Mutagenetix > Incidental Mutation

Incidental Mutation 'R6377:Lonp1'

515082

Institutional Source

Beutler Lab

Gene Symbol

Lonp1

Ensembl Gene

ENSMUSG00000041168

Gene Name

lon peptidase 1, mitochondrial

Synonyms

1200017E13Rik, Prss15, LON

MMRRC Submission

044527-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6377 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

56921297-56933887 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56928961 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 267 (V267A)

Ref Sequence

ENSEMBL: ENSMUSP00000041814 (fasta)

Gene Model

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

AlphaFold

Q8CGK3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047226
AA Change: V267A

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000041814
Gene: ENSMUSG00000041168
AA Change: V267A

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

0.4568

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.8%

Validation Efficiency

94% (59/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankib1	A	G	5: 3,743,855 (GRCm39)	S812P	possibly damaging	Het
Atp2c2	A	G	8: 120,453,093 (GRCm39)	E159G	probably benign	Het
Atrn	A	G	2: 130,821,889 (GRCm39)	I861V	probably damaging	Het
Clip1	A	G	5: 123,741,717 (GRCm39)	V1053A	possibly damaging	Het
Cngb1	C	A	8: 95,975,608 (GRCm39)	G629C	probably damaging	Het
Cntn5	A	T	9: 9,743,657 (GRCm39)	F540Y	probably damaging	Het
Cpb1	A	C	3: 20,329,748 (GRCm39)		probably null	Het
Cyp4a14	A	G	4: 115,353,280 (GRCm39)	Y11H	probably benign	Het
Dact2	A	G	17: 14,419,450 (GRCm39)	S103P	probably damaging	Het
Dcstamp	A	T	15: 39,618,317 (GRCm39)	Y242F	probably benign	Het
Drd3	G	T	16: 43,641,670 (GRCm39)	G329*	probably null	Het
Duxf1	T	C	10: 58,059,494 (GRCm39)		probably benign	Het
Dysf	T	A	6: 83,985,945 (GRCm39)	S17T	probably benign	Het
Eno1	A	T	4: 150,333,009 (GRCm39)	K366N	possibly damaging	Het
Ffar2	C	T	7: 30,518,971 (GRCm39)	V190I	probably benign	Het
Fkbp15	T	C	4: 62,242,429 (GRCm39)	T508A	probably damaging	Het
Fndc1	A	G	17: 7,988,567 (GRCm39)	V1165A	unknown	Het
Foxj3	A	T	4: 119,430,945 (GRCm39)		probably null	Het
Gabarap	T	C	11: 69,882,630 (GRCm39)		probably null	Het
Gm19410	T	A	8: 36,270,736 (GRCm39)	L1221*	probably null	Het
Gpat2	G	C	2: 127,273,838 (GRCm39)	G294R	possibly damaging	Het
Igf1r	A	T	7: 67,850,998 (GRCm39)	Y931F	probably benign	Het
Il23r	A	T	6: 67,400,636 (GRCm39)	S565T	probably damaging	Het
Ipo8	A	T	6: 148,717,995 (GRCm39)	Y209*	probably null	Het
Jph2	C	T	2: 163,181,632 (GRCm39)	G511R	probably benign	Het
Khdrbs1	C	A	4: 129,635,890 (GRCm39)	D22Y	probably damaging	Het
Kif5b	A	T	18: 6,212,562 (GRCm39)	L754Q	probably damaging	Het
Ksr1	C	T	11: 78,927,320 (GRCm39)		probably null	Het
L3mbtl4	G	T	17: 69,084,918 (GRCm39)	V610F	probably benign	Het
Lars2	A	G	9: 123,283,825 (GRCm39)	T698A	probably benign	Het
Loxhd1	T	A	18: 77,468,128 (GRCm39)	D925E	probably damaging	Het
Lsg1	A	G	16: 30,393,386 (GRCm39)	L187P	possibly damaging	Het
Mki67	A	T	7: 135,298,050 (GRCm39)	V2328E	possibly damaging	Het
Mlh3	A	G	12: 85,315,271 (GRCm39)	I305T	probably damaging	Het
Mtbp	A	G	15: 55,421,016 (GRCm39)	M1V	probably null	Het
Myadml2	C	A	11: 120,538,538 (GRCm39)	C99F	probably benign	Het
Ncbp1	A	G	4: 46,150,703 (GRCm39)	Y185C	probably damaging	Het
Ndufaf7	A	T	17: 79,250,739 (GRCm39)	Q222L	probably null	Het
Nlrp4b	A	T	7: 10,449,339 (GRCm39)	Y147F	probably benign	Het
Or4c11c	C	T	2: 88,661,613 (GRCm39)	R51*	probably null	Het
Pet100	T	C	8: 3,672,370 (GRCm39)	V15A	probably benign	Het
Pot1a	A	G	6: 25,778,869 (GRCm39)	V75A	probably benign	Het
Ptprs	A	T	17: 56,725,935 (GRCm39)	M1043K	probably damaging	Het
Rnf31	A	G	14: 55,832,984 (GRCm39)	T413A	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Homo
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Het
Rubcnl	A	T	14: 75,287,635 (GRCm39)		probably null	Het
Ryr3	A	T	2: 112,462,530 (GRCm39)	C4839S	probably damaging	Het
Scai	A	C	2: 38,992,340 (GRCm39)	D379E	probably benign	Het
Scd2	G	T	19: 44,288,198 (GRCm39)	G197*	probably null	Het
Sdr39u1	A	C	14: 56,135,166 (GRCm39)	I259S	probably benign	Het
Slco1a5	A	T	6: 142,187,906 (GRCm39)		probably null	Het
Sp1	A	T	15: 102,339,318 (GRCm39)	T733S	probably benign	Het
Tecta	A	G	9: 42,255,051 (GRCm39)	S1711P	probably damaging	Het
Tedc1	G	T	12: 113,124,975 (GRCm39)	W240L	probably damaging	Het
Trarg1	T	C	11: 76,571,355 (GRCm39)	S124P	probably damaging	Het
Trim50	A	G	5: 135,382,454 (GRCm39)	K102R	probably benign	Het
Utrn	A	G	10: 12,619,827 (GRCm39)	Y278H	probably damaging	Het
Vinac1	T	A	2: 128,878,731 (GRCm39)	D1065V	unknown	Het
Vmn2r109	A	C	17: 20,784,796 (GRCm39)		probably null	Het
Zbed5	T	C	5: 129,932,210 (GRCm39)	S720P	possibly damaging	Het
Zc3h3	A	G	15: 75,711,304 (GRCm39)	S386P	probably damaging	Het
Zscan4-ps1	C	T	7: 10,802,418 (GRCm39)		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
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
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'- ATGGTGGCCATGAACCAGAG -3'
(R):5'- TGTCTGTCTGCAGGATTCACATC -3'

Sequencing Primer
(F):5'- ACCAGAGTGGGATGGGTTTGAATC -3'
(R):5'- TCTGCAGGATTCACATCAGCCG -3'

Posted On

2018-05-04