FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\ShmtX238
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General Information
Symbol
Dmel\ShmtX238
Species
D. melanogaster
Name
FlyBase ID
FBal0327218
Feature type
allele
Associated gene
Dmel\Shmt
Associated Insertion(s)
Carried in Construct
Key Links
Genomic Maps

Allele class

loss of function allele

Mutagen
Nature of the Allele
Allele class

loss of function allele

(Winkler et al., 2017)
Mutagen
ethyl methanesulfonate
(Winkler et al., 2017)
Progenitor genotype
Cytology
Description

Amino acid replacement: Q470term.

(Winkler et al., 2017)

Causes a premature stop codon: Q470Stop (long protein isoform); Q400Stop (short protein isoform).

(Winkler et al., 2017)

Nucleotide substitution: G?A.

(Winkler et al., 2017)
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
X:5,913,403..5,913,403 [-]
Nucleotide change:

C5913403T

Reported nucleotide change:

G?A

Amino acid change:

Q470term | Shmt-PA; Q400term | Shmt-PB; Q400term | Shmt-PC

Reported amino acid change:

Q470term

Comment:

The nucleotide change was reported with respect to the antisense strand. The amino acid change was reported for both the long and short isoforms.

(Winkler et al., 2017)
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
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Embryos from mothers carrying ShmtX238 mutant germ-line clones develop normally until the blastoderm stage but they do not undergo cellularization and do not develop further, also no structured cuticle material is observed in these embryos. The embryos arrest in interphase 13 and miss the last nuclear division in mitosis 13. Although the number of centrosomes in the mutant embryos seems to be normal, in later stages their association with nuclei is broken due to widespread nuclear fallout, the nuclei acquire irregular shape and lose their regular cortical alignment. Furthermore, the mutant embryos show nuclear retention of kuk mRNA (reminiscent of UV-induced stress response) as well as slam mRNA.

      ShmtX238 mutant hemizygous males (derived from heterozygous mothers) are lethal and do not reach adulthood.

      Clones of ShmtX238 mutant cells induced in leg or wing imaginal discs or in the ovarial follicle epithelium can be recovered and do not display obvious growth defects.

      (Winkler et al., 2017)
      External Data
      Interactions
      Show genetic interaction network for Enhancers & Suppressors
      Phenotypic Class
      Suppressed by
      Statement
      Reference

      ShmtX238 has lethal phenotype, suppressible by Ecol\glyA+tWa

      (Winkler et al., 2017)
      Phenotype Manifest In
      Additional Comments
      Genetic Interactions
      Statement
      Reference
      Xenogenetic Interactions
      Statement
      Reference

      The lethality of ShmtX238 hemizygous males (derived form heterozygous mothers) can be rescued by combination with Ecol\glyA+tWa.

      (Winkler et al., 2017)
      Complementation and Rescue Data
      Fails to complement

      ShmtA

      (Winkler et al., 2017)
      Rescued by

      ShmtX238 is rescued by Shmt+t4.9

      (Winkler et al., 2017)
      Not rescued by

      ShmtX238 is not rescued by ShmtE130Q

      (Winkler et al., 2017)
      Comments

      The lethality of ShmtA mutants is not complemented by combination with ShmtX238.

      The lethality of ShmtX238 hemizygous males (derived from heterozygous mothers) can be rescued by combination with Shmt+t4.9 but not ShmtE130Q.

      (Winkler et al., 2017)
      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
      SHMTX238
      (Winkler et al., 2017)
      ShmtX238
      Name Synonyms
      Secondary FlyBase IDs
        References (1)