Mutagenetix > Incidental Mutation

Incidental Mutation 'R9257:Lonp1'

701979

Institutional Source

Beutler Lab

Gene Symbol

Lonp1

Ensembl Gene

ENSMUSG00000041168

Gene Name

lon peptidase 1, mitochondrial

Synonyms

1200017E13Rik, Prss15, LON

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9257 (G1)

Quality Score

142.008

Status

Not validated

Chromosome

Chromosomal Location

56921297-56933887 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 56927516 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 299 (Y299*)

Ref Sequence

ENSEMBL: ENSMUSP00000041814 (fasta)

Gene Model

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

AlphaFold

Q8CGK3

Predicted Effect

probably null
Transcript: ENSMUST00000047226
AA Change: Y299*

SMART Domains

Protein: ENSMUSP00000041814
Gene: ENSMUSG00000041168
AA Change: Y299*

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 97.9%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	T	A	2: 151,315,627 (GRCm39)	D17V	probably benign	Het
9130401M01Rik	A	C	15: 57,892,414 (GRCm39)	H128Q	possibly damaging	Het
Abcd2	T	C	15: 91,075,315 (GRCm39)	Y166C	possibly damaging	Het
Adamtsl4	C	A	3: 95,588,575 (GRCm39)	V546F	probably damaging	Het
Als2cl	T	A	9: 110,723,755 (GRCm39)	V717E	probably damaging	Het
Atm	A	G	9: 53,407,150 (GRCm39)		probably null	Het
Atp2c1	C	A	9: 105,291,851 (GRCm39)	E904*	probably null	Het
Ccdc88c	G	A	12: 100,889,474 (GRCm39)	S1523F	possibly damaging	Het
Cds1	A	T	5: 101,963,751 (GRCm39)	I357F	probably benign	Het
Cilp	T	A	9: 65,174,451 (GRCm39)	V13D	possibly damaging	Het
Copz2	A	G	11: 96,748,386 (GRCm39)	D180G	possibly damaging	Het
Cpsf1	C	T	15: 76,484,992 (GRCm39)	E546K	probably benign	Het
Ctsm	T	C	13: 61,684,413 (GRCm39)	N320D	probably damaging	Het
Fat3	G	A	9: 15,907,863 (GRCm39)	T2713I	probably benign	Het
Fcrl5	T	A	3: 87,343,195 (GRCm39)	S2T	probably benign	Het
Fgfr4	T	C	13: 55,315,974 (GRCm39)	S796P	unknown	Het
Flrt3	A	G	2: 140,502,159 (GRCm39)	F490L	probably benign	Het
Fras1	A	T	5: 96,910,359 (GRCm39)	I3263F	probably damaging	Het
Hydin	A	T	8: 111,301,648 (GRCm39)	D3793V	probably damaging	Het
Kif5c	T	A	2: 49,590,604 (GRCm39)	L269*	probably null	Het
Klhl32	A	G	4: 24,649,608 (GRCm39)	V396A	probably benign	Het
Krt1c	C	T	15: 101,724,926 (GRCm39)	R228Q	probably benign	Het
Lcn9	T	C	2: 25,714,784 (GRCm39)		probably null	Het
Lingo4	A	C	3: 94,310,676 (GRCm39)	D538A	probably benign	Het
Mettl16	T	A	11: 74,708,127 (GRCm39)	V442D	possibly damaging	Het
Mettl25b	G	T	3: 87,831,768 (GRCm39)	Q397K	probably benign	Het
Mis18bp1	A	G	12: 65,180,631 (GRCm39)	V950A	probably benign	Het
Mndal	A	T	1: 173,690,274 (GRCm39)	V352E	probably damaging	Het
Mrpl55	T	C	11: 59,096,578 (GRCm39)	V117A	probably benign	Het
Muc6	T	A	7: 141,226,738 (GRCm39)	S1430C	unknown	Het
Myh11	C	A	16: 14,087,120 (GRCm39)	G119C		Het
Myorg	T	C	4: 41,499,030 (GRCm39)	D200G	probably benign	Het
Neu1	A	G	17: 35,150,396 (GRCm39)	D5G	probably benign	Het
Nrcam	T	A	12: 44,610,837 (GRCm39)	D512E	probably benign	Het
Nup214	T	G	2: 31,923,347 (GRCm39)	V1292G	possibly damaging	Het
Nwd1	T	A	8: 73,397,566 (GRCm39)	L602M	probably damaging	Het
Or6c3b	C	A	10: 129,527,003 (GRCm39)	L302F	probably benign	Het
Pck2	G	T	14: 55,782,702 (GRCm39)	G379W	probably damaging	Het
Per2	C	T	1: 91,376,445 (GRCm39)	V143M	probably damaging	Het
Pfkl	A	T	10: 77,825,489 (GRCm39)	Y634N	probably damaging	Het
Phlpp1	A	G	1: 106,100,281 (GRCm39)	D183G	possibly damaging	Het
Pkdrej	T	A	15: 85,700,098 (GRCm39)	Y1946F	probably damaging	Het
Plxna4	C	T	6: 32,139,018 (GRCm39)	D1717N	probably damaging	Het
Ppp1r14bl	G	T	1: 23,141,275 (GRCm39)	T13N	probably benign	Het
Pramel23	T	A	4: 143,425,685 (GRCm39)	D86V	probably damaging	Het
Prdm16	A	T	4: 154,422,155 (GRCm39)	V879E	probably damaging	Het
Prr23a3	T	C	9: 98,747,298 (GRCm39)	V84A	probably benign	Het
Ptp4a1	A	G	1: 30,985,346 (GRCm39)		probably benign	Het
Rhbdf1	T	C	11: 32,160,754 (GRCm39)	H634R	probably benign	Het
Rmi2	T	C	16: 10,653,089 (GRCm39)	S46P	probably benign	Het
Rsf1	A	T	7: 97,334,918 (GRCm39)	E1350D		Het
Slc6a6	T	A	6: 91,716,952 (GRCm39)	F276Y	possibly damaging	Het
Sppl3	A	G	5: 115,221,532 (GRCm39)	Y120C	probably benign	Het
Stard13	G	T	5: 150,985,956 (GRCm39)	A518E	probably benign	Het
Taf2	A	T	15: 54,929,409 (GRCm39)	V49E	possibly damaging	Het
Tas2r140	T	A	6: 40,468,592 (GRCm39)	W141R	probably damaging	Het
Tlx2	T	A	6: 83,047,035 (GRCm39)	H9L	unknown	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Tmem132d	G	A	5: 127,861,491 (GRCm39)	Q877*	probably null	Het
Unc5d	A	T	8: 29,215,174 (GRCm39)		probably null	Het
Upp1	A	T	11: 9,075,661 (GRCm39)	T4S	probably benign	Het
Uros	A	T	7: 133,292,853 (GRCm39)	I146N	probably damaging	Het
Vsig10	A	T	5: 117,463,131 (GRCm39)	D119V	probably benign	Het
Washc2	C	A	6: 116,193,069 (GRCm39)	Y138*	probably null	Het
Ywhah	T	A	5: 33,184,095 (GRCm39)	D99E	probably benign	Het
Zdbf2	G	A	1: 63,345,400 (GRCm39)	G1260R	probably damaging	Het
Zfp663	T	C	2: 165,195,974 (GRCm39)	T82A	probably benign	Het
Zfp831	T	A	2: 174,488,156 (GRCm39)	C944S	possibly damaging	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
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
R9586:Lonp1	UTSW	17	56,924,839 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATCATCTGCAGCACGGACTC -3'
(R):5'- AGGAGTGCTGGCTTATGTCC -3'

Sequencing Primer
(F):5'- TGCAGCACGGACTCTCTGTAG -3'
(R):5'- TTGAACTCAGGTCATCAGGC -3'

Posted On

2022-03-25