FB2024_03 , released June 25, 2024
Allele: Dmel\sxcH537A
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General Information
Symbol
Dmel\sxcH537A
Species
D. melanogaster
Name
FlyBase ID
FBal0340182
Feature type
allele
Associated gene
Dmel\sxc
Associated Insertion(s)
Carried in Construct
Key Links
Genomic Maps

Allele class

hypomorphic allele - molecular evidence

Mutagen
Nature of the Allele
Allele class

hypomorphic allele - molecular evidence

(Mariappa et al., 2018)
Mutagen
gene targeting by homologous recombination
(Mariappa et al., 2018)
CRISPR/Cas9
(Mariappa et al., 2018)
Progenitor genotype
Cytology
Description

Amino acid replacement: H537A.

(Mariappa et al., 2018)

There are silent mutations in adjacent codons as well as the H537A amino acid replacement.

(Mariappa et al., 2018)
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
MNV
2R:5,326,660..5,326,662 [+]
Nucleotide change:

CAC5326660GCG

Reported nucleotide change:

CAC?GCG

Amino acid change:

H537A | sxc-PA; H537A | sxc-PB; H537A | sxc-PC

Reported amino acid change:

H537A

Comment:

The codon 537 is changed from CAC to GCG in the mutant resulting in a H537A amino acid change. There are also silent substitutions in the next two codons. The sequence change in the region of codons 537 to 539 is CACCACTCG to GCGCATTCC.

(Mariappa et al., 2018)
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 ( 1 )
      Disease
      Interaction
      References
      model of  non-syndromic X-linked intellectual disability 106
      is ameliorated by OgaKO
      (Fenckova et al., 2022)
      Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
       
      Disease-implicated variant(s)
       
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      sxcH537A homozygotes show increased mortality during development under 30[o]C conditions, but not under 25[o]C conditions, as compared to controls. A significant proportion of homozygous adults show an ectopic wing vein, but no scutellar bristle or sex comb phenotypes, as compared to controls.

      (Mariappa et al., 2018)
      External Data
      Interactions
      Show genetic interaction network for Enhancers & Suppressors
      Phenotypic Class
      Suppressed by
      Statement
      Reference

      sxcH537A has abnormal learning | dominant | adult stage | light conditional phenotype, suppressible by OgaKO/Oga[+]

      (Fenckova et al., 2022)
      Phenotype Manifest In
      Enhanced by
      Statement
      Reference

      sxcH537A has wing vein | ectopic phenotype, enhanceable by HcfHR1/HcfHR1

      (Mariappa et al., 2018)
      Enhancer of
      Statement
      Reference

      sxcH537A/sxcH537A is an enhancer of wing vein | ectopic phenotype of HcfHR1

      (Mariappa et al., 2018)

      sxcH537A/sxcH537A is an enhancer of scutellar bristle | ectopic phenotype of HcfHR1

      (Mariappa et al., 2018)

      sxc[+]/sxcH537A is an enhancer of scutellar bristle | ectopic phenotype of skd2

      (Mariappa et al., 2018)

      sxc[+]/sxcH537A is an enhancer of sex comb | ectopic phenotype of Pc1

      (Mariappa et al., 2018)

      sxcH537A is an enhancer of sex comb | ectopic phenotype of Pc1

      (Mariappa et al., 2018)
      Other
      Additional Comments
      Genetic Interactions
      Statement
      Reference

      sxcH537A, HcfHR1 double homozygous adults show a more prevalent ectopic wing vein phenotype than either single homozygous background and a more prevalent ectopic scutellar bristle phenotype than the HcfHR1 single homozygous background.

      sxcH537A heterozygosity enhances the ectopic scutellar bristle phenotype observed in skd2 heterozygotes; sxcH537A homozygosity does not further enhance this phenotype.

      The super sex comb phenotype observed in Pc1 heterozygotes is enhanced by sxcH537A heterozygosity, which is further enhanced by sxcH537A homozygosity. sxcH537A/+, Pc1/+ individuals and sxcH537A/sxcH537A, Pc1/+ individuals do not show an ectopic scutellar bristle phenotype, as compared to controls.

      (Mariappa et al., 2018)
      Xenogenetic Interactions
      Statement
      Reference
      Complementation and Rescue Data
      Rescued by

      sxcH537A is rescued by Scer\GAL4elav.PU/sxcUAS.cMa

      (Fenckova et al., 2022)
      Comments
      Images (0)
      Mutant
      Wild-type
      Stocks (1)
      Notes on Origin
      Discoverer
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (1)
      Reported As
      Symbol Synonym
      sxcH537A
      (Zhang et al., 2023, Fenckova et al., 2022, Pravata et al., 2019, Mariappa et al., 2018, Selvan et al., 2017)
      Name Synonyms
      Secondary FlyBase IDs
        References (5)