Mutagenetix > Incidental Mutation

Incidental Mutation 'R1735:Lonp1'

199684

Institutional Source

Beutler Lab

Gene Symbol

Lonp1

Ensembl Gene

ENSMUSG00000041168

Gene Name

lon peptidase 1, mitochondrial

Synonyms

1200017E13Rik, Prss15, LON

MMRRC Submission

039767-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1735 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56921297-56933887 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 56921956 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 808 (T808I)

Ref Sequence

ENSEMBL: ENSMUSP00000041814 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047226] [ENSMUST00000080492]

AlphaFold

Q8CGK3

Predicted Effect

probably damaging
Transcript: ENSMUST00000047226
AA Change: T808I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000041814
Gene: ENSMUSG00000041168
AA Change: T808I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000080492

SMART Domains

Protein: ENSMUSP00000079340
Gene: ENSMUSG00000057863

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L36e	2	100	2.4e-51	PFAM

Coding Region Coverage

1x: 97.6%
3x: 97.0%
10x: 95.3%
20x: 92.1%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot5	A	T	12: 84,122,261 (GRCm39)	I282F	probably benign	Het
Adam19	C	A	11: 46,029,744 (GRCm39)	Q730K	probably benign	Het
Adgrv1	A	G	13: 81,636,066 (GRCm39)	V3481A	possibly damaging	Het
Akr1c20	T	C	13: 4,537,207 (GRCm39)	D316G	probably benign	Het
Ap3b1	G	A	13: 94,630,225 (GRCm39)	V827I	unknown	Het
Aph1a	T	A	3: 95,802,821 (GRCm39)	D140E	probably damaging	Het
Arhgef19	G	T	4: 140,976,929 (GRCm39)	V502L	possibly damaging	Het
Arl9	T	C	5: 77,154,473 (GRCm39)	F67S	probably damaging	Het
B430305J03Rik	G	A	3: 61,271,361 (GRCm39)		probably benign	Het
B4galnt2	A	G	11: 95,781,809 (GRCm39)	F119L	probably damaging	Het
Bcap29	T	A	12: 31,680,839 (GRCm39)	N49I	probably damaging	Het
Capn11	T	A	17: 45,943,327 (GRCm39)	K616*	probably null	Het
Cdh12	T	A	15: 21,520,452 (GRCm39)	Y306N	probably damaging	Het
Cep350	T	A	1: 155,828,960 (GRCm39)	N315Y	probably damaging	Het
Cfap300	A	C	9: 8,027,266 (GRCm39)	S91A	probably benign	Het
Cited2	C	A	10: 17,599,794 (GRCm39)	P34Q	probably damaging	Het
Cmya5	A	T	13: 93,226,297 (GRCm39)	D2930E	probably benign	Het
Cog3	T	A	14: 75,966,761 (GRCm39)	K470*	probably null	Het
Commd10	A	G	18: 47,123,552 (GRCm39)	T136A	probably benign	Het
Csf2ra	C	A	19: 61,214,782 (GRCm39)	D181Y	probably damaging	Het
Csmd1	T	A	8: 15,982,610 (GRCm39)	I2686F	probably damaging	Het
Dhx29	T	C	13: 113,081,620 (GRCm39)	S415P	probably benign	Het
Dsel	A	T	1: 111,788,645 (GRCm39)	F630Y	probably damaging	Het
Ell	T	A	8: 71,031,590 (GRCm39)	I96N	possibly damaging	Het
Ephx2	T	A	14: 66,325,752 (GRCm39)	I358L	probably benign	Het
Fam162b	A	G	10: 51,463,307 (GRCm39)	I120T	probably damaging	Het
Fam187a	T	C	11: 102,776,606 (GRCm39)	Y137H	probably damaging	Het
Fastk	T	C	5: 24,646,801 (GRCm39)	E403G	probably damaging	Het
Fcrlb	C	A	1: 170,734,901 (GRCm39)	V409F	probably benign	Het
Flot2	G	T	11: 77,948,831 (GRCm39)	A269S	probably benign	Het
Gpd2	T	A	2: 57,245,563 (GRCm39)	N419K	probably damaging	Het
Hecw1	A	T	13: 14,552,350 (GRCm39)	M61K	probably null	Het
Htr2a	T	C	14: 74,943,568 (GRCm39)	F383L	probably damaging	Het
Kctd6	C	T	14: 8,222,253 (GRCm38)	R32C	probably damaging	Het
Khdc1a	A	G	1: 21,421,189 (GRCm39)	T125A	probably benign	Het
Klhl40	T	C	9: 121,609,004 (GRCm39)	S390P	probably benign	Het
Loxhd1	A	C	18: 77,492,585 (GRCm39)	D1342A	probably damaging	Het
Lrat	T	C	3: 82,804,417 (GRCm39)	I187V	probably benign	Het
Lrif1	T	C	3: 106,643,162 (GRCm39)	*238Q	probably null	Het
Lrp2bp	T	C	8: 46,465,025 (GRCm39)	F48S	probably benign	Het
Mafg	A	G	11: 120,520,504 (GRCm39)	M32T	possibly damaging	Het
Map4	C	T	9: 109,864,023 (GRCm39)	T416I	probably benign	Het
N4bp2	T	C	5: 65,965,659 (GRCm39)	F1236S	probably damaging	Het
Nfatc3	A	G	8: 106,810,466 (GRCm39)	D414G	probably damaging	Het
Nhsl3	G	T	4: 129,117,370 (GRCm39)	S476R	probably damaging	Het
Nrip2	T	G	6: 128,382,037 (GRCm39)	V50G	probably damaging	Het
Or10aa3	A	T	1: 173,878,365 (GRCm39)	K142I	probably benign	Het
Or10j5	A	G	1: 172,784,374 (GRCm39)	N4S	probably benign	Het
Or52ae7	T	A	7: 103,119,353 (GRCm39)	F36I	possibly damaging	Het
Or5b24	T	A	19: 12,912,207 (GRCm39)	I35N	probably damaging	Het
Pcdhb18	A	T	18: 37,623,822 (GRCm39)	H384L	probably benign	Het
Pik3r1	A	T	13: 101,822,882 (GRCm39)	Y607N	probably damaging	Het
Plagl2	G	A	2: 153,074,397 (GRCm39)	T168I	probably damaging	Het
Polr2a	A	G	11: 69,633,222 (GRCm39)	S912P	probably damaging	Het
Ppp1r16b	A	G	2: 158,603,415 (GRCm39)	K447E	possibly damaging	Het
Prkd1	T	C	12: 50,388,822 (GRCm39)	E907G	possibly damaging	Het
Rabep2	A	G	7: 126,043,712 (GRCm39)	R470G	probably damaging	Het
Rasal2	T	C	1: 157,001,730 (GRCm39)	Y518C	probably damaging	Het
Rbmxl1	A	G	8: 79,232,711 (GRCm39)	Y211H	probably damaging	Het
Rdh7	T	C	10: 127,720,454 (GRCm39)	Y306C	probably benign	Het
Rtn3	T	C	19: 7,435,276 (GRCm39)	I220V	probably damaging	Het
Scn8a	A	G	15: 100,913,742 (GRCm39)	N1045D	possibly damaging	Het
Scube1	T	C	15: 83,491,638 (GRCm39)	H952R	probably damaging	Het
Sf3b1	A	G	1: 55,039,811 (GRCm39)	I690T	probably damaging	Het
Sharpin	T	C	15: 76,232,136 (GRCm39)	K240R	probably benign	Het
Skint5	A	G	4: 113,420,656 (GRCm39)	I1108T	unknown	Het
Snip1	A	G	4: 124,964,994 (GRCm39)	D133G	probably benign	Het
St3gal3	T	C	4: 117,871,971 (GRCm39)	Y77C	probably damaging	Het
Sytl3	T	C	17: 6,982,880 (GRCm39)	V112A	probably benign	Het
Tnxb	C	T	17: 34,936,944 (GRCm39)	P3718S	probably damaging	Het
Ttc24	A	T	3: 87,980,401 (GRCm39)		probably null	Het
Ubr3	A	T	2: 69,839,473 (GRCm39)	E1529V	probably damaging	Het
Utrn	T	A	10: 12,585,882 (GRCm39)	H965L	probably benign	Het
Xrn2	T	A	2: 146,903,343 (GRCm39)	L781Q	probably damaging	Het
Zbtb11	T	C	16: 55,811,045 (GRCm39)	I401T	probably benign	Het
Zc3h14	C	T	12: 98,724,839 (GRCm39)	P167L	probably damaging	Het
Zfp609	G	T	9: 65,610,374 (GRCm39)	S863*	probably null	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
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
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'- GCAGTGCAGTGACAATAGTACAGCC -3'
(R):5'- TGAGCATAGCACCCACATCTTTCTG -3'

Sequencing Primer
(F):5'- AATAGTACAGCCTGCGCTGG -3'
(R):5'- CTACCAGTGCTATGGAGTCTTCAAG -3'

Posted On

2014-05-23