|Institutional Source||Beutler Lab|
|Gene Name||electron transferring flavoprotein, alpha polypeptide|
|Is this an essential gene?||Possibly non essential (E-score: 0.323)|
|Stock #||R6835 (G1)|
|Chromosomal Location||55454508-55512243 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 55495819 bp|
|Amino Acid Change||Valine to Alanine at position 64 (V64A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000034866 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000034866]|
|Predicted Effect||probably benign
AA Change: V64A
PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
AA Change: V64A
|Coding Region Coverage||
|Validation Efficiency||100% (44/44)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ETFA participates in catalyzing the initial step of the mitochondrial fatty acid beta-oxidation. It shuttles electrons between primary flavoprotein dehydrogenases and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. Defects in electron-transfer-flavoprotein have been implicated in type II glutaricaciduria in which multiple acyl-CoA dehydrogenase deficiencies result in large excretion of glutaric, lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Etfa||
(F):5'- TCCAAAATCAATGGTGTGAGTTCC -3'
(R):5'- TCTGACTCTCAAGTGCTGGG -3'
(F):5'- GGTGTGAGTTCCTCTGAGAATTAAAC -3'
(R):5'- CTGACTCTCAAGTGCTGGGATTAAAG -3'