Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02718:Riok3'

304838

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: 0.184) question?

Stock #

IGL02718

Quality Score

Status

Chromosome

Chromosomal Location

12261798-12290444 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 12286053 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Stop codon at position 427 (S427*)

Ref Sequence

ENSEMBL: ENSMUSP00000025270 (fasta)

Gene Model

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

AlphaFold

Q9DBU3

Predicted Effect

probably null
Transcript: ENSMUST00000025270
AA Change: S427*

SMART Domains

Protein: ENSMUSP00000025270
Gene: ENSMUSG00000024404
AA Change: S427*

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002J24Rik	A	G	7: 30,399,329 (GRCm39)	D41G	probably damaging	Het
2210408I21Rik	T	A	13: 77,322,991 (GRCm39)	Y7N	probably damaging	Het
Atf1	C	A	15: 100,152,100 (GRCm39)	Q151K	probably damaging	Het
Brdt	T	C	5: 107,497,934 (GRCm39)		probably benign	Het
Cep295	T	C	9: 15,237,049 (GRCm39)		probably null	Het
Ctnnd2	A	G	15: 31,027,762 (GRCm39)	S1229G	probably damaging	Het
Dcaf15	T	A	8: 84,825,005 (GRCm39)	I476L	possibly damaging	Het
Dlec1	A	G	9: 118,966,354 (GRCm39)	I1108V	probably benign	Het
Dnah9	T	A	11: 65,777,466 (GRCm39)	H3694L	probably damaging	Het
Dock10	A	T	1: 80,501,535 (GRCm39)	D1838E	probably benign	Het
Dusp12	A	T	1: 170,708,226 (GRCm39)	Y164N	probably damaging	Het
Ephx1	A	G	1: 180,827,351 (GRCm39)	F101L	probably damaging	Het
Fbn1	C	A	2: 125,211,806 (GRCm39)	C864F	probably damaging	Het
Fbxw24	T	C	9: 109,453,858 (GRCm39)	E96G	possibly damaging	Het
Glt1d1	C	A	5: 127,727,763 (GRCm39)	F78L	probably damaging	Het
Gm9602	A	T	14: 15,932,620 (GRCm39)	R21*	probably null	Het
Grip1	T	A	10: 119,911,420 (GRCm39)	*713K	probably null	Het
Hecw1	T	C	13: 14,481,520 (GRCm39)		probably null	Het
Il31ra	G	A	13: 112,666,903 (GRCm39)	R392*	probably null	Het
L3hypdh	T	G	12: 72,131,630 (GRCm39)	S101R	probably damaging	Het
Lpar5	T	A	6: 125,059,207 (GRCm39)	D309E	probably damaging	Het
Masp1	T	C	16: 23,295,043 (GRCm39)	Y406C	probably damaging	Het
Mpdz	T	C	4: 81,303,439 (GRCm39)	I166M	probably damaging	Het
Nbea	A	T	3: 55,539,483 (GRCm39)	Y2759*	probably null	Het
Ncf1	A	T	5: 134,256,302 (GRCm39)		probably null	Het
Nek5	T	G	8: 22,587,479 (GRCm39)	R314S	probably benign	Het
Nifk	A	C	1: 118,255,362 (GRCm39)	N38T	probably damaging	Het
Obscn	C	T	11: 58,968,684 (GRCm39)	V2772M	probably damaging	Het
Or10g9	A	T	9: 39,912,182 (GRCm39)	Y114N	probably damaging	Het
Or10z1	G	T	1: 174,078,273 (GRCm39)	Y73*	probably null	Het
Or2b28	T	C	13: 21,531,554 (GRCm39)	L152P	probably damaging	Het
Or2d3	A	T	7: 106,490,536 (GRCm39)	M260K	probably damaging	Het
Or52r1c	C	A	7: 102,734,790 (GRCm39)	L22I	probably benign	Het
Or5k17	T	C	16: 58,746,459 (GRCm39)	I158M	possibly damaging	Het
Pbxip1	A	G	3: 89,355,311 (GRCm39)	E610G	probably damaging	Het
Pfas	G	T	11: 68,890,971 (GRCm39)		probably benign	Het
Plk4	T	C	3: 40,769,456 (GRCm39)	S102P	probably damaging	Het
Ptprz1	C	T	6: 23,001,348 (GRCm39)	T1146I	possibly damaging	Het
Pum2	T	A	12: 8,783,344 (GRCm39)	S598T	probably benign	Het
Ric1	T	A	19: 29,510,640 (GRCm39)	W74R	probably damaging	Het
Ros1	A	T	10: 51,994,328 (GRCm39)	D1317E	probably damaging	Het
Sfmbt2	A	G	2: 10,406,842 (GRCm39)	D47G	possibly damaging	Het
Slc12a1	C	T	2: 125,002,999 (GRCm39)	R177*	probably null	Het
Snai3	C	A	8: 123,182,861 (GRCm39)		probably null	Het
Snx19	A	G	9: 30,343,556 (GRCm39)	N572S	possibly damaging	Het
Soat1	A	T	1: 156,268,999 (GRCm39)	S151T	probably benign	Het
Spmip4	G	T	6: 50,561,367 (GRCm39)	T184K	probably damaging	Het
Stbd1	A	G	5: 92,751,077 (GRCm39)	E37G	possibly damaging	Het
Syt10	A	G	15: 89,698,282 (GRCm39)	I354T	probably damaging	Het
Trip11	A	C	12: 101,852,284 (GRCm39)	S593R	probably benign	Het
Ubr1	T	C	2: 120,745,364 (GRCm39)	E908G	probably damaging	Het
Yy1	T	C	12: 108,781,405 (GRCm39)	F357L	probably damaging	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
IGL02622:Riok3	APN	18	12,276,017 (GRCm39)	missense	probably benign	0.24
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