|Institutional Source||Beutler Lab|
|Gene Name||NADH dehydrogenase (ubiquinone) complex I, assembly factor 5|
|Is this an essential gene?||Possibly non essential (E-score: 0.479)|
|Stock #||R3794 (G1)|
|Chromosomal Location||140170649-140203689 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 140202923 bp|
|Amino Acid Change||Methionine to Lysine at position 279 (M279K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000035325 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000044825]|
|Predicted Effect||possibly damaging
AA Change: M279K
PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
AA Change: M279K
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.5665|
|Coding Region Coverage||
|Validation Efficiency||97% (37/38)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The NADH-ubiquinone oxidoreductase complex (complex I) of the mitochondrial respiratory chain catalyzes the transfer of electrons from NADH to ubiquinone, and consists of at least 43 subunits. The complex is located in the inner mitochondrial membrane. This gene encodes a mitochondrial protein that is associated with the matrix face of the mitochondrial inner membrane and is required for complex I assembly. A mutation in this gene results in mitochondrial complex I deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ndufaf5||
(F):5'- GGATTCAAACAGCTTTGCTCAG -3'
(R):5'- AGCGGCTTGGAAACAGACAC -3'
(F):5'- CAGTAAGCAGCCTAGCTCTAGTTTG -3'
(R):5'- CTTGGAAACAGACACAGATAAGATC -3'