acat1

Ensembl ID:
ENSDARG00000045888
ZFIN ID:
ZDB-GENE-040808-68
Description:
Acetyl-CoA acetyltransferase, mitochondrial [Source:UniProtKB/Swiss-Prot;Acc:Q6AZA0]
Human Orthologue:
ACAT1
Human Description:
acetyl-CoA acetyltransferase 1 [Source:HGNC Symbol;Acc:93]
Mouse Orthologue:
Acat1
Mouse Description:
acetyl-Coenzyme A acetyltransferase 1 Gene [Source:MGI Symbol;Acc:MGI:87870]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa4389 Essential Splice Site Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa4389
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 > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000067448 Essential Splice Site 381 420 11 12
Genomic Location:
Chromosome 10 (position 40028065)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
ACAGAGTCAATATCAACGGAGGAGCCGTTTCCCTCGGACATCCAATTGGG[T/A]AAATATATGCACCGTCCCATGCATCACTACATTGACTWCCTGTAATTAGA
Associated Phenotype:
Not determined

Register

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* quick link - http://q.sanger.ac.uk/07zcoe3x