M8T	probably benign	Het
Or5b101	A	G	19: 13,005,357 (GRCm39)	L112P	probably damaging	Het
Or8g2b	T	A	9: 39,751,048 (GRCm39)	L106H	possibly damaging	Het
Pcif1	A	T	2: 164,730,272 (GRCm39)	D335V	probably damaging	Het
Pebp4	T	A	14: 70,085,136 (GRCm39)	C65S	possibly damaging	Het
Ptger1	C	T	8: 84,395,267 (GRCm39)	A248V	probably benign	Het
Qki	A	T	17: 10,537,747 (GRCm39)	M19K	probably benign	Het
Ralgapa2	C	G	2: 146,266,750 (GRCm39)	A609P	probably damaging	Het
Robo2	C	T	16: 73,745,150 (GRCm39)	G875D	probably damaging	Het
Runx2	A	G	17: 44,919,147 (GRCm39)	V375A	probably damaging	Het
Sis	A	T	3: 72,836,730 (GRCm39)	F841I	probably damaging	Het
Slc5a8	A	G	10: 88,757,552 (GRCm39)	D514G	possibly damaging	Het
Spag17	A	T	3: 99,934,586 (GRCm39)	T623S	probably benign	Het
Sppl2c	A	G	11: 104,078,963 (GRCm39)	S588G	probably benign	Het
Tmc3	G	A	7: 83,259,122 (GRCm39)	R531Q	probably damaging	Het
Tmem258	T	C	19: 10,184,550 (GRCm39)	Y41H	probably damaging	Het
Tsks	A	T	7: 44,600,263 (GRCm39)	T91S	probably damaging	Het
Vmn2r23	T	C	6: 123,681,599 (GRCm39)	V169A	probably benign	Het
Wdr54	T	C	6: 83,129,985 (GRCm39)	N282S	probably benign	Het
Yme1l1	T	A	2: 23,052,584 (GRCm39)	N79K	probably benign	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
R6787:Stxbp6	UTSW	12	44,949,779 (GRCm39)	splice site	probably null
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
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'- GGGAAGTTTTGGTCACACAACTG -3'
(R):5'- TTGCATTCACCTCTCCACAAAG -3'

Sequencing Primer
(F):5'- TGGTCACACAACTGAAATAGCCTTG -3'
(R):5'- TCAGACAATGTACCTCCC -3'

Posted On

2021-01-18