Busch Lab

ZMP

LOC100330077

Ensembl ID:
ENSDARG00000078685
Human Orthologue:
RUFY1
Human Description:
RUN and FYVE domain containing 1 [Source:HGNC Symbol;Acc:19760]
Mouse Orthologue:
Rufy1
Mouse Description:
RUN and FYVE domain containing 1 Gene [Source:MGI Symbol;Acc:MGI:2429762]

Alleles

There are 2 alleles of this gene:

Allele Name Consequence Status Availability
sa9055 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa9055
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
G > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000112082 Nonsense 13 697 1 17
Genomic Location (Zv9):
Chromosome 14 (position 7011253)
Other Location(s):
Assembly Chromosome Position
GRCz10 14 6738221
GRCz11 14 7044948
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TTTGACAGGCAAATATGGCGGACGARGATCCAAACACGAAAGTTGAAAGC[G/T]GAGACGTTCCTGCWAAAGAAGWAGAACCGGAGGTWACGGAAACCGGGCAA
Long Flanking Sequence:
ATTTATTTGGCCATTAATTAATTTATTTTTTTCATTCATTTATTCAGTAATTTTTATTTATTTAAAAAAATCTGGTTCACATTACATTCCAAAGCTGAAAGTTTTTATACAAATAAAAAAAATACTATTTTATATTTTAAATAAATGTTTTAAATATTGCCCATCCCTTTTATTGATTTAATTTATTTTACTTTAATTTTTTTATTTTGTTTTATTTTTGTTTTATTATTTTTTTTCTGGCTCAACTTACATTTCACAGCTGGAGATTTTGATGAAAACACAAATAACAAAATGTATTTATTTATTTATTTCAGTCAGTTATGTATCTACATTTCAAACTGATGTCTAAAAATACAGACCTGTGTTTCGGGAAGTGTATAAATCTGGTCGCCAATCGATTCGTCTCCCCTGAGTGATCAAATGCGATTGCTCTGGTCTCGAGTCACATGTTTTGACAGGCAAATATGGCGGACGAGGATCCAAACACGAAAGTTGAAAGC[G/T]GAGACGTTCCTGCAAAAGAAGAAGAACCGGAGGTAACGGAAACCGGGCAAGAAGATGTCGCCAACAACACCGACGAGCTCCAAAAGGACAGACCGGCAGACAGCTCTTGGTCGGCGCCGATTTTGTCGTTTGCTCGTAAAGCGACGGAGACGCTGAGCAGTGGAGTGAATCATTACAGCGCGGGGTTAAAGACACCTGACACAACACAACAACACTCCTCTGATCCGGTCAAGATAGCAGGTAAGACAGAATTGAGGTAAAGTCGGTTTTATATTCGCACATTCGTTCATTTTTAAACGGTGACAACTTGTGACATGCTTCCTAATATTGTTACCACGCTACTTTTAATACTCGGTCTAAAATAGCATGTAAATATGACTTCAAAAGAACATTAGCTCTGTTTAATTGACTGTGAACAATGTTATAGTTTGATATGCTTTACTTCTAATACTTTACTAAAATAGTATTATTAAGAAGGAAGTCTATAAACCAACTTTATC
Associated Phenotype:
Not determined