rufy3

Ensembl ID:
ENSDARG00000029692
ZFIN ID:
ZDB-GENE-050327-58
Description:
protein RUFY3 [Source:RefSeq peptide;Acc:NP_001014357]
Human Orthologue:
RUFY3
Human Description:
RUN and FYVE domain containing 3 [Source:HGNC Symbol;Acc:30285]
Mouse Orthologue:
Rufy3
Mouse Description:
RUN and FYVE domain containing 3 Gene [Source:MGI Symbol;Acc:MGI:106484]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa40532 Nonsense Mutation detected in F1 DNA During 2017

Mutation Details

Allele Name:
sa40532
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2017.
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000039973   None 470 None 13
ENSDART00000125364 Nonsense 463 570 13 17
Genomic Location (Zv9):
Chromosome 5 (position 44556453)
Other Location(s):
Assembly Chromosome Position
GRCz10 5 42337718
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CACCTGAAACTCTGCTGGGAAAAACACCTCCGCAGCAGAGAGACAGCAAA[C/T]AACACATCGAGGACATCAGAAAGGTGAAGCTCTTTCAAATTTCACTGAAT
Associated Phenotype:
Not determined

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