usp9

Ensembl ID:
ENSDARG00000013708
ZFIN ID:
ZDB-GENE-061019-1
Description:
probable ubiquitin carboxyl-terminal hydrolase FAF-X [Source:RefSeq peptide;Acc:NP_001070917]
Human Orthologues:
USP9X, USP9Y
Human Descriptions:
ubiquitin specific peptidase 9, X-linked [Source:HGNC Symbol;Acc:12632]
ubiquitin specific peptidase 9, Y-linked [Source:HGNC Symbol;Acc:12633]
Mouse Orthologues:
Usp9x, Usp9y
Mouse Descriptions:
ubiquitin specific peptidase 9, X chromosome Gene [Source:MGI Symbol;Acc:MGI:894681]
ubiquitin specific peptidase 9, Y chromosome Gene [Source:MGI Symbol;Acc:MGI:1313274]

Alleles

There are 7 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa18950 Essential Splice Site Mutation detected in F1 DNA During 2014
sa8794 Essential Splice Site Mutation detected in F1 DNA During 2014
sa11012 Nonsense Available for shipment Available now
sa18951 Nonsense Mutation detected in F1 DNA During 2014
sa21524 Essential Splice Site Mutation detected in F1 DNA During 2014
sa21525 Splice Site, Nonsense Mutation detected in F1 DNA During 2014
sa16185 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa18950
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 2014.
Mutation:
T > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000025635 Essential Splice Site 1009 2551 19 45
ENSDART00000122803 Essential Splice Site 1009 2594 19 46
ENSDART00000135384 Essential Splice Site 1009 2551 20 46
ENSDART00000025635 Essential Splice Site 1009 2551 19 45
ENSDART00000122803 Essential Splice Site 1009 2594 19 46
ENSDART00000135384 Essential Splice Site 1009 2551 20 46
Genomic Location:
Chromosome 9 (position 34326908)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CTACAGTGATGGGCCAAACCCTGAAGTAGAGAGCTGTCTTCCTGGTGTGG[T/C]GAGCATCATTTTATGCAGGCACATGATTGAGCCTAATTGTCAATTTTGTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa8794
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 2014.
Mutation:
T > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000025635 Essential Splice Site 1009 2551 19 45
ENSDART00000122803 Essential Splice Site 1009 2594 19 46
ENSDART00000135384 Essential Splice Site 1009 2551 20 46
ENSDART00000025635 Essential Splice Site 1009 2551 19 45
ENSDART00000122803 Essential Splice Site 1009 2594 19 46
ENSDART00000135384 Essential Splice Site 1009 2551 20 46
Genomic Location:
Chromosome 9 (position 34326908)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CTACAGTGATKGGCCAAACCCTGAAGTAGAGAGCTGTCTTCCTGGTGTGG[T/C]GAGCATCATTTYATGCAGGCACATGATTGAGCCTAATTGTCAATTTTGTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa11012
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000025635 Nonsense 1822 2551 34 45
ENSDART00000122803 Nonsense 1826 2594 34 46
ENSDART00000135384 Nonsense 1822 2551 35 46
ENSDART00000025635 Nonsense 1822 2551 34 45
ENSDART00000122803 Nonsense 1826 2594 34 46
ENSDART00000135384 Nonsense 1822 2551 35 46
Genomic Location:
Chromosome 9 (position 34336875)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AAGTTCAATGACTACTTTGAGTTTCCWCGRGAGTTGGACATGGAACCCTA[T/A]ACAGTAGCAGGAGTAGCTAAGCTGGAAGGGTCAGACGTGCACCCAGAAAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa18951
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 2014.
Mutation:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000025635 Nonsense 1822 2551 34 45
ENSDART00000122803 Nonsense 1826 2594 34 46
ENSDART00000135384 Nonsense 1822 2551 35 46
ENSDART00000025635 Nonsense 1822 2551 34 45
ENSDART00000122803 Nonsense 1826 2594 34 46
ENSDART00000135384 Nonsense 1822 2551 35 46
Genomic Location:
Chromosome 9 (position 34336875)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AAGTTCAATGACTACTTTGAGTTTCCACGAGAGTTGGACATGGAACCCTA[T/A]ACAGTAGCAGGAGTAGCTAAGCTGGAAGGGTCAGACGTGCACCCAGAAAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa21524
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 2014.
Mutation:
T > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000025635 Essential Splice Site 2067 2551 36 45
ENSDART00000122803 Essential Splice Site 2073 2594 36 46
ENSDART00000135384 Essential Splice Site 2067 2551 37 46
Genomic Location:
Chromosome 9 (position 34341793)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GTACTGGATTCCACACCAAGAAAATAGTCCGTGGCCCAGCTAGTGATTGG[T/C]AAGCAATTTGTGTTTTAATTACATTGTGTTTCTCAACCATGTTCCTGGAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa21525
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 2014.
Mutation:
G > A
Consequence:
Splice Site, Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000025635 Splice Site, Nonsense 2067 2551 37 45
ENSDART00000122803 Splice Site, Nonsense 2073 2594 37 46
ENSDART00000135384 Splice Site, Nonsense 2067 2551 38 46
Genomic Location:
Chromosome 9 (position 34342062)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CAAATTTGAATCTGTTTTTCAGTTTGTTGAACTGTTTATTGACGTTTCAG[G/A]TATGATGCTCTGTGCATCTTGTTGAGACACAGTAAGAATGTGCGTTACTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa16185
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000025635 None None 2551 None 45
ENSDART00000122803 Essential Splice Site 2516 2594 44 46
ENSDART00000135384 None None 2551 None 46
Genomic Location:
Chromosome 9 (position 34346923)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CACACAGCAGCTTTTGCCAGGGGAAGTGACAGGCCCACAACAGCACACCG[T/C]AAGACTCKTTTGGCCCAGCCACACTGGTGCATCTGCGTAACTTTTTGGTG
Associated Phenotype:
Not determined

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* quick link - http://q.sanger.ac.uk/499jn033