Incidental Mutation 'R1527:Lonrf2'
ID |
166261 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lonrf2
|
Ensembl Gene |
ENSMUSG00000048814 |
Gene Name |
LON peptidase N-terminal domain and ring finger 2 |
Synonyms |
2900060P06Rik |
MMRRC Submission |
039567-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.061)
|
Stock # |
R1527 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
38832750-38875768 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 38852357 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 165
(P165S)
|
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: P165S
PolyPhen 2
Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000047372 Gene: ENSMUSG00000048814 AA Change: P165S
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: P165S
PolyPhen 2
Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000117600 Gene: ENSMUSG00000048814 AA Change: P165S
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 |
|
Meta Mutation Damage Score |
0.0795 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110059E24Rik |
C |
A |
19: 21,575,633 (GRCm39) |
C130F |
probably damaging |
Het |
4933402N03Rik |
T |
C |
7: 130,740,589 (GRCm39) |
D209G |
probably benign |
Het |
Adam7 |
A |
G |
14: 68,738,970 (GRCm39) |
V744A |
probably benign |
Het |
Atr |
G |
T |
9: 95,752,096 (GRCm39) |
R571I |
possibly damaging |
Het |
C5ar1 |
A |
G |
7: 15,982,118 (GRCm39) |
Y301H |
probably damaging |
Het |
Cacna1d |
A |
G |
14: 29,829,753 (GRCm39) |
I954T |
probably damaging |
Het |
Ccdc157 |
A |
G |
11: 4,101,795 (GRCm39) |
F42S |
probably damaging |
Het |
Cfap251 |
T |
C |
5: 123,425,408 (GRCm39) |
V789A |
probably benign |
Het |
Chd2 |
A |
T |
7: 73,140,362 (GRCm39) |
L622* |
probably null |
Het |
Csmd3 |
T |
C |
15: 47,811,483 (GRCm39) |
T1203A |
probably benign |
Het |
Cxcl17 |
A |
G |
7: 25,101,636 (GRCm39) |
V67A |
possibly damaging |
Het |
Ddx4 |
T |
C |
13: 112,758,773 (GRCm39) |
T263A |
possibly damaging |
Het |
Eps8l1 |
A |
G |
7: 4,474,393 (GRCm39) |
D288G |
probably benign |
Het |
Fbxl4 |
A |
G |
4: 22,386,154 (GRCm39) |
K254E |
probably benign |
Het |
Glis1 |
T |
C |
4: 107,425,123 (GRCm39) |
S245P |
probably damaging |
Het |
Gm11111 |
T |
C |
5: 98,701,387 (GRCm39) |
|
probably benign |
Het |
Haus3 |
A |
T |
5: 34,311,397 (GRCm39) |
H544Q |
probably benign |
Het |
Hmcn1 |
A |
G |
1: 150,649,554 (GRCm39) |
V644A |
probably benign |
Het |
Lmo7 |
T |
C |
14: 102,114,264 (GRCm39) |
L2P |
probably damaging |
Het |
Mga |
A |
G |
2: 119,747,078 (GRCm39) |
T410A |
probably damaging |
Het |
Mical3 |
T |
C |
6: 121,001,740 (GRCm39) |
D584G |
probably damaging |
Het |
Miga1 |
A |
T |
3: 152,023,300 (GRCm39) |
F250L |
possibly damaging |
Het |
Mroh1 |
A |
G |
15: 76,336,463 (GRCm39) |
D1553G |
probably benign |
Het |
Myof |
T |
C |
19: 37,913,067 (GRCm39) |
Y1462C |
probably damaging |
Het |
Notch4 |
T |
C |
17: 34,784,718 (GRCm39) |
C144R |
probably damaging |
Het |
Obox1 |
T |
C |
7: 15,289,250 (GRCm39) |
V55A |
probably damaging |
Het |
Or14j8 |
T |
A |
17: 38,263,720 (GRCm39) |
H65L |
possibly damaging |
Het |
Or4a69 |
C |
T |
2: 89,312,876 (GRCm39) |
G201D |
probably benign |
Het |
Or6c69c |
T |
A |
10: 129,911,061 (GRCm39) |
S261T |
probably damaging |
Het |
Pclo |
T |
C |
5: 14,729,662 (GRCm39) |
|
probably benign |
Het |
Prr14l |
C |
T |
5: 32,985,293 (GRCm39) |
V1401I |
possibly damaging |
Het |
Rad51ap1 |
T |
C |
6: 126,905,130 (GRCm39) |
|
probably null |
Het |
Rev3l |
T |
A |
10: 39,698,818 (GRCm39) |
V1105D |
probably damaging |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Sgsm2 |
A |
T |
11: 74,744,674 (GRCm39) |
C848* |
probably null |
Het |
Slc39a10 |
A |
T |
1: 46,858,422 (GRCm39) |
V625E |
probably benign |
Het |
Spry4 |
C |
T |
18: 38,723,630 (GRCm39) |
M44I |
probably benign |
Het |
Stat5b |
A |
T |
11: 100,699,220 (GRCm39) |
|
probably null |
Het |
Tas2r126 |
T |
C |
6: 42,412,070 (GRCm39) |
I201T |
probably benign |
Het |
Tasor |
T |
C |
14: 27,202,050 (GRCm39) |
|
probably null |
Het |
Tex44 |
A |
G |
1: 86,355,368 (GRCm39) |
T426A |
probably benign |
Het |
Tln2 |
T |
C |
9: 67,179,950 (GRCm39) |
D807G |
possibly damaging |
Het |
Tlr9 |
A |
G |
9: 106,100,949 (GRCm39) |
N80S |
probably benign |
Het |
Trpm7 |
A |
C |
2: 126,672,082 (GRCm39) |
H579Q |
probably benign |
Het |
Ufd1 |
T |
C |
16: 18,633,661 (GRCm39) |
S29P |
probably damaging |
Het |
Ugt2a3 |
G |
T |
5: 87,473,457 (GRCm39) |
Q487K |
probably damaging |
Het |
Zfyve9 |
A |
G |
4: 108,552,964 (GRCm39) |
|
probably null |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AAAAGAAGCCGGTCTCCTCATTTCC -3'
(R):5'- CCCATAGATTTCAGAGAAGGCTAACGC -3'
Sequencing Primer
(F):5'- CATTTCCTTATGGATTTCACTTGTG -3'
(R):5'- ggtttagtttgctttggtttgg -3'
|
Posted On |
2014-04-13 |