|Institutional Source||Beutler Lab|
|Gene Name||3-hydroxy-3-methylglutaryl-Coenzyme A lyase|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7074 (G1)|
|Chromosomal Location||135946448-135962617 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 135953867 bp|
|Amino Acid Change||Histidine to Arginine at position 88 (H88R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000030432 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000030432]|
|Predicted Effect||probably benign
AA Change: H88R
PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
AA Change: H88R
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the HMG-CoA lyase family. It is a mitochondrial enzyme that catalyzes the final step of leucine degradation and plays a key role in ketone body formation. Mutations in this gene are associated with HMG-CoA lyase deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a knock-out allele die at midgestation exhibiting reduced embryo size, frequent cytoplasmic vacuolization in liver, heart and placenta, and marked focal hydropic swelling of mitochondria in hepatocytes. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Hmgcl||
(F):5'- CCTCTCTGGTCAGGCAGATAAG -3'
(R):5'- TCTGATGGTATTCAGCCCCAC -3'
(F):5'- GGTGGCTCACAACCATCTGTAATG -3'
(R):5'- CACTGGTGGCAGGCTGTTC -3'