Incidental Mutation 'R6131:Lonp1'
ID 487156
Institutional Source Beutler Lab
Gene Symbol Lonp1
Ensembl Gene ENSMUSG00000041168
Gene Name lon peptidase 1, mitochondrial
Synonyms 1200017E13Rik, Prss15, LON
MMRRC Submission 044278-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6131 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 56921297-56933887 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 56921457 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 926 (E926G)
Ref Sequence ENSEMBL: ENSMUSP00000041814 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047226] [ENSMUST00000052832] [ENSMUST00000080492]
AlphaFold Q8CGK3
Predicted Effect probably benign
Transcript: ENSMUST00000047226
AA Change: E926G

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000041814
Gene: ENSMUSG00000041168
AA Change: E926G

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: ENSMUST00000052832
SMART Domains Protein: ENSMUSP00000052908
Gene: ENSMUSG00000049760

DomainStartEndE-ValueType
Pfam:QIL1 9 108 5.9e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000080492
SMART Domains Protein: ENSMUSP00000079340
Gene: ENSMUSG00000057863

DomainStartEndE-ValueType
Pfam:Ribosomal_L36e 2 100 2.4e-51 PFAM
Meta Mutation Damage Score 0.1702 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.8%
Validation Efficiency 96% (50/52)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031439G07Rik A T 15: 84,844,793 (GRCm39) W75R probably damaging Het
Aadacl2fm3 A G 3: 59,776,324 (GRCm39) K165R possibly damaging Het
Abca15 T C 7: 119,939,428 (GRCm39) V274A probably benign Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Ap1m2 T C 9: 21,207,797 (GRCm39) Y396C probably damaging Het
Apob T C 12: 8,065,874 (GRCm39) S405P probably benign Het
Arhgap26 G T 18: 39,419,638 (GRCm39) G533* probably null Het
Atxn2l T C 7: 126,102,337 (GRCm39) probably benign Het
Ccdc88c A T 12: 100,907,387 (GRCm39) L995H probably damaging Het
Ccn3 A G 15: 54,612,756 (GRCm39) D255G probably benign Het
Cep192 A G 18: 67,971,068 (GRCm39) H1023R possibly damaging Het
Cog5 T A 12: 31,936,220 (GRCm39) M589K possibly damaging Het
Col25a1 C A 3: 130,329,114 (GRCm39) P337Q probably damaging Het
Cyfip1 T G 7: 55,523,228 (GRCm39) V51G possibly damaging Het
Dnah7b A T 1: 46,292,626 (GRCm39) I3004F probably damaging Het
Dsg3 A T 18: 20,671,569 (GRCm39) D758V probably damaging Het
Dsg3 A G 18: 20,653,534 (GRCm39) probably null Het
Eml5 A T 12: 98,827,510 (GRCm39) H573Q probably damaging Het
Erp27 T C 6: 136,885,201 (GRCm39) D199G probably damaging Het
Flnb A G 14: 7,894,635 (GRCm38) Y811C possibly damaging Het
G6pd2 A T 5: 61,966,593 (GRCm39) S123C probably benign Het
Gm1818 T A 12: 48,602,319 (GRCm39) noncoding transcript Het
Gm29340 C T 2: 116,798,519 (GRCm39) noncoding transcript Het
H2bc7 C A 13: 23,758,310 (GRCm39) probably benign Het
Hcn2 G T 10: 79,569,742 (GRCm39) G581W probably damaging Het
Kidins220 T C 12: 25,042,313 (GRCm39) probably null Het
Lrp1 T C 10: 127,396,026 (GRCm39) I2415V probably benign Het
Mmel1 C T 4: 154,979,475 (GRCm39) H728Y probably damaging Het
Mmp10 A G 9: 7,503,633 (GRCm39) probably null Het
Myo16 T A 8: 10,619,877 (GRCm39) I1476N probably benign Het
Nectin3 G T 16: 46,215,515 (GRCm39) H76N probably damaging Het
Nphs2 G A 1: 156,153,521 (GRCm39) R204Q probably damaging Het
Or5ac15 T C 16: 58,940,256 (GRCm39) Y59C probably damaging Het
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Or8b53 T A 9: 38,667,362 (GRCm39) I126N probably damaging Het
Otx1 A T 11: 21,949,406 (GRCm39) L24H probably damaging Het
Pate10 T A 9: 35,652,840 (GRCm39) C27* probably null Het
Psme2b T C 11: 48,836,752 (GRCm39) D65G probably damaging Het
Rlf T C 4: 121,012,172 (GRCm39) K214E probably damaging Het
Rnasel A T 1: 153,630,206 (GRCm39) T241S probably damaging Het
Samd9l C G 6: 3,377,252 (GRCm39) G3A probably benign Het
Smg7 A G 1: 152,720,962 (GRCm39) probably null Het
Spag16 A G 1: 70,764,242 (GRCm39) probably null Het
Spata31d1c T A 13: 65,183,485 (GRCm39) D342E probably benign Het
Stab2 A G 10: 86,719,642 (GRCm39) probably null Het
Taar7b A T 10: 23,876,615 (GRCm39) Y260F probably benign Het
Vcpip1 T C 1: 9,817,517 (GRCm39) I289V probably damaging Het
Vmn2r130 C T 17: 23,282,629 (GRCm39) A103V probably benign Het
Vmn2r39 A G 7: 9,017,963 (GRCm39) V791A probably damaging Het
Vmn2r66 T A 7: 84,644,224 (GRCm39) I729F probably damaging Het
Zfp536 T A 7: 37,269,137 (GRCm39) D93V 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
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
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'- AGACTCAGGCTTAGGGCTTTTG -3'
(R):5'- GCAGAACCTGGCTATGACTG -3'

Sequencing Primer
(F):5'- CTCAGGCTTAGGGCTTTTGGAAAG -3'
(R):5'- TCCCTCACTGGCAAGGTGTTG -3'
Posted On 2017-10-10