Mutagenetix > Incidental Mutation

Incidental Mutation 'R5622:Lonp1'

441655

Institutional Source

Beutler Lab

Gene Symbol

Lonp1

Ensembl Gene

ENSMUSG00000041168

Gene Name

lon peptidase 1, mitochondrial

Synonyms

1200017E13Rik, Prss15, LON

MMRRC Submission

043161-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5622 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

56921297-56933887 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 56927263 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glycine at position 330 (A330G)

Ref Sequence

ENSEMBL: ENSMUSP00000041814 (fasta)

Gene Model

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

AlphaFold

Q8CGK3

Predicted Effect

probably benign
Transcript: ENSMUST00000047226
AA Change: A330G

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000041814
Gene: ENSMUSG00000041168
AA Change: A330G

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

0.0792

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.2%
20x: 95.2%

Validation Efficiency

97% (69/71)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	T	17: 24,546,642 (GRCm39)	S320T	probably benign	Het
Alg8	T	A	7: 97,036,006 (GRCm39)		probably benign	Het
Anp32b	G	A	4: 46,469,930 (GRCm39)	E202K	unknown	Het
Apcdd1	A	G	18: 63,069,973 (GRCm39)		probably null	Het
Apobec2	A	G	17: 48,730,444 (GRCm39)	V74A	possibly damaging	Het
Arid3c	A	T	4: 41,729,959 (GRCm39)	C79S	probably benign	Het
Atp1a2	A	T	1: 172,118,994 (GRCm39)		probably benign	Het
B2m	A	T	2: 121,981,471 (GRCm39)	N62I	probably damaging	Het
Borcs5	T	C	6: 134,663,086 (GRCm39)		probably null	Het
Ccn1	A	G	3: 145,355,075 (GRCm39)	L60P	probably damaging	Het
Cdk11b	A	G	4: 155,714,674 (GRCm39)	K127E	probably damaging	Het
Cep170	T	C	1: 176,563,433 (GRCm39)	H726R	possibly damaging	Het
Col5a2	A	C	1: 45,466,219 (GRCm39)	S190A	probably benign	Het
Cryba4	T	C	5: 112,398,990 (GRCm39)	D5G	probably damaging	Het
Cyp2a5	T	G	7: 26,535,299 (GRCm39)	V87G	probably damaging	Het
Dcaf8	A	G	1: 172,013,965 (GRCm39)		probably benign	Het
Dchs1	A	G	7: 105,404,500 (GRCm39)	S2681P	probably benign	Het
Ddx20	A	G	3: 105,586,327 (GRCm39)	S673P	probably damaging	Het
Deptor	T	A	15: 55,044,428 (GRCm39)	I198N	probably damaging	Het
Ebf2	T	C	14: 67,628,007 (GRCm39)	I334T	possibly damaging	Het
F5	A	G	1: 164,020,134 (GRCm39)	R870G	probably benign	Het
Flg2	A	C	3: 93,109,871 (GRCm39)	H633P	unknown	Het
Gm11938	T	A	11: 99,494,119 (GRCm39)		probably null	Het
Gm6370	A	G	5: 146,430,708 (GRCm39)	T298A	probably benign	Het
H60b	C	A	10: 22,159,441 (GRCm39)		probably benign	Het
Hsbp1	A	G	8: 120,071,324 (GRCm39)	T4A	possibly damaging	Het
Hsd3b3	A	T	3: 98,649,524 (GRCm39)	D266E	possibly damaging	Het
Ift172	T	C	5: 31,440,426 (GRCm39)	Y287C	probably damaging	Het
Il20rb	T	A	9: 100,368,371 (GRCm39)	Q4L	probably benign	Het
Krt5	T	C	15: 101,617,470 (GRCm39)	D421G	probably damaging	Het
Me3	A	G	7: 89,445,871 (GRCm39)	D196G	probably damaging	Het
Mfsd12	T	A	10: 81,199,461 (GRCm39)	V451E	probably null	Het
Mib1	A	G	18: 10,794,503 (GRCm39)	N663S	possibly damaging	Het
Mtus2	A	T	5: 148,015,244 (GRCm39)	N679I	probably benign	Het
Myt1	A	G	2: 181,438,915 (GRCm39)	T146A	probably benign	Het
Neb	T	A	2: 52,160,281 (GRCm39)	H2244L	probably damaging	Het
Or51l4	T	C	7: 103,404,376 (GRCm39)	T139A	probably damaging	Het
Or5b21	A	C	19: 12,839,663 (GRCm39)	I175L	probably benign	Het
Or5p81	C	T	7: 108,267,289 (GRCm39)	T222I	probably benign	Het
Pabpc4	A	G	4: 123,185,524 (GRCm39)		probably null	Het
Padi1	C	A	4: 140,552,266 (GRCm39)	V393L	probably damaging	Het
Pax2	A	T	19: 44,806,905 (GRCm39)	D300V	probably damaging	Het
Pcgf2	T	C	11: 97,581,078 (GRCm39)	E71G	probably damaging	Het
Pi4kb	A	G	3: 94,906,172 (GRCm39)	Q573R	possibly damaging	Het
Pitpna	T	A	11: 75,511,153 (GRCm39)	M242K	possibly damaging	Het
Pkd1	A	G	17: 24,793,014 (GRCm39)	E1567G	possibly damaging	Het
Plcb2	A	T	2: 118,545,210 (GRCm39)	S630R	probably damaging	Het
Prrt2	A	T	7: 126,618,937 (GRCm39)	V176D	probably benign	Het
Prss1l	A	C	6: 41,373,084 (GRCm39)	N119H	probably damaging	Het
Prss42	T	C	9: 110,628,490 (GRCm39)		probably null	Het
Rhoq	A	G	17: 87,304,459 (GRCm39)	R197G	probably benign	Het
Rin2	A	T	2: 145,702,299 (GRCm39)	T332S	probably benign	Het
Rnps1-ps	C	T	6: 7,982,605 (GRCm39)		noncoding transcript	Het
Rp1	A	T	1: 4,418,060 (GRCm39)	N1017K	possibly damaging	Het
Setbp1	T	A	18: 78,900,700 (GRCm39)	Y989F	probably damaging	Het
Slc11a1	G	A	1: 74,420,065 (GRCm39)	G191D	probably damaging	Het
Slc35f5	G	A	1: 125,517,693 (GRCm39)	R497Q	probably damaging	Het
Slf1	T	C	13: 77,198,090 (GRCm39)	K728R	probably benign	Het
Tiparp	T	G	3: 65,454,946 (GRCm39)	S364A	probably benign	Het
Tph1	G	A	7: 46,296,969 (GRCm39)	Q409*	probably null	Het
Trp73	A	T	4: 154,145,049 (GRCm39)	I526N	possibly damaging	Het
Ttc9c	G	A	19: 8,793,332 (GRCm39)	R103*	probably null	Het
Vmn2r75	T	A	7: 85,797,702 (GRCm39)	I704F	probably benign	Het
Wdr76	A	G	2: 121,348,216 (GRCm39)	R63G	probably damaging	Het
Zc3h3	T	A	15: 75,648,928 (GRCm39)	S735C	probably damaging	Het
Zfp383	G	A	7: 29,611,615 (GRCm39)	V32M	probably damaging	Het
Zfp810	T	A	9: 22,190,392 (GRCm39)	Y172F	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
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
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'- TCTTCAAGAGAGACAGGGCC -3'
(R):5'- GAGCTATCTATCACTGAAGCCAG -3'

Sequencing Primer
(F):5'- GCCTTATAGAGCCGCTTAAGGATC -3'
(R):5'- CTATCACTGAAGCCAGAGTATGTG -3'

Posted On

2016-11-08