atp5o

Ensembl ID:
ENSDARG00000001788
ZFIN ID:
ZDB-GENE-050522-147
Description:
ATP synthase subunit O, mitochondrial [Source:RefSeq peptide;Acc:NP_001003843]
Human Orthologues:
AP000304.12, ATP5O
Human Description:
ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit [Source:HGNC Symbol;Acc:850]
Mouse Orthologues:
Atp5o, Gm5436
Mouse Descriptions:
ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit Gene [Source:MGI Symbol;Acc:MGI:1
predicted pseudogene 5436 Pseudogene [Source:MGI Symbol;Acc:MGI:3643291]

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa17805 Essential Splice Site Available for shipment Available now
sa21522 Nonsense Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa17805
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000005879 Essential Splice Site 9 209 None 7

The following transcripts of ENSDARG00000001788 do not overlap with this mutation:

Genomic Location:
Chromosome 9 (position 34178923)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
ACCTACACAGTCGCAGGAGAAAATGGCAGCGCTTGGAGTGGGGCTGCAGG[T/C]ATGACTTTCTGAAAACCTTGTACTCGCTTTATAGAAAATCAACAAATGTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa21522
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:
A > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000005879 Nonsense 133 209 5 7

The following transcripts of ENSDARG00000001788 do not overlap with this mutation:

Genomic Location:
Chromosome 9 (position 34180609)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CCTTGACCCCTGATGTCATCGCTGCTTTTAGCAAAATGATGAGCGCCCAC[A/T]GAGGAGAGGTCACATGCTCAGTCACCACCGCTCAGGTAAGCGTTATATAA
Associated Phenotype:
Not determined

GWAS

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

(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/l2u4lqfi