|Institutional Source||Beutler Lab|
|Gene Name||synaptosomal-associated protein 29|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R2137 (G1)|
|Chromosomal Location||17405986-17430827 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 17428249 bp|
|Amino Acid Change||Aspartic acid to Glutamic Acid at position 244 (D244E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000023449 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000023449]|
|Predicted Effect||possibly damaging
AA Change: D244E
PolyPhen 2 Score 0.595 (Sensitivity: 0.87; Specificity: 0.91)
AA Change: D244E
|Meta Mutation Damage Score||0.0772|
|Coding Region Coverage||
|Validation Efficiency||97% (60/62)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene, a member of the SNAP25 gene family, encodes a protein involved in multiple membrane trafficking steps. Two other members of this gene family, SNAP23 and SNAP25, encode proteins that bind a syntaxin protein and mediate synaptic vesicle membrane docking and fusion to the plasma membrane. The protein encoded by this gene binds tightly to multiple syntaxins and is localized to intracellular membrane structures rather than to the plasma membrane. While the protein is mostly membrane-bound, a significant fraction of it is found free in the cytoplasm. Use of multiple polyadenylation sites has been noted for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit slightly reduced birth body size and a congenital ichtyotic phenotype associated with scaly and tight skin, hyperkeratosis, acanthosis, abnormalities in epidermal differentiation and autophagy, and increased endoplasmic reticulum stress. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Snap29||
(F):5'- TCTCAGGCAGGACTCTGTAG -3'
(R):5'- TACTCAGCTTAGACTAAAACTCAGCAG -3'
(F):5'- GACTCTGTAGTTGAGAGGCAC -3'
(R):5'- CAGCAGAACAGCTCAATAATTTTAG -3'