FlyBase Allele Report: Dmel\PolG1[H1038A]

General Information

Symbol

Dmel\PolG1^H1038A

Species

D. melanogaster

Name

FlyBase ID

FBal0323343

Feature type

allele

Associated gene

Dmel\PolG1

Associated Insertion(s)

TI{TI}PolG1^H1038A

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

Mutagen

phiC31 integrase

Nature of the Allele

Allele class

Mutagen

phiC31 integrase

(Bratic et al., 2015)

Progenitor genotype

PolG1^KO

(Bratic et al., 2015)

Associated Insertion(s)

TI{TI}PolG1^H1038A

Cytology

Description

Mutated tam at the endogenous locus: carries a mutation in a highly conserved residue (amino acid replacement H1038A). Generated by re-integration of DNA into the attP site present in tam^KO. Additional sequences inserted during the re-integration event are also present: 1. a loxP cassette containing the w^GMR.PHb marker, upstream of tam, 2. a single attR site, downstream of tam.

(Bratic et al., 2015)

Allele components

Component

Use(s)

Also carries

loxP

recombinase target site

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

MNV

2L:13,824,464..13,824,466 [-]

Nucleotide change:

CAT13824466GCT

Reported nucleotide change:

CA?GC

Reported amino acid change:

H1038A

Comment:

CA to GC nucleotide change leads to a H1038A mutation in the reintroduced copy of the PolG1 gene at the endogenous site.

(Bratic et al., 2015)

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 developmental rate | maternal effect (with PolG1^D263A)

(Bratic et al., 2015)

decreased body size | larval stage (with PolG1^KO)

(Bratic et al., 2015)

decreased body size | third instar larval stage

(Bratic et al., 2015)

lethal - all die before end of P-stage (with PolG1³)

(Bratic et al., 2015)

lethal - all die before end of P-stage (with PolG1⁴)

(Bratic et al., 2015)

lethal - all die during third instar larval stage

(Bratic et al., 2015)

majority die during third instar larval stage (with PolG1^KO)

(Bratic et al., 2015)

some die during P-stage (with PolG1^KO)

(Bratic et al., 2015)

viable (with PolG1^D263A)

(Bratic et al., 2015)

viable (with PolG1^Q1009A)

(Bratic et al., 2015)

viable (with PolG1^Rescue)

(Bratic et al., 2015)

Phenotype Manifest In

Detailed Description

Statement

Reference

tam^H1038A/tam^H1038A mutants die in the third instar stage and exhibit significantly lower body weight, as compared to controls.

tam^H1038A/+ flies do not exhibit a significant increase in mtDNA mutation frequency, as compared to wild type. tam^H1038A/tam^H1038A, but not tam^H1038A/+, mutants exhibit a severe reduction in mtDNA levels, as compared to wild type.

tam^H1038A/tam^D263A flies do not exhibit any significant difference in body weight or mtDNA levels as compared to controls, but do exhibit a significant increase in mtDNA mutation frequency, and offspring of tam^H1038A/tam^D263A mothers exhibit a significant developmental delay.

tam^KO/tam^Q1009A and tam^KO/tam^H1038A mutants exhibit lethality, with most individuals dying in the third instar larval stage, and the remainder dying during pupal stage; and larvae exhibit a significant decrease in body weight, as compared to controls.

tam^Rescue/tam^H1038A mutants do not exhibit a significant difference in mtDNA levels, as compared to wild type.

tam⁴/tam^H1038A and tam³/tam^H1038A mutants exhibit complete lethality.

(Bratic et al., 2015)

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

Complements

PolG1^D263A

(Bratic et al., 2015)

Comments

tam^H1038A complements tam^D263A, tam^Rescue, but not tam^Q1009A, to produce viable flies.

(Bratic et al., 2015)

Images (0)

Mutant

Wild-type

Stocks (0)

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (3)

Reported As

Symbol Synonym

H1038A

(Kauppila et al., 2018)

PolG1^H1038A

tam^H1038A

Name Synonyms

Secondary FlyBase IDs

References (2)

Report Sections

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