FB2025_01 , released February 20, 2025
Allele: Dmel\zipN98K.sqh.GFP
Open Close
General Information
Symbol
Dmel\zipN98K.sqh.GFP
Species
D. melanogaster
Name
FlyBase ID
FBal0356510
Feature type
allele
Associated gene
Dmel\zip
Associated Insertion(s)
Carried in Construct
P{sqh-zip.N98K.GFP}
Key Links
Genomic Maps

Transgenic product class
missense_variant
(Kasza et al., 2019)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Kasza et al., 2019)
Mutagen
in vitro construct
(Kasza et al., 2019)
Progenitor genotype
Carried in construct
P{sqh-zip.N98K.GFP}
Cytology
Description

The sqh promoter drives expression of zip that has been mutated to carry a N98K amino acid replacement. This change is equivalent to a N93K change in the human MYH9 gene, a variant associated with disease. The coding sequence is tagged at the N-terminal end with GFP.

(Kasza et al., 2019)
Allele components
Component
Use(s)
Regulatory region(s)
sqh
Encoded product / tool
zip
Tagged with
GFP
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
2R:25,005,922..25,005,922 [-]
Nucleotide change:

C25005922G

Amino acid change:

N143K | zip-PA; N98K | zip-PB; N98K | zip-PC; N143K | zip-PD; N98K | zip-PE; N98K | zip-PF; N98K | zip-PG; N98K | zip-PH; N143K | zip-PI

Reported amino acid change:

N98K

Comment:

Analogous N93K mutation in human MYH9 implicated in MYH9-related disorder; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.

(Kasza et al., 2019)
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  MYH-9 related disease
      CEA
      (Kasza et al., 2019)
      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.
      (Kasza et al., 2019)
      MYH9:p.Asn93Lys
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      ClinVar: MYH9_14075
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Embryos with maternal expression of zipGL00623 under the control of Scer\GAL4VP16.mat.αTub67C do not show changes in germ band cell area or cell aspect ratio, as compared to rescued controls. Adding zipN98K.sqh.GFP leads to increased cell elongation parallel to the DV axis, still without affecting the apical cell area.

      (Kasza et al., 2019)
      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

      The germ band elongation defects and lethality of embryos with maternal expression of zipGL00623 under the control of Scer\GAL4VP16.mat.αTub67C are weakly rescued by zipN98K.sqh.GFP. The decreased anisotropic contractile tension of the stage 7 ventrolateral germband is also significantly rescued by zipN98K.sqh.GFP. The decreased contraction of anterior-posterior edges during cell intercalation is not significantly rescued by zipN98K.sqh.GFP. Likewise, the ectopic tissue folds are not rescued by zipN98K.sqh.GFP.

      (Kasza et al., 2019)
      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
      zipN98K.sqh.GFP
      Name Synonyms
      Secondary FlyBase IDs
        References (2)