|Institutional Source||Beutler Lab|
|Gene Name||nucleotide binding protein-like|
|Is this an essential gene?||Possibly essential (E-score: 0.634)|
|Stock #||R0060 (G1)|
|Chromosomal Location||52097737-52312744 bp(+) (GRCm38)|
|Type of Mutation||splice site|
|DNA Base Change (assembly)||T to C at 52310687 bp|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000044292 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000040090]|
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||98% (60/61)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Mrp/NBP35 ATP-binding proteins family. The encoded protein is required for the assembly of the respiratory chain NADH dehydrogenase (complex I), an oligomeric enzymatic complex located in the inner mitochondrial membrane. Mutations in this gene cause mitochondrial complex I deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Nubpl||
(F):5'- AGGTCGCCTTCTAAGCACTTACCC -3'
(R):5'- GGACGATAGCATCACGAAGTCACAG -3'
(F):5'- AGCACTTACCCTTAAATAGTGAGAG -3'
(R):5'- CGAAGTCACAGTTTCTCAAGAG -3'