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|Institutional Source||Beutler Lab|
|Gene Name||NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R0322 (G1)|
|Chromosomal Location||36036326-36049406 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 36036622 bp|
|Amino Acid Change||Aspartic acid to Glycine at position 134 (D134G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000065352 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000070112]|
|Predicted Effect||probably benign
AA Change: D134G
PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
AA Change: D134G
|Meta Mutation Damage Score||0.1093|
|Coding Region Coverage||
|Validation Efficiency||98% (58/59)|
|MGI Phenotype||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 complex I 19 kDa subunit family. Mammalian complex I is composed of 45 different subunits. This protein has NADH dehydrogenase activity and oxidoreductase activity. It plays an important role in transfering electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ndufa8||
(F):5'- TGACCAAGTGTGGACCGTCAAC -3'
(R):5'- ACTAACCAGTGAGTGAGTCCCAGAG -3'
(F):5'- TGTGGACCGTCAACCCATC -3'
(R):5'- TGTCCTACCATATAGAGGGTCAG -3'