FlyBase Allele Report: Dmel\eIF4E1[67Af]

General Information

Symbol

Dmel\eIF4E1^67Af

Species

D. melanogaster

Name

FlyBase ID

FBal0009716

Feature type

allele

Associated gene

Dmel\eIF4E1

Associated Insertion(s)

Carried in Construct

Also Known As

l(3)67Af¹

Key Links

Genomic Maps

JBrowse

Allele class

loss of function allele

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

loss of function allele

(Hernandez et al., 2004)

Mutagen

ethyl methanesulfonate

Progenitor genotype

Cytology

Description

Point mutation (G to A) in the splice acceptor site of the second intron. This mutation is predicted to result in a nonsense reading of the open reading frames of both the eIF-4E 1 and 2 isoforms.

(Hernandez et al., 2004)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

3L:9,400,954..9,400,954 [-]

Nucleotide change:

G9400954A

Amino acid change:

G?A

Comment:

A AG to AA mutation in the splice acceptor site of the second intron.

(Hernandez et al., 2004)

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

(Arquier et al., 2005, Lachance et al., 2002)

abnormal developmental rate, with eIF4E1^{Ser251Ala.t8.9}

(Lachance et al., 2002)

female sterile | germline clone

(Hernandez et al., 2004)

increased cell death | embryonic stage

(Hernandez et al., 2004)

lethal (with Df(3L)29A6)

(Hernandez et al., 2005)

lethal - all die before end of first instar larval stage

(Arquier et al., 2005)

lethal - all die before end of first instar larval stage (with eIF4E1^Scim-a)

(Arquier et al., 2005)

lethal - all die before end of larval stage | recessive

(Lachance et al., 2002)

lethal - all die during embryonic stage | recessive

(Hernandez et al., 2004)

partially lethal, with eIF4E1^{Ser251Ala.t8.9}

(Lachance et al., 2002)

some die during embryonic stage | recessive

(Hernandez et al., 2004)

some die during first instar larval stage

(Arquier et al., 2005)

some die during first instar larval stage (with eIF4E1^Scim-a)

(Arquier et al., 2005)

some die during larval stage | recessive

(Lachance et al., 2002)

visible, with eIF4E1^{Ser251Ala.t8.9}

(Lachance et al., 2002)

Phenotype Manifest In

wing, with eIF4E1^{Ser251Ala.t8.9}

(Lachance et al., 2002)

Detailed Description

Statement

Reference

Developmental arrest at first larval instar.

(Arquier et al., 2005)

Females containing homozygous germline clones are sterile with no germ cell development.

Homozygotes generally die during embryogenesis, although some individuals survive up to the state of early first instar larvae.

Homozygous embryos show widespread DNA fragmentation from stage 10 to 12 compared to control embryos, indicating increased cell death.

(Hernandez et al., 2004)

Development is arrested in the first larval instar, although the larvae survive for several days. Developmental delay with eIF-4E^{Ser251Ala.t8.9} is 1 to 2 days.

(Lachance et al., 2002)

Hemizygotes die as embryos.

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

eIF4E1^67Af/eIF4E1^Scim-a has lethal | larval stage phenotype, suppressible by Scer\GAL4^da.G32/Lk6^T424D.UAS

(Arquier et al., 2005)