FlyBase Allele Report: Hsap\PINK1[G309D.UAS.Tag:FLAG]

General Information

Symbol

Hsap\PINK1^{G309D.UAS.Tag:FLAG}

Species

H. sapiens

Name

FlyBase ID

FBal0196254

Feature type

allele

Associated gene

Hsap\PINK1

Associated Insertion(s)

Carried in Construct

P{UAS-PINK1.G309D.FLAG}

Key Links

Transgenic product class

missense_variant

(Wang et al., 2006)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

missense_variant

(Wang et al., 2006)

Mutagen

in vitro construct

(Wang et al., 2006)

Progenitor genotype

Carried in construct

P{UAS-PINK1.G309D.FLAG}

Cytology

Description

Amino acid replacement: G309D.

(Wang et al., 2006)

UASt sequences drive expression of a cDNA encoding the entire coding sequence of Hsap\PINK1 carrying a G309D mutation and a C-terminal Tag:FLAG tag.

(Wang et al., 2006)

Allele components

Component

Use(s)

Regulatory region(s)

UASt

binary expression system - regulatory region

Encoded product / tool

Hsap\PINK1

Tagged with

Tag:FLAG

epitope tag

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

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 )

Disease

Evidence

References

model of Parkinson's disease 6

CEC

(Zhou et al., 2022)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

exacerbates frontotemporal dementia and/or amyotrophic lateral sclerosis 2

modeled by Chchd2^S81L.UAS

(Baek et al., 2021)

Comments on Models/Modifiers Based on Experimental Evidence ( 0 )

Disease-implicated variant(s)

This allele represents a human variant implicated in disease.

(Wang et al., 2006)

PINK1:p.Gly309Asp

(FlyBase curators, 2019-)

Variants Synonym(s)

Associated human disease model(s)

Parkinson disease 6, early-onset

External database links

ClinVar: PINK1_2404

Comments concerning this variant

Phenotypic Data

Phenotypic Class

Phenotype Manifest In

Detailed Description

Statement

Reference

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

NOT Suppressor of

Statement

Reference

Hsap\PINK1^{G309D.UAS.Tag:FLAG}, Scer\GAL4^da.G32 is a non-suppressor of lethal phenotype of Pink1^RNAi.UAS.cWa, Scer\GAL4^da.G32

(Wang et al., 2006)

Hsap\PINK1^{G309D.UAS.Tag:FLAG}, Scer\GAL4^GMR.PF is a non-suppressor of visible phenotype of Pink1^RNAi.UAS.cWa, Scer\GAL4^GMR.PF

(Wang et al., 2006)

Phenotype Manifest In

NOT Suppressor of

Statement

Reference

Scer\GAL4^elav.PU/Hsap\PINK1^{G309D.UAS.Tag:FLAG} is a non-suppressor of synaptic vesicle phenotype of Pink1^B9

(Morais et al., 2009)

Hsap\PINK1^{G309D.UAS.Tag:FLAG}, Scer\GAL4^GMR.PF is a non-suppressor of ommatidium phenotype of Pink1^RNAi.UAS.cWa, Scer\GAL4^GMR.PF

(Wang et al., 2006)

Hsap\PINK1^{G309D.UAS.Tag:FLAG}, Scer\GAL4^GMR.PF is a non-suppressor of eye phenotype of Pink1^RNAi.UAS.cWa, Scer\GAL4^GMR.PF

(Wang et al., 2006)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

Expression of Hsap\PINK1^{G309D.Scer\UAS.T:Zzzz\FLAG} under the control of Scer\GAL4^elav.PU does not rescue the defects in mobilisation of the reserve pool of synaptic vesicles which are seen in Pink1^B9 mutant larvae.

(Morais et al., 2009)

Complementation and Rescue Data

Comments

Images (0)

Mutant

Wild-type

Stocks (1)

Bloomington

51650

y¹ w^*; P{UAS-PINK1.G309D.FLAG}2

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (2)

Reported As

Symbol Synonym

Hsap\PINK1^{G309D.Scer\UAS.T:Zzzz\FLAG}

Hsap\PINK1^{G309D.UAS.Tag:FLAG}

Name Synonyms

Secondary FlyBase IDs

References (6)

Report Sections

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