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 are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa45222 Essential Splice Site Mutation detected in F1 DNA During 2018
sa40532 Nonsense Mutation detected in F1 DNA During 2018

Mutation Details

Allele Name:
sa45222
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 2018.
Mutation:
T > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000039973 Essential Splice Site 358 470 10 13
ENSDART00000125364 Essential Splice Site 299 570 9 17
Genomic Location (Zv9):
Chromosome 5 (position 44549658)
Other Location(s):
Assembly Chromosome Position
GRCz10 5 42330923
GRCz11 5 42931076
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GCTTGGAGAAACTCGCAAACAGCTCAAAGAGGAAACTCAGCTCAGACTTG[T/A]AAGTAAAACATTAATGTAAAGCAAAGTAGAGTAAGACACCATGTTAGAAG
Associated Phenotype:
Not determined

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 2018.
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
GRCz11 5 42937871
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

Register

If you would like to be informed when the status of this gene changes (for example, a new allele is generated or an allele is made available for distribution) then please enter your details below:

Short-link