|Institutional Source||Beutler Lab|
|Gene Name||acyl-Coenzyme A dehydrogenase, long-chain|
|Is this an essential gene?||Probably essential (E-score: 0.789)|
|Stock #||R0426 (G1)|
|Chromosomal Location||66830839-66863277 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 66841646 bp|
|Amino Acid Change||Phenylalanine to Leucine at position 320 (F320L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000027153 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000027153]|
|Predicted Effect||probably damaging
AA Change: F320L
PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
AA Change: F320L
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.9595|
|Coding Region Coverage||
|Validation Efficiency||96% (86/90)|
FUNCTION: This gene encodes a homotetrameric mitochondrial flavoprotein and is a member of the acyl-CoA dehydrogenase family. Members of this family catalyze the first step of fatty acid beta-oxidation, forming a C2-C3 trans-double bond in a FAD-dependent reaction. As beta-oxidation cycles through its four steps, each member of the acyl-CoA dehydrogenase family works at an optimum fatty acid chain-length. This enzyme has its optimum length between C12- and C16-acylCoA. In mice, deficiency of this gene can cause sudden death, cardiomyopathy as well as fasting and cold intolerance. [provided by RefSeq, Nov 2012]
PHENOTYPE: Homozygous mutation of this gene results in reduced litter size, sudden death between 2-14 weeks of age, reduced serum glucose levels, lipid accumulation in the liver and heart, and cardiomyopathy. Heterozygous mutant animals exhibit reduced litter size. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Acadl||
(F):5'- AGACCTTCTCTATGTCGCCTCAGG -3'
(R):5'- ACCACCGCTATTTTACACCAGTCG -3'
(F):5'- AGTGTCCTCAGGACTCTGGC -3'
(R):5'- AGCACGGTTCTTAGATATGTTCC -3'