FB2024_03 , released June 25, 2024
Allele: Dmel\SERCAKum295
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General Information
Symbol
Dmel\SERCAKum295
Species
D. melanogaster
Name
FlyBase ID
FBal0184440
Feature type
allele
Associated gene
Dmel\SERCA
Associated Insertion(s)
Carried in Construct
Also Known As
Kum295, CaP60AKum295
Key Links
Genomic Maps

Allele class
Mutagen
Nature of the Allele
Allele class
Mutagen
ethyl methanesulfonate
(Sanyal et al., 2005)
Progenitor genotype
Cytology
Description

Amino acid replacement: C318S.

(Kaneko et al., 2014)

The amino acid replacement found in the Ca-P60AKum295 mutant is equivalent to the C318F and C318R mutations in the human ATP2A2 gene which have been implicated in Darier's disease and to the C333F mutation in the human ATP1A3 gene which has been implicated in alternating hemiplegia of childhood.

(Kaneko et al., 2014)
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
2R:23,931,597..23,931,597 [-]
Nucleotide change:

T23931597A

Amino acid change:

C318S | SERCA-PA; C318S | SERCA-PB; C318S | SERCA-PC; C318S | SERCA-PD; C318S | SERCA-PE; C318S | SERCA-PF; C318S | SERCA-PG; C318S | SERCA-PH; C318S | SERCA-PI

Reported amino acid change:

C318S

Comment:

T to A nucleotide change at the first position or a G to C change at the second position of the Cys codon leads to a Ser (exact site of mutation unspecified). The mutation has been annotated at the first nucleotide of the codon.

(Kaneko et al., 2014)
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 ( 0 )
      Disease
      Evidence
      References
      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.
      (Kaneko et al., 2014)
      ATP2A2:p.Cys318Ser
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Heterozygous adults paralyse within 3 minutes between 39o and 40oC. Many homozygous embryos appear abnormally contracted inside the egg case.

      (Sanyal et al., 2005)
      External Data
      Interactions
      Show genetic interaction network for Enhancers & Suppressors
      Phenotypic Class
      Phenotype Manifest In
      Additional Comments
      Genetic Interactions
      Statement
      Reference

      Ca-P60AKum295/+ suppresses the increased cardiac arrhythmicity seen in Df(2L)Scl12/Df(2L)Sclg6 adults.

      (Magny et al., 2013)
      Xenogenetic Interactions
      Statement
      Reference
      Complementation and Rescue Data
      Fails to complement

      SERCAKumP52

      (Sanyal et al., 2005)
      Comments
      Images (0)
      Mutant
      Wild-type
      Stocks (1)
      Notes on Origin
      Discoverer

      Selected as: a dominant mutation that results in paralysis of adults within 3 minutes at 40oC.

      (Sanyal et al., 2005)
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (5)
      Reported As
      Symbol Synonym
      295
      (Sanyal et al., 2006)
      Ca-P60AKum295
      CaP60AKum295
      (Sanyal et al., 2006, Sanyal et al., 2005)
      Kum295
      (Kaneko et al., 2014, Magny et al., 2013, Sanyal et al., 2005)
      SERCAKum295
      Name Synonyms
      Secondary FlyBase IDs
        References (5)