FlyBase Allele Report: Dmel\Uba5[CR00497-TG4.2]

General Information

Symbol

Dmel\Uba5^{CR00497-TG4.2}

Species

D. melanogaster

Name

FlyBase ID

FBal0340638

Feature type

allele

Associated gene

Dmel\Uba5

Associated Insertion(s)

TI{CRIMIC.TG4.2}Uba5^{CR00497-TG4.2}

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

Mutagen

Nature of the Allele

Allele class

Mutagen

CRISPR/Cas9

(Gene Disruption Project members, 2018-)

gene targeting by homologous recombination

(Gene Disruption Project members, 2018-)

Progenitor genotype

Associated Insertion(s)

TI{CRIMIC.TG4.2}Uba5^{CR00497-TG4.2}

Cytology

Description

A TI{CRIMIC.TG4.2} DNA cassette has been inserted into Uba5, in a coding intron, and is predicted to gene trap all annotated transcripts of the gene. The TI{CRIMIC.TG4.2} cassette was inserted using the CRISPR/Cas9 technique together with a donor plasmid to drive homology directed repair. The sgRNA sequence used to target the gene was: CATATTTGGAGTGCTAGCTGTGG. The homology arms of the donor plasmid used were designed such that there is a small gap between the 3' end of the 5' arm and the 5' end of the 3' arm, thus the insertion of the TI{CRIMIC.TG4.2} cassette is predicted to be accompanied by a deletion of 1bp of genomic sequence flanking the insertion site.

(Gene Disruption Project members, 2018-)

Allele components

Component

Use(s)

Inserted element

TI{CRIMIC.TG4.2}

gene trap

RMCE target element

Encoded product / tool

GAL4

binary expression system - driver

Also carries

attP

integrase target site

FRT

recombinase target site

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

insertion_site

X:11,483,974..11,483,975 [+]

(Pan et al., 2023, Gene Disruption Project members, 2018-)

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 developmental and epileptic encephalopathy 44

CEA

(Pan et al., 2023)

CEA with Hsap\UBA5^M57V.UAS

(Pan et al., 2023)

CEA with Hsap\UBA5^V260M.UAS

(Pan et al., 2023)

CEA with Hsap\UBA5^Y53F.UAS

(Pan et al., 2023)

CEA with Hsap\UBA5^R55H.UAS

(Pan et al., 2023)

CEA with Hsap\UBA5^R72C.UAS

(Pan et al., 2023)

CEA with Hsap\UBA5^C250A.UAS

(Pan et al., 2023)

CEA with Hsap\UBA5^L254P.UAS

(Pan et al., 2023)

CEA with Hsap\UBA5^Q312L.UAS

(Pan et al., 2023)

CEA with Hsap\UBA5^G168E.UAS

(Pan et al., 2023)

CEA with Hsap\UBA5^C303R.UAS

(Pan et al., 2023)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of developmental and epileptic encephalopathy 44

is ameliorated by Hsap\UBA5^A371T.UAS

(Pan et al., 2023)

is ameliorated by Hsap\UBA5^D389G.UAS

(Pan et al., 2023)

is ameliorated by Hsap\UBA5^D389Y.UAS

(Pan et al., 2023)

is ameliorated by Hsap\UBA5^UAS.cBa

(Pan et al., 2023)

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

Phenotype Manifest In

Detailed Description

Statement

Reference

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

Uba5^{CR00497-TG4.2} has lethal - all die before end of first instar larval stage | male phenotype, suppressible by Hsap\UBA5^D389G.UAS/Scer\GAL4^{Uba5-CR00497-TG4.2}

(Pan et al., 2023)

Uba5^{CR00497-TG4.2} has lethal - all die before end of first instar larval stage | male phenotype, suppressible by Scer\GAL4^{Uba5-CR00497-TG4.2}/Hsap\UBA5^A371T.UAS

(Pan et al., 2023)

Uba5^{CR00497-TG4.2} has lethal - all die before end of first instar larval stage | male phenotype, suppressible by Hsap\UBA5^Q312L.UAS/Scer\GAL4^{Uba5-CR00497-TG4.2}

(Pan et al., 2023)

Uba5^{CR00497-TG4.2} has lethal - all die before end of first instar larval stage | male phenotype, suppressible by Hsap\UBA5^V260M.UAS/Scer\GAL4^{Uba5-CR00497-TG4.2}

(Pan et al., 2023)

Uba5^{CR00497-TG4.2} has lethal - all die before end of first instar larval stage | male phenotype, suppressible by Hsap\UBA5^Y53F.UAS/Scer\GAL4^{Uba5-CR00497-TG4.2}

(Pan et al., 2023)

Uba5^{CR00497-TG4.2} has lethal - all die before end of first instar larval stage | male phenotype, suppressible by Hsap\UBA5^M57V.UAS/Scer\GAL4^{Uba5-CR00497-TG4.2}

(Pan et al., 2023)

Uba5^{CR00497-TG4.2} has lethal - all die before end of first instar larval stage | male phenotype, suppressible by Hsap\UBA5^UAS.cBa/Scer\GAL4^{Uba5-CR00497-TG4.2}

(Pan et al., 2023)

Uba5^{CR00497-TG4.2} has majority die during embryonic stage | male phenotype, suppressible by Hsap\UBA5^UAS.cBa/Scer\GAL4^{Uba5-CR00497-TG4.2}

(Pan et al., 2023)

Uba5^{CR00497-TG4.2} has some die during first instar larval stage | male phenotype, suppressible by Hsap\UBA5^UAS.cBa/Scer\GAL4^{Uba5-CR00497-TG4.2}

(Pan et al., 2023)

Uba5^{CR00497-TG4.2} has lethal - all die before end of first instar larval stage | male phenotype, suppressible by Scer\GAL4^{Uba5-CR00497-TG4.2}/Hsap\UBA5^R72C.UAS

(Pan et al., 2023)

Uba5^{CR00497-TG4.2} has lethal - all die before end of first instar larval stage | male phenotype, suppressible by Scer\GAL4^{Uba5-CR00497-TG4.2}/Hsap\UBA5^D389Y.UAS

(Pan et al., 2023)

NOT suppressed by

Statement

Reference

Uba5^{CR00497-TG4.2} has lethal - all die before end of first instar larval stage | male phenotype, non-suppressible by Hsap\UBA5^C250A.UAS/Scer\GAL4^{Uba5-CR00497-TG4.2}

(Pan et al., 2023)

Uba5^{CR00497-TG4.2} has lethal - all die before end of first instar larval stage | male phenotype, non-suppressible by Hsap\UBA5^L254P.UAS/Scer\GAL4^{Uba5-CR00497-TG4.2}

(Pan et al., 2023)

Uba5^{CR00497-TG4.2} has lethal - all die before end of first instar larval stage | male phenotype, non-suppressible by Scer\GAL4^{Uba5-CR00497-TG4.2}/Hsap\UBA5^C303R.UAS

(Pan et al., 2023)

Uba5^{CR00497-TG4.2} has lethal - all die before end of first instar larval stage | male phenotype, non-suppressible by Hsap\UBA5^G168E.UAS/Scer\GAL4^{Uba5-CR00497-TG4.2}

(Pan et al., 2023)

Uba5^{CR00497-TG4.2} has lethal - all die before end of first instar larval stage | male phenotype, non-suppressible by Hsap\UBA5^R55H.UAS/Scer\GAL4^{Uba5-CR00497-TG4.2}

(Pan et al., 2023)

Other

Statement

Reference

Hsap\UBA5^A371T.UAS, Scer\GAL4^{Uba5-CR00497-TG4.2}, Uba5^{CR00497-TG4.2} has long lived phenotype

(Pan et al., 2023)

Hsap\UBA5^M57V.UAS, Scer\GAL4^{Uba5-CR00497-TG4.2}, Uba5^{CR00497-TG4.2} has abnormal developmental rate phenotype

(Pan et al., 2023)

Hsap\UBA5^V260M.UAS, Scer\GAL4^{Uba5-CR00497-TG4.2}, Uba5^{CR00497-TG4.2} has short lived phenotype

(Pan et al., 2023)

Hsap\UBA5^V260M.UAS, Scer\GAL4^{Uba5-CR00497-TG4.2}, Uba5^{CR00497-TG4.2} has bang sensitive | adult stage phenotype

(Pan et al., 2023)

Hsap\UBA5^V260M.UAS, Scer\GAL4^{Uba5-CR00497-TG4.2}, Uba5^{CR00497-TG4.2} has decreased rate of adult locomotory behavior | progressive phenotype

(Pan et al., 2023)

Hsap\UBA5^Y53F.UAS, Scer\GAL4^{Uba5-CR00497-TG4.2}, Uba5^{CR00497-TG4.2} has abnormal developmental rate phenotype

(Pan et al., 2023)

Hsap\UBA5^Y53F.UAS, Scer\GAL4^{Uba5-CR00497-TG4.2}, Uba5^{CR00497-TG4.2} has short lived phenotype

(Pan et al., 2023)

Hsap\UBA5^Y53F.UAS, Scer\GAL4^{Uba5-CR00497-TG4.2}, Uba5^{CR00497-TG4.2} has bang sensitive | adult stage phenotype

(Pan et al., 2023)

Hsap\UBA5^Y53F.UAS, Scer\GAL4^{Uba5-CR00497-TG4.2}, Uba5^{CR00497-TG4.2} has decreased rate of adult locomotory behavior | progressive phenotype

(Pan et al., 2023)

Hsap\UBA5^M57V.UAS, Scer\GAL4^{Uba5-CR00497-TG4.2}, Uba5^{CR00497-TG4.2} has short lived phenotype

(Pan et al., 2023)

Hsap\UBA5^M57V.UAS, Scer\GAL4^{Uba5-CR00497-TG4.2}, Uba5^{CR00497-TG4.2} has bang sensitive | adult stage phenotype

(Pan et al., 2023)

Hsap\UBA5^M57V.UAS, Scer\GAL4^{Uba5-CR00497-TG4.2}, Uba5^{CR00497-TG4.2} has decreased rate of adult locomotory behavior | progressive phenotype

(Pan et al., 2023)

Hsap\UBA5^Q312L.UAS, Scer\GAL4^{Uba5-CR00497-TG4.2}, Uba5^{CR00497-TG4.2} has short lived phenotype

(Pan et al., 2023)

Hsap\UBA5^Q312L.UAS, Scer\GAL4^{Uba5-CR00497-TG4.2}, Uba5^{CR00497-TG4.2} has decreased rate of adult locomotory behavior | progressive phenotype

(Pan et al., 2023)

Hsap\UBA5^R72C.UAS, Scer\GAL4^{Uba5-CR00497-TG4.2}, Uba5^{CR00497-TG4.2} has short lived phenotype

(Pan et al., 2023)

Hsap\UBA5^R72C.UAS, Scer\GAL4^{Uba5-CR00497-TG4.2}, Uba5^{CR00497-TG4.2} has decreased rate of adult locomotory behavior | progressive phenotype

(Pan et al., 2023)

Hsap\UBA5^V260M.UAS, Scer\GAL4^{Uba5-CR00497-TG4.2}, Uba5^{CR00497-TG4.2} has abnormal developmental rate phenotype

(Pan et al., 2023)

Phenotype Manifest In

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Comments

Images (0)

Mutant

Wild-type

Stocks (1)

Bloomington

78928

y¹ w^* TI{CRIMIC.TG4.2}Uba5^{CR00497-TG4.2}/FM7h

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (2)

Reported As

Symbol Synonym

Uba5^{CR00497-TG4.2}

Uba5^T2A-Gal4

(Pan et al., 2023)

Name Synonyms

Secondary FlyBase IDs

References (2)

Report Sections

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