FlyBase Allele Report: Dmel\Sol1[bk1]

General Information

Symbol

Dmel\Sol1^bk1

Species

D. melanogaster

Name

FlyBase ID

FBal0363470

Feature type

allele

Associated gene

Dmel\Sol1

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

Mutagen

CRISPR/Cas9

Nature of the Allele

Allele class

Mutagen

CRISPR/Cas9

(Kiragasi et al., 2020)

Progenitor genotype

Cytology

Description

Deletion of a T in the codon for amino acid 23 of Sol1-RC. This leads to an immediate stop codon. The exact nature of the lesion is unclear because the sequence fidelity drops off shortly after and it is difficult to determine when the mutant sequence goes back into alignment with the wild type sequence.

(Chien and Dickman, 2021.1.11)

An InDel prior to the first CUB domain resulting in a early stop codon.

(Kiragasi et al., 2020)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

delins

3R:12,386,316..12,386,316 [+]

Comment:

The deletion of a "T" in the codon for amino acid 23 of Sol1-RC leads to immediate translation termination. The exact nature of the lesion is unclear because the sequence fidelity drops off shortly after and it is difficult to determine when the mutant sequence goes back into alignment with the wild type sequence.

(Chien and Dickman, 2021.1.11)

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 neurophysiology | third instar larval stage

(Kiragasi et al., 2020)

abnormal neurophysiology | third instar larval stage (with Df(3R)Exel7315)

(Kiragasi et al., 2020)

Phenotype Manifest In

embryonic/larval neuromuscular junction | third instar larval stage

(Kiragasi et al., 2020)

embryonic/larval neuromuscular junction | third instar larval stage (with Df(3R)Exel7315)

(Kiragasi et al., 2020)

muscle cell of A1-7 ventral longitudinal muscle 3 | third instar larval stage

(Kiragasi et al., 2020)

muscle cell of A1-7 ventral longitudinal muscle 3 | third instar larval stage (with Df(3R)Exel7315)

(Kiragasi et al., 2020)

Detailed Description

Statement

Reference

Sol1^bk1 third instar larval NMJs exhibit reduced excitatory postsynaptic potential (EPSP), excitatory postsynaptic current (EPSC) amplitudes and quantal contents.

Sol1^bk1/Df(3R)Exel7315 third instar larval NMJs exhibit reduced EPSP, EPSC and quantal contents.

(Kiragasi et al., 2020)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

NOT Enhanced by

Statement

Reference

Sol1^bk1 has abnormal neurophysiology | third instar larval stage phenotype, non-enhanceable by KaiR1D^MB01010

(Kiragasi et al., 2020)