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WormBase Tree Display for Variation: WBVar00142982

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Name Class

WBVar00142982EvidencePaper_evidenceWBPaper00001792
NamePublic_namee128
Other_nameT14B4.7.1:c.205-1G>A
T14B4.19.1:c.*101-1G>A
HGVSgCHROMOSOME_II:g.6711280C>T
Sequence_detailsSMapS_parentSequenceT14B4
Flanking_sequencesctattgtataaaatttttttcaactcttcaagatcaaacgacgaggctgcacttgaactt
Mapping_targetT14B4
Type_of_mutationSubstitutiongaPaper_evidenceWBPaper00001792
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
Strain (660)
LaboratoryCB
VC
BN
StatusLive
AffectsGeneWBGene00001072
WBGene00302993
TranscriptT14B4.7.1VEP_consequencesplice_acceptor_variant
VEP_impactHIGH
HGVScT14B4.7.1:c.205-1G>A
Intron_number4/6
T14B4.19.1VEP_consequencesplice_acceptor_variant
VEP_impactHIGH
HGVScT14B4.19.1:c.*101-1G>A
Intron_number6/6
Interactor (23)
GeneticsInterpolated_map_positionII0.000998201
Mapping_dataIn_2_point (40)
In_multi_point (151)
In_pos_neg_data (26)
Marked_rearrangementmIn1[dpy-10(e128) let-?(m727)]
mIn1[dpy-10(e128) mIs14(myo-2::GFP)]
mIn1[dpy-10(e128)]
mIn1[rol-1(e91) dpy-10(e128)]
mIn1[unc-4(e120) dpy-10(e128)]
DescriptionPhenotype (20)
Phenotype_not_observedWBPhenotype:0000505Paper_evidenceWBPaper00001328
Curator_confirmedWBPerson712
RemarkMales are not Ram.Paper_evidenceWBPaper00001328
Curator_confirmedWBPerson712
EQ_annotationsAnatomy_termWBbt:0006941PATO:0000460Paper_evidenceWBPaper00001328
Curator_confirmedWBPerson712
Life_stageWBls:0000056PATO:0000460Paper_evidenceWBPaper00001328
Curator_confirmedWBPerson712
Phenotype_assayTemperature20CPaper_evidenceWBPaper00001328
Curator_confirmedWBPerson712
Genotypehim-5(e1490)Paper_evidenceWBPaper00001328
Curator_confirmedWBPerson712
WBPhenotype:0000645Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remarknon-rollerPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0001426Paper_evidenceWBPaper00004883
Curator_confirmedWBPerson712
Phenotype_assayGenotypearIs37Paper_evidenceWBPaper00004883
Curator_confirmedWBPerson712
WBPhenotype:0001678Paper_evidenceWBPaper00003994
Curator_confirmedWBPerson557
RemarkThere was no change in the hydroxyproline content of cuticle collagen from dpy-10 (e128) animals compared with wild-type cuticle extracts. This is in contrast to the reduction of hydroxyproline content found in dpy-18 (e1096) and dpy-18 (e364) animals.Paper_evidenceWBPaper00003994
Curator_confirmedWBPerson557
Disease_infoModels_diseaseDOID:37
Models_disease_in_annotationWBDOannot00001178
ReferenceWBPaper00014849
WBPaper00038354
WBPaper00029020
WBPaper00001328
WBPaper00000031
WBPaper00004883
WBPaper00005747
WBPaper00015132
WBPaper00022704
WBPaper00024920
WBPaper00014351
WBPaper00000465
WBPaper00016554
WBPaper00020813
WBPaper00016428
WBPaper00014501
WBPaper00014296
WBPaper00014484
WBPaper00016279
WBPaper00014652
WBPaper00016430
WBPaper00015606
WBPaper00013889
WBPaper00015386
WBPaper00022258
WBPaper00012660
WBPaper00016138
WBPaper00014155
WBPaper00015940
WBPaper00016271
WBPaper00013666
WBPaper00015881
WBPaper00045575
WBPaper00055059
WBPaper00061034
WBPaper00061175
WBPaper00061173
WBPaper00003994
WBPaper00053771
WBPaper00061220
WBPaper00065293
WBPaper00065800
WBPaper00065706
WBPaper00065742
WBPaper00066011
RemarkVariation stub/paper connection generated from the May 2021 NN VFP dataset.
Created by WBPerson51134 from the NN_VFP_triage_pipeline
MethodSubstitution_allele