Incidental Mutation 'IGL00569:Rnls'
| ID |
13846 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rnls
|
| Ensembl Gene |
ENSMUSG00000071573 |
| Gene Name |
renalase, FAD-dependent amine oxidase |
| Synonyms |
6530404N21Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00569
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
33115147-33369665 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 33145888 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 195
(E195V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093825
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096114]
[ENSMUST00000163093]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096114
AA Change: E195V
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000093825
Gene: ENSMUSG00000071573
AA Change: E195V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Amino_oxidase
|
13 |
292 |
7.8e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163093
AA Change: E77V
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000127592
Gene: ENSMUSG00000071573
AA Change: E77V
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3QJ4|B
|
1 |
182 |
1e-92 |
PDB |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Renalase is a flavin adenine dinucleotide-dependent amine oxidase that is secreted into the blood from the kidney (Xu et al., 2005 [PubMed 15841207]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit aggravated ischemic myocardial damage, increased heart rate, increased blood pressure and increased serum levels of dopamine, adrenaline and noradrenaline. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
G |
11: 110,077,875 (GRCm39) |
N1311H |
possibly damaging |
Het |
| Adrm1b |
T |
C |
3: 92,335,707 (GRCm39) |
T332A |
probably benign |
Het |
| Apol8 |
C |
T |
15: 77,634,255 (GRCm39) |
R107H |
probably benign |
Het |
| Cacna1a |
T |
A |
8: 85,189,343 (GRCm39) |
I98N |
probably damaging |
Het |
| Clps |
T |
A |
17: 28,779,636 (GRCm39) |
|
probably benign |
Het |
| Dcc |
T |
A |
18: 71,517,296 (GRCm39) |
|
probably null |
Het |
| Dock10 |
A |
G |
1: 80,562,729 (GRCm39) |
F544L |
probably damaging |
Het |
| Eif2ak2 |
A |
T |
17: 79,176,912 (GRCm39) |
S218T |
probably benign |
Het |
| Faf1 |
T |
C |
4: 109,819,077 (GRCm39) |
*650Q |
probably null |
Het |
| Fxn |
A |
T |
19: 24,244,714 (GRCm39) |
I142N |
probably damaging |
Het |
| Gm10610 |
A |
T |
7: 83,198,778 (GRCm39) |
|
noncoding transcript |
Het |
| Hspa1l |
C |
T |
17: 35,196,441 (GRCm39) |
T160I |
probably damaging |
Het |
| Kcng4 |
A |
G |
8: 120,353,070 (GRCm39) |
V280A |
probably benign |
Het |
| Khsrp |
T |
C |
17: 57,330,092 (GRCm39) |
T646A |
possibly damaging |
Het |
| Lilra6 |
A |
G |
7: 3,917,588 (GRCm39) |
S136P |
probably damaging |
Het |
| Lmo7 |
T |
G |
14: 102,124,487 (GRCm39) |
N315K |
probably damaging |
Het |
| Map3k5 |
A |
G |
10: 19,810,790 (GRCm39) |
T147A |
possibly damaging |
Het |
| Mical3 |
T |
C |
6: 120,938,585 (GRCm39) |
E1134G |
possibly damaging |
Het |
| Nek3 |
A |
G |
8: 22,648,722 (GRCm39) |
L103P |
probably damaging |
Het |
| Nudt17 |
G |
T |
3: 96,614,343 (GRCm39) |
P222Q |
probably damaging |
Het |
| Pla2r1 |
G |
T |
2: 60,250,769 (GRCm39) |
T1386K |
probably benign |
Het |
| Ptpn13 |
A |
G |
5: 103,738,872 (GRCm39) |
|
probably benign |
Het |
| Rgl1 |
A |
C |
1: 152,447,368 (GRCm39) |
S134A |
probably benign |
Het |
| Sall4 |
T |
C |
2: 168,597,232 (GRCm39) |
N536S |
probably benign |
Het |
| Serinc3 |
G |
T |
2: 163,469,921 (GRCm39) |
P309Q |
probably damaging |
Het |
| Smc5 |
G |
A |
19: 23,213,329 (GRCm39) |
R528C |
probably damaging |
Het |
| Stxbp3-ps |
A |
T |
19: 9,535,186 (GRCm39) |
|
noncoding transcript |
Het |
| Tmem67 |
T |
A |
4: 12,061,826 (GRCm39) |
I549L |
probably damaging |
Het |
| Trank1 |
C |
A |
9: 111,174,579 (GRCm39) |
H269N |
possibly damaging |
Het |
| Wdr87-ps |
A |
T |
7: 29,233,565 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Rnls |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01554:Rnls
|
APN |
19 |
33,368,499 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL02312:Rnls
|
APN |
19 |
33,145,783 (GRCm39) |
missense |
probably benign |
0.36 |
|
IGL02392:Rnls
|
APN |
19 |
33,180,012 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02525:Rnls
|
APN |
19 |
33,115,614 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL02646:Rnls
|
APN |
19 |
33,115,684 (GRCm39) |
splice site |
probably benign |
|
|
IGL03097:Rnls
|
APN |
19 |
33,115,679 (GRCm39) |
splice site |
probably benign |
|
|
R1232:Rnls
|
UTSW |
19 |
33,180,046 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1832:Rnls
|
UTSW |
19 |
33,145,895 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1844:Rnls
|
UTSW |
19 |
33,179,931 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2063:Rnls
|
UTSW |
19 |
33,179,944 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5255:Rnls
|
UTSW |
19 |
33,359,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6140:Rnls
|
UTSW |
19 |
33,115,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6986:Rnls
|
UTSW |
19 |
33,359,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8260:Rnls
|
UTSW |
19 |
33,180,048 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2012-12-06 |
Incidental Mutation