Incidental Mutation 'IGL01343:Lonp1'
ID74956
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 #IGL01343
Quality Score
Status
Chromosome17
Chromosomal Location56614301-56626903 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 56615586 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 680 (L680P)
Ref Sequence ENSEMBL: ENSMUSP00000041814 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047226] [ENSMUST00000080492]
Predicted Effect possibly damaging
Transcript: ENSMUST00000047226
AA Change: L680P

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000041814
Gene: ENSMUSG00000041168
AA Change: L680P

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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530053A07Rik A G 7: 28,150,702 Q1191R probably benign Het
Abcd2 A T 15: 91,149,213 probably benign Het
Adgrf1 T A 17: 43,313,195 F835L probably null Het
Akp3 G T 1: 87,127,136 probably benign Het
BC106179 G T 16: 23,224,287 probably benign Het
Bysl C A 17: 47,601,889 M325I probably benign Het
C330027C09Rik A G 16: 49,013,188 I551V probably damaging Het
Crnn A G 3: 93,148,326 R140G probably benign Het
Cts8 T C 13: 61,249,196 probably benign Het
Cxcr4 T C 1: 128,589,555 Y121C probably damaging Het
Ddr2 T C 1: 169,984,581 T691A probably benign Het
Dhx30 A T 9: 110,086,245 F782I probably benign Het
Efcab5 C T 11: 77,129,930 G655D probably damaging Het
Eif2ak4 G A 2: 118,422,089 V381I probably benign Het
Enpp3 A T 10: 24,805,922 Y295* probably null Het
Fbxo28 T C 1: 182,317,012 E329G probably damaging Het
Fmnl2 T A 2: 53,123,545 V972D probably damaging Het
Fmr1 A G X: 68,688,295 D22G probably damaging Het
Fsip2 A G 2: 82,999,819 T6886A possibly damaging Het
Gadl1 A G 9: 116,074,112 *503W probably null Het
Gpc6 A T 14: 117,186,812 K104I possibly damaging Het
Hecw2 T A 1: 53,826,976 T1509S probably damaging Het
Lrrc66 A T 5: 73,608,463 N412K probably damaging Het
Marco C T 1: 120,494,740 probably null Het
Mdga2 T C 12: 66,723,109 T206A probably damaging Het
Mogat2 C A 7: 99,232,568 A54S possibly damaging Het
Myh15 T A 16: 49,155,677 D1369E probably benign Het
Nckap1 A T 2: 80,519,842 S840T possibly damaging Het
Ncor1 C T 11: 62,325,486 probably null Het
Nfrkb C A 9: 31,388,954 L14I probably damaging Het
Notch1 C A 2: 26,472,905 A950S probably benign Het
Notch3 T C 17: 32,143,436 E1405G probably benign Het
Nsd2 C A 5: 33,843,578 D146E probably damaging Het
Oc90 T C 15: 65,889,591 T193A probably benign Het
Olfr1090 T A 2: 86,754,499 K80* probably null Het
Olfr1356 A T 10: 78,847,597 V106E probably damaging Het
Olfr150 C A 9: 39,737,715 A300D probably damaging Het
Orc2 A T 1: 58,492,855 probably null Het
Pacsin2 T C 15: 83,386,686 H254R probably damaging Het
Pif1 T A 9: 65,589,562 M319K probably damaging Het
Prag1 G A 8: 36,103,046 R261H possibly damaging Het
Ptprq G A 10: 107,638,839 T1335I probably damaging Het
Ryr3 A G 2: 112,660,054 Y3812H probably damaging Het
Sgo2b G A 8: 63,927,315 Q828* probably null Het
Skint6 A G 4: 113,283,626 V6A probably benign Het
Slc16a13 A G 11: 70,220,514 I55T probably damaging Het
Slc22a3 A T 17: 12,425,629 W490R probably damaging Het
Speer4b G T 5: 27,497,883 H208N probably benign Het
Tas2r124 T C 6: 132,755,415 L229S probably damaging Het
Tlr4 T C 4: 66,833,887 probably benign Het
Tmed1 G T 9: 21,510,073 T35K probably damaging Het
Tubgcp5 C A 7: 55,796,031 probably benign Het
Ugt2b34 A G 5: 86,904,388 S250P possibly damaging Het
Zfp516 A G 18: 82,993,096 T1085A probably damaging Het
Znfx1 T C 2: 167,037,363 I1698V probably benign Het
Zswim8 G T 14: 20,713,341 W385C 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
IGL01734:Lonp1 APN 17 56616026 missense probably damaging 1.00
IGL02141:Lonp1 APN 17 56615086 missense probably benign 0.19
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 On2013-10-07