Incidental Mutation 'IGL03225:Lonrf1'
| ID |
413762 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lonrf1
|
| Ensembl Gene |
ENSMUSG00000039633 |
| Gene Name |
LON peptidase N-terminal domain and ring finger 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.220)
|
| Stock # |
IGL03225
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
36683216-36716513 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 36689855 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 706
(V706A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066403
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065297]
|
| AlphaFold |
D3YY23 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065297
AA Change: V706A
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000066403
Gene: ENSMUSG00000039633
AA Change: V706A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
38 |
N/A |
INTRINSIC |
|
low complexity region
|
54 |
68 |
N/A |
INTRINSIC |
|
low complexity region
|
106 |
161 |
N/A |
INTRINSIC |
|
RING
|
193 |
228 |
1.57e-2 |
SMART |
|
SCOP:d1elwa_
|
274 |
387 |
3e-16 |
SMART |
|
Blast:TPR
|
309 |
342 |
1e-14 |
BLAST |
|
Blast:TPR
|
343 |
376 |
2e-15 |
BLAST |
|
low complexity region
|
454 |
464 |
N/A |
INTRINSIC |
|
RING
|
543 |
580 |
3.12e-6 |
SMART |
|
Pfam:LON_substr_bdg
|
631 |
830 |
8e-30 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933405O20Rik |
A |
G |
7: 50,249,668 (GRCm39) |
K234R |
probably benign |
Het |
| Adam21 |
T |
C |
12: 81,606,043 (GRCm39) |
E573G |
probably benign |
Het |
| Aox4 |
A |
T |
1: 58,286,386 (GRCm39) |
I673F |
possibly damaging |
Het |
| Arfgef1 |
A |
T |
1: 10,224,543 (GRCm39) |
I1431N |
probably damaging |
Het |
| Cask |
A |
G |
X: 13,531,760 (GRCm39) |
M103V |
possibly damaging |
Het |
| Clba1 |
T |
C |
12: 112,779,211 (GRCm39) |
Y283H |
probably damaging |
Het |
| Fam83h |
T |
C |
15: 75,875,150 (GRCm39) |
E729G |
probably damaging |
Het |
| Gnb4 |
T |
C |
3: 32,641,881 (GRCm39) |
T249A |
probably damaging |
Het |
| Gpr12 |
A |
G |
5: 146,520,761 (GRCm39) |
S54P |
probably damaging |
Het |
| Krt20 |
A |
G |
11: 99,322,756 (GRCm39) |
V293A |
probably damaging |
Het |
| Lrrc58 |
T |
G |
16: 37,701,632 (GRCm39) |
C303W |
probably damaging |
Het |
| Mbnl2 |
A |
G |
14: 120,622,875 (GRCm39) |
T138A |
probably benign |
Het |
| Mss51 |
G |
A |
14: 20,537,205 (GRCm39) |
R88* |
probably null |
Het |
| Nup214 |
T |
A |
2: 31,924,423 (GRCm39) |
S146T |
probably damaging |
Het |
| Otop2 |
G |
A |
11: 115,220,633 (GRCm39) |
R491H |
probably damaging |
Het |
| Podnl1 |
G |
A |
8: 84,858,818 (GRCm39) |
V548I |
probably benign |
Het |
| Prkcz |
A |
T |
4: 155,352,652 (GRCm39) |
F492I |
probably damaging |
Het |
| Sgtb |
T |
C |
13: 104,268,453 (GRCm39) |
L163P |
probably damaging |
Het |
| Spsb3 |
T |
C |
17: 25,110,045 (GRCm39) |
I365T |
possibly damaging |
Het |
| Tmem273 |
A |
G |
14: 32,527,133 (GRCm39) |
I33M |
probably damaging |
Het |
| Trio |
T |
C |
15: 27,902,781 (GRCm39) |
I227V |
probably benign |
Het |
| Vdac1 |
G |
A |
11: 52,267,482 (GRCm39) |
R93H |
probably benign |
Het |
| Wasf2 |
A |
G |
4: 132,903,857 (GRCm39) |
T22A |
probably benign |
Het |
|
| Other mutations in Lonrf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00420:Lonrf1
|
APN |
8 |
36,697,231 (GRCm39) |
splice site |
probably benign |
|
|
IGL02195:Lonrf1
|
APN |
8 |
36,687,102 (GRCm39) |
nonsense |
probably null |
|
|
IGL03087:Lonrf1
|
APN |
8 |
36,692,705 (GRCm39) |
splice site |
probably null |
|
|
IGL03163:Lonrf1
|
APN |
8 |
36,697,484 (GRCm39) |
missense |
probably benign |
0.03 |
|
BB009:Lonrf1
|
UTSW |
8 |
36,690,070 (GRCm39) |
missense |
probably benign |
0.17 |
|
BB019:Lonrf1
|
UTSW |
8 |
36,690,070 (GRCm39) |
missense |
probably benign |
0.17 |
|
R0480:Lonrf1
|
UTSW |
8 |
36,689,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0504:Lonrf1
|
UTSW |
8 |
36,698,313 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0557:Lonrf1
|
UTSW |
8 |
36,697,574 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1489:Lonrf1
|
UTSW |
8 |
36,690,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1572:Lonrf1
|
UTSW |
8 |
36,701,126 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2225:Lonrf1
|
UTSW |
8 |
36,703,252 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2345:Lonrf1
|
UTSW |
8 |
36,690,016 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4821:Lonrf1
|
UTSW |
8 |
36,687,126 (GRCm39) |
missense |
probably benign |
|
|
R4934:Lonrf1
|
UTSW |
8 |
36,701,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5538:Lonrf1
|
UTSW |
8 |
36,690,178 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6124:Lonrf1
|
UTSW |
8 |
36,696,354 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6485:Lonrf1
|
UTSW |
8 |
36,696,288 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6603:Lonrf1
|
UTSW |
8 |
36,690,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6886:Lonrf1
|
UTSW |
8 |
36,696,191 (GRCm39) |
splice site |
probably null |
|
|
R7113:Lonrf1
|
UTSW |
8 |
36,697,664 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7689:Lonrf1
|
UTSW |
8 |
36,715,918 (GRCm39) |
nonsense |
probably null |
|
|
R7711:Lonrf1
|
UTSW |
8 |
36,716,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7743:Lonrf1
|
UTSW |
8 |
36,716,206 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7932:Lonrf1
|
UTSW |
8 |
36,690,070 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8085:Lonrf1
|
UTSW |
8 |
36,715,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8183:Lonrf1
|
UTSW |
8 |
36,689,819 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8500:Lonrf1
|
UTSW |
8 |
36,698,292 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8527:Lonrf1
|
UTSW |
8 |
36,686,986 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8993:Lonrf1
|
UTSW |
8 |
36,696,392 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9100:Lonrf1
|
UTSW |
8 |
36,715,919 (GRCm39) |
small deletion |
probably benign |
|
|
R9464:Lonrf1
|
UTSW |
8 |
36,690,024 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9479:Lonrf1
|
UTSW |
8 |
36,697,668 (GRCm39) |
nonsense |
probably null |
|
|
R9717:Lonrf1
|
UTSW |
8 |
36,701,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9794:Lonrf1
|
UTSW |
8 |
36,703,235 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2016-08-02 |
Incidental Mutation