Incidental Mutation 'IGL02369:Lonrf2'
| ID |
290869 |
| 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 # |
IGL02369
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
38832750-38875768 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 38850913 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117600
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039612]
[ENSMUST00000147695]
|
| AlphaFold |
F6ZE64 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039612
|
| SMART Domains |
Protein: ENSMUSP00000047372
Gene: ENSMUSG00000048814
| 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
|
| SMART Domains |
Protein: ENSMUSP00000117600
Gene: ENSMUSG00000048814
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adck2 |
G |
T |
6: 39,551,678 (GRCm39) |
L148F |
probably damaging |
Het |
| Arhgef10 |
G |
A |
8: 15,047,551 (GRCm39) |
R1138H |
probably damaging |
Het |
| Arpp21 |
T |
C |
9: 111,948,266 (GRCm39) |
T668A |
probably benign |
Het |
| Atp6v0b |
T |
A |
4: 117,742,850 (GRCm39) |
I79F |
possibly damaging |
Het |
| Atp8b5 |
A |
T |
4: 43,334,205 (GRCm39) |
N324Y |
probably benign |
Het |
| Bach2 |
A |
G |
4: 32,579,975 (GRCm39) |
I610M |
possibly damaging |
Het |
| Casr |
G |
T |
16: 36,315,051 (GRCm39) |
D929E |
probably benign |
Het |
| Cbln2 |
T |
C |
18: 86,731,479 (GRCm39) |
S96P |
probably damaging |
Het |
| Cpxm1 |
T |
C |
2: 130,238,344 (GRCm39) |
K73E |
probably damaging |
Het |
| Erap1 |
A |
G |
13: 74,814,645 (GRCm39) |
Y457C |
probably benign |
Het |
| Etl4 |
T |
C |
2: 20,535,000 (GRCm39) |
Y152H |
probably damaging |
Het |
| Fbh1 |
A |
T |
2: 11,751,969 (GRCm39) |
S910T |
possibly damaging |
Het |
| Gm10142 |
T |
C |
10: 77,551,947 (GRCm39) |
S103P |
probably benign |
Het |
| Gm12886 |
A |
G |
4: 121,280,229 (GRCm39) |
S16P |
unknown |
Het |
| Gpr146 |
T |
C |
5: 139,378,443 (GRCm39) |
Y82H |
probably benign |
Het |
| Herc1 |
C |
T |
9: 66,399,293 (GRCm39) |
Q4282* |
probably null |
Het |
| Htr2a |
A |
T |
14: 74,943,722 (GRCm39) |
E434V |
probably benign |
Het |
| Iqsec3 |
T |
C |
6: 121,389,893 (GRCm39) |
|
probably benign |
Het |
| Islr |
A |
C |
9: 58,064,907 (GRCm39) |
V200G |
probably damaging |
Het |
| Katnal1 |
T |
C |
5: 148,815,737 (GRCm39) |
D400G |
probably benign |
Het |
| Lrp2 |
A |
T |
2: 69,294,980 (GRCm39) |
L3446Q |
probably damaging |
Het |
| Med12l |
G |
A |
3: 59,164,794 (GRCm39) |
V1425I |
probably benign |
Het |
| Myh13 |
T |
C |
11: 67,251,100 (GRCm39) |
|
probably benign |
Het |
| Nutm2 |
T |
G |
13: 50,623,944 (GRCm39) |
S214A |
probably benign |
Het |
| Or10aa1 |
T |
A |
1: 173,869,539 (GRCm39) |
W8R |
possibly damaging |
Het |
| Or2h1b |
A |
G |
17: 37,462,665 (GRCm39) |
F66S |
probably damaging |
Het |
| Or5b99 |
T |
C |
19: 12,977,072 (GRCm39) |
S241P |
probably damaging |
Het |
| Or6c33 |
C |
A |
10: 129,853,425 (GRCm39) |
A65E |
possibly damaging |
Het |
| Pax5 |
A |
T |
4: 44,691,919 (GRCm39) |
M109K |
probably damaging |
Het |
| Pfkfb2 |
G |
A |
1: 130,628,572 (GRCm39) |
R345W |
probably damaging |
Het |
| Pkd1l3 |
A |
G |
8: 110,342,977 (GRCm39) |
D105G |
unknown |
Het |
| Prdm11 |
A |
G |
2: 92,805,864 (GRCm39) |
V362A |
probably benign |
Het |
| Prex2 |
T |
C |
1: 11,171,393 (GRCm39) |
|
probably null |
Het |
| Prl8a1 |
T |
C |
13: 27,760,924 (GRCm39) |
T103A |
possibly damaging |
Het |
| Rgl1 |
T |
C |
1: 152,409,357 (GRCm39) |
I493V |
probably damaging |
Het |
| Rimkla |
A |
G |
4: 119,335,146 (GRCm39) |
V79A |
possibly damaging |
Het |
| Ryr2 |
A |
T |
13: 11,634,382 (GRCm39) |
S3791R |
possibly damaging |
Het |
| Sh3rf2 |
C |
A |
18: 42,289,222 (GRCm39) |
S681* |
probably null |
Het |
| Stmnd1 |
T |
A |
13: 46,439,029 (GRCm39) |
I87K |
probably benign |
Het |
| Tspan8 |
C |
A |
10: 115,675,782 (GRCm39) |
F149L |
probably benign |
Het |
| Tspan8 |
A |
C |
10: 115,675,783 (GRCm39) |
K150Q |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,772,720 (GRCm39) |
E2425G |
probably damaging |
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 |
|
|
IGL02526:Lonrf2
|
APN |
1 |
38,839,791 (GRCm39) |
missense |
probably benign |
0.02 |
|
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