Incidental Mutation 'R7052:Lonp1'
| ID |
547686 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lonp1
|
| Ensembl Gene |
ENSMUSG00000041168 |
| Gene Name |
lon peptidase 1, mitochondrial |
| Synonyms |
1200017E13Rik, Prss15, LON |
| MMRRC Submission |
045149-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7052 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
56921297-56933887 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 56933549 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 109
(F109I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041814
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047226]
[ENSMUST00000112979]
|
| AlphaFold |
Q8CGK3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047226
AA Change: F109I
PolyPhen 2
Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000041814
Gene: ENSMUSG00000041168
AA Change: F109I
| 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: ENSMUST00000112979
|
| SMART Domains |
Protein: ENSMUSP00000108603
Gene: ENSMUSG00000040828
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
Pfam:CATSPERD
|
38 |
766 |
N/A |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (63/63) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
C |
T |
6: 142,604,261 (GRCm39) |
R658H |
probably benign |
Het |
| Als2cl |
C |
T |
9: 110,727,151 (GRCm39) |
R906C |
probably damaging |
Het |
| Asb8 |
T |
C |
15: 98,034,282 (GRCm39) |
H91R |
probably damaging |
Het |
| Atp8b3 |
C |
T |
10: 80,355,858 (GRCm39) |
E1285K |
probably benign |
Het |
| Bves |
G |
A |
10: 45,222,386 (GRCm39) |
R172H |
possibly damaging |
Het |
| C6 |
A |
T |
15: 4,763,177 (GRCm39) |
N59I |
probably damaging |
Het |
| Capn15 |
A |
T |
17: 26,180,724 (GRCm39) |
V782D |
probably damaging |
Het |
| Ccdc168 |
T |
A |
1: 44,096,466 (GRCm39) |
Y1544F |
possibly damaging |
Het |
| Ccdc18 |
T |
C |
5: 108,309,554 (GRCm39) |
L383S |
probably benign |
Het |
| Coro6 |
C |
A |
11: 77,357,056 (GRCm39) |
N119K |
probably benign |
Het |
| Cps1 |
T |
A |
1: 67,237,569 (GRCm39) |
D1023E |
probably damaging |
Het |
| Dctn1 |
T |
A |
6: 83,172,262 (GRCm39) |
|
probably null |
Het |
| Ero1a |
T |
A |
14: 45,544,040 (GRCm39) |
K55* |
probably null |
Het |
| Fam209 |
G |
A |
2: 172,314,751 (GRCm39) |
G80D |
possibly damaging |
Het |
| Fam89b |
G |
A |
19: 5,779,276 (GRCm39) |
R94C |
probably damaging |
Het |
| Fut1 |
A |
G |
7: 45,269,181 (GRCm39) |
*323W |
probably null |
Het |
| Garin2 |
C |
T |
12: 78,766,176 (GRCm39) |
T315I |
probably benign |
Het |
| Gm47985 |
T |
A |
1: 151,058,890 (GRCm39) |
F177Y |
possibly damaging |
Het |
| Gstm7 |
T |
A |
3: 107,838,633 (GRCm39) |
D37V |
probably damaging |
Het |
| H2-Aa |
T |
A |
17: 34,503,484 (GRCm39) |
S38C |
possibly damaging |
Het |
| Ighg2c |
T |
C |
12: 113,252,343 (GRCm39) |
T70A |
|
Het |
| Ino80 |
A |
G |
2: 119,257,068 (GRCm39) |
|
probably null |
Het |
| Irf8 |
C |
T |
8: 121,466,581 (GRCm39) |
R9W |
probably damaging |
Het |
| Kcnt2 |
A |
G |
1: 140,310,785 (GRCm39) |
N197S |
probably damaging |
Het |
| Kif11 |
T |
A |
19: 37,373,040 (GRCm39) |
C86* |
probably null |
Het |
| Mlkl |
G |
A |
8: 112,046,074 (GRCm39) |
S312L |
possibly damaging |
Het |
| Mroh9 |
T |
A |
1: 162,866,525 (GRCm39) |
Q706L |
possibly damaging |
Het |
| Mtmr7 |
T |
C |
8: 41,008,874 (GRCm39) |
H315R |
possibly damaging |
Het |
| Myh7b |
G |
C |
2: 155,456,053 (GRCm39) |
R146P |
probably damaging |
Het |
| Naip5 |
A |
G |
13: 100,358,855 (GRCm39) |
Y794H |
probably benign |
Het |
| Nup153 |
A |
T |
13: 46,840,949 (GRCm39) |
N886K |
probably benign |
Het |
| Nup205 |
A |
G |
6: 35,192,077 (GRCm39) |
R1047G |
possibly damaging |
Het |
| Oog3 |
A |
T |
4: 143,887,027 (GRCm39) |
L31Q |
probably damaging |
Het |
| Or5b123 |
T |
A |
19: 13,596,990 (GRCm39) |
S155T |
probably benign |
Het |
| Or6c38 |
T |
C |
10: 128,929,744 (GRCm39) |
Y33C |
probably damaging |
Het |
| Palmd |
T |
C |
3: 116,717,012 (GRCm39) |
N495S |
probably benign |
Het |
| Patj |
A |
G |
4: 98,565,497 (GRCm39) |
Q1070R |
probably benign |
Het |
| Pax1 |
G |
A |
2: 147,207,824 (GRCm39) |
R232H |
probably damaging |
Het |
| Pcdhb1 |
A |
G |
18: 37,399,582 (GRCm39) |
N511S |
probably damaging |
Het |
| Pigs |
C |
T |
11: 78,232,211 (GRCm39) |
L448F |
probably damaging |
Het |
| Pih1d2 |
A |
G |
9: 50,533,077 (GRCm39) |
Y235C |
probably damaging |
Het |
| Pkd2l2 |
T |
A |
18: 34,558,212 (GRCm39) |
I297K |
possibly damaging |
Het |
| Pou2f1 |
C |
T |
1: 165,742,684 (GRCm39) |
V82I |
possibly damaging |
Het |
| Pramel1 |
T |
C |
4: 143,123,074 (GRCm39) |
L17P |
probably damaging |
Het |
| Riok1 |
C |
T |
13: 38,220,991 (GRCm39) |
|
probably benign |
Het |
| Scg3 |
C |
A |
9: 75,568,664 (GRCm39) |
E358* |
probably null |
Het |
| Siglec15 |
T |
C |
18: 78,091,946 (GRCm39) |
E85G |
probably damaging |
Het |
| Snx20 |
T |
C |
8: 89,356,606 (GRCm39) |
H70R |
probably benign |
Het |
| Spi1 |
T |
A |
2: 90,943,685 (GRCm39) |
S76R |
probably damaging |
Het |
| Stat5a |
T |
C |
11: 100,770,111 (GRCm39) |
S463P |
probably damaging |
Het |
| Svs5 |
A |
G |
2: 164,080,126 (GRCm39) |
I13T |
unknown |
Het |
| Tmem132e |
T |
C |
11: 82,328,189 (GRCm39) |
S406P |
probably damaging |
Het |
| Top1mt |
T |
C |
15: 75,540,560 (GRCm39) |
N237S |
possibly damaging |
Het |
| Trav6d-4 |
G |
A |
14: 52,991,053 (GRCm39) |
V30M |
possibly damaging |
Het |
| Trp73 |
A |
T |
4: 154,149,140 (GRCm39) |
M217K |
probably damaging |
Het |
| Vmn1r58 |
A |
G |
7: 5,414,134 (GRCm39) |
I32T |
probably benign |
Het |
| Vmn1r9 |
T |
C |
6: 57,048,396 (GRCm39) |
M157T |
probably benign |
Het |
| Vmn2r100 |
C |
T |
17: 19,751,556 (GRCm39) |
S533F |
possibly damaging |
Het |
| Vmn2r112 |
T |
A |
17: 22,821,507 (GRCm39) |
M160K |
probably benign |
Het |
| Vps13d |
C |
A |
4: 144,889,914 (GRCm39) |
A597S |
probably benign |
Het |
| Zfp27 |
AATCCGCTTGTGCA |
AA |
7: 29,594,446 (GRCm39) |
|
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 |
|
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 |
|
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'- ATCCTCTTGCCTCAGAGTGG -3'
(R):5'- AGAACATCCTTCATCGGGCC -3'
Sequencing Primer
(F):5'- CTCAGAGTGGTGCGATGAC -3'
(R):5'- TGCGACATGTCAGCTCCCTG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation