Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02622:Riok3'

300916

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Riok3

Ensembl Gene

ENSMUSG00000024404

Gene Name

RIO kinase 3

Synonyms

1200013N13Rik, E130306C24Rik, D18Ertd331e, Sudd

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.186) question?

Stock #

IGL02622

Quality Score

Status

Chromosome

Chromosomal Location

12261798-12290444 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 12276017 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 238 (R238C)

Ref Sequence

ENSEMBL: ENSMUSP00000025270 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025270]

AlphaFold

Q9DBU3

Predicted Effect

probably benign
Transcript: ENSMUST00000025270
AA Change: R238C

PolyPhen 2 Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000025270
Gene: ENSMUSG00000024404
AA Change: R238C

Domain	Start	End	E-Value	Type
low complexity region	41	63	N/A	INTRINSIC
low complexity region	123	131	N/A	INTRINSIC
RIO	222	470	9.88e-141	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was first identified by the similarity of its product to the Aspergillus nidulans SUDD protein. This gene is now recognized as a member of the right open reading frame (RIO) kinase gene family. This gene encodes a serine/threonine kinase that localizes to the cytoplasm and plays a role in the processing of the pre-40 S ribosomal subunit. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2017]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	C	T	5: 109,887,101 (GRCm39)	V32M	possibly damaging	Het
Abca1	T	C	4: 53,034,046 (GRCm39)	D2228G	probably damaging	Het
Actr5	A	G	2: 158,480,728 (GRCm39)	K582R	probably benign	Het
Armc8	T	C	9: 99,409,122 (GRCm39)		probably benign	Het
Atp7b	T	C	8: 22,518,454 (GRCm39)	D128G	possibly damaging	Het
Cemip	C	A	7: 83,613,383 (GRCm39)	G605V	probably damaging	Het
Cep112	A	G	11: 108,409,509 (GRCm39)	H133R	probably benign	Het
Cops3	C	T	11: 59,723,864 (GRCm39)	D98N	probably benign	Het
Crlf3	T	C	11: 79,950,150 (GRCm39)	D160G	probably damaging	Het
Csn1s1	T	C	5: 87,825,501 (GRCm39)		probably null	Het
Ddx60	C	A	8: 62,395,470 (GRCm39)		probably null	Het
Depdc1a	T	A	3: 159,221,147 (GRCm39)	N159K	probably benign	Het
Dsg3	A	T	18: 20,662,004 (GRCm39)		probably benign	Het
Eif4g3	A	C	4: 137,824,677 (GRCm39)		probably benign	Het
Ercc6l2	T	A	13: 64,001,437 (GRCm39)		probably null	Het
Fbxw19	T	A	9: 109,322,602 (GRCm39)	M123L	probably benign	Het
Fus	T	A	7: 127,584,794 (GRCm39)	L100H	probably damaging	Het
Gm29247	A	G	1: 44,146,269 (GRCm39)		probably benign	Het
Gucy2e	T	C	11: 69,115,857 (GRCm39)	T842A	probably damaging	Het
Inpp4a	A	T	1: 37,418,115 (GRCm39)	Q519L	probably benign	Het
Kcnip1	C	A	11: 33,593,290 (GRCm39)		probably benign	Het
Lyst	T	A	13: 13,855,975 (GRCm39)	L2432H	probably damaging	Het
Mastl	A	G	2: 23,022,857 (GRCm39)	V622A	probably benign	Het
Myh15	A	G	16: 48,997,317 (GRCm39)	T1712A	probably benign	Het
Nlrp1a	T	C	11: 71,013,826 (GRCm39)	T475A	possibly damaging	Het
Nr4a3	G	A	4: 48,051,649 (GRCm39)	M134I	probably benign	Het
Or2a56	T	G	6: 42,932,663 (GRCm39)	V77G	probably damaging	Het
Or52m1	T	A	7: 102,290,290 (GRCm39)	L279Q	probably damaging	Het
Or5p60	T	A	7: 107,723,595 (GRCm39)	I292F	probably damaging	Het
Paqr6	T	G	3: 88,273,085 (GRCm39)	I52S	probably damaging	Het
Pcdhb4	T	A	18: 37,442,721 (GRCm39)	L677Q	probably benign	Het
Phax	C	T	18: 56,717,372 (GRCm39)	R250*	probably null	Het
Pkn3	A	G	2: 29,973,158 (GRCm39)	D356G	probably benign	Het
Pnpla2	T	C	7: 141,035,285 (GRCm39)	L29P	probably damaging	Het
Rad18	G	A	6: 112,664,948 (GRCm39)	T62I	probably damaging	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Sccpdh	G	T	1: 179,504,025 (GRCm39)	G125W	probably damaging	Het
Skint11	T	A	4: 114,051,925 (GRCm39)	L91H	probably damaging	Het
Slc25a45	A	G	19: 5,928,725 (GRCm39)		probably benign	Het
Slco2a1	C	T	9: 102,954,128 (GRCm39)	Q370*	probably null	Het
Szt2	A	G	4: 118,250,087 (GRCm39)	S474P	probably damaging	Het
Tchh	C	A	3: 93,350,719 (GRCm39)	T53K	probably damaging	Het
Tiam1	T	C	16: 89,595,588 (GRCm39)	T1298A	possibly damaging	Het
Tmem161a	C	T	8: 70,633,887 (GRCm39)	Q183*	probably null	Het
Trim26	C	A	17: 37,161,797 (GRCm39)	A72E	probably damaging	Het
Trmt11	A	T	10: 30,435,169 (GRCm39)	I330K	probably benign	Het
Tspan1	A	G	4: 116,021,052 (GRCm39)		probably benign	Het
Ubr4	C	A	4: 139,194,561 (GRCm39)	C4286*	probably null	Het
Unc13a	T	C	8: 72,105,158 (GRCm39)		probably null	Het
Vmn1r20	T	A	6: 57,409,583 (GRCm39)	F303Y	probably damaging	Het
Washc2	T	C	6: 116,190,979 (GRCm39)		probably benign	Het
Xab2	C	T	8: 3,661,699 (GRCm39)	D585N	probably benign	Het
Ythdc2	C	T	18: 44,993,001 (GRCm39)	L791F	probably damaging	Het
Zfp319	C	A	8: 96,055,589 (GRCm39)	V205F	probably damaging	Het
Zscan25	A	T	5: 145,227,512 (GRCm39)	H392L	probably damaging	Het
Zswim6	A	T	13: 107,884,786 (GRCm39)		noncoding transcript	Het

Other mutations in Riok3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00159:Riok3	APN	18	12,281,948 (GRCm39)	missense	possibly damaging	0.81
IGL00229:Riok3	APN	18	12,270,077 (GRCm39)	missense	probably damaging	1.00
IGL00434:Riok3	APN	18	12,281,904 (GRCm39)	missense	probably damaging	1.00
IGL01348:Riok3	APN	18	12,286,020 (GRCm39)	splice site	probably benign
IGL01886:Riok3	APN	18	12,272,442 (GRCm39)	missense	probably damaging	1.00
IGL02553:Riok3	APN	18	12,276,073 (GRCm39)	nonsense	probably null
IGL02718:Riok3	APN	18	12,286,053 (GRCm39)	nonsense	probably null
LCD18:Riok3	UTSW	18	12,263,039 (GRCm39)	intron	probably benign
R0240:Riok3	UTSW	18	12,288,284 (GRCm39)	missense	probably benign	0.37
R0359:Riok3	UTSW	18	12,282,006 (GRCm39)	missense	probably damaging	1.00
R1505:Riok3	UTSW	18	12,285,935 (GRCm39)	missense	probably benign	0.06
R1519:Riok3	UTSW	18	12,270,363 (GRCm39)	missense	probably damaging	1.00
R1698:Riok3	UTSW	18	12,261,986 (GRCm39)	missense	probably benign	0.02
R1710:Riok3	UTSW	18	12,276,018 (GRCm39)	missense	probably benign	0.24
R1965:Riok3	UTSW	18	12,270,019 (GRCm39)	missense	probably damaging	0.99
R2351:Riok3	UTSW	18	12,282,724 (GRCm39)	nonsense	probably null
R3705:Riok3	UTSW	18	12,282,011 (GRCm39)	missense	probably benign	0.07
R3914:Riok3	UTSW	18	12,281,879 (GRCm39)	missense	probably benign
R3956:Riok3	UTSW	18	12,276,031 (GRCm39)	nonsense	probably null
R4272:Riok3	UTSW	18	12,268,998 (GRCm39)	small deletion	probably benign
R4273:Riok3	UTSW	18	12,268,998 (GRCm39)	small deletion	probably benign
R4564:Riok3	UTSW	18	12,281,936 (GRCm39)	missense	probably damaging	0.99
R4589:Riok3	UTSW	18	12,269,844 (GRCm39)	missense	probably benign	0.06
R4729:Riok3	UTSW	18	12,261,984 (GRCm39)	missense	possibly damaging	0.82
R4751:Riok3	UTSW	18	12,287,040 (GRCm39)	missense	probably benign	0.00
R4938:Riok3	UTSW	18	12,288,300 (GRCm39)	missense	probably benign	0.06
R4945:Riok3	UTSW	18	12,261,972 (GRCm39)	missense	probably damaging	0.96
R5449:Riok3	UTSW	18	12,288,303 (GRCm39)	missense	probably damaging	0.97
R5928:Riok3	UTSW	18	12,286,075 (GRCm39)	missense	probably benign	0.16
R6220:Riok3	UTSW	18	12,282,608 (GRCm39)	missense	probably damaging	0.97
R7962:Riok3	UTSW	18	12,269,776 (GRCm39)	missense	probably benign
R8422:Riok3	UTSW	18	12,269,869 (GRCm39)	missense	probably null	1.00
R9194:Riok3	UTSW	18	12,282,642 (GRCm39)	frame shift	probably null
R9195:Riok3	UTSW	18	12,282,642 (GRCm39)	frame shift	probably null

Posted On

2015-04-16