LOC100333151

Ensembl ID:
ENSDARG00000074474
Human Orthologue:
CPEB4
Human Description:
cytoplasmic polyadenylation element binding protein 4 [Source:HGNC Symbol;Acc:21747]
Mouse Orthologue:
Cpeb4
Mouse Description:
cytoplasmic polyadenylation element binding protein 4 Gene [Source:MGI Symbol;Acc:MGI:1914829]

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa43715 Essential Splice Site Mutation detected in F1 DNA During 2016
sa24025 Essential Splice Site Mutation detected in F1 DNA During 2016

Mutation Details

Allele Name:
sa43715
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 > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000115341 Essential Splice Site 512 602 6 9
Genomic Location (Zv9):
Chromosome 21 (position 39724458)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 41462973
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TGTGGATTGGCCTCACAAAGCAGAGAGCAAGTCATACTTCCCCCCGAAAG[G/C]TGAGCAAAGAGTTTGGCACTGGCAGGTTGTCCGCAGGATCTTAAAAATGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa24025
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:
A > T
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000115341 Essential Splice Site 553 602 8 9
Genomic Location (Zv9):
Chromosome 21 (position 39720820)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 41459341
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TAGGGATCTGTTGTGTTGAATTAGTATTTAGTTACTTGGCTTATTGTTAC[A/T]GGTCCAAATTCGCCCATGGAATCTTAACGATAGTGACTTTGTGATGGATG
Associated Phenotype:
Not determined

GWAS

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

  • Crohn's disease: Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. (View Study)
  • Obesity-related traits: Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (View Study)
  • Ulcerative colitis: Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. (View Study)
  • Waist-hip ratio: Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution. (View Study)

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

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