Incidental Mutation 'IGL00420:Lonrf1'
| ID |
6231 |
| 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? |
Possibly non essential
(E-score: 0.259)
|
| Stock # |
IGL00420
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
36683216-36716513 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 36697231 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066403
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065297]
|
| AlphaFold |
D3YY23 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065297
|
| SMART Domains |
Protein: ENSMUSP00000066403
Gene: ENSMUSG00000039633
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adtrp |
A |
T |
13: 41,931,078 (GRCm39) |
S170T |
probably benign |
Het |
| Cep55 |
C |
A |
19: 38,061,887 (GRCm39) |
Q443K |
probably damaging |
Het |
| Ces1c |
T |
C |
8: 93,833,301 (GRCm39) |
E388G |
probably benign |
Het |
| Chd9 |
T |
C |
8: 91,752,020 (GRCm39) |
S1753P |
possibly damaging |
Het |
| Cse1l |
T |
A |
2: 166,769,724 (GRCm39) |
I343N |
probably damaging |
Het |
| Ctif |
T |
G |
18: 75,570,247 (GRCm39) |
M551L |
possibly damaging |
Het |
| Cyp2c29 |
A |
G |
19: 39,310,143 (GRCm39) |
|
probably benign |
Het |
| Filip1 |
G |
A |
9: 79,725,226 (GRCm39) |
T1131I |
probably damaging |
Het |
| Gm13941 |
G |
A |
2: 110,922,193 (GRCm39) |
|
probably benign |
Het |
| Klc3 |
T |
C |
7: 19,130,220 (GRCm39) |
E319G |
possibly damaging |
Het |
| Lrba |
A |
G |
3: 86,267,089 (GRCm39) |
E1593G |
probably benign |
Het |
| Mroh5 |
G |
A |
15: 73,664,638 (GRCm39) |
|
probably benign |
Het |
| Mthfr |
T |
A |
4: 148,125,727 (GRCm39) |
M20K |
probably benign |
Het |
| Nsd2 |
C |
A |
5: 34,040,347 (GRCm39) |
N960K |
possibly damaging |
Het |
| Osgin1 |
T |
A |
8: 120,171,785 (GRCm39) |
V193E |
probably damaging |
Het |
| Pced1a |
A |
T |
2: 130,261,098 (GRCm39) |
C420S |
probably benign |
Het |
| Pkd2l1 |
C |
T |
19: 44,146,075 (GRCm39) |
|
probably null |
Het |
| Plekhg5 |
C |
A |
4: 152,186,498 (GRCm39) |
|
probably null |
Het |
| Prkg2 |
A |
G |
5: 99,172,400 (GRCm39) |
V105A |
probably benign |
Het |
| Rab11fip3 |
A |
G |
17: 26,286,599 (GRCm39) |
I518T |
probably benign |
Het |
| Rapgef5 |
T |
A |
12: 117,677,917 (GRCm39) |
V150D |
probably damaging |
Het |
| Sema4c |
A |
G |
1: 36,593,001 (GRCm39) |
|
probably benign |
Het |
| Slc27a2 |
A |
G |
2: 126,422,837 (GRCm39) |
E354G |
probably damaging |
Het |
| Slc28a3 |
A |
T |
13: 58,722,114 (GRCm39) |
L257I |
probably benign |
Het |
| Slc2a8 |
G |
T |
2: 32,863,636 (GRCm39) |
Q469K |
probably damaging |
Het |
| Slc44a1 |
T |
C |
4: 53,553,550 (GRCm39) |
V519A |
possibly damaging |
Het |
| Slco6d1 |
A |
G |
1: 98,359,955 (GRCm39) |
|
probably null |
Het |
| Strap |
T |
C |
6: 137,722,521 (GRCm39) |
S219P |
probably damaging |
Het |
| Tjp1 |
T |
C |
7: 64,950,967 (GRCm39) |
I1636V |
probably benign |
Het |
| Tle1 |
G |
A |
4: 72,087,355 (GRCm39) |
R126C |
possibly damaging |
Het |
| Traf3 |
T |
A |
12: 111,205,501 (GRCm39) |
I94N |
probably damaging |
Het |
| Trps1 |
G |
T |
15: 50,710,266 (GRCm39) |
T28K |
probably benign |
Het |
| Unc13c |
T |
A |
9: 73,643,985 (GRCm39) |
T1160S |
probably damaging |
Het |
| Vapb |
G |
A |
2: 173,619,964 (GRCm39) |
V228M |
probably benign |
Het |
| Wdr3 |
A |
T |
3: 100,055,424 (GRCm39) |
D506E |
probably damaging |
Het |
| Zfp119a |
A |
T |
17: 56,172,792 (GRCm39) |
C350* |
probably null |
Het |
| Zfp51 |
A |
T |
17: 21,683,714 (GRCm39) |
M110L |
probably benign |
Het |
| Zfp687 |
G |
A |
3: 94,919,727 (GRCm39) |
A15V |
probably damaging |
Het |
| Zkscan6 |
A |
G |
11: 65,719,287 (GRCm39) |
T436A |
possibly damaging |
Het |
|
| Other mutations in Lonrf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
IGL03225:Lonrf1
|
APN |
8 |
36,689,855 (GRCm39) |
missense |
probably damaging |
0.96 |
|
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 |
2012-04-20 |
Incidental Mutation