Mutagenetix > Incidental Mutation

Incidental Mutation 'R4964:Stx1b'

383789

Institutional Source

Beutler Lab

Gene Symbol

Stx1b

Ensembl Gene

ENSMUSG00000030806

Gene Name

syntaxin 1B

Synonyms

Stx1b2

MMRRC Submission

042561-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.321) question?

Stock #

R4964 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127403072-127423703 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127407093 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 55 (I55V)

Ref Sequence

ENSEMBL: ENSMUSP00000145698 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046863] [ENSMUST00000106267] [ENSMUST00000106271] [ENSMUST00000106272] [ENSMUST00000154987] [ENSMUST00000156135]

AlphaFold

P61264

Predicted Effect

probably benign
Transcript: ENSMUST00000046863

SMART Domains

Protein: ENSMUSP00000036245
Gene: ENSMUSG00000042289

Domain	Start	End	E-Value	Type
Pfam:KR	11	147	3e-10	PFAM
Pfam:RmlD_sub_bind	11	198	8.1e-10	PFAM
Pfam:Polysacc_synt_2	12	140	4.6e-13	PFAM
Pfam:NmrA	12	142	1.9e-9	PFAM
Pfam:Epimerase	12	215	3.2e-25	PFAM
Pfam:GDP_Man_Dehyd	13	185	8.1e-17	PFAM
Pfam:3Beta_HSD	13	290	5.4e-99	PFAM
Pfam:NAD_binding_4	14	240	1.4e-15	PFAM
transmembrane domain	312	334	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106267
AA Change: I201V

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000101874
Gene: ENSMUSG00000030806
AA Change: I201V

Domain	Start	End	E-Value	Type
SynN	24	145	1.99e-44	SMART
t_SNARE	186	253	4.32e-24	SMART
transmembrane domain	265	287	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106271

SMART Domains

Protein: ENSMUSP00000101878
Gene: ENSMUSG00000042289

Domain	Start	End	E-Value	Type
Pfam:adh_short	10	143	1.3e-13	PFAM
Pfam:RmlD_sub_bind	10	186	3.7e-10	PFAM
Pfam:KR	11	140	5.7e-10	PFAM
Pfam:Polysacc_synt_2	12	140	2.8e-13	PFAM
Pfam:NmrA	12	141	2.7e-9	PFAM
Pfam:Epimerase	12	220	2.9e-26	PFAM
Pfam:NAD_binding_10	13	186	2.3e-11	PFAM
Pfam:3Beta_HSD	13	216	1e-70	PFAM
Pfam:NAD_binding_4	14	183	1.3e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106272

SMART Domains

Protein: ENSMUSP00000101879
Gene: ENSMUSG00000042289

Domain	Start	End	E-Value	Type
Pfam:adh_short	10	143	3.7e-13	PFAM
Pfam:RmlD_sub_bind	10	180	2.8e-9	PFAM
Pfam:KR	11	139	1.6e-9	PFAM
Pfam:Polysacc_synt_2	12	140	7.7e-13	PFAM
Pfam:NmrA	12	141	7.3e-9	PFAM
Pfam:Epimerase	12	215	7.1e-26	PFAM
Pfam:NAD_binding_10	13	179	1.1e-10	PFAM
Pfam:3Beta_HSD	13	188	6.1e-70	PFAM
Pfam:NAD_binding_4	14	187	1.5e-17	PFAM
Pfam:3Beta_HSD	177	261	4e-23	PFAM
transmembrane domain	281	303	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132702

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144748

Predicted Effect

probably benign
Transcript: ENSMUST00000154987

Predicted Effect

probably damaging
Transcript: ENSMUST00000156135
AA Change: I55V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206297

Meta Mutation Damage Score

0.5051

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

Validation Efficiency

98% (100/102)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to a family of proteins thought to play a role in the exocytosis of synaptic vesicles. Vesicle exocytosis releases vesicular contents and is important to various cellular functions. For instance, the secretion of transmitters from neurons plays an important role in synaptic transmission. After exocytosis, the membrane and proteins from the vesicle are retrieved from the plasma membrane through the process of endocytosis. Mutations in this gene have been identified as one cause of fever-associated epilepsy syndromes. A possible link between this gene and Parkinson's disease has also been suggested. [provided by RefSeq, Jan 2015]
PHENOTYPE: Mice homozygous for a reporter allele that encodes an 'open' syntaxin-1B protein conformation are viable but display severe ataxia, reduced chromaffin vesicle docking, accelerated synaptic vesicle fusion, and lethal epileptic seizures after 2 weeks of age. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	C	13: 119,610,757 (GRCm39)		probably benign	Het
9030619P08Rik	T	A	15: 75,303,267 (GRCm39)		noncoding transcript	Het
A430033K04Rik	G	T	5: 138,645,119 (GRCm39)	E335*	probably null	Het
Abcb1b	A	T	5: 8,862,671 (GRCm39)	T118S	probably benign	Het
Abcb1b	T	A	5: 8,911,602 (GRCm39)	I133N	probably damaging	Het
Acox3	A	G	5: 35,747,080 (GRCm39)	N166D	probably damaging	Het
Adam5	T	C	8: 25,276,248 (GRCm39)	Y473C	probably damaging	Het
Ankmy2	A	G	12: 36,236,917 (GRCm39)	K242E	possibly damaging	Het
Apc2	A	C	10: 80,149,841 (GRCm39)	I1603L	probably benign	Het
Arhgef25	T	A	10: 127,021,472 (GRCm39)	I249F	probably damaging	Het
Birc2	T	C	9: 7,860,553 (GRCm39)	H255R	probably benign	Het
Cables1	A	T	18: 12,074,334 (GRCm39)	R486W	possibly damaging	Het
Caskin1	A	T	17: 24,726,135 (GRCm39)	D1414V	probably damaging	Het
Ccdc175	A	G	12: 72,227,619 (GRCm39)	S55P	probably damaging	Het
Ccdc57	A	T	11: 120,751,978 (GRCm39)	S868T	probably benign	Het
Ccny	A	T	18: 9,449,516 (GRCm39)		probably null	Het
Cdc34b	A	T	11: 94,633,087 (GRCm39)	I96F	probably damaging	Het
Ctnnd1	A	G	2: 84,452,417 (GRCm39)	F69L	possibly damaging	Het
Cul9	C	T	17: 46,849,451 (GRCm39)	D565N	probably damaging	Het
Cxcl16	A	G	11: 70,346,519 (GRCm39)	V208A	probably benign	Het
Cyb5rl	A	G	4: 106,926,329 (GRCm39)		probably benign	Het
Ddx18	T	C	1: 121,493,823 (GRCm39)	K54E	probably benign	Het
Ddx60	G	A	8: 62,432,372 (GRCm39)	V885I	probably damaging	Het
Dlg1	C	T	16: 31,573,626 (GRCm39)	T9I	probably benign	Het
Dnase1	T	C	16: 3,855,771 (GRCm39)		probably benign	Het
Drd4	T	C	7: 140,873,690 (GRCm39)	M114T	probably damaging	Het
Egfr	A	T	11: 16,858,949 (GRCm39)	D976V	probably damaging	Het
Eif2s1	T	A	12: 78,926,785 (GRCm39)	N178K	probably benign	Het
Exoc3l4	A	G	12: 111,395,155 (GRCm39)	H591R	probably benign	Het
Galntl6	T	C	8: 59,152,945 (GRCm39)		probably benign	Het
Glipr1l2	T	A	10: 111,942,904 (GRCm39)	I253K	possibly damaging	Het
Gnat1	A	T	9: 107,554,433 (GRCm39)	M115K	probably benign	Het
Gtsf2	T	C	15: 103,352,755 (GRCm39)	E88G	possibly damaging	Het
Hormad1	T	A	3: 95,492,531 (GRCm39)		probably null	Het
Hydin	A	T	8: 111,217,305 (GRCm39)	I1398F	possibly damaging	Het
Ifnar1	T	C	16: 91,301,974 (GRCm39)	V483A	probably benign	Het
Ints11	T	C	4: 155,971,385 (GRCm39)	F278L	probably damaging	Het
Ints6	A	G	14: 62,939,911 (GRCm39)	L593P	probably damaging	Het
Krt7	C	T	15: 101,311,853 (GRCm39)	R104C	probably damaging	Het
Map4k1	A	T	7: 28,682,427 (GRCm39)	H16L	probably benign	Het
Mef2d	T	A	3: 88,075,404 (GRCm39)	I422N	probably damaging	Het
Mipep	G	T	14: 61,022,231 (GRCm39)	R32L	probably damaging	Het
Mon1a	A	G	9: 107,779,850 (GRCm39)	E473G	probably damaging	Het
Mterf2	T	A	10: 84,955,979 (GRCm39)	Q215L	probably damaging	Het
Mybpc1	T	A	10: 88,391,525 (GRCm39)	Y324F	probably benign	Het
Myh11	T	C	16: 14,023,818 (GRCm39)	E1512G	probably damaging	Het
Myo1g	A	T	11: 6,465,976 (GRCm39)	F370I	probably damaging	Het
Myo5c	T	A	9: 75,204,791 (GRCm39)	M1548K	possibly damaging	Het
Myof	T	A	19: 37,924,300 (GRCm39)	I1306F	probably damaging	Het
Nle1	A	G	11: 82,799,018 (GRCm39)	F21S	probably damaging	Het
Noc2l	C	G	4: 156,330,368 (GRCm39)	D513E	probably damaging	Het
Or1e17	A	T	11: 73,832,028 (GRCm39)	I319F	probably benign	Het
Or2z2	A	G	11: 58,346,733 (GRCm39)	V14A	probably benign	Het
Orc1	T	C	4: 108,471,670 (GRCm39)	*841R	probably null	Het
Patz1	A	G	11: 3,257,720 (GRCm39)	D573G	probably damaging	Het
Pcdhga3	A	G	18: 37,809,154 (GRCm39)	T536A	probably benign	Het
Pde6h	C	T	6: 136,938,201 (GRCm39)	T58I	possibly damaging	Het
Pip5k1a	T	C	3: 94,978,094 (GRCm39)	I275V	probably benign	Het
Pkd1	T	C	17: 24,805,042 (GRCm39)		probably null	Het
Polr1e	G	A	4: 45,029,429 (GRCm39)	A297T	probably damaging	Het
Polrmt	A	G	10: 79,582,385 (GRCm39)	M1T	probably null	Het
Rbm34	T	C	8: 127,678,087 (GRCm39)	D269G	possibly damaging	Het
Rnf122	T	A	8: 31,602,177 (GRCm39)	M1K	probably null	Het
Rnf32	G	A	5: 29,403,576 (GRCm39)	R7H	probably benign	Het
Ryr2	T	C	13: 11,729,497 (GRCm39)	E2375G	possibly damaging	Het
Ryr2	T	C	13: 11,848,878 (GRCm39)	T361A	probably benign	Het
Serpina3m	T	C	12: 104,355,360 (GRCm39)	I9T	probably benign	Het
Serpinb9	T	A	13: 33,192,847 (GRCm39)	W135R	probably damaging	Het
Sf3b1	T	C	1: 55,038,871 (GRCm39)	N804S	probably benign	Het
Shroom1	A	G	11: 53,355,999 (GRCm39)	T350A	probably benign	Het
Slc24a5	G	A	2: 124,910,188 (GRCm39)	V30I	probably benign	Het
Slc38a8	A	T	8: 120,209,423 (GRCm39)		probably null	Het
Smarcd1	A	G	15: 99,605,862 (GRCm39)	S378G	possibly damaging	Het
Sult2a8	A	G	7: 14,159,457 (GRCm39)	V54A	probably damaging	Het
Tacc2	T	C	7: 130,330,507 (GRCm39)	S264P	probably damaging	Het
Tbc1d4	A	T	14: 101,695,610 (GRCm39)	Y943N	probably damaging	Het
Tlr5	T	C	1: 182,801,038 (GRCm39)	I114T	probably benign	Het
Tmco6	T	C	18: 36,868,555 (GRCm39)		probably null	Het
Treh	T	C	9: 44,593,945 (GRCm39)	L144P	probably damaging	Het
Trmt2a	T	A	16: 18,067,418 (GRCm39)	C30*	probably null	Het
Ttbk2	A	T	2: 120,603,758 (GRCm39)	F258L	possibly damaging	Het
Ttn	T	C	2: 76,785,380 (GRCm39)	D665G	probably damaging	Het
Unc93b1	T	C	19: 3,992,023 (GRCm39)		probably null	Het
Uroc1	T	C	6: 90,322,376 (GRCm39)	L300P	probably damaging	Het
Vps35l	T	C	7: 118,379,491 (GRCm39)	I426T	possibly damaging	Het
Xbp1	A	G	11: 5,471,125 (GRCm39)	E44G	probably damaging	Het
Zfp451	A	T	1: 33,816,942 (GRCm39)	V119D	probably damaging	Het
Zfp457	T	A	13: 67,441,342 (GRCm39)	H315L	probably damaging	Het
Zfp518a	T	A	19: 40,904,295 (GRCm39)	V1408D	possibly damaging	Het
Zfp52	T	G	17: 21,780,665 (GRCm39)	L171R	probably benign	Het
Zfp712	C	T	13: 67,188,676 (GRCm39)	C617Y	probably damaging	Het
Zfp770	T	C	2: 114,027,868 (GRCm39)	N67S	probably benign	Het

Other mutations in Stx1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00540:Stx1b	APN	7	127,409,870 (GRCm39)	missense	probably damaging	1.00
IGL02730:Stx1b	APN	7	127,414,549 (GRCm39)	missense	probably benign	0.37
IGL03394:Stx1b	APN	7	127,407,056 (GRCm39)	missense	probably damaging	1.00
R0680:Stx1b	UTSW	7	127,406,895 (GRCm39)	missense	possibly damaging	0.80
R1141:Stx1b	UTSW	7	127,410,098 (GRCm39)	splice site	probably null
R1511:Stx1b	UTSW	7	127,414,144 (GRCm39)	missense	probably damaging	0.99
R2024:Stx1b	UTSW	7	127,414,575 (GRCm39)	missense	probably benign	0.00
R2116:Stx1b	UTSW	7	127,410,077 (GRCm39)	missense	probably damaging	1.00
R4966:Stx1b	UTSW	7	127,407,093 (GRCm39)	missense	probably damaging	1.00
R5385:Stx1b	UTSW	7	127,414,575 (GRCm39)	missense	probably benign	0.00
R5386:Stx1b	UTSW	7	127,414,575 (GRCm39)	missense	probably benign	0.00
R5777:Stx1b	UTSW	7	127,410,090 (GRCm39)	nonsense	probably null
R6092:Stx1b	UTSW	7	127,407,035 (GRCm39)	missense	possibly damaging	0.94
R6184:Stx1b	UTSW	7	127,407,077 (GRCm39)	missense	possibly damaging	0.79
R6688:Stx1b	UTSW	7	127,407,068 (GRCm39)	missense	probably damaging	1.00
R6843:Stx1b	UTSW	7	127,414,151 (GRCm39)	nonsense	probably null
R7493:Stx1b	UTSW	7	127,406,531 (GRCm39)	missense	possibly damaging	0.88
R7919:Stx1b	UTSW	7	127,406,507 (GRCm39)	missense	probably benign	0.19
R8401:Stx1b	UTSW	7	127,406,945 (GRCm39)	splice site	probably benign
R9164:Stx1b	UTSW	7	127,414,159 (GRCm39)	missense	probably benign
R9608:Stx1b	UTSW	7	127,406,551 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GGTCGATCATCTCACCCTGC -3'
(R):5'- CTGGTTGCTCTGCCCCAAAG -3'

Sequencing Primer
(F):5'- TGCACACAGAGGAAACGTGAC -3'
(R):5'- CAAGTACACTGTAGCTGGCTTCAG -3'

Posted On

2016-04-27