WormBase Tree Display for Variation: WBVar00054147
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WBVar00054147 | Evidence | Paper_evidence | WBPaper00005871 | |||||
---|---|---|---|---|---|---|---|---|
WBPaper00004414 | ||||||||
Person_evidence | WBPerson1687 | |||||||
Name | Public_name | cg119 | ||||||
HGVSg | CHROMOSOME_V:g.12909170_12912298del | |||||||
Sequence_details | SMap | S_parent | Sequence | F54F3 | ||||
Flanking_sequences | atcatcattgttgactgtcttccttggttt | ccccgaatgtctacaatggattccaactga | ||||||
Mapping_target | F54F3 | |||||||
Type_of_mutation | Deletion | |||||||
SeqStatus | Sequenced | |||||||
Variation_type | Allele | |||||||
Origin | Species | Caenorhabditis elegans | ||||||
Strain | WBStrain00005030 | |||||||
WBStrain00047763 | ||||||||
WBStrain00047765 | ||||||||
WBStrain00047766 | ||||||||
Laboratory | CH | |||||||
Person | WBPerson1687 | |||||||
Status | Live | |||||||
Affects | Gene | WBGene00003738 | ||||||
Transcript | F54F3.1b.1 | VEP_consequence | splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant | |||||
VEP_impact | HIGH | |||||||
cDNA_position | ?-1413 | |||||||
CDS_position | ?-1402 | |||||||
Protein_position | ?-468 | |||||||
Intron_number | 2-7/16 | |||||||
Exon_number | 1-8/17 | |||||||
F54F3.1a.1 | VEP_consequence | splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant | ||||||
VEP_impact | HIGH | |||||||
cDNA_position | ?-1407 | |||||||
CDS_position | ?-1402 | |||||||
Protein_position | ?-468 | |||||||
Intron_number | 2-7/17 | |||||||
Exon_number | 1-8/18 | |||||||
F54F3.1c.1 | VEP_consequence | splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant | ||||||
VEP_impact | HIGH | |||||||
cDNA_position | ?-1413 | |||||||
CDS_position | ?-1402 | |||||||
Protein_position | ?-468 | |||||||
Intron_number | 2-7/13 | |||||||
Exon_number | 1-8/14 | |||||||
Interactor | WBInteraction000502165 | |||||||
WBInteraction000502168 | ||||||||
WBInteraction000558094 | ||||||||
WBInteraction000558099 | ||||||||
WBInteraction000558100 | ||||||||
WBInteraction000558105 | ||||||||
WBInteraction000573247 | ||||||||
Genetics | Interpolated_map_position | V | 4.72664 | |||||
Mapping_data | In_multi_point | 4535 | ||||||
Description | Phenotype | WBPhenotype:0000616 | Paper_evidence | WBPaper00042396 | ||||
Curator_confirmed | WBPerson1687 | |||||||
Remark | GABAergic neuromuscular junctions (NMJs) are elongated, morphologically abnormal | Paper_evidence | WBPaper00042396 | |||||
Curator_confirmed | WBPerson1687 | |||||||
Recessive | Paper_evidence | WBPaper00042396 | ||||||
Curator_confirmed | WBPerson1687 | |||||||
Variation_effect | Null | Paper_evidence | WBPaper00042396 | |||||
Curator_confirmed | WBPerson1687 | |||||||
EQ_annotations (2) | ||||||||
WBPhenotype:0000709 | Paper_evidence | WBPaper00032026 | ||||||
Curator_confirmed | WBPerson2021 | |||||||
Remark | Arrested larvae of nid-1 mutants have sometimes bent pharynges | Paper_evidence | WBPaper00032026 | |||||
Curator_confirmed | WBPerson2021 | |||||||
Variation_effect | Null | Paper_evidence | WBPaper00032026 | |||||
Curator_confirmed | WBPerson2021 | |||||||
EQ_annotations (2) | ||||||||
Phenotype_assay | Genotype | urEx131[LAM-1::GFP] | Paper_evidence | WBPaper00032026 | ||||
Curator_confirmed | WBPerson2021 | |||||||
WBPhenotype:0001224 | Paper_evidence | WBPaper00053867 | ||||||
Curator_confirmed | WBPerson557 | |||||||
Remark | Axon guidance defects of ventral nerve cord axons. | Paper_evidence | WBPaper00053867 | |||||
Curator_confirmed | WBPerson557 | |||||||
WBPhenotype:0001748 | Paper_evidence | WBPaper00032026 | ||||||
Curator_confirmed | WBPerson2021 | |||||||
Remark | Pharynges do not attach to the hypoderm | Paper_evidence | WBPaper00032026 | |||||
Curator_confirmed | WBPerson2021 | |||||||
Variation_effect | Null | Paper_evidence | WBPaper00032026 | |||||
Curator_confirmed | WBPerson2021 | |||||||
EQ_annotations (2) | ||||||||
Phenotype_assay | Genotype | urEx131[LAM-1::GFP] | Paper_evidence | WBPaper00032026 | ||||
Curator_confirmed | WBPerson2021 | |||||||
WBPhenotype:0001785 | Paper_evidence | WBPaper00046360 | ||||||
Curator_confirmed | WBPerson3142 | |||||||
Reference (12) | ||||||||
Remark | cg119 deletion removes exons 1-7 of the nid-1 coding region plus 948 bp upstream of the ATG and is a molecular null for NID-1 | Paper_evidence | WBPaper00005871 | |||||
Tc1 excision | Person_evidence | WBPerson1687 | ||||||
Method | Deletion_allele |