FlyBase Allele Report: Dmel\Vps16A[ma-1]

General Information

Symbol

Dmel\Vps16A^ma-1

Species

D. melanogaster

Name

FlyBase ID

FBal0011973

Feature type

allele

Associated gene

Dmel\Vps16A

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

Mutagen

spontaneous

Nature of the Allele

Allele class

Mutagen

spontaneous

Progenitor genotype

Cytology

Description

Amino acid replacement: M4I.

(Grant et al., 2016)

Nucleotide substitution: G9267133A.

(Grant et al., 2016)

The mutant DNA contains three missense substitutions (given nucleotides are from chromosome arm 3R, r6) and a deletion of 9bp resulting in loss of three contiguous amino acids ( 3R:9268607-9268615 , aa 422-424) in Vps16A. The cause of impaired protein function is unclear: the first two substitutions (M4I and A24T) are not conservative and are found in variable regions in the protein; the aspartic acid of the E712D substitution is found in the corresponding site in the majority of Drosophila species and in many other species; the deletion sequence is in a region with moderately conservative changes between amino acids and lies between two regions that are conserved from fly to man.

(Grant et al., 2016)

Amino acid replacement: A24T.

(Grant et al., 2016)

Nucleotide substitution: G9267260A.

(Grant et al., 2016)

Amino acid replacement: E712D.

(Grant et al., 2016)

Nucleotide substitution: A9269662T.

(Grant et al., 2016)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

deletion

3R:9,268,614..9,268,622 [+]

Comment:

One of four lesions identified in Vps16A in mutant strain. Not clear which is responsible for impaired protein function. (Curator Note - The deletion is reported as extending from 3R:9268607-9268615 and removiing aa 422-424, but has been mapped to 3R:9268614..9268622:1 , which removes amino acids 422-424 in the R6 genome).

(Grant et al., 2016)

point_mutation

3R:9,267,133..9,267,133 [+]

Nucleotide change:

G9267133A

Amino acid change:

M4I | Vps16A-PA

Reported amino acid change:

M4I

Comment:

One of four lesions identified in Vps16A in mutant strain. Not clear which is responsible for impaired protein function.

(Grant et al., 2016)

point_mutation

3R:9,267,260..9,267,260 [+]

Nucleotide change:

G9267260A

Amino acid change:

A24T | Vps16A-PA

Reported amino acid change:

A24T

Comment:

One of four lesions identified in Vps16A in mutant strain. Not clear which is responsible for impaired protein function.

(Grant et al., 2016)

point_mutation

3R:9,269,662..9,269,662 [+]

Nucleotide change:

A9269662T

Amino acid change:

E712D | Vps16A-PA

Reported amino acid change:

E712D

Comment:

One of four lesions identified in Vps16A in mutant strain. Not clear which is responsible for impaired protein function.

(Grant et al., 2016)

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

abnormal eye color

(Grant et al., 2016)

visible | adult stage

(Grant et al., 2016)

Phenotype Manifest In

eye

(Grant et al., 2016)

Malpighian tubule

(Beadle, 1937)

pigment cell

Detailed Description

Statement

Reference

Vps16A^ma-1 homozygous adults display eye color defects ('maroon' eye color).

(Grant et al., 2016)

Wild-type levels of aldehyde oxidase and xanthine dehydrogenase activity.

(Hickey and Singh, 1982)

Malpighian tubule colour: pale yellow.

(Beadle, 1937)

Eye color autonomous in transplant into wild-type host.

(Beadle and Ephrussi, 1936)

Eye colour: dull ruby, approaching wild type with age.

External Data

Linkouts

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

Rescued by

Vps16A^ma-1 is rescued by Vps16A^UAS.cGa/Scer\GAL4^GMR.PF

(Grant et al., 2016)

Comments

The eye color defect ('maroon' eyes) characteristic for Vps16A^ma-1 homozygous adults is rescued by expression of Vps16A^UAS.cGa under the control of Scer\GAL4^GMR.PF.

(Grant et al., 2016)

Images (2)

Holtzman, S. and Kaufman, T. (2013)

Mutant

Wild-type