FlyBase Allele Report: Dmel\Vps13D[ΔUBA]

General Information

Symbol

Dmel\Vps13D^ΔUBA

Species

D. melanogaster

Name

FlyBase ID

FBal0337913

Feature type

allele

Associated gene

Dmel\Vps13D

Associated Insertion(s)

Carried in Construct

Also Known As

vps13d (ΔUBA)

Key Links

Genomic Maps

JBrowse

Allele class

hypomorphic allele - genetic evidence

hypomorphic allele - molecular evidence

Mutagen

CRISPR/Cas9

Nature of the Allele

Allele class

hypomorphic allele - genetic evidence

(Anding et al., 2018)

hypomorphic allele - molecular evidence

(Anding et al., 2018)

Mutagen

CRISPR/Cas9

(Anding et al., 2018)

Progenitor genotype

Cytology

Description

Carries an in-frame deletion of the Vps13D UBA domain region.

(Anding et al., 2018)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

deletion

3L:12,763,248..12,763,400 [+]

Comment:

A 153 bp (in-frame) deletion that removes the UBA domain.

(Anding and Baehrecke, 2018.7.2)

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

partially lethal - majority live

(Anding et al., 2018)

Phenotype Manifest In

adult midgut (with Df(3L)BSC631)

(Wang et al., 2022)

endoplasmic reticulum | adult stage (with Df(3L)BSC631)

(Wang et al., 2022)

endoplasmic reticulum | prepupal stage

(Shen et al., 2021)

endoplasmic reticulum | prepupal stage (with Df(3L)BSC631)

(Shen et al., 2021)

endoplasmic reticulum | prepupal stage (with Vps13D^MI11101)

(Shen et al., 2021)

gut | prepupal stage

(Shen et al., 2021)

gut | prepupal stage (with Df(3L)BSC631)

(Shen et al., 2021)

gut | prepupal stage (with Vps13D^MI11101)

(Shen et al., 2021)

midgut | pupal stage

(Anding et al., 2018)

midgut | pupal stage (with Df(3L)BSC631)

(Anding et al., 2018)

mitochondrion | prepupal stage

(Shen et al., 2021)

mitochondrion | prepupal stage (with Df(3L)BSC631)

(Shen et al., 2021)

mitochondrion | prepupal stage (with Vps13D^MI11101)

(Shen et al., 2021)

mitochondrion | pupal stage

(Anding et al., 2018)

mitochondrion | pupal stage (with Df(3L)BSC631)

(Anding et al., 2018)

Detailed Description

Statement

Reference

Vps13D^ΔUBA homozygotes and Vps13D^ΔUBA/Df(3L)BSC631 transheterozygotes exhibit increased contact between mitochondria and ER in the intestine 2h after pupariation; the majority of the ER in contact with mitochondria is rough ER.

Vps13D^ΔUBA/Vps13D^MI11101 transheterozygotes exhibit enlarged mitochondria, and increased contact between mitochondria and ER, in the intestine 2h after pupariation.

(Shen et al., 2021)

Vps13D^ΔUBA (as well as Vps13D^ΔUBA/Df(3L)BSC631) pupal midgut cells have significantly enlarged mitochondria and show mitochondrial clearance defects.

(Anding et al., 2018)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Phenotype Manifest In

NOT Enhanced by

Statement

Reference

Vps13D^ΔUBA has gut | prepupal stage phenotype, non-enhanceable by Scer\GAL4^NP0001/Tango5^KK108366

(Shen et al., 2021)