Incidental Mutation 'IGL02141:Lonp1'
ID281544
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lonp1
Ensembl Gene ENSMUSG00000041168
Gene Namelon peptidase 1, mitochondrial
Synonyms1200017E13Rik, LON, Prss15
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02141
Quality Score
Status
Chromosome17
Chromosomal Location56614301-56626903 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 56615086 bp
ZygosityHeterozygous
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]
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: 146,183,465 A188T probably benign Het
2310022B05Rik A T 8: 124,637,906 probably benign Het
4931423N10Rik T C 2: 23,230,200 F203L probably damaging Het
Arntl2 T A 6: 146,828,095 probably benign Het
Atf6b C A 17: 34,653,277 H539Q probably benign Het
Bpifb5 G T 2: 154,229,557 probably null Het
Cep89 T A 7: 35,420,924 M377K probably damaging Het
Clpx G T 9: 65,312,118 probably null Het
Cops5 T C 1: 10,035,117 K47E probably damaging Het
Cryba2 T C 1: 74,892,784 N35S probably benign Het
Ddx27 A G 2: 167,020,523 K162E possibly damaging Het
Dhx36 A G 3: 62,493,889 S319P probably benign Het
Dram2 A G 3: 106,571,696 probably benign Het
Eci2 T A 13: 34,978,673 T300S probably benign Het
Egf C A 3: 129,739,982 G70* probably null Het
Eif5b T C 1: 38,032,322 V444A probably benign Het
Elf3 T C 1: 135,257,707 D23G possibly damaging Het
Epb41l4b A T 4: 57,103,422 probably null Het
Fam167a T A 14: 63,452,259 S2T probably benign Het
Flrt3 A G 2: 140,660,688 V340A probably damaging Het
Gimap3 T C 6: 48,765,378 E206G probably benign Het
Gp6 T C 7: 4,394,104 probably benign Het
Gpr158 A T 2: 21,783,290 M581L probably damaging Het
Hapln3 A G 7: 79,118,145 V167A probably damaging Het
Hnrnpll G A 17: 80,050,713 T203I probably benign Het
Ighv3-6 A G 12: 114,288,362 I47T probably damaging Het
Iqgap1 G A 7: 80,738,121 T926M probably damaging Het
Lpp C T 16: 24,761,615 S27F probably damaging Het
Lrit2 T C 14: 37,068,074 probably benign Het
Luc7l C A 17: 26,253,080 T17K probably damaging Het
Mroh1 G T 15: 76,446,599 S1161I possibly damaging Het
Muc5b T G 7: 141,853,367 C1091G unknown Het
Mut A G 17: 40,938,817 T228A possibly damaging Het
Nppb A T 4: 147,986,006 I11F probably benign Het
Nsf A T 11: 103,828,525 D650E probably benign Het
Ogdh A G 11: 6,355,015 K907E probably damaging Het
Olfr1351 A G 10: 79,017,721 Y133C probably damaging Het
Olfr344 A G 2: 36,568,808 D70G probably damaging Het
Olfr362 G A 2: 37,105,425 S75F probably benign Het
Pcnx A T 12: 81,860,382 Q4L possibly damaging Het
Pgc T A 17: 47,726,931 L9H probably damaging Het
Pikfyve T A 1: 65,246,397 S887T probably benign Het
Plec T C 15: 76,175,615 D3239G probably damaging Het
Pole4 T C 6: 82,648,034 T116A probably benign Het
Prpf8 A G 11: 75,490,672 N300D possibly damaging Het
Rara T A 11: 98,968,081 Y119N probably damaging Het
Rbck1 G T 2: 152,318,374 R462S possibly damaging Het
Setdb2 C T 14: 59,402,315 R709Q probably damaging Het
Slfn2 C A 11: 83,069,844 N216K probably benign Het
Suox A G 10: 128,672,098 probably benign Het
Tars T A 15: 11,391,194 Y283F probably damaging Het
Trpm4 A T 7: 45,318,179 probably null Het
Ubtd2 A T 11: 32,499,262 K36N probably benign Het
Unkl T C 17: 25,229,434 L327P probably damaging Het
Vmn1r11 T A 6: 57,137,379 Y9* probably null Het
Vps13b T C 15: 35,572,081 V948A probably benign Het
Zbtb17 A G 4: 141,464,953 H403R probably damaging Het
Other mutations in Lonp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00327:Lonp1 APN 17 56619265 missense probably damaging 1.00
IGL00934:Lonp1 APN 17 56614683 missense probably benign 0.21
IGL01065:Lonp1 APN 17 56615500 unclassified probably benign
IGL01343:Lonp1 APN 17 56615586 missense possibly damaging 0.93
IGL01734:Lonp1 APN 17 56616026 missense probably damaging 1.00
IGL02979:Lonp1 APN 17 56621940 missense probably benign 0.02
R0015:Lonp1 UTSW 17 56618406 missense probably benign
R0015:Lonp1 UTSW 17 56618406 missense probably benign
R0863:Lonp1 UTSW 17 56618331 missense probably damaging 1.00
R1343:Lonp1 UTSW 17 56620272 missense probably damaging 1.00
R1735:Lonp1 UTSW 17 56614956 missense probably damaging 1.00
R1975:Lonp1 UTSW 17 56615068 missense possibly damaging 0.69
R1976:Lonp1 UTSW 17 56615068 missense possibly damaging 0.69
R1977:Lonp1 UTSW 17 56615068 missense possibly damaging 0.69
R2484:Lonp1 UTSW 17 56614659 missense probably damaging 1.00
R2895:Lonp1 UTSW 17 56615562 missense probably damaging 1.00
R3123:Lonp1 UTSW 17 56626488 missense possibly damaging 0.79
R3125:Lonp1 UTSW 17 56626488 missense possibly damaging 0.79
R3429:Lonp1 UTSW 17 56618337 missense probably damaging 1.00
R3726:Lonp1 UTSW 17 56618310 unclassified probably benign
R3767:Lonp1 UTSW 17 56621952 missense possibly damaging 0.80
R4618:Lonp1 UTSW 17 56622511 missense probably benign 0.03
R4859:Lonp1 UTSW 17 56626587 missense probably benign 0.00
R4951:Lonp1 UTSW 17 56620335 missense possibly damaging 0.64
R5208:Lonp1 UTSW 17 56617793 missense probably damaging 1.00
R5620:Lonp1 UTSW 17 56620263 missense probably benign 0.05
R5621:Lonp1 UTSW 17 56620263 missense probably benign 0.05
R5622:Lonp1 UTSW 17 56620263 missense probably benign 0.05
R6131:Lonp1 UTSW 17 56614457 missense probably benign 0.01
R6377:Lonp1 UTSW 17 56621961 missense possibly damaging 0.90
R6692:Lonp1 UTSW 17 56619230 missense probably damaging 1.00
R7052:Lonp1 UTSW 17 56626549 missense probably benign 0.31
R7131:Lonp1 UTSW 17 56617814 missense probably damaging 1.00
R7295:Lonp1 UTSW 17 56622495 missense possibly damaging 0.70
Posted On2015-04-16