FB2024_03 , released June 25, 2024
Allele: Dmel\spasK467R.UAS.Tag:MYC
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General Information
Symbol
Dmel\spasK467R.UAS.Tag:MYC
Species
D. melanogaster
Name
FlyBase ID
FBal0304400
Feature type
allele
Associated gene
Dmel\spas
Associated Insertion(s)
Carried in Construct
P{UAS-spas-myc.K467R}
Key Links
Genomic Maps

Transgenic product class
missense_variant
(Papadopoulos et al., 2015)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Papadopoulos et al., 2015)
Mutagen
in vitro construct
(Papadopoulos et al., 2015)
Progenitor genotype
spasK467R.UAS
(Papadopoulos et al., 2015)
Carried in construct
P{UAS-spas-myc.K467R}
Cytology
Description

UAS regulatory sequences drive expression of a mutant form of spas (K467R) tagged at the C-terminal end with Tag:MYC.

(Papadopoulos et al., 2015)
Allele components
Component
Use(s)
Regulatory region(s)
UAS
Encoded product / tool
spas
Tagged with
Tag:MYC
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
3R:24,040,933..24,040,933 [+]
Nucleotide change:

A24040933G

Amino acid change:

K529R | spas-PA; K529R | spas-PB; K467R | spas-PC; K467R | spas-PD; K322R | spas-PE; K260R | spas-PF

Reported amino acid change:

K467R

Comment:

K467R mutation is relative to isoform spas-PC and spas-PD; analogous mutation in human SPAST implicated in spastic paraplegia 4; mutation carried on in vitro construct; site of nucleotide substitution in fly gene and specific disease association inferred by FlyBase curator.

(Papadopoulos et al., 2015)
Variant Molecular Consequences
Associated Sequence Data
DDBJ / EMBL / GenBank
DNA sequence
Protein sequence
 
UniProtKB/Swiss-Prot
    UniProtKB/TrEMBL
      Expression Data
      Reporter Expression
      Additional Information
      Statement
      Reference
       
      Marker for
      Reflects expression of
      Reporter construct used in assay
      Human Disease Associations
      Disease Ontology (DO) Annotations
      Models Based on Experimental Evidence ( 1 )
      Disease
      Evidence
      References
      model of  hereditary spastic paraplegia
      CEA
      (Papadopoulos et al., 2015)
      Modifiers Based on Experimental Evidence ( 0 )
      Disease
      Interaction
      References
      Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
       
      Disease-implicated variant(s)
       
      This allele represents a human variant implicated in disease.
      (Papadopoulos et al., 2015)
      SPAST:p.Lys388Arg
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      SPAST:p.Lys356Arg
      Associated human disease model(s)
      External database links
      ClinVar: 1442734
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Expression of spasK467R.Scer\UAS.T:Hsap\MYC under the control of Scer\GAL4Act.PU drastically reduces the size and area covered by lipid droplets in the larval fat bodies. There is a significant increase in the total triacylglycerols (TAG) content.

      Expression of spasK467R.Scer\UAS.T:Hsap\MYC under the control of Scer\GAL4Mef2.PU causes an excessive stabilization of the microtubule network in the larval body muscles, and results in a significant decrease in the total number and size of lipid droplets.

      Expression of spasK467R.Scer\UAS.T:Hsap\MYC under the control of Scer\GAL4elav.PU reduces lipid droplet number in the larval proximal ventral ganglion nerves, without affecting droplet size.

      (Papadopoulos et al., 2015)
      External Data
      Interactions
      Show genetic interaction network for Enhancers & Suppressors
      Phenotypic Class
      Phenotype Manifest In
      Additional Comments
      Genetic Interactions
      Statement
      Reference
      Xenogenetic Interactions
      Statement
      Reference
      Complementation and Rescue Data
      Comments
      Images (0)
      Mutant
      Wild-type
      Stocks (0)
      Notes on Origin
      Discoverer
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (2)
      Reported As
      Symbol Synonym
      spasK467R.Scer\UAS.T:Hsap\MYC
      spasK467R.UAS.Tag:MYC
      Name Synonyms
      Secondary FlyBase IDs
        References (2)