Busch Lab

ZMP

otof

Ensembl ID:
ENSDARG00000030832
ZFIN ID:
ZDB-GENE-030131-7778
Description:
Otoferlin [Source:UniProtKB/Swiss-Prot;Acc:Q5SPC5]
Human Orthologue:
OTOF
Human Description:
otoferlin [Source:HGNC Symbol;Acc:8515]
Mouse Orthologue:
Otof
Mouse Description:
otoferlin Gene [Source:MGI Symbol;Acc:MGI:1891247]

Alleles

There are 9 alleles of this gene:

Allele Name Consequence Status Availability
sa17391 Nonsense Available for shipment Available now
sa23735 Essential Splice Site Available for shipment Available now
sa23736 Nonsense Available for shipment Available now
sa18571 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa17391
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
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Mutation:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000008840 Nonsense 38 1837 2 43
ENSDART00000136255 Nonsense 212 1992 7 46
Genomic Location (Zv9):
Chromosome 20 (position 31189503)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 31260716
GRCz11 20 31163595
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TGCTCTTGTGTGCAGATGATGCKGCYATTCTGGATGCAGAAGATCTGGAT[C/T]GAAAAGCCATGCGTCTAGGCGGCATTCTTGACCCTGATACAATCTCACTG
Long Flanking Sequence:
AAATTTTGGACCTTATTCTTGATAACAAAAACAAATGACCAATAAAAAAGCGTGAAGCACCCAATTTGGACCATATTAAAATGAATTTGAATACTAATTTAGCAATTTTTGTTGTTATCCATGTTTTTTCTATAAAATGTACTTTTTCTTAACAAGAGAGGCTAGAAAATTGTATTAAATTGGCAAAAAAATAAAATAATAATAATCATTAGCAGCTATTAAGTATAAGTATTTGTGTCTCCATTTTTAATCATTATATGACATTCATTCATTGATATTCACTGGTTTTGATTTGTTGGTATTTTACTTTAGACATCAATTGTAAAGACTGAAGAATCATAAACTGCACATTAGACATGAAACTTTAAAAGGAACAGAAGTTGATTGCATATTATAAATATATATTTTATAAAAGAAATGGAGCCTGTTCCTTTCAAAGTTTCACTTCTGTGCTCTTGTGTGCAGATGATGCTGCCATTCTGGATGCAGAAGATCTGGAT[C/T]GAAAAGCCATGCGTCTAGGCGGCATTCTTGACCCTGATACAATCTCACTGGCCTCGGTTACTGCAGTGACCACTAATGTCTCCAACAAAAGGTCACATGTCTAATGTGCACATGCTGTATTTTTAAACCCATACACGTACACTATTCTATTTTGAAGTTTGTATGTTTGCTTCTTGAAGTTTATATGTTTGTGAAAAGGTCACAGGGAAGAAAAACCTCCTATTTATGTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCCTTTCTAAAATTAAAGAAAGAACAGTTTGCTTTGTTTCTGATGTTGTTTCATTGACTTTTGTTTTTCATGTAATTAGTTTGATAAAAATACCTAATCAAGGTCTAGTTGACATGTTTGATTTTCCATATTTTATTGTGTGCTCGACATAATACATGCAAAATTTGATTTAAAACAACTAATCGTTTAAATTTGTGTCCTTAAGGTTGATCCTCTTGTTTTTCCAGATCAAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa23735
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Mutation:
T > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000008840 Essential Splice Site 151 1837 5 43
ENSDART00000136255 Essential Splice Site 325 1992 10 46
Genomic Location (Zv9):
Chromosome 20 (position 31195750)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 31266963
GRCz11 20 31169842
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTTCCACGTGCCTCCAGACGTCATGTTTGACAAAATTATAAAGATTTCAG[T/C]GAGTAGATAAAGCCACGCATCATACACTTTTACAAACCTTTAATCAAACC
Long Flanking Sequence:
GCAAGTGTACATCTCTTCTTAGCCATTTTATTAGCCCAAAATAAGTCAGGAAGGTCTTTGAGAACTTCCTTAGCTCAAATTCTCCTCTCGCCCTGCAAACACGAGGGAGTCCCGGGCTCAAGGATCTAATGAGCTCAGGGCTCTCTCCTGGGACAGCATGCCAAATAAGATTTATTATCACTCATCAGCTAAGTGTGAACTCTTAAAAAAGTTTTATTTCATAATGAACACTTTTTTTAGTCTTCTTACTTGTTTTACTTGTTTTTTTTATTTTTACTAAGCAGTGACATGCATTATAATGCCAGATCCTACATTAAATATTAGATTGTCGTAGGTGATAAACATTGCACACCCACGTACAGCAGATGATGAACAGTCTCATTAATTTCATGTCTACAGCCATTTTGATTATCTTTATCTCTCTCTCTTCAAACAGTATTTTGTCTTCGACTTCCACGTGCCTCCAGACGTCATGTTTGACAAAATTATAAAGATTTCAG[T/C]GAGTAGATAAAGCCACGCATCATACACTTTTACAAACCTTTAATCAAACCTCCATTGGAAACAGCGGATTAAGTTGTACTTTTTTTTTTGCTAAAATTAAGGTAATACATTCTAAAAACCTTCTGCGAAGCGGCACCCTCGTGGGCACCTTCAAACTAGACGTGGGGACTGTTTACACACAACCTGGTCGGTAACCATAAAAATAAGTGAGAGATGTACTGATTAAATGGGAAGATGGCTTTTATTTGTTGAATGTTTCTCACAGAACATCAGTTTCATCACAAATGGGCGATGCTGTCAGACCCTGATGACATCACGACTGGCTGCAAAGGTTATGTTAAATGTGACATCGCAGTCGTGGGAAAAGGAGACAACATCAAGACTCCACACAAGGCCAGTGAAGCAGACGAGGATGACATAGAGGGGTTAGTGTGCTGTGTTCTAATCATGTGATAATAAATTGTGCCATACTGTAGCACCAATTTTGGATTGGTGCCAGA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa23736
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Mutation:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000008840 Nonsense 589 1837 14 43
ENSDART00000136255 Nonsense 763 1992 19 46
Genomic Location (Zv9):
Chromosome 20 (position 31206597)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 31277810
GRCz11 20 31180689
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GAGGAAGGTCTGAATGATGTTCAAGAGATCATAAAAACAGAGAAGGCATA[T/A]CCAGAACGAAGACTAAGAGGTGTATTAGAAGAACTTAGCACAAGCTGCAG
Long Flanking Sequence:
ATGGACAATTTAACTTACCCAATTTACCTGTAGGCTACCACATATCTTTGGACTTGTGGGGTAAACCAGAGCACCCAGAGGAAACCCACGCAAACATTGGGAGAGCATGCACTCTCTACACATAAATGCCAACTGACCCAGCCGAGCCTTAAAACAGCAACCATCTTACTGTGAGGCGATCATGCTACCCACTGCACCACCGTGACACCCTACAAAAGAAATTAGTTATTAGAAATGTGTTATTAACACTATTATGTTTAACAATTGGTTAAAAAAGTATCTATTTTAAACAGCACTTGGAAAATAAATGTAAAAAGTATAAATAAATATAAACACAAATTATACTGGCAATGTGAATTTTTAAGCAGAGAGGACTAACAATCTAATTACAAACATATATTTAGGGTTCATGAGAACACAGCTAATGTTCATGTCTTTCTTTGTAAACAGGAGGAAGGTCTGAATGATGTTCAAGAGATCATAAAAACAGAGAAGGCATA[T/A]CCAGAACGAAGACTAAGAGGTGTATTAGAAGAACTTAGCACAAGCTGCAGGTGACAAAACACAGTGAGCTAATGTGCATACAGCGCATGCAACAATCAGTAATCTCTTGACTTCTTTTCCTTATTCTCCACAATTGAAGCCGGTTTGTTACACTTGCAAACAAGGATCAGAATCTTTCTGGAAGAACCAAGCTGGACAGAGAGAGGCTGAAGTCCTGTATGAGAGAAATGGTACTCCCACACAACCCATTTAGTTTCTGCTTACACATTGAGAACTGCTGATGGGAATGTAATTTGCGTGGTTATATTGTTCACAGGAGAGTATGGGTCAGCAGGCGAAGACCATCCGCACACAAGTGAAAAGAAACACAGTTCGAGATAAACTCAAGCTAGTGTTGAATTTCCTTCAGAGGCTTCGATTCTTAGCAGACGAGGTAAAAGAAATCACCTGATCACTTCCTAGTGAACACGATCAGAATCTCAAACTTTGTGGTTGATTTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa18571
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Order Allele From EZRC
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000008840 Nonsense 592 1837 14 43
ENSDART00000136255 Nonsense 766 1992 19 46
Genomic Location (Zv9):
Chromosome 20 (position 31206604)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 31277817
GRCz11 20 31180696
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GTCTGAATGATGTTCAAGAGATCAYAAAAACAGAGAAGGCATATCCAGAA[C/T]GAAGACTWAGAGGTGTATTAGAAGAACTTAGCACAAGCTGCAGGTGACAA
Long Flanking Sequence:
ATTTAACTTACCCAATTTACCTGTAGGCTACCACATATCTTTGGACTTGTGGGGTAAACCAGAGCACCCAGAGGAAACCCACGCAAACATTGGGAGAGCATGCACTCTCTACACATAAATGCCAACTGACCCAGCCGAGCCTTAAAACAGCAACCATCTTACTGTGAGGCGATCATGCTACCCACTGCACCACCGTGACACCCTACAAAAGAAATTAGTTATTAGAAATGTGTTATTAACACTATTATGTTTAACAATTGGTTAAAAAAGTATCTATTTTAAACAGCACTTGGAAAATAAATGTAAAAAGTATAAATAAATATAAACACAAATTATACTGGCAATGTGAATTTTTAAGCAGAGAGGACTAACAATCTAATTACAAACATATATTTAGGGTTCATGAGAACACAGCTAATGTTCATGTCTTTCTTTGTAAACAGGAGGAAGGTCTGAATGATGTTCAAGAGATCATAAAAACAGAGAAGGCATATCCAGAA[C/T]GAAGACTAAGAGGTGTATTAGAAGAACTTAGCACAAGCTGCAGGTGACAAAACACAGTGAGCTAATGTGCATACAGCGCATGCAACAATCAGTAATCTCTTGACTTCTTTTCCTTATTCTCCACAATTGAAGCCGGTTTGTTACACTTGCAAACAAGGATCAGAATCTTTCTGGAAGAACCAAGCTGGACAGAGAGAGGCTGAAGTCCTGTATGAGAGAAATGGTACTCCCACACAACCCATTTAGTTTCTGCTTACACATTGAGAACTGCTGATGGGAATGTAATTTGCGTGGTTATATTGTTCACAGGAGAGTATGGGTCAGCAGGCGAAGACCATCCGCACACAAGTGAAAAGAAACACAGTTCGAGATAAACTCAAGCTAGTGTTGAATTTCCTTCAGAGGCTTCGATTCTTAGCAGACGAGGTAAAAGAAATCACCTGATCACTTCCTAGTGAACACGATCAGAATCTCAAACTTTGTGGTTGATTTTCCTCTTA
Associated Phenotype:
Not determined