fbxl22

Ensembl ID:
ENSDARG00000045641
ZFIN ID:
ZDB-GENE-050227-1
Description:
F-box/LRR-repeat protein 22 [Source:RefSeq peptide;Acc:NP_001013297]
Human Orthologue:
USP3
Human Description:
ubiquitin specific peptidase 3 [Source:HGNC Symbol;Acc:12626]
Mouse Orthologue:
Usp3
Mouse Description:
ubiquitin specific peptidase 3 Gene [Source:MGI Symbol;Acc:MGI:2152450]

Alleles

There are 4 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa44315 Essential Splice Site Mutation detected in F1 DNA During 2016
sa30271 Essential Splice Site Mutation detected in F1 DNA During 2016
sa24690 Nonsense Mutation detected in F1 DNA During 2016
sa44314 Essential Splice Site Mutation detected in F1 DNA During 2016

Mutation Details

Allele Name:
sa44315
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 2016.
Mutation:
G > T
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000067114   None 227 None 2
ENSDART00000088884 Essential Splice Site 127 527 4 16
Genomic Location:
Chromosome 25 (position 27616033)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AAACTTGGGCATGTGCAGAGGGTCAGAGAACATCTACAGAGTTTGGAGAA[G/T]TAAGACTGTAGTTTATAATGTATCTGTTTATCAATCAAACATCATAAAAC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa30271
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 2016.
Mutation:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000067114   None 227 None 2
ENSDART00000088884 Essential Splice Site 409 527 12 16
Genomic Location:
Chromosome 25 (position 27607395)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AAAAGCGACAGAAGTCCACCAAGAAATTCTGGATCCAGAAACTGCCCAAG[G/A]TAACCAAATATTTAAATATTTCGGTAATATGTTGTCCATATTTTTTCAGC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa24690
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 2016.
Mutation:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000067114   None 227 None 2
ENSDART00000088884 Nonsense 446 527 13 16
Genomic Location:
Chromosome 25 (position 27607211)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CACCTATGTAGAGTTTCCCATGTGTGGCCTTGACATGAAAAGCTACTTGT[T/A]AGAGGTGAGAGCATTCAGTTTTGTTACACATTGTTTTGTTTTTTTTGTTA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa44314
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 2016.
Mutation:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000067114 Essential Splice Site 112 227 2 2
ENSDART00000088884 Essential Splice Site 497 527 16 16
Genomic Location:
Chromosome 25 (position 27594481)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
ATAGTAGTAATTATATTTAGCATGTCAAAATTGTGCTTTTTGTTTTTTTA[G/A]GTGTCCAAATCTGATCTCACTGACTCTGTCTGGATGTGGGCACATAATGG
Associated Phenotype:
Not determined

GWAS

This gene's human homologue has been identified in the following GWAS studies:

  • Heart failure: Association of genome-wide variation with the risk of incident heart failure in adults of European and African ancestry: a prospective meta-analysis from the cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium. (View Study)

(GWAS data comes from http://www.genome.gov/gwastudies/.)

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