Incidental Mutation 'IGL02141:Lonp1'
ID 281544
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lonp1
Ensembl Gene ENSMUSG00000041168
Gene Name lon peptidase 1, mitochondrial
Synonyms 1200017E13Rik, Prss15, LON
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02141
Quality Score
Status
Chromosome 17
Chromosomal Location 56921297-56933887 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 56922086 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 765 (S765T)
Ref Sequence ENSEMBL: ENSMUSP00000041814 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047226] [ENSMUST00000080492]
AlphaFold Q8CGK3
Predicted Effect probably benign
Transcript: ENSMUST00000047226
AA Change: S765T

PolyPhen 2 Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000041814
Gene: ENSMUSG00000041168
AA Change: S765T

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
Predicted Effect probably benign
Transcript: ENSMUST00000080492
SMART Domains Protein: ENSMUSP00000079340
Gene: ENSMUSG00000057863

DomainStartEndE-ValueType
Pfam:Ribosomal_L36e 2 100 2.4e-51 PFAM
Coding Region Coverage
Validation Efficiency
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J03Rik C T 5: 146,120,275 (GRCm39) A188T probably benign Het
2310022B05Rik A T 8: 125,364,645 (GRCm39) probably benign Het
Atf6b C A 17: 34,872,251 (GRCm39) H539Q probably benign Het
Bmal2 T A 6: 146,729,593 (GRCm39) probably benign Het
Bpifb5 G T 2: 154,071,477 (GRCm39) probably null Het
Cep89 T A 7: 35,120,349 (GRCm39) M377K probably damaging Het
Clpx G T 9: 65,219,400 (GRCm39) probably null Het
Cops5 T C 1: 10,105,342 (GRCm39) K47E probably damaging Het
Cryba2 T C 1: 74,931,943 (GRCm39) N35S probably benign Het
Ddx27 A G 2: 166,862,443 (GRCm39) K162E possibly damaging Het
Dhx36 A G 3: 62,401,310 (GRCm39) S319P probably benign Het
Dram2 A G 3: 106,479,012 (GRCm39) probably benign Het
Eci2 T A 13: 35,162,656 (GRCm39) T300S probably benign Het
Egf C A 3: 129,533,631 (GRCm39) G70* probably null Het
Eif5b T C 1: 38,071,403 (GRCm39) V444A probably benign Het
Elf3 T C 1: 135,185,445 (GRCm39) D23G possibly damaging Het
Epb41l4b A T 4: 57,103,422 (GRCm39) probably null Het
Fam167a T A 14: 63,689,708 (GRCm39) S2T probably benign Het
Flrt3 A G 2: 140,502,608 (GRCm39) V340A probably damaging Het
Gimap3 T C 6: 48,742,312 (GRCm39) E206G probably benign Het
Gp6 T C 7: 4,397,103 (GRCm39) probably benign Het
Gpr158 A T 2: 21,788,101 (GRCm39) M581L probably damaging Het
Hapln3 A G 7: 78,767,893 (GRCm39) V167A probably damaging Het
Hnrnpll G A 17: 80,358,142 (GRCm39) T203I probably benign Het
Ighv3-6 A G 12: 114,251,982 (GRCm39) I47T probably damaging Het
Iqgap1 G A 7: 80,387,869 (GRCm39) T926M probably damaging Het
Lpp C T 16: 24,580,365 (GRCm39) S27F probably damaging Het
Lrit2 T C 14: 36,790,031 (GRCm39) probably benign Het
Luc7l C A 17: 26,472,054 (GRCm39) T17K probably damaging Het
Mmut A G 17: 41,249,708 (GRCm39) T228A possibly damaging Het
Mroh1 G T 15: 76,330,799 (GRCm39) S1161I possibly damaging Het
Muc5b T G 7: 141,407,104 (GRCm39) C1091G unknown Het
Nppb A T 4: 148,070,463 (GRCm39) I11F probably benign Het
Nsf A T 11: 103,719,351 (GRCm39) D650E probably benign Het
Ogdh A G 11: 6,305,015 (GRCm39) K907E probably damaging Het
Or1b1 G A 2: 36,995,437 (GRCm39) S75F probably benign Het
Or1j15 A G 2: 36,458,820 (GRCm39) D70G probably damaging Het
Or7a35 A G 10: 78,853,555 (GRCm39) Y133C probably damaging Het
Pcnx1 A T 12: 81,907,156 (GRCm39) Q4L possibly damaging Het
Pgc T A 17: 48,037,856 (GRCm39) L9H probably damaging Het
Pikfyve T A 1: 65,285,556 (GRCm39) S887T probably benign Het
Plec T C 15: 76,059,815 (GRCm39) D3239G probably damaging Het
Pole4 T C 6: 82,625,015 (GRCm39) T116A probably benign Het
Potegl T C 2: 23,120,212 (GRCm39) F203L probably damaging Het
Prpf8 A G 11: 75,381,498 (GRCm39) N300D possibly damaging Het
Rara T A 11: 98,858,907 (GRCm39) Y119N probably damaging Het
Rbck1 G T 2: 152,160,294 (GRCm39) R462S possibly damaging Het
Setdb2 C T 14: 59,639,764 (GRCm39) R709Q probably damaging Het
Slfn2 C A 11: 82,960,670 (GRCm39) N216K probably benign Het
Suox A G 10: 128,507,967 (GRCm39) probably benign Het
Tars1 T A 15: 11,391,280 (GRCm39) Y283F probably damaging Het
Trpm4 A T 7: 44,967,603 (GRCm39) probably null Het
Ubtd2 A T 11: 32,449,262 (GRCm39) K36N probably benign Het
Unkl T C 17: 25,448,408 (GRCm39) L327P probably damaging Het
Vmn1r11 T A 6: 57,114,364 (GRCm39) Y9* probably null Het
Vps13b T C 15: 35,572,227 (GRCm39) V948A probably benign Het
Zbtb17 A G 4: 141,192,264 (GRCm39) H403R 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
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
R5621: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
Posted On 2015-04-16