|Institutional Source||Beutler Lab|
|Gene Name||acyl-Coenzyme A dehydrogenase, medium chain|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R4994 (G1)|
|Chromosomal Location||153922357-153944632 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 153929584 bp (GRCm38)|
|Amino Acid Change||Glutamic Acid to Lysine at position 298 (E298K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000072483 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000072697]|
AA Change: E298K
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: E298K
|Meta Mutation Damage Score||0.3025|
|Coding Region Coverage||
|Validation Efficiency||100% (79/79)|
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 C6- and C12-acylCoA. In mice, deficiency of this gene can cause neonatal mortality as well as fasting and cold intolerance. This gene has multiple, intronless pseudogenes. [provided by RefSeq, Nov 2012]
PHENOTYPE: Mice homozygous for a knock-out allele display a high degree of postnatal lethality, develop an organic aciduria, fatty liver and an unexpected diffuse cardiomyopathy with multifocal myocyte degeneration and necrosis, and show severe cold intolerance with prior fasting. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Acadm||
(F):5'- ATGTCAACAAAGCAAGCATAGTGC -3'
(R):5'- AACATGCCCTCTGTATTCCCAG -3'
(F):5'- TGCTAAGGTCACCTCAAGAGCTG -3'
(R):5'- CAGCCTTGCCGTTACCTG -3'