bicc1

Ensembl ID:
ENSDARG00000070497
ZFIN ID:
ZDB-GENE-080522-3
Human Orthologue:
BICC1
Human Description:
bicaudal C homolog 1 (Drosophila) [Source:HGNC Symbol;Acc:19351]
Mouse Orthologue:
Bicc1
Mouse Description:
bicaudal C homolog 1 (Drosophila) Gene [Source:MGI Symbol;Acc:MGI:1933388]

Alleles

There are 3 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa22028 Nonsense Mutation detected in F1 DNA During 2014
sa13535 Essential Splice Site Available for shipment Available now
sa22029 Nonsense Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa22028
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:
C > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000103526 Nonsense 438 892 10 19
Genomic Location:
Chromosome 12 (position 8081582)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TTTGGCGAAAACAAAAATAAATCACTATTTTATTTTAATAGGTTTCTCAT[C/A]ACCCCTAATGATCCACCCAGCCACCCCAGCCACTTTGACCAGTATTTTGC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa13535
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000103526 Essential Splice Site 495 892 10 19
Genomic Location:
Chromosome 12 (position 8081755)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TCAACTGCATATCAGACTRCAGTAAAGCCGTGTCTCCACTCAGCACCAAA[G/A]TGAGTAAATCTTCACTCACCATCACAAGATTATAGAATGTTWTGCTWAAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa22029
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 > G
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000103526 Nonsense 703 892 15 19
Genomic Location:
Chromosome 12 (position 8092140)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
ATGCCTGCAGAAACAATTAAGGAGCTGCGCAGGGCCAACCACGTGTCTTA[T/G]AAACCCACCATGTCAACTACATACGAGGTAAACTCAACAGATGAGCAGAT
Associated Phenotype:
Not determined

GWAS

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

  • Obesity-related traits: Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (View Study)
  • Refractive error: Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia. (View Study)

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

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:

* quick link - http://q.sanger.ac.uk/91lns554