Incidental Mutation 'R5621:Lonp1'
ID 441586
Institutional Source Beutler Lab
Gene Symbol Lonp1
Ensembl Gene ENSMUSG00000041168
Gene Name lon peptidase 1, mitochondrial
Synonyms 1200017E13Rik, Prss15, LON
MMRRC Submission 043279-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5621 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 56921297-56933887 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 56927263 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glycine at position 330 (A330G)
Ref Sequence ENSEMBL: ENSMUSP00000041814 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047226]
AlphaFold Q8CGK3
Predicted Effect probably benign
Transcript: ENSMUST00000047226
AA Change: A330G

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000041814
Gene: ENSMUSG00000041168
AA Change: A330G

DomainStartEndE-ValueType
LON 111 357 3.95e-62 SMART
low complexity region 389 404 N/A INTRINSIC
AAA 504 649 1.81e-14 SMART
Pfam:Lon_C 725 938 1e-71 PFAM
Meta Mutation Damage Score 0.0792 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 98% (63/64)
MGI Phenotype 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
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg8 T G 17: 85,003,421 (GRCm39) L417R probably damaging Het
Adrm1b G A 3: 92,335,664 (GRCm39) A346V probably damaging Het
Als2 A G 1: 59,231,049 (GRCm39) V854A probably benign Het
Bbox1 C T 2: 110,122,868 (GRCm39) W140* probably null Het
Ccdc28a A T 10: 18,092,016 (GRCm39) N110K probably benign Het
Chrna6 C T 8: 27,897,068 (GRCm39) E270K probably damaging Het
Cilp A G 9: 65,186,073 (GRCm39) K723E possibly damaging Het
Ciz1 C A 2: 32,261,753 (GRCm39) A455E probably damaging Het
Csmd3 T G 15: 48,177,374 (GRCm39) H388P possibly damaging Het
Dnajc8 A G 4: 132,280,563 (GRCm39) probably benign Het
Dnase1 G T 16: 3,856,982 (GRCm39) C164F probably benign Het
Dync2h1 A T 9: 7,120,909 (GRCm39) I2126K possibly damaging Het
Epha4 G T 1: 77,491,686 (GRCm39) probably benign Het
Fer1l6 T C 15: 58,430,175 (GRCm39) C201R probably damaging Het
Fgf8 T C 19: 45,730,821 (GRCm39) Y68C probably benign Het
Gabrb1 A T 5: 72,266,071 (GRCm39) I243F probably damaging Het
Gpam A C 19: 55,067,692 (GRCm39) S484A probably damaging Het
Hectd2 T A 19: 36,596,151 (GRCm39) N745K probably damaging Het
Hspa13 T C 16: 75,563,651 (GRCm39) probably benign Het
Ints2 A G 11: 86,133,773 (GRCm39) F426L probably benign Het
Ism1 A G 2: 139,520,641 (GRCm39) T18A probably damaging Het
Itih2 T A 2: 10,107,616 (GRCm39) Q650L probably benign Het
Jmjd4 T C 11: 59,341,219 (GRCm39) F50S probably damaging Het
Kif5b T C 18: 6,226,883 (GRCm39) N125S probably benign Het
Lrfn1 A G 7: 28,166,261 (GRCm39) I552V probably damaging Het
Mcph1 A G 8: 18,682,186 (GRCm39) E441G probably damaging Het
Mdn1 T A 4: 32,716,371 (GRCm39) H2144Q possibly damaging Het
Mms19 A G 19: 41,954,752 (GRCm39) S56P probably benign Het
Mrgprb3 A G 7: 48,293,116 (GRCm39) I145T probably benign Het
Myh11 G A 16: 14,062,719 (GRCm39) T287I probably damaging Het
Npas2 A G 1: 39,398,794 (GRCm39) T730A probably benign Het
Or4c108 T C 2: 88,803,810 (GRCm39) I142V probably benign Het
Or4c15b G A 2: 89,112,697 (GRCm39) P281L probably damaging Het
Pcdhgb1 A G 18: 37,815,222 (GRCm39) E571G possibly damaging Het
Pcx T A 19: 4,669,195 (GRCm39) V731E possibly damaging Het
Pgm2 T A 5: 64,269,381 (GRCm39) Y489* probably null Het
Rrp12 T C 19: 41,868,856 (GRCm39) T541A probably benign Het
Ryr3 C T 2: 112,731,329 (GRCm39) W660* probably null Het
Sertad2 T A 11: 20,598,061 (GRCm39) F86I possibly damaging Het
Slc11a1 G A 1: 74,420,065 (GRCm39) G191D probably damaging Het
Slc22a22 G T 15: 57,122,547 (GRCm39) F143L probably benign Het
Slc22a28 C T 19: 8,048,376 (GRCm39) V424I probably benign Het
Slc7a11 T G 3: 50,393,324 (GRCm39) K106N probably damaging Het
Smgc A T 15: 91,728,623 (GRCm39) D121V probably damaging Het
Sphk1 C T 11: 116,427,192 (GRCm39) probably benign Het
Spock3 A T 8: 63,597,040 (GRCm39) T118S probably benign Het
Stk17b G T 1: 53,810,943 (GRCm39) S54* probably null Het
Sycp2 A G 2: 178,023,711 (GRCm39) I435T probably benign Het
Tm2d3 G T 7: 65,351,366 (GRCm39) D207Y probably damaging Het
Top2b A T 14: 16,387,280 (GRCm38) N123Y probably damaging Het
Unc80 A G 1: 66,677,202 (GRCm39) T2044A possibly damaging Het
Usp6nl A G 2: 6,445,243 (GRCm39) S407G probably benign Het
Vmn1r195 G A 13: 22,462,559 (GRCm39) V10I probably benign Het
Zfp292 C T 4: 34,811,703 (GRCm39) R447H probably damaging Het
Other mutations in Lonp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00327:Lonp1 APN 17 56,926,265 (GRCm39) missense probably damaging 1.00
IGL00934:Lonp1 APN 17 56,921,683 (GRCm39) missense probably benign 0.21
IGL01065:Lonp1 APN 17 56,922,500 (GRCm39) unclassified probably benign
IGL01343:Lonp1 APN 17 56,922,586 (GRCm39) missense possibly damaging 0.93
IGL01734:Lonp1 APN 17 56,923,026 (GRCm39) missense probably damaging 1.00
IGL02141:Lonp1 APN 17 56,922,086 (GRCm39) missense probably benign 0.19
IGL02979:Lonp1 APN 17 56,928,940 (GRCm39) missense probably benign 0.02
chaney UTSW 17 56,929,515 (GRCm39) missense probably damaging 1.00
Karloff UTSW 17 56,925,406 (GRCm39) missense probably benign
R0015:Lonp1 UTSW 17 56,925,406 (GRCm39) missense probably benign
R0015:Lonp1 UTSW 17 56,925,406 (GRCm39) missense probably benign
R0863:Lonp1 UTSW 17 56,925,331 (GRCm39) missense probably damaging 1.00
R1343:Lonp1 UTSW 17 56,927,272 (GRCm39) missense probably damaging 1.00
R1735:Lonp1 UTSW 17 56,921,956 (GRCm39) missense probably damaging 1.00
R1975:Lonp1 UTSW 17 56,922,068 (GRCm39) missense possibly damaging 0.69
R1976:Lonp1 UTSW 17 56,922,068 (GRCm39) missense possibly damaging 0.69
R1977:Lonp1 UTSW 17 56,922,068 (GRCm39) missense possibly damaging 0.69
R2484:Lonp1 UTSW 17 56,921,659 (GRCm39) missense probably damaging 1.00
R2895:Lonp1 UTSW 17 56,922,562 (GRCm39) missense probably damaging 1.00
R3123:Lonp1 UTSW 17 56,933,488 (GRCm39) missense possibly damaging 0.79
R3125:Lonp1 UTSW 17 56,933,488 (GRCm39) missense possibly damaging 0.79
R3429:Lonp1 UTSW 17 56,925,337 (GRCm39) missense probably damaging 1.00
R3726:Lonp1 UTSW 17 56,925,310 (GRCm39) unclassified probably benign
R3767:Lonp1 UTSW 17 56,928,952 (GRCm39) missense possibly damaging 0.80
R4618:Lonp1 UTSW 17 56,929,511 (GRCm39) missense probably benign 0.03
R4859:Lonp1 UTSW 17 56,933,587 (GRCm39) missense probably benign 0.00
R4951:Lonp1 UTSW 17 56,927,335 (GRCm39) missense possibly damaging 0.64
R5208:Lonp1 UTSW 17 56,924,793 (GRCm39) missense probably damaging 1.00
R5620:Lonp1 UTSW 17 56,927,263 (GRCm39) missense probably benign 0.05
R5622:Lonp1 UTSW 17 56,927,263 (GRCm39) missense probably benign 0.05
R6131:Lonp1 UTSW 17 56,921,457 (GRCm39) missense probably benign 0.01
R6377:Lonp1 UTSW 17 56,928,961 (GRCm39) missense possibly damaging 0.90
R6692:Lonp1 UTSW 17 56,926,230 (GRCm39) missense probably damaging 1.00
R7052:Lonp1 UTSW 17 56,933,549 (GRCm39) missense probably benign 0.31
R7131:Lonp1 UTSW 17 56,924,814 (GRCm39) missense probably damaging 1.00
R7295:Lonp1 UTSW 17 56,929,495 (GRCm39) missense possibly damaging 0.70
R7739:Lonp1 UTSW 17 56,933,620 (GRCm39) missense probably benign
R7792:Lonp1 UTSW 17 56,929,515 (GRCm39) missense probably damaging 1.00
R8307:Lonp1 UTSW 17 56,933,573 (GRCm39) missense probably benign 0.01
R8546:Lonp1 UTSW 17 56,933,702 (GRCm39) missense probably benign 0.00
R9257:Lonp1 UTSW 17 56,927,516 (GRCm39) nonsense probably null
R9586:Lonp1 UTSW 17 56,924,839 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCTTCAAGAGAGACAGGGCC -3'
(R):5'- CAGAGCTATCTATCACTGAAGCC -3'

Sequencing Primer
(F):5'- GCCTTATAGAGCCGCTTAAGGATC -3'
(R):5'- CTATCACTGAAGCCAGAGTATGTG -3'
Posted On 2016-11-08