FlyBase Allele Report: Dmel\Cubn2[E3-1]

General Information

Symbol

Dmel\Cubn2^E3-1

Species

D. melanogaster

Name

FlyBase ID

FBal0371569

Feature type

allele

Associated gene

Dmel\Cubn2

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

loss of function allele

Mutagen

CRISPR/Cas9

Nature of the Allele

Allele class

loss of function allele

(Atienza-Manuel et al., 2021)

Mutagen

CRISPR/Cas9

(Atienza-Manuel et al., 2021)

Progenitor genotype

Cytology

Description

Deletion producing a frameshift followed by a premature stop codon, resulting in expression of a Cubn2 protein truncated after the first CUB domain (605 wild type amino acids, followed by 21 novel amino acids).

(Atienza-Manuel et al., 2021)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

deletion

3L:11,812,288..11,812,297 [-]

Comment:

A 10bp deletion in ubn2 that causes a frameshift in codon D605 and leads to early translation termination after the addition of 21 novel amino acids.

(Atienza-Manuel et al., 2021)

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)

Phenotypic Data

Phenotypic Class

viable

(Atienza-Manuel et al., 2021)

Phenotype Manifest In

Detailed Description

Statement

Reference

Cubn2^E3-1 homozygous larval nephrocytes exhibit a decrease in the number of slit diaphragms in the cortical region, and are not strictly confined to the entrance of labyrinthine channels but are also found at internal ectopic positions; the subcortical region occupied by labyrinthine channels, clathrin-coated vesicles and pits, tubules, and α-vacuoles is less compact than in controls; the subcortical region seems to be occupied by membrane ingressions containing SD-like densities, suggesting elongated labyrinthine channels; vacuoles and mitochondria are regularly distributed throughout the cytoplasm instead of being confined to the transition zone; nuclei are displaced from their central position; and multilaminar structures are frequently observed.

(Atienza-Manuel et al., 2021)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Phenotype Manifest In

NOT Enhanced by

Statement

Reference

Cubn2^E3-1 has nephrocyte diaphragm | larval stage phenotype, non-enhanceable by Cubn^B2/Cubn^B2

(Atienza-Manuel et al., 2021)