WormBase Tree Display for Variation: WBVar00090929
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WBVar00090929 | Evidence | Paper_evidence | WBPaper00003907 | ||||
---|---|---|---|---|---|---|---|
Name | Public_name | nc6 | |||||
Other_name | H30A04.1a.2:c.390_612+177del | ||||||
H30A04.1a.1:c.390_612+177del | |||||||
H30A04.1b.1:c.390_612+177del | |||||||
HGVSg | CHROMOSOME_X:g.15517514_15518589del | ||||||
Sequence_details | SMap | S_parent | Sequence | H30A04 | |||
Flanking_sequences | gtttgatcgtactcaaaatccacgcacttt | aatgagcaaaaagctatgaactttcggatt | |||||
Mapping_target | H30A04 | ||||||
Type_of_mutation | Deletion | ||||||
SeqStatus | Sequenced | ||||||
Variation_type | Allele | ||||||
Origin | Species | Caenorhabditis elegans | |||||
Laboratory | ST | ||||||
Status | Live | ||||||
Affects | Gene | WBGene00197018 | |||||
WBGene00001148 | |||||||
Transcript | H30A04.2 | VEP_consequence | transcript_ablation | ||||
VEP_impact | HIGH | ||||||
Exon_number | 1/1 | ||||||
H30A04.1a.2 | VEP_consequence | splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant | |||||
VEP_impact | HIGH | ||||||
HGVSc | H30A04.1a.2:c.390_612+177del | ||||||
cDNA_position | 542-? | ||||||
CDS_position | 390-? | ||||||
Protein_position | 130-? | ||||||
Intron_number | 6-8/16 | ||||||
Exon_number | 6-8/17 | ||||||
H30A04.1b.1 | VEP_consequence | splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant | |||||
VEP_impact | HIGH | ||||||
HGVSc | H30A04.1b.1:c.390_612+177del | ||||||
cDNA_position | 494-? | ||||||
CDS_position | 390-? | ||||||
Protein_position | 130-? | ||||||
Intron_number | 5-7/15 | ||||||
Exon_number | 5-7/16 | ||||||
H30A04.1a.1 | VEP_consequence | splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant | |||||
VEP_impact | HIGH | ||||||
HGVSc | H30A04.1a.1:c.390_612+177del | ||||||
cDNA_position | 492-? | ||||||
CDS_position | 390-? | ||||||
Protein_position | 130-? | ||||||
Intron_number | 5-7/15 | ||||||
Exon_number | 5-7/16 | ||||||
Genetics | Interpolated_map_position | X | 22.811 | ||||
Description | Phenotype | WBPhenotype:0000019 | Paper_evidence | WBPaper00003907 | |||
Curator_confirmed | WBPerson712 | ||||||
Remark | Pumping rates were reduced about 15% from that observed for wild-type worms. | Paper_evidence | WBPaper00003907 | ||||
Curator_confirmed | WBPerson712 | ||||||
WBPhenotype:0000154 | Paper_evidence | WBPaper00003907 | |||||
Curator_confirmed | WBPerson712 | ||||||
WBPhenotype:0000293 | Paper_evidence | WBPaper00003907 | |||||
Curator_confirmed | WBPerson712 | ||||||
Remark | Animals had pale intestines. | Paper_evidence | WBPaper00003907 | ||||
Curator_confirmed | WBPerson712 | ||||||
WBPhenotype:0000324 | Paper_evidence | WBPaper00003907 | |||||
Curator_confirmed | WBPerson712 | ||||||
WBPhenotype:0000335 | Paper_evidence | WBPaper00003907 | |||||
Curator_confirmed | WBPerson712 | ||||||
WBPhenotype:0000547 | Paper_evidence | WBPaper00003907 | |||||
Curator_confirmed | WBPerson712 | ||||||
WBPhenotype:0001063 | Paper_evidence | WBPaper00003907 | |||||
Curator_confirmed | WBPerson712 | ||||||
Remark | Animals exhibited extended egg-laying periods. | Paper_evidence | WBPaper00003907 | ||||
Curator_confirmed | WBPerson712 | ||||||
Phenotype_not_observed | WBPhenotype:0000145 | Paper_evidence | WBPaper00003907 | ||||
Curator_confirmed | WBPerson712 | ||||||
Remark | No abnormalities were observed for these mutants. | Paper_evidence | WBPaper00003907 | ||||
Curator_confirmed | WBPerson712 | ||||||
WBPhenotype:0000520 | Paper_evidence | WBPaper00003907 | |||||
Curator_confirmed | WBPerson712 | ||||||
Remark | Animals showed no gross morphological defects. | Paper_evidence | WBPaper00003907 | ||||
Curator_confirmed | WBPerson712 | ||||||
WBPhenotype:0000604 | Paper_evidence | WBPaper00003907 | |||||
Curator_confirmed | WBPerson712 | ||||||
Remark | Animals showed no gross morphological defects. | Paper_evidence | WBPaper00003907 | ||||
Curator_confirmed | WBPerson712 | ||||||
WBPhenotype:0000618 | Paper_evidence | WBPaper00003907 | |||||
Curator_confirmed | WBPerson712 | ||||||
Remark | Coelomocytes were positioned correctly in comparison to control animals, further, coelomocytes retained DiI uptake ability. | Paper_evidence | WBPaper00003907 | ||||
Curator_confirmed | WBPerson712 | ||||||
WBPhenotype:0000643 | Paper_evidence | WBPaper00003907 | |||||
Curator_confirmed | WBPerson712 | ||||||
Remark | No abnormalities were observed for these mutants. | Paper_evidence | WBPaper00003907 | ||||
Curator_confirmed | WBPerson712 | ||||||
WBPhenotype:0000650 | Paper_evidence | WBPaper00003907 | |||||
Curator_confirmed | WBPerson712 | ||||||
Remark | No abnormalities were observed for these mutants. | Paper_evidence | WBPaper00003907 | ||||
Curator_confirmed | WBPerson712 | ||||||
WBPhenotype:0000709 | Paper_evidence | WBPaper00003907 | |||||
Curator_confirmed | WBPerson712 | ||||||
Remark | Animals showed no gross morphological defects. | Paper_evidence | WBPaper00003907 | ||||
Curator_confirmed | WBPerson712 | ||||||
Reference | WBPaper00003907 | ||||||
Method | Deletion_allele |