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WormBase Tree Display for Variation: WBVar00250481

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Name Class

WBVar00250481NamePublic_nametm1489
HGVSgCHROMOSOME_III:g.10754897_10755568del
Sequence_detailsSMapS_parentSequenceK01G5
Flanking_sequencestgaaaataggagaataatcgaacaaaaatcaaaaatatggaataaagattcgaacaatat
Mapping_targetK01G5
Source_location7CHROMOSOME_III1075489610755569Inferred_automaticallyNational_Bioresource_Project
Type_of_mutationDeletion
PCR_producttm1489_external
tm1489_internal
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00027510
WBStrain00027526
WBStrain00030669
WBStrain00030670
WBStrain00051702
WBStrain00055798
LaboratoryFX
AS
AuthorMitani S
DB_infoDatabaseNational_Bioresource_Projectseq1489
NBP_allele
StatusLive
AffectsGeneWBGene00001996
WBGene00305495
TranscriptK01G5.2b.1VEP_consequencesplice_acceptor_variant,splice_donor_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant
VEP_impactHIGH
Intron_number2-3/7
Exon_number1-3/8
K01G5.2a.1VEP_consequencesplice_acceptor_variant,splice_donor_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant
VEP_impactHIGH
Intron_number2-3/5
Exon_number1-3/6
K01G5.2c.1VEP_consequencesplice_acceptor_variant,splice_donor_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant
VEP_impactHIGH
Intron_number2-3/7
Exon_number1-3/8
K01G5.13
Interactor (38)
IsolationMutagenTMP/UV
GeneticsMapIII
DescriptionPhenotypeWBPhenotype:0000059Paper_evidenceWBPaper00038168
Curator_confirmedWBPerson712
RemarkAnimals show larval arrest at 26 deg C.Paper_evidenceWBPaper00038168
Curator_confirmedWBPerson712
Temperature_sensitiveHeat_sensitive26Paper_evidenceWBPaper00038168
Curator_confirmedWBPerson712
WBPhenotype:0000061Paper_evidenceWBPaper00040560
Curator_confirmedWBPerson557
Phenotype_assayTreatmenthpl-2(tm1489) animals raised at 20C and shifted to 25C at the L4 stage.Paper_evidenceWBPaper00040560
Curator_confirmedWBPerson557
WBPhenotype:0000105Paper_evidenceWBPaper00038257
Curator_confirmedWBPerson712
Remark1% of hpl-2 worms had no oocytes and 2% displayed failures in gonad elongation, 32% showed defects in oocyte maturation or fertilization (n = 88).Paper_evidenceWBPaper00038257
Curator_confirmedWBPerson712
PenetranceIncompletePaper_evidenceWBPaper00038257
Curator_confirmedWBPerson712
WBPhenotype:0000137Paper_evidenceWBPaper00040560
Curator_confirmedWBPerson557
Remarkhpl-2 regulates sms-3 mRNA levels. sms-3 (involved in phospholipid metabolism) is downregulated in hpl-2 mutants.Paper_evidenceWBPaper00040560
Curator_confirmedWBPerson557
WBPhenotype:0000154Paper_evidenceWBPaper00038257
Curator_confirmedWBPerson712
RemarkAnimals exhibit reduced brood size at 20 and 24.5 degrees C. The phenotype is stronger at the higher temperature.Paper_evidenceWBPaper00038257
Curator_confirmedWBPerson712
PenetranceIncompletePaper_evidenceWBPaper00038257
Curator_confirmedWBPerson712
Temperature_sensitiveHeat_sensitive24.5Paper_evidenceWBPaper00038257
Curator_confirmedWBPerson712
WBPhenotype:0000357Paper_evidenceWBPaper00038257
Curator_confirmedWBPerson712
Remark1% of hpl-2 worms had no oocytes and 2% displayed failures in gonad elongation, 32% showed defects in oocyte maturation or fertilization (n = 88).Paper_evidenceWBPaper00038257
Curator_confirmedWBPerson712
PenetranceIncompletePaper_evidenceWBPaper00038257
Curator_confirmedWBPerson712
WBPhenotype:0000688Paper_evidenceWBPaper00038257
Person_evidenceWBPerson7743
Curator_confirmedWBPerson712
RemarkComments to the National Bioresource Project of Japan: 1) Dr. R.H. Horvitz : not completely penetrant multivulva. 2) Dr. M. Han: WT at 20 degree, partial Muv at 25 degree.Person_evidenceWBPerson7743
Curator_confirmedWBPerson712
Laboratory_evidenceMT
MH
hpl-2 mutation caused some sterility of worms (13%) that was enhanced at higher temperature (25% at 24.5 degrees C).Paper_evidenceWBPaper00038257
Curator_confirmedWBPerson712
PenetranceIncompletePaper_evidenceWBPaper00038257
Curator_confirmedWBPerson712
Temperature_sensitiveHeat_sensitive25Person_evidenceWBPerson7743
Curator_confirmedWBPerson712
24.5Paper_evidenceWBPaper00038257
Curator_confirmedWBPerson712
Phenotype_assayTemperature25Person_evidenceWBPerson7743
Curator_confirmedWBPerson712
WBPhenotype:0000700Paper_evidenceWBPaper00038257
Person_evidenceWBPerson7743
Curator_confirmedWBPerson712
RemarkComments to the National Bioresource Project of Japan: 1) Dr. R.H. Horvitz : not completely penetrant multivulva. 2) Dr. M. Han: WT at 20 degree, partial Muv at 25 degree.Person_evidenceWBPerson7743
Curator_confirmedWBPerson712
Laboratory_evidenceMT
MH
hpl-2 mutant worms did not show a phenotype at 20 degrees C, but displayed low frequency of Muv phenotype at elevated temperature (24.5 degrees C).Paper_evidenceWBPaper00038257
Curator_confirmedWBPerson712
PenetranceIncompletePaper_evidenceWBPaper00038257
Person_evidenceWBPerson7743
Curator_confirmedWBPerson712
Temperature_sensitiveHeat_sensitive24.5Paper_evidenceWBPaper00038257
Curator_confirmedWBPerson712
WBPhenotype:0001504Paper_evidenceWBPaper00046104
Curator_confirmedWBPerson10085
RemarkMaternal-effect sterile at 25 degrees CelsiusPaper_evidenceWBPaper00046104
Curator_confirmedWBPerson10085
Temperature_sensitiveHeat_sensitive25Paper_evidenceWBPaper00046104
Curator_confirmedWBPerson10085
Phenotype_not_observedWBPhenotype:0000062Person_evidenceWBPerson7743
Curator_confirmedWBPerson712
RemarkClassified as homozygous viable by the National Bioresource Project of Japan.Person_evidenceWBPerson7743
Curator_confirmedWBPerson712
Laboratory_evidenceFX
ReferenceWBPaper00038168
WBPaper00038257
WBPaper00040560
WBPaper00046104
WBPaper00065754
Remark14347/14348-15019/15020 (672 bp deletion)
This knockout was generated by the National Bioresource Project, Tokyo, Japan, which is part of the International C. elegans Gene Knockout Consortium, which should be acknowledged in any publications resulting from its use.Paper_evidenceWBPaper00041807
MethodNBP_knockout_allele