Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03097:Rnls'

418618

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) question?

Stock #

IGL03097 (G1)

Quality Score

Status

Chromosome

Chromosomal Location

33115147-33369665 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 33115679 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000127592 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096114] [ENSMUST00000163093]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000096114

SMART Domains

Protein: ENSMUSP00000093825
Gene: ENSMUSG00000071573

Domain	Start	End	E-Value	Type
Pfam:Amino_oxidase	13	292	7.8e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000163093

SMART Domains

Protein: ENSMUSP00000127592
Gene: ENSMUSG00000071573

Domain	Start	End	E-Value	Type
PDB:3QJ4\|B	1	182	1e-92	PDB

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

90% (46/51)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933416I08Rik	TCC	TCCC	X: 52,692,862 (GRCm39)		noncoding transcript	Het
Adcy9	T	C	16: 4,235,930 (GRCm39)	T257A	possibly damaging	Het
Ahnak	A	G	19: 8,979,751 (GRCm39)	D345G	probably benign	Het
Ak5	A	G	3: 152,366,151 (GRCm39)		probably null	Het
Akap3	A	G	6: 126,843,379 (GRCm39)	K666R	probably damaging	Het
Alpk3	A	G	7: 80,743,657 (GRCm39)	N1158S	probably benign	Het
Atp23	A	T	10: 126,723,556 (GRCm39)	V182E	probably damaging	Het
Atp4a	A	G	7: 30,422,462 (GRCm39)	D898G	probably benign	Het
Bnip3	T	C	7: 138,496,208 (GRCm39)	N140S	probably damaging	Het
Bptf	T	C	11: 106,968,506 (GRCm39)	Y1059C	probably damaging	Het
Cacna1h	A	T	17: 25,610,118 (GRCm39)	I796N	probably damaging	Het
Ccnb2	A	G	9: 70,316,678 (GRCm39)		probably benign	Het
Cd3g	T	A	9: 44,882,061 (GRCm39)	D165V	probably damaging	Het
Cfap70	T	C	14: 20,498,676 (GRCm39)	T4A	probably benign	Het
Cilp	TGGG	TGG	9: 65,187,412 (GRCm39)		probably null	Het
Cntn4	C	T	6: 106,330,673 (GRCm39)	T97M	probably benign	Het
Crb1	CG	C	1: 139,164,824 (GRCm39)		probably null	Het
Crim1	C	T	17: 78,675,227 (GRCm39)	T812I	probably benign	Het
Csmd1	G	T	8: 15,995,127 (GRCm39)	T2636K	probably damaging	Het
Cyp39a1	T	A	17: 43,993,941 (GRCm39)	Y200*	probably null	Het
Dlg4	T	G	11: 69,933,028 (GRCm39)	I478S	probably damaging	Het
Dsc3	A	T	18: 20,107,105 (GRCm39)	N505K	probably benign	Het
Efhc1	T	C	1: 21,043,049 (GRCm39)	W323R	probably damaging	Het
Ehhadh	T	A	16: 21,581,520 (GRCm39)	I491L	probably benign	Het
Ggt6	T	G	11: 72,327,639 (GRCm39)	H148Q	possibly damaging	Het
Gstm3	T	C	3: 107,876,117 (GRCm39)	D25G	probably benign	Het
Gtf2h3	G	A	5: 124,740,231 (GRCm39)		probably benign	Het
Hjurp	TGGG	TTGCGGG	1: 88,194,002 (GRCm39)		probably benign	Het
Hnf4g	A	C	3: 3,716,674 (GRCm39)	E281A	probably damaging	Het
Impg1	T	G	9: 80,287,234 (GRCm39)	E404A	possibly damaging	Het
Kcna2	T	C	3: 107,012,715 (GRCm39)	V432A	probably benign	Het
Map3k2	T	G	18: 32,333,070 (GRCm39)	D81E	probably benign	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Mmp9	T	A	2: 164,792,726 (GRCm39)		probably null	Het
Mroh2a	G	A	1: 88,163,098 (GRCm39)	R376H	probably benign	Het
Ms4a1	G	T	19: 11,230,556 (GRCm39)	T215N	probably benign	Het
Pam16	T	C	16: 4,434,458 (GRCm39)	I111V	probably benign	Het
Pde6c	A	G	19: 38,166,719 (GRCm39)	T720A	probably damaging	Het
Pgap2	T	C	7: 101,885,434 (GRCm39)	L100P	probably damaging	Het
Ppl	T	A	16: 4,914,590 (GRCm39)	S686C	probably damaging	Het
Robo3	A	C	9: 37,333,824 (GRCm39)		probably null	Het
Rptn	G	A	3: 93,304,680 (GRCm39)	G671D	probably damaging	Het
Slc6a21	C	T	7: 44,937,592 (GRCm39)	Q628*	probably null	Het
Smg6	T	G	11: 74,823,252 (GRCm39)	I708S	probably damaging	Het
Speer4c1	A	C	5: 15,919,214 (GRCm39)		probably benign	Het
Thap1	C	G	8: 26,652,498 (GRCm39)	P79A	probably benign	Het
Vmn1r202	G	A	13: 22,685,640 (GRCm39)	T259I	probably benign	Het

Other mutations in Rnls

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00569:Rnls	APN	19	33,145,888 (GRCm39)	missense	probably benign	0.03
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
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

2016-08-02