|Institutional Source||Beutler Lab|
|Gene Name||NADH dehydrogenase (ubiquinone) 1 alpha subcomplex assembly factor 7|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R5514 (G1)|
|Chromosomal Location||78937135-78948052 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 78937622 bp|
|Amino Acid Change||Tyrosine to Histidine at position 57 (Y57H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000024887 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000024885] [ENSMUST00000024887]|
|Predicted Effect||probably benign
|Predicted Effect||probably damaging
AA Change: Y57H
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: Y57H
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an assembly factor protein which helps in the assembly and stabilization of Complex I, a large multi-subunit enzyme in the mitochondrial respiratory chain. Complex I is involved in several physiological activities in the cell, including metabolite transport and ATP synthesis. The encoded protein is a methyltransferase which methylates Arg85 of a subunit of Complex I in the early stages of its assembly. A pseudogene related to this gene is located on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
PHENOTYPE: Embryos homozygous for a gene trap mutation die prenatally. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ndufaf7||
(F):5'- TAGTGATGAACGAGGCATCC -3'
(R):5'- ACTGCCCTTTAACGCAAATG -3'
(F):5'- CGAGGCATCCTTACAAGCTTTAGG -3'
(R):5'- GCCCTTTAACGCAAATGACAGATAAG -3'