ENSDARG00000088672

Ensembl ID:
ENSDARG00000088672
Human Orthologues:
IL1R1, IL1RL1, IL1RL2
Human Descriptions:
interleukin 1 receptor, type I [Source:HGNC Symbol;Acc:5993]
interleukin 1 receptor-like 1 [Source:HGNC Symbol;Acc:5998]
interleukin 1 receptor-like 2 [Source:HGNC Symbol;Acc:5999]
Mouse Orthologues:
Il1r1, Il1rl1, Il1rl2
Mouse Descriptions:
interleukin 1 receptor, type I Gene [Source:MGI Symbol;Acc:MGI:96545]
interleukin 1 receptor-like 1 Gene [Source:MGI Symbol;Acc:MGI:98427]
interleukin 1 receptor-like 2 Gene [Source:MGI Symbol;Acc:MGI:1913107]

Alleles

There are 3 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa8912 Nonsense Mutation detected in F1 DNA During 2015
sa10057 Nonsense Available for shipment Available now
sa27498 Essential Splice Site Mutation detected in F1 DNA During 2015

Mutation Details

Allele Name:
sa8912
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 2015.
Mutation:
T > G
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000122155 Nonsense 400 580 9 11
ENSDART00000122155 Nonsense 400 580 9 11
Genomic Location:
Chromosome 9 (position 54845089)
KASP Assay ID:
2260-2603.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TTATTCTTCACTGTGGTTGTTTTTCCTYTAGATGGCGATGGTAAGCAGTA[T/G]GACGCATATATCGCCTATCCCAGAGTCCTGGAGGGCTCYAGTGAAAAGGC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa10057
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > G
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000122155 Nonsense 400 580 9 11
ENSDART00000122155 Nonsense 400 580 9 11
Genomic Location:
Chromosome 9 (position 54845089)
KASP Assay ID:
2260-2603.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TTATTCTTCACTGTGGTTGTTTTTCCTYTAGATGGCGATGGTAAGCAGTA[T/G]GACGCATATATCGCCTATCCCAGAGTCCTGGAGGGCTCYAGTGAAAAGGC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa27498
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 2015.
Mutation:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000122155 Essential Splice Site None 580 10 11
Genomic Location:
Chromosome 9 (position 54835819)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GGTTTATACTCTGGAGGTGGAGGGAAAAGACACTTTTCAGGAGACGTTAG[G/A]TTAATTTTAATGGGACGCCCAGTTCTTCAGCAGAATTTCTTTTGCAAAAA
Associated Phenotype:
Not determined

GWAS

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

  • Asthma: Genome-wide association studies of asthma in population-based cohorts confirm known and suggested loci and identify an additional association near HLA. (View Study)
  • Asthma: Genome-wide association study to identify genetic determinants of severe asthma. (View Study)
  • Asthma: Meta-analysis of genome-wide association studies of asthma in ethnically diverse North American populations. (View Study)
  • Atopic dermatitis: Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population. (View Study)
  • Celiac disease: Multiple common variants for celiac disease influencing immune gene expression. (View Study)
  • Celiac disease: Newly identified genetic risk variants for celiac disease related to the immune response. (View Study)
  • Crohn's disease: Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. (View Study)
  • Eosinophil counts: Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction. (View Study)
  • Ulcerative colitis: Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. (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/t7la3hih