FlyBase Allele Report: Dmel\shf[919]

General Information

Symbol

Dmel\shf⁹¹⁹

Species

D. melanogaster

Name

FlyBase ID

FBal0032716

Feature type

allele

Associated gene

Dmel\shf

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

Mutagen

Nature of the Allele

Allele class

Mutagen

Progenitor genotype

Cytology

Description

In addition to a point mutation (C363S), there is a 10 bp deletion in the second intron.

(Glise et al., 2005)

Amino acid replacement: C363S.

(Glise et al., 2005, Gorfinkiel et al., 2005)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

X:6,772,047..6,772,047 [-]

Nucleotide change:

T6772047A

Amino acid change:

C363S | shf-PA; C367S | shf-PB; C346S | shf-PC; C350S | shf-PD

Reported amino acid change:

C363S

Comment:

T to A nucleotide change at the first position or a G to C change at the second position of the Cys codon leads to a Ser (exact site of mutation unspecified). The mutation has been annotated at the first nucleotide of the codon. There is also a 10 bp deletion in the second intron.

(Glise et al., 2005, Gorfinkiel et al., 2005)

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

lethal - all die during embryonic stage