|Institutional Source||Beutler Lab|
|Gene Name||lon peptidase 1, mitochondrial|
|Synonyms||1200017E13Rik, LON, Prss15|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R5208 (G1)|
|Chromosomal Location||56614301-56626903 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 56617793 bp|
|Amino Acid Change||Valine to Alanine at position 538 (V538A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000041814 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000047226] [ENSMUST00000080492]|
|Predicted Effect||probably damaging
AA Change: V538A
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: V538A
|Predicted Effect||probably benign
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial matrix protein that belongs to the Lon family of ATP-dependent proteases. This protein mediates the selective degradation of misfolded, unassembled or oxidatively damaged polypeptides in the mitochondrial matrix. It may also have a chaperone function in the assembly of inner membrane protein complexes, and participate in the regulation of mitochondrial gene expression and maintenance of the integrity of the mitochondrial genome. Decreased expression of this gene has been noted in a patient with hereditary spastic paraplegia (PMID:18378094). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality with embryonic growth retardation, small size and decreased mitochondrial DNA content. Mice heterozygous for this allele exhibit reduced chemically-induced tumors. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Lonp1||
(F):5'- ACAACTAGTGTACCTCCTTGTC -3'
(R):5'- TGCTGGATGATAGCCCCTTG -3'
(F):5'- TTGTCCCACCCAACCACATGG -3'
(R):5'- GATGATAGCCCCTTGGTCTTTGC -3'