Mutagenetix > Incidental Mutation

Incidental Mutation 'R6092:Stx1b'

485986

Institutional Source

Beutler Lab

Gene Symbol

Stx1b

Ensembl Gene

ENSMUSG00000030806

Gene Name

syntaxin 1B

Synonyms

Stx1b2

MMRRC Submission

044249-MU

Accession Numbers

Essential gene?

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

Stock #

R6092 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

127403072-127423703 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 127407035 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 74 (M74T)

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: M220T

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000101874
Gene: ENSMUSG00000030806
AA Change: M220T

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

possibly damaging
Transcript: ENSMUST00000156135
AA Change: M74T

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206297

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.1%

Validation Efficiency

98% (61/62)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	T	3: 137,774,701 (GRCm39)	P1297S	probably benign	Het
4930486L24Rik	C	T	13: 61,001,461 (GRCm39)	V89M	probably benign	Het
Abhd16a	T	C	17: 35,317,786 (GRCm39)		probably null	Het
Abtb1	A	C	6: 88,815,433 (GRCm39)	C264G	probably benign	Het
Ank3	G	A	10: 69,838,395 (GRCm39)	R1566K	possibly damaging	Het
Arid1a	C	T	4: 133,421,163 (GRCm39)	G881R	unknown	Het
Asb8	A	G	15: 98,034,123 (GRCm39)	V144A	possibly damaging	Het
Atm	A	C	9: 53,435,714 (GRCm39)	C199G	probably damaging	Het
Atxn1	C	A	13: 45,720,288 (GRCm39)	V536L	probably benign	Het
Baz1a	C	T	12: 54,955,868 (GRCm39)	V1074M	possibly damaging	Het
BC034090	T	A	1: 155,100,659 (GRCm39)	D535V	probably damaging	Het
Casp8ap2	C	A	4: 32,639,380 (GRCm39)	H145N	probably damaging	Het
Ccdc24	T	A	4: 117,729,645 (GRCm39)	K25*	probably null	Het
Ccdc91	A	G	6: 147,437,114 (GRCm39)	N100S	possibly damaging	Het
Cdh20	A	T	1: 110,026,036 (GRCm39)	Y424F	probably benign	Het
Clasp1	T	C	1: 118,438,028 (GRCm39)	S612P	probably damaging	Het
Cxcl14	T	C	13: 56,443,646 (GRCm39)	M55V	possibly damaging	Het
Dnah11	T	C	12: 117,892,191 (GRCm39)	T3661A	probably benign	Het
Dnah14	T	A	1: 181,449,398 (GRCm39)	D574E	probably benign	Het
Dnah6	C	T	6: 73,091,680 (GRCm39)	V2204M	possibly damaging	Het
Ercc4	A	T	16: 12,943,125 (GRCm39)	H178L	probably benign	Het
Far2	T	C	6: 148,076,581 (GRCm39)	F475L	probably benign	Het
Ggt7	A	G	2: 155,359,959 (GRCm39)		probably null	Het
Gm4131	T	A	14: 62,718,364 (GRCm39)	T81S	possibly damaging	Het
Gprc6a	A	G	10: 51,491,173 (GRCm39)	S788P	probably damaging	Het
Hmgxb3	C	A	18: 61,270,672 (GRCm39)	G884V	possibly damaging	Het
Homer1	T	A	13: 93,502,945 (GRCm39)		probably benign	Het
Iars1	T	C	13: 49,861,897 (GRCm39)	S483P	probably damaging	Het
Kansl1l	C	G	1: 66,812,643 (GRCm39)	E457Q	probably damaging	Het
Krtap4-9	G	A	11: 99,676,481 (GRCm39)		probably benign	Het
Lepr	C	A	4: 101,649,220 (GRCm39)	P874T	probably damaging	Het
Mad2l2	T	A	4: 148,228,067 (GRCm39)	F100L	probably damaging	Het
Mavs	A	T	2: 131,087,518 (GRCm39)	R339*	probably null	Het
Mettl1	G	A	10: 126,877,843 (GRCm39)		probably benign	Het
Mfsd8	A	G	3: 40,774,031 (GRCm39)	V493A	possibly damaging	Het
Mtmr9	C	T	14: 63,779,901 (GRCm39)	V63M	possibly damaging	Het
Mto1	T	C	9: 78,368,131 (GRCm39)	I425T	possibly damaging	Het
Or2av9	A	T	11: 58,380,900 (GRCm39)	M227K	probably damaging	Het
Or5g29	A	G	2: 85,420,950 (GRCm39)	Y22C	probably benign	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Pclo	C	T	5: 14,727,937 (GRCm39)		probably benign	Het
Phf2	T	C	13: 48,969,533 (GRCm39)	D608G	unknown	Het
Plch2	T	C	4: 155,068,829 (GRCm39)	T1266A	probably benign	Het
Prdm12	A	G	2: 31,533,889 (GRCm39)	N169D	probably damaging	Het
Rimbp3	A	G	16: 17,030,134 (GRCm39)	Y1186C	probably damaging	Het
Serpinb3d	T	C	1: 107,006,989 (GRCm39)	M240V	probably damaging	Het
Slc25a38	C	T	9: 119,945,658 (GRCm39)	R74C	probably damaging	Het
Slc25a39	A	T	11: 102,295,719 (GRCm39)	Y109*	probably null	Het
Slc26a8	T	C	17: 28,867,129 (GRCm39)	N564S	probably damaging	Het
Spag4	G	A	2: 155,907,696 (GRCm39)		probably benign	Het
Tbc1d1	A	G	5: 64,507,242 (GRCm39)	D1153G	probably benign	Het
Tert	T	C	13: 73,776,700 (GRCm39)	F484L	probably benign	Het
Tet1	A	G	10: 62,649,494 (GRCm39)	V72A	probably benign	Het
Tnfrsf13c	T	C	15: 82,107,355 (GRCm39)	T147A	probably damaging	Het
Trpa1	A	T	1: 14,959,710 (GRCm39)	Y659N	probably damaging	Het
Trpm2	A	G	10: 77,761,516 (GRCm39)	F1045L	probably benign	Het
Ttc13	T	C	8: 125,405,772 (GRCm39)	H529R	probably benign	Het
Ttn	T	C	2: 76,545,614 (GRCm39)	T32570A	probably damaging	Het
Uba7	A	G	9: 107,860,359 (GRCm39)	T892A	possibly damaging	Het
Uty	A	T	Y: 1,174,836 (GRCm39)	M195K	probably benign	Het
Zfp109	A	G	7: 23,928,978 (GRCm39)	S152P	possibly damaging	Het
Zfp532	T	C	18: 65,777,281 (GRCm39)	V846A	probably damaging	Het
Zfp658	A	T	7: 43,223,951 (GRCm39)	H742L	possibly damaging	Het
Zfp831	C	A	2: 174,547,299 (GRCm39)	P1494Q	probably damaging	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
R4964:Stx1b	UTSW	7	127,407,093 (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
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'- GCCTTGCTCTGATACTTCACAG -3'
(R):5'- ACCCAAACCCTCTGTTGAACTG -3'

Sequencing Primer
(F):5'- ACAGCTTTCTTGGTGTCAGACAC -3'
(R):5'- GTTGAACTGAAGCTATTACACGGCC -3'

Posted On

2017-08-16