Incidental Mutation 'IGL02526:Lonrf2'
| ID |
297090 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lonrf2
|
| Ensembl Gene |
ENSMUSG00000048814 |
| Gene Name |
LON peptidase N-terminal domain and ring finger 2 |
| Synonyms |
2900060P06Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
IGL02526
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
38832750-38875768 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 38839791 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 435
(M435L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117600
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039612]
[ENSMUST00000147695]
|
| AlphaFold |
F6ZE64 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039612
AA Change: M435L
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000047372
Gene: ENSMUSG00000048814
AA Change: M435L
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:TPR
|
22 |
55 |
2e-14 |
BLAST |
|
low complexity region
|
72 |
87 |
N/A |
INTRINSIC |
|
RING
|
213 |
250 |
1.54e-5 |
SMART |
|
Pfam:LON
|
301 |
498 |
4.1e-29 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147695
AA Change: M435L
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000117600
Gene: ENSMUSG00000048814
AA Change: M435L
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:TPR
|
22 |
55 |
2e-14 |
BLAST |
|
low complexity region
|
72 |
87 |
N/A |
INTRINSIC |
|
RING
|
213 |
250 |
1.54e-5 |
SMART |
|
Pfam:LON_substr_bdg
|
301 |
498 |
2.6e-27 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad10 |
A |
G |
5: 121,784,923 (GRCm39) |
V231A |
probably damaging |
Het |
| Aff4 |
T |
C |
11: 53,297,509 (GRCm39) |
|
probably benign |
Het |
| Ano2 |
G |
A |
6: 125,849,714 (GRCm39) |
|
probably null |
Het |
| Aspm |
A |
G |
1: 139,417,457 (GRCm39) |
E2818G |
probably benign |
Het |
| Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
| Caprin1 |
T |
C |
2: 103,605,948 (GRCm39) |
|
probably benign |
Het |
| Clca3a2 |
T |
C |
3: 144,793,779 (GRCm39) |
H292R |
probably benign |
Het |
| Dnah11 |
G |
A |
12: 118,143,353 (GRCm39) |
T430M |
possibly damaging |
Het |
| Fgd6 |
A |
G |
10: 93,936,373 (GRCm39) |
N902S |
probably benign |
Het |
| Grm3 |
A |
G |
5: 9,639,847 (GRCm39) |
I66T |
probably damaging |
Het |
| H13 |
T |
A |
2: 152,530,602 (GRCm39) |
F158L |
probably damaging |
Het |
| Kcnb2 |
A |
G |
1: 15,780,979 (GRCm39) |
E617G |
probably damaging |
Het |
| Kcnh7 |
T |
C |
2: 62,680,781 (GRCm39) |
S269G |
possibly damaging |
Het |
| Krit1 |
T |
A |
5: 3,872,103 (GRCm39) |
I376N |
probably damaging |
Het |
| Map2 |
A |
T |
1: 66,419,876 (GRCm39) |
D69V |
possibly damaging |
Het |
| Mon1b |
G |
T |
8: 114,365,455 (GRCm39) |
R261L |
possibly damaging |
Het |
| Myh3 |
C |
T |
11: 66,978,371 (GRCm39) |
P453S |
probably benign |
Het |
| Or51d1 |
T |
A |
7: 102,348,291 (GRCm39) |
V282D |
possibly damaging |
Het |
| Pi4k2b |
T |
C |
5: 52,925,081 (GRCm39) |
F442L |
probably damaging |
Het |
| Pla2g12b |
T |
A |
10: 59,252,275 (GRCm39) |
C49S |
probably damaging |
Het |
| Polr2a |
C |
T |
11: 69,630,293 (GRCm39) |
R1258Q |
probably benign |
Het |
| Prmt8 |
A |
C |
6: 127,688,786 (GRCm39) |
S195A |
probably damaging |
Het |
| Pwp1 |
T |
A |
10: 85,717,967 (GRCm39) |
|
probably null |
Het |
| Rxfp1 |
C |
A |
3: 79,578,153 (GRCm39) |
|
probably null |
Het |
| Skor1 |
A |
T |
9: 63,053,159 (GRCm39) |
M270K |
probably damaging |
Het |
| Slc12a4 |
T |
C |
8: 106,676,438 (GRCm39) |
N495D |
possibly damaging |
Het |
| Slc26a3 |
T |
C |
12: 31,507,095 (GRCm39) |
V350A |
probably damaging |
Het |
| Slc44a4 |
T |
A |
17: 35,147,463 (GRCm39) |
V430D |
probably damaging |
Het |
| Slit2 |
C |
A |
5: 48,461,565 (GRCm39) |
C1537* |
probably null |
Het |
| Tas2r135 |
A |
T |
6: 42,383,214 (GRCm39) |
H251L |
probably damaging |
Het |
| Tbr1 |
T |
C |
2: 61,642,042 (GRCm39) |
F436L |
probably benign |
Het |
| Them6 |
A |
T |
15: 74,593,504 (GRCm39) |
T121S |
possibly damaging |
Het |
| Tmem145 |
G |
A |
7: 25,007,657 (GRCm39) |
M221I |
probably benign |
Het |
| Trrap |
T |
C |
5: 144,761,360 (GRCm39) |
V2300A |
probably benign |
Het |
| Usf3 |
C |
A |
16: 44,040,674 (GRCm39) |
A1718D |
possibly damaging |
Het |
| Usp10 |
C |
A |
8: 120,675,514 (GRCm39) |
S511Y |
probably damaging |
Het |
| Wdr38 |
A |
T |
2: 38,888,424 (GRCm39) |
N7I |
probably damaging |
Het |
| Wnt9a |
T |
C |
11: 59,219,331 (GRCm39) |
F119S |
probably damaging |
Het |
| Zc3h7b |
G |
A |
15: 81,677,338 (GRCm39) |
G880S |
probably benign |
Het |
|
| Other mutations in Lonrf2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00843:Lonrf2
|
APN |
1 |
38,851,616 (GRCm39) |
splice site |
probably benign |
|
|
IGL02369:Lonrf2
|
APN |
1 |
38,850,913 (GRCm39) |
splice site |
probably benign |
|
|
gorged
|
UTSW |
1 |
38,843,417 (GRCm39) |
missense |
probably benign |
0.05 |
|
Swollen
|
UTSW |
1 |
38,852,470 (GRCm39) |
missense |
probably benign |
|
|
R1450:Lonrf2
|
UTSW |
1 |
38,852,357 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1527:Lonrf2
|
UTSW |
1 |
38,852,357 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1541:Lonrf2
|
UTSW |
1 |
38,852,357 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1655:Lonrf2
|
UTSW |
1 |
38,850,905 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1679:Lonrf2
|
UTSW |
1 |
38,852,357 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1681:Lonrf2
|
UTSW |
1 |
38,852,357 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1711:Lonrf2
|
UTSW |
1 |
38,852,357 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1732:Lonrf2
|
UTSW |
1 |
38,852,357 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1758:Lonrf2
|
UTSW |
1 |
38,852,357 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1768:Lonrf2
|
UTSW |
1 |
38,852,357 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1795:Lonrf2
|
UTSW |
1 |
38,852,357 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1831:Lonrf2
|
UTSW |
1 |
38,852,357 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1832:Lonrf2
|
UTSW |
1 |
38,852,357 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1833:Lonrf2
|
UTSW |
1 |
38,852,357 (GRCm39) |
missense |
probably benign |
0.14 |
|
R2044:Lonrf2
|
UTSW |
1 |
38,846,131 (GRCm39) |
missense |
probably benign |
0.17 |
|
R2054:Lonrf2
|
UTSW |
1 |
38,852,357 (GRCm39) |
missense |
probably benign |
0.14 |
|
R2656:Lonrf2
|
UTSW |
1 |
38,855,041 (GRCm39) |
splice site |
probably null |
|
|
R4084:Lonrf2
|
UTSW |
1 |
38,860,232 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4775:Lonrf2
|
UTSW |
1 |
38,857,140 (GRCm39) |
splice site |
probably null |
|
|
R4796:Lonrf2
|
UTSW |
1 |
38,855,119 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5445:Lonrf2
|
UTSW |
1 |
38,846,234 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5875:Lonrf2
|
UTSW |
1 |
38,846,128 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5902:Lonrf2
|
UTSW |
1 |
38,846,174 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6441:Lonrf2
|
UTSW |
1 |
38,857,204 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R6533:Lonrf2
|
UTSW |
1 |
38,852,349 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6695:Lonrf2
|
UTSW |
1 |
38,852,470 (GRCm39) |
missense |
probably benign |
|
|
R6930:Lonrf2
|
UTSW |
1 |
38,843,417 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7923:Lonrf2
|
UTSW |
1 |
38,839,843 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8237:Lonrf2
|
UTSW |
1 |
38,839,854 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9072:Lonrf2
|
UTSW |
1 |
38,850,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9073:Lonrf2
|
UTSW |
1 |
38,850,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9433:Lonrf2
|
UTSW |
1 |
38,875,538 (GRCm39) |
start gained |
probably benign |
|
|
R9468:Lonrf2
|
UTSW |
1 |
38,839,839 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2015-04-16 |
Incidental Mutation