FB2024_03 , released June 25, 2024
Allele: Hsap\DNM1LE379K.UAS
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General Information
Symbol
Hsap\DNM1LE379K.UAS
Species
H. sapiens
Name
FlyBase ID
FBal0320378
Feature type
allele
Associated gene
Hsap\DNM1L
Associated Insertion(s)
Carried in Construct
PBac{UAS-hDNM1L.E379K}
Key Links
Transgenic product class
missense_variant
(Chao et al., 2016)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Chao et al., 2016)
Mutagen
in vitro construct
(Chao et al., 2016)
Progenitor genotype
Carried in construct
PBac{UAS-hDNM1L.E379K}
Cytology
Description

UASt regulatory sequences drive expression of Hsap\DNM1L carrying the E379K amino acid replacement identified in whole exome sequencing of an individual with infantile encephalopathy.

(Chao et al., 2016)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
Hsap\DNM1L
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
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.
      (Chao et al., 2016)
      DNM1L:p.Glu379Lys
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      DNM1L:p.Glu176Lys
      DNM1L:p.Glu392Lys
      Associated human disease model(s)
      External database links
      ClinVar: DNM1L_374321
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Expression of Hsap\DNM1LE379K.Scer\UAS under the control of Scer\GAL4Act5C.PI does not affect peroxisome morphology or their number per cell in the salivary glands of third instar larvae.

      (Chao et al., 2016)
      External Data
      Interactions
      Show genetic interaction network for Enhancers & Suppressors
      Phenotypic Class
      Suppressor of
      Statement
      Reference

      Scer\GAL4da.PU/Hsap\DNM1LE379K.UAS is a suppressor of lethal phenotype of Drp12/Drp11

      (Chao et al., 2016)
      Other
      Phenotype Manifest In
      Additional Comments
      Genetic Interactions
      Statement
      Reference
      Xenogenetic Interactions
      Statement
      Reference

      The lethality of Drp11/Drp12 transheterozygotes is rescued by expression of Hsap\DNM1LE379K.Scer\UAS under the control of Scer\GAL4da.PU in the mutant background.

      Expression of Hsap\DNM1LE379K.Scer\UAS under the control of either Scer\GAL4Act5C.PI or Scer\GAL4Mef2.PU does not cause lethality when expressed in sensitised Drp11/+ background.

      Expression of Hsap\DNM1LE379K.Scer\UAS under the control of Scer\GAL4Mef2.PU in sensitised Drp11/+ background does not cause any defects in the morphology or number of mitochondria in third instar larval muscles. Expression under the control of Scer\GAL4Toll-6-D42 does not cause mitochondria trafficking defects in the ventral nerve cord, axons but leads to clear trafficking defect at the level of synaptic boutons (number of mitochondria per bouton is significantly decreased compared to controls) in third instar larvae.

      (Chao et al., 2016)
      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 (3)
      Reported As
      Symbol Synonym
      DNM1L(E379K)
      (Chao et al., 2016)
      Hsap\DNM1LE379K.Scer\UAS
      Hsap\DNM1LE379K.UAS
      Name Synonyms
      Secondary FlyBase IDs
        References (2)