Incidental Mutation 'R6485:Lonrf1'
| ID |
517301 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lonrf1
|
| Ensembl Gene |
ENSMUSG00000039633 |
| Gene Name |
LON peptidase N-terminal domain and ring finger 1 |
| Synonyms |
|
| MMRRC Submission |
044617-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.220)
|
| Stock # |
R6485 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
36683216-36716513 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 36696288 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066403
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065297]
[ENSMUST00000065297]
|
| AlphaFold |
D3YY23 |
| Predicted Effect |
probably null
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 |
|
| Predicted Effect |
probably null
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 |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
C |
A |
7: 120,026,390 (GRCm39) |
Y117* |
probably null |
Het |
| Acot5 |
A |
T |
12: 84,122,258 (GRCm39) |
R281W |
probably damaging |
Het |
| Adamts20 |
T |
C |
15: 94,241,852 (GRCm39) |
T719A |
probably benign |
Het |
| Arhgap33 |
T |
C |
7: 30,223,429 (GRCm39) |
T867A |
probably benign |
Het |
| Bcl2a1c |
T |
C |
9: 114,159,278 (GRCm39) |
Y19H |
probably benign |
Het |
| Bod1l |
A |
G |
5: 41,974,459 (GRCm39) |
I2285T |
possibly damaging |
Het |
| Cacna2d1 |
A |
G |
5: 16,559,655 (GRCm39) |
Y755C |
probably damaging |
Het |
| Cdc27 |
T |
C |
11: 104,396,474 (GRCm39) |
T816A |
probably benign |
Het |
| Clasrp |
C |
A |
7: 19,320,294 (GRCm39) |
|
probably benign |
Het |
| Col6a4 |
A |
G |
9: 105,954,069 (GRCm39) |
|
probably null |
Het |
| Cpd |
T |
C |
11: 76,699,533 (GRCm39) |
|
probably null |
Het |
| Crispld2 |
A |
G |
8: 120,756,048 (GRCm39) |
D339G |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,333,610 (GRCm39) |
D7046G |
probably damaging |
Het |
| Erbin |
G |
T |
13: 104,004,621 (GRCm39) |
Q136K |
probably damaging |
Het |
| Exph5 |
G |
A |
9: 53,287,991 (GRCm39) |
E1691K |
possibly damaging |
Het |
| Fads6 |
A |
G |
11: 115,176,264 (GRCm39) |
F187S |
probably benign |
Het |
| Foxg1 |
A |
T |
12: 49,431,863 (GRCm39) |
I199F |
probably damaging |
Het |
| Garem1 |
T |
C |
18: 21,262,894 (GRCm39) |
D640G |
probably benign |
Het |
| Gba2 |
A |
C |
4: 43,574,118 (GRCm39) |
Y112D |
probably damaging |
Het |
| Gcfc2 |
T |
C |
6: 81,916,528 (GRCm39) |
I323T |
probably damaging |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gria4 |
T |
A |
9: 4,464,249 (GRCm39) |
Y571F |
probably damaging |
Het |
| Large2 |
T |
C |
2: 92,196,373 (GRCm39) |
T485A |
probably benign |
Het |
| Mrgprb5 |
T |
C |
7: 47,818,525 (GRCm39) |
N70S |
probably damaging |
Het |
| Muc2 |
T |
A |
7: 141,300,473 (GRCm39) |
|
probably benign |
Het |
| Nol4 |
T |
C |
18: 22,903,850 (GRCm39) |
D375G |
probably damaging |
Het |
| Or2b2 |
A |
G |
13: 21,887,600 (GRCm39) |
Q143R |
probably benign |
Het |
| Pcnt |
G |
T |
10: 76,225,164 (GRCm39) |
S1780* |
probably null |
Het |
| Pdgfra |
A |
T |
5: 75,335,735 (GRCm39) |
|
probably null |
Het |
| Pgd |
A |
T |
4: 149,240,876 (GRCm39) |
|
probably null |
Het |
| Pla2g6 |
T |
C |
15: 79,191,572 (GRCm39) |
I279V |
probably benign |
Het |
| Ptpn21 |
A |
T |
12: 98,665,131 (GRCm39) |
C297* |
probably null |
Het |
| Ripply1 |
TTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT |
TTCCTCCTCCTCCTCCTCCTCCTCCTCCT |
X: 138,680,599 (GRCm39) |
|
probably benign |
Het |
| Rtcb |
T |
C |
10: 85,793,508 (GRCm39) |
I22V |
probably benign |
Het |
| Slc25a30 |
G |
T |
14: 76,012,447 (GRCm39) |
A67E |
probably damaging |
Het |
| Stk11ip |
T |
C |
1: 75,506,612 (GRCm39) |
V605A |
possibly damaging |
Het |
| Ush1c |
A |
T |
7: 45,858,534 (GRCm39) |
S585T |
probably benign |
Het |
| Vps13a |
T |
C |
19: 16,657,414 (GRCm39) |
D1785G |
probably damaging |
Het |
| Zic5 |
T |
A |
14: 122,697,052 (GRCm39) |
Y521F |
unknown |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
|
| Posted On |
2018-05-21 |
Incidental Mutation