Incidental Mutation 'IGL03163:Lonrf1'
| ID |
411508 |
| 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 # |
IGL03163
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
36683216-36716513 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 36697484 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 500
(D500G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066403
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065297]
|
| AlphaFold |
D3YY23 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065297
AA Change: D500G
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000066403
Gene: ENSMUSG00000039633
AA Change: D500G
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn1 |
T |
A |
12: 80,228,191 (GRCm39) |
D393V |
probably benign |
Het |
| Amz2 |
C |
A |
11: 109,319,751 (GRCm39) |
Q46K |
probably benign |
Het |
| Ankhd1 |
G |
A |
18: 36,780,681 (GRCm39) |
R1911H |
probably damaging |
Het |
| Apba3 |
A |
G |
10: 81,105,057 (GRCm39) |
|
probably null |
Het |
| Atxn1l |
T |
C |
8: 110,459,017 (GRCm39) |
N415S |
probably damaging |
Het |
| Clu |
C |
T |
14: 66,217,235 (GRCm39) |
S356F |
probably benign |
Het |
| Cluh |
T |
C |
11: 74,556,894 (GRCm39) |
V1029A |
probably benign |
Het |
| Creb3 |
C |
T |
4: 43,566,315 (GRCm39) |
L274F |
probably damaging |
Het |
| Dcaf8 |
T |
C |
1: 172,000,475 (GRCm39) |
V211A |
probably damaging |
Het |
| Emilin3 |
G |
A |
2: 160,750,649 (GRCm39) |
Q320* |
probably null |
Het |
| Fam131c |
T |
C |
4: 141,110,069 (GRCm39) |
F156L |
probably damaging |
Het |
| Fbxw21 |
T |
A |
9: 108,974,552 (GRCm39) |
I323F |
probably benign |
Het |
| Fmo9 |
A |
G |
1: 166,502,019 (GRCm39) |
V202A |
possibly damaging |
Het |
| Gipr |
C |
T |
7: 18,896,481 (GRCm39) |
W205* |
probably null |
Het |
| Gm13941 |
A |
T |
2: 110,928,761 (GRCm39) |
I99K |
unknown |
Het |
| Gpr22 |
A |
T |
12: 31,759,171 (GRCm39) |
V317E |
possibly damaging |
Het |
| Hace1 |
T |
C |
10: 45,548,701 (GRCm39) |
I582T |
probably damaging |
Het |
| Iho1 |
G |
T |
9: 108,282,132 (GRCm39) |
L519I |
probably benign |
Het |
| Khdrbs1 |
T |
C |
4: 129,619,508 (GRCm39) |
E211G |
probably benign |
Het |
| Lrp2 |
A |
C |
2: 69,331,870 (GRCm39) |
Y1628* |
probably null |
Het |
| Lrrc40 |
T |
C |
3: 157,747,224 (GRCm39) |
I112T |
possibly damaging |
Het |
| Matr3 |
G |
A |
18: 35,705,644 (GRCm39) |
D190N |
probably damaging |
Het |
| Or8c16 |
T |
C |
9: 38,130,710 (GRCm39) |
V194A |
probably benign |
Het |
| Ptpn13 |
A |
T |
5: 103,739,212 (GRCm39) |
D2326V |
probably damaging |
Het |
| Ptpn3 |
T |
C |
4: 57,222,020 (GRCm39) |
D557G |
probably damaging |
Het |
| Rangap1 |
A |
T |
15: 81,600,801 (GRCm39) |
N194K |
probably damaging |
Het |
| Rasgef1c |
T |
C |
11: 49,862,200 (GRCm39) |
V363A |
possibly damaging |
Het |
| Ric8b |
A |
G |
10: 84,837,686 (GRCm39) |
N498D |
probably damaging |
Het |
| Scn1a |
A |
C |
2: 66,148,418 (GRCm39) |
D22E |
probably benign |
Het |
| Spc25 |
T |
G |
2: 69,027,548 (GRCm39) |
I115L |
probably damaging |
Het |
| Sspo |
A |
G |
6: 48,461,266 (GRCm39) |
H3569R |
probably benign |
Het |
| Stra6l |
T |
C |
4: 45,881,455 (GRCm39) |
I439T |
probably benign |
Het |
| Trappc12 |
G |
T |
12: 28,796,653 (GRCm39) |
P293Q |
probably damaging |
Het |
| Trcg1 |
T |
C |
9: 57,155,630 (GRCm39) |
L761P |
possibly damaging |
Het |
| Usp15 |
A |
C |
10: 123,007,049 (GRCm39) |
M144R |
probably damaging |
Het |
| Vmn2r11 |
T |
C |
5: 109,201,692 (GRCm39) |
I271V |
probably benign |
Het |
| Zcchc2 |
T |
C |
1: 105,958,841 (GRCm39) |
V1104A |
probably damaging |
Het |
| Zftraf1 |
A |
T |
15: 76,543,474 (GRCm39) |
L13Q |
probably damaging |
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 |
|
|
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 |
2016-08-02 |
Incidental Mutation