|Institutional Source||Beutler Lab|
|Gene Name||nitric oxide associated 1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7879 (G1)|
|Chromosomal Location||77294182-77310084 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 77297197 bp|
|Amino Acid Change||Methionine to Valine at position 592 (M592V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000045948 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000047860]|
|Predicted Effect||probably benign
AA Change: M592V
PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
AA Change: M592V
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a nuclear-encoded GTPase that functions in the mitochondrion. Upon translation, this protein is imported into the nucleus and then into the nucleolus before being exported to the mitochondrion. The encoded protein is required for oxygen-dependent regulation of mitochondrial respiratory complexes and for mitochondrial protein synthesis. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality during organogenesis associated with developmental retardation, decreased cell proliferation and apoptosis, increased cell necrosis, and abnormal mitochondrial morphology and physiology. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Noa1||
(F):5'- TTCCAGGACACAGAGGACGAAC -3'
(R):5'- GCCACAGTTGATGGGTTTCAG -3'
(F):5'- GGACACAGAGGACGAACCAAAAC -3'
(R):5'- ACGAAGTCTCACTGTATAGCTCTGAC -3'