|Institutional Source||Beutler Lab|
|Gene Name||AU RNA binding protein/enoyl-coenzyme A hydratase|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R1515 (G1)|
|Chromosomal Location||52835119-52929681 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 52835496 bp (GRCm38)|
|Amino Acid Change||Proline to Leucine at position 308 (P308L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000021913 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000021913]|
|AlphaFold||no structure available at present|
AA Change: P308L
PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
AA Change: P308L
|Meta Mutation Damage Score||0.0797|
|Coding Region Coverage||
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes bifunctional mitochondrial protein that has both RNA-binding and hydratase activities. The encoded protein is a methylglutaconyl-CoA hydratase that catalyzes the hydration of 3-methylglutaconyl-CoA to 3-hydroxy-3-methyl-glutaryl-CoA, a critical step in the leucine degradation pathway. This protein also binds AU-rich elements (AREs) found in the 3' UTRs of rapidly decaying mRNAs including c-fos, c-myc and granulocyte/ macrophage colony stimulating factor. ARE elements are involved in directing RNA to rapid degradation and deadenylation. This protein is localizes to the mitochondrial matrix and the inner mitochondrial membrane and may be involved in mitochondrial protein synthesis. Mutations in this gene are the cause of 3-methylglutaconic aciduria, type I. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Auh||
(F):5'- CGTGTTTTGACCACGGACATTGC -3'
(R):5'- TGTGTGCTCTGATCCAGGCCATTG -3'
(F):5'- CTGAATAAATATGACATGGCGCAC -3'
(R):5'- TGGCCCCATTGTTAGGAGAC -3'