FlyBase Allele Report: Dmel\Dsor1[F72S]

General Information

Symbol

Dmel\Dsor1^F72S

Species

D. melanogaster

Name

FlyBase ID

FBal0389307

Feature type

allele

Associated gene

Dmel\Dsor1

Associated Insertion(s)

Carried in Construct

Also Known As

mek^F53S

Key Links

Genomic Maps

JBrowse

Allele class

Mutagen

Nature of the Allele

Allele class

Mutagen

CRISPR/Cas9

(Marmion et al., 2023)

gene targeting by homologous recombination

(Marmion et al., 2023)

Progenitor genotype

Cytology

Description

Missense mutation equivalent to a F53S change in the orthologous human MAP2K1 gene, a variant identified by studies of cardiofaciocutaneous syndrome (CFCS). The chromosome also carries a protospacer motif (PAM) mutation in an intron (introduced to prevent repeated cleavage following homology directed repair).

(Marmion et al., 2023)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

X:9,248,646..9,248,646 [+]

Nucleotide change:

T9248646C

Reported nucleotide change:

T?C

Amino acid change:

F72S | Dsor1-PA; F69S | Dsor1-PB

Reported amino acid change:

F72S

Comment:

Analogous mutation in human MAP2K1 implicated in cardiofaciocutaneous syndrome 3.

(Marmion et al., 2023)

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 RASopathy

CEA

(Marmion et al., 2023)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of RASopathy

is ameliorated by grk^unspecified

(Marmion et al., 2023)

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

Disease-implicated variant(s)

This allele represents a human variant implicated in disease.

(Marmion et al., 2023)

MAP2K1:p.Phe53Ser

(FlyBase curators, 2019-)

Variants Synonym(s)

Associated human disease model(s)

External database links

ClinVar: MAP2K1_13350

Comments concerning this variant

MAP2K2:p.Phe57Ser

(FlyBase curators, 2019-)

Variants Synonym(s)

Associated human disease model(s)

RASopathies, MAP2K1,2-related

External database links

Comments concerning this variant

Phenotypic Data

Phenotypic Class

abnormal developmental rate

(Marmion et al., 2023)

increased cell number | larval stage

(Marmion et al., 2023)

majority die during embryonic stage (with Dsor1^E222K)

(Marmion et al., 2023)

some die during embryonic stage

(Marmion et al., 2023)

some die during larval stage

(Marmion et al., 2023)

visible | adult stage

(Marmion et al., 2023)

Phenotype Manifest In

crossvein | ectopic

(Marmion et al., 2023)

dorsal appendage

(Marmion et al., 2023)

embryo

(Marmion et al., 2023)

ommatidium | adult stage

(Marmion et al., 2023)

terminal tracheal cell | ectopic | larval stage

(Marmion et al., 2023)

Detailed Description

Statement

Reference

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

Dsor1^F72S has some die during embryonic stage phenotype, suppressible | partially by grk^unspecified

(Marmion 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 (0)

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (3)

Reported As

Symbol Synonym

Dsor1^F72S

MEK^F53S

(Wang et al., 2026)

mek^F53S

(Marmion et al., 2023)

Name Synonyms

Secondary FlyBase IDs

References (3)

Report Sections

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