FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\certS149L
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General Information
Symbol
Dmel\certS149L
Species
D. melanogaster
Name
FlyBase ID
FBal0391132
Feature type
allele
Associated gene
Dmel\cert
Associated Insertion(s)
Carried in Construct
P{cert.S149L}
Key Links
Genomic Maps

Transgenic product class
missense_variant
(Gehin et al., 2023)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Gehin et al., 2023)
Mutagen
in vitro construct
(Gehin et al., 2023)
Progenitor genotype
Carried in construct
P{cert.S149L}
Cytology
Description

cert 5'UTR and coding sequence, expressed under the control of its own promoter. The coding sequence carries a S149L amino acid substitution. This change is equivalent to a S132L change in the orthologous human CERT1 gene, the most common and severe variant identified in patients with ceramide transporter (CerTra) syndrome.

(Gehin et al., 2023)
Allele components
Component
Use(s)
Regulatory region(s)
cert
Encoded product / tool
cert
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
MNV
3L:8,288,054..8,288,055 [-]
Nucleotide change:

AG8288055CT

Amino acid change:

S149L | cert-PA; S149L | cert-PC

Reported amino acid change:

S149L

Comment:

Analogous mutation in human CERT1 implicated in intellectual disability, autosomal dominant 34; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.

(Gehin et al., 2023)
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 )
      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.
      (Gehin et al., 2023)
      CERT1:p.Ser132Leu
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      CERT1:p.Ser260Leu
      Associated human disease model(s)
      External database links
      ClinVar: 419654
      Comments concerning this variant
      Phenotypic 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 (1)
      Reported As
      Symbol Synonym
      certS149L
      Name Synonyms
      Secondary FlyBase IDs
        References (2)