|Institutional Source||Beutler Lab|
|Gene Name||syntaxin 1B|
|Is this an essential gene?||Probably non essential (E-score: 0.241)|
|Stock #||R6843 (G1)|
|Chromosomal Location||127803900-127824549 bp(-) (GRCm38)|
|Type of Mutation||nonsense|
|DNA Base Change (assembly)||G to A at 127814979 bp|
|Amino Acid Change||Glutamine to Stop codon at position 72 (Q72*)|
|Ref Sequence||ENSEMBL: ENSMUSP00000101874 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000106267] [ENSMUST00000156135]|
|Predicted Effect||probably null
AA Change: Q72*
AA Change: Q72*
|Predicted Effect||probably benign
|Coding Region Coverage||
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||
|Other mutations in Stx1b||
(F):5'- AAACACTGCCTGGCTCATTTC -3'
(R):5'- GCTGCATCGAGAAACTGTCTG -3'
(F):5'- CCTGTCAAGTGTTTCCAAAGGACG -3'
(R):5'- CATCGAGAAACTGTCTGAGGATGTG -3'