FlyBase Allele Report: Dmel\Upf2[25G]

General Information

Symbol

Dmel\Upf2^25G

Species

D. melanogaster

Name

FlyBase ID

FBal0264868

Feature type

allele

Associated gene

Dmel\Upf2

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

Mutagen

ethyl methanesulfonate

(Long et al., 2010, Metzstein and Krasnow, 2006)

Progenitor genotype

Cytology

Description

Upf2^25G encodes a Upf2 protein with a 15-residue C-terminal extension.

(Metzstein and Krasnow, 2006)

Amino acid replacement: T?A.

(Metzstein and Krasnow, 2006)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

X:8,071,287..8,071,287 [-]

Nucleotide change:

T8071287A

Reported nucleotide change:

T?A

Amino acid change:

term1242R | Upf2-PA

Reported amino acid change:

term1242R

Comment:

T to A mutation in stop codon leads to a 15 residue C-terminal extension.

(Metzstein and Krasnow, 2006)

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

Phenotype Manifest In

dorsal appendage

(Avery et al., 2011)

follicle cell | somatic clone

(Avery et al., 2011)

Detailed Description

Statement

Reference

12.1% of eggs derived from homozygous female germlines show a fused dorsal appendage phenotype.

Homozygous follicle cell clones are smaller than wild-type clones both in early, proliferating egg chambers and in late, endocycling egg chambers.

Mutants often successfully manage to pupate, but most adults die before full eclosion.

(Avery et al., 2011)

Upf2^25G mutants exhibit a mean EJC amplitude of 36.1nA compared to 75.2nA in controls.

Application of FM1-43 dye after a 20Hz, 1 minute stimulation reveals a reduction in dye uptake in Upf2^25G mutants.

(Long et al., 2010)

Upf2^25G mutant adults appear morphologically normal but exhibit greatly reduced fertility.

There are no defects in sex determination in adult males hemizygous for Upf2^25G, despite the observed increase in tra-L levels: sex-specific splicing of downstream dsx is normal, as is that of the sex determination genes Sxl and msl-2; sex combs and genitalia appear normal; and males make sperm and are capable of mating.

Homozygous Upf2^25G females appear normal.

(Metzstein and Krasnow, 2006)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Phenotype Manifest In

Additional Comments

Genetic Interactions

Statement

Reference