FlyBase Allele Report: Dmel\caz[Q349X.UAS.Tag:HA]

UASt regulatory sequences drive expression of caz that carries the Q349X mutation that results in a premature stop codon (this lesion equivalent to the disease-related R495X variant of the human Hsap\FUS ortholog). The protein is tagged at the N-terminal end with Tag:HA.

(Jäckel et al., 2015)

Allele components

Component

Use(s)

Regulatory region(s)

UASt

binary expression system - regulatory region

Encoded product / tool

caz

Tagged with

Tag:HA

epitope tag

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

X:16,293,040..16,293,040 [+]

Nucleotide change:

C16293040T

Amino acid change:

Q349term | caz-PB; Q334term | caz-PC; Q305term | caz-PD

Reported amino acid change:

Q349term

Comment:

Q349TERM mutation reported relative to caz-PB. Analogous mutation in human FUS implicated in amyotrophic lateral sclerosis 6; mutation carried on in vitro construct; site of nucleotide substitution in fly gene and specific disease association inferred by FlyBase curator.

(Jäckel 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 ( 1 )

Disease

Evidence

References

DOES NOT model amyotrophic lateral sclerosis type 6

CEA

(Jäckel et al., 2015)

DOES NOT model frontotemporal dementia

CEA

(Jäckel et al., 2015)

Modifiers Based on Experimental Evidence ( 0 )

Disease

Interaction

References

Comments on Models/Modifiers Based on Experimental Evidence ( 1 )

The Q349X mutation of caz is analogous to the R495X mutation of Hsap\FUS that frequently occurs in both familial and sporadic cases of amyotrophic lateral sclerosis and frontotemporal dementia, but almost no neurodegenerative phenotype is observed when this mutation is introduced into flies.

(Jäckel et al., 2015)

Disease-implicated variant(s)

This allele represents a human variant implicated in disease.

(Jäckel et al., 2015)

Not strictly analogous mutation in Drosophia; premature termination in same general region of the respective proteins.

FUS:p.Arg495Ter

(FlyBase curators, 2019-)

Variants Synonym(s)

FUS:p.Arg491Ter

FUS:p.Arg494Ter

Associated human disease model(s)

amyotrophic lateral sclerosis 6 with or without frontotemporal dementia

External database links

ClinVar: FUS_29707 ClinVar: FUS_89197

Comments concerning this variant

Phenotypic Data

Phenotypic Class

visible, with Scer\GAL4^GMR.PF

(Jäckel et al., 2015)

Phenotype Manifest In

eye, with Scer\GAL4^GMR.PF

(Jäckel et al., 2015)

Detailed Description

Statement

Reference

Expression of caz^{Q349X.Scer\UAS.T:Ivir\HA1} driven by Scer\GAL4^GMR.PF results in a mild rough eye phenotype with mild ommatidial defects.

(Jäckel 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

Comments

Images (0)

Mutant

Wild-type

Stocks (0)

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (2)

Reported As

Symbol Synonym

caz^{Q349X.Scer\UAS.T:Ivir\HA1}

caz^{Q349X.UAS.Tag:HA}

Name Synonyms

Secondary FlyBase IDs

References (2)

Report Sections

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