adcy3

Ensembl ID:
ENSDARG00000017437
ZFIN ID:
ZDB-GENE-041014-276
Description:
Novel protein similar to vertebrate adenylate cyclase 3 (ADCY3) [Source:UniProtKB/TrEMBL;Acc:Q5SP66]
Human Orthologue:
ADCY3
Human Description:
adenylate cyclase 3 [Source:HGNC Symbol;Acc:234]
Mouse Orthologue:
Adcy3
Mouse Description:
adenylate cyclase 3 Gene [Source:MGI Symbol;Acc:MGI:99675]

Alleles

There are 3 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa1806 Missense F2 line generated During 2016
sa39307 Nonsense Mutation detected in F1 DNA During 2016
sa10668 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa1806
Current Status:
F2 line generated
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:
Missense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000016530 Missense 207 1100 2 23
ENSDART00000148071 Missense 208 1053 2 20
Genomic Location (Zv9):
Chromosome 20 (position 46915125)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 46760408
KASP Assay ID:
554-1798.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GTTTCTTGCAGCTCGTGGCGAATCTGATGYTGTATTTTGGTGCCATGCTG[G/T]TGGGTGTGATGTCATATTTCATGGCTGACCGTAAATACCGCACAGCGTTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa39307
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
ENSDART00000016530 Nonsense 776 1100 16 23
ENSDART00000148071   None 1053 None 20
Genomic Location (Zv9):
Chromosome 20 (position 46936696)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 46781979
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CTGGACTACAGGTGAGACCAGCTCCAGTCTGAAATACATTGTGGATACTG[T/A]AAATTGATTGCATTTCAAGCGATGTCTGCCAAATGCATGAATATGTAATT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa10668
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
A > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000016530 Nonsense 861 1100 18 23
ENSDART00000148071 Nonsense 814 1053 15 20
Genomic Location (Zv9):
Chromosome 20 (position 46938561)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 46783844
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GGACATACAACGAGGCGCTGGTCACAAATATGCTTCCCGAACACGTGGCC[A/T]AACACTTCYTGGGCTCCAAGAAGCGAGATGAGGTGTGCATNAAAACTTGT
Associated Phenotype:
Not determined

GWAS

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

  • Body mass index: Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. (View Study)
  • Body mass index: Meta-analysis identifies common variants associated with body mass index in east Asians. (View Study)
  • Height: Many sequence variants affecting diversity of adult human height. (View Study)
  • Pubertal anthropometrics: Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity. (View Study)
  • Type 1 diabetes: A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci. (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/.)

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