Mutagenetix > Incidental Mutation

Incidental Mutation 'R4618:Lonp1'

345139

Institutional Source

Beutler Lab

Gene Symbol

Lonp1

Ensembl Gene

ENSMUSG00000041168

Gene Name

lon peptidase 1, mitochondrial

Synonyms

1200017E13Rik, Prss15, LON

MMRRC Submission

041884-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4618 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

56921297-56933887 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 56929511 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 175 (H175Q)

Ref Sequence

ENSEMBL: ENSMUSP00000041814 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047226]

AlphaFold

Q8CGK3

Predicted Effect

probably benign
Transcript: ENSMUST00000047226
AA Change: H175Q

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000041814
Gene: ENSMUSG00000041168
AA Change: H175Q

Domain	Start	End	E-Value	Type
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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

98% (89/91)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432M17Rik	A	T	3: 121,473,095 (GRCm39)	K83N	unknown	Het
Adamtsl3	T	A	7: 82,255,728 (GRCm39)	M1580K	probably benign	Het
Adprhl1	A	G	8: 13,292,250 (GRCm39)		probably null	Het
Akap3	G	T	6: 126,843,406 (GRCm39)	C675F	probably benign	Het
Asap1	A	T	15: 64,024,744 (GRCm39)	H318Q	probably damaging	Het
Atf7ip	G	T	6: 136,542,104 (GRCm39)	A18S	probably damaging	Het
Bcl2a1a	A	C	9: 88,839,357 (GRCm39)	N85T	probably damaging	Het
Btnl6	G	A	17: 34,733,120 (GRCm39)	P248S	probably damaging	Het
C9	A	G	15: 6,520,944 (GRCm39)	D51G	probably damaging	Het
Ccdc14	T	A	16: 34,526,865 (GRCm39)	C257S	probably benign	Het
Cd5l	A	G	3: 87,275,926 (GRCm39)	T299A	probably benign	Het
Cstdc3	T	A	16: 36,132,952 (GRCm39)	D76E	possibly damaging	Het
Endou	C	T	15: 97,611,763 (GRCm39)	V292M	possibly damaging	Het
Fbxo36	T	C	1: 84,877,749 (GRCm39)	I137T	probably damaging	Het
Fcer1a	T	C	1: 173,050,208 (GRCm39)	I161V	possibly damaging	Het
Fsip2	A	G	2: 82,818,103 (GRCm39)	Y4612C	probably benign	Het
Gcnt2	T	A	13: 41,111,670 (GRCm39)	L353*	probably null	Het
Ghrhr	T	C	6: 55,358,739 (GRCm39)	F172S	probably damaging	Het
Gins1	T	A	2: 150,759,781 (GRCm39)		probably null	Het
Gm16519	T	G	17: 71,236,237 (GRCm39)	L62R	probably damaging	Het
Gpr20	T	C	15: 73,567,585 (GRCm39)	N268S	probably benign	Het
Greb1l	A	G	18: 10,498,965 (GRCm39)	T283A	probably benign	Het
Grin2c	T	A	11: 115,143,573 (GRCm39)	D729V	probably damaging	Het
Heatr4	T	G	12: 84,024,841 (GRCm39)	T327P	probably damaging	Het
Hes2	A	C	4: 152,244,845 (GRCm39)	S105R	probably benign	Het
Hsph1	A	G	5: 149,542,308 (GRCm39)	V705A	probably benign	Het
Ighv1-82	T	C	12: 115,916,280 (GRCm39)	T77A	probably benign	Het
Itih1	A	T	14: 30,651,788 (GRCm39)	D851E	probably benign	Het
Klhdc7b	A	G	15: 89,271,472 (GRCm39)	T785A	probably benign	Het
Lmbr1	G	T	5: 29,551,863 (GRCm39)	A74E	probably damaging	Het
Maml2	T	C	9: 13,531,371 (GRCm39)	F195S	probably damaging	Het
Man2b2	G	T	5: 36,974,983 (GRCm39)	T436K	probably benign	Het
Man2c1	T	C	9: 57,049,439 (GRCm39)		probably null	Het
Mrps15	G	A	4: 125,940,837 (GRCm39)		probably benign	Het
Mtrf1l	C	A	10: 5,767,586 (GRCm39)	V177F	probably benign	Het
Naxd	A	T	8: 11,559,489 (GRCm39)	I213F	probably damaging	Het
Nbeal1	T	A	1: 60,267,890 (GRCm39)		probably benign	Het
Nfatc1	T	C	18: 80,741,047 (GRCm39)	I318V	probably damaging	Het
Nid2	T	A	14: 19,858,078 (GRCm39)	I1297N	probably damaging	Het
Nol10	T	C	12: 17,398,562 (GRCm39)	V3A	probably damaging	Het
Nop14	G	T	5: 34,796,562 (GRCm39)	P765Q	probably damaging	Het
Noxa1	C	T	2: 24,981,761 (GRCm39)	G114D	probably damaging	Het
Ntmt2	A	T	1: 163,552,597 (GRCm39)	F10I	probably damaging	Het
Opa1	T	C	16: 29,405,857 (GRCm39)	W141R	probably damaging	Het
Or10a2	G	A	7: 106,673,761 (GRCm39)	C242Y	probably damaging	Het
Or13p4	A	T	4: 118,546,667 (GRCm39)		probably benign	Het
Or5d18	A	G	2: 87,864,898 (GRCm39)	V195A	probably benign	Het
Or8h10	A	G	2: 86,808,618 (GRCm39)	I174T	possibly damaging	Het
Pde4d	A	T	13: 110,070,411 (GRCm39)	M7L	probably benign	Het
Phykpl	G	A	11: 51,483,056 (GRCm39)	A188T	probably damaging	Het
Pkd2l1	C	A	19: 44,142,573 (GRCm39)	A490S	probably damaging	Het
Pkhd1l1	T	A	15: 44,403,078 (GRCm39)	V2260D	probably damaging	Het
Ptprt	T	C	2: 161,395,765 (GRCm39)	E1136G	probably damaging	Het
Rad21	A	T	15: 51,833,420 (GRCm39)	L353Q	probably damaging	Het
Rfx4	G	T	10: 84,716,760 (GRCm39)	A425S	probably benign	Het
Rnf38	A	G	4: 44,142,450 (GRCm39)	S169P	probably damaging	Het
Samd9l	C	A	6: 3,376,347 (GRCm39)	V305F	probably damaging	Het
Serpini1	A	G	3: 75,523,883 (GRCm39)	K164E	probably benign	Het
Sirt6	A	G	10: 81,462,408 (GRCm39)	L37P	probably damaging	Het
Sorbs1	T	C	19: 40,361,962 (GRCm39)	T141A	probably damaging	Het
Tacc2	A	T	7: 130,227,946 (GRCm39)	T1563S	probably benign	Het
Tbc1d14	A	C	5: 36,687,725 (GRCm39)		probably benign	Het
Tbrg4	G	A	11: 6,570,185 (GRCm39)		probably benign	Het
Tox2	T	C	2: 163,162,567 (GRCm39)	L479P	probably damaging	Het
Tpp1	A	T	7: 105,400,913 (GRCm39)	L38Q	probably benign	Het
Trhr	A	G	15: 44,061,037 (GRCm39)	N186D	probably benign	Het
Trmt1l	C	T	1: 151,329,799 (GRCm39)	Q581*	probably null	Het
Tsen54	T	A	11: 115,706,247 (GRCm39)		probably benign	Het
Tsg101	A	G	7: 46,542,257 (GRCm39)	I138T	possibly damaging	Het
Usp22	A	G	11: 61,052,269 (GRCm39)	S237P	probably damaging	Het
Vmn1r209	A	G	13: 22,990,619 (GRCm39)	S24P	possibly damaging	Het
Vmn2r18	A	T	5: 151,508,424 (GRCm39)	H233Q	possibly damaging	Het
Vmn2r45	A	T	7: 8,486,436 (GRCm39)	I284N	probably benign	Het
Vmn2r66	T	C	7: 84,644,296 (GRCm39)	I705V	possibly damaging	Het
Vsig1	G	T	X: 139,827,135 (GRCm39)	A95S	probably benign	Het
Zdhhc11	T	A	13: 74,127,349 (GRCm39)	M242K	probably benign	Het
Zfp352	A	G	4: 90,113,318 (GRCm39)	K486R	probably benign	Het

Other mutations in Lonp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

Predicted Primers

PCR Primer
(F):5'- CTGTACCCCATTGTACCCCAAG -3'
(R):5'- ATAGCAGCCAGTAGTGACATGG -3'

Sequencing Primer
(F):5'- TTGTACCCCAAGACCTCAGGG -3'
(R):5'- CCAGTAGTGACATGGCAAGTCTC -3'

Posted On

2015-09-25