Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01886:Riok3'

179149

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Riok3

Ensembl Gene

ENSMUSG00000024404

Gene Name

RIO kinase 3

Synonyms

Sudd, 1200013N13Rik, E130306C24Rik, D18Ertd331e

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.236) question?

Stock #

IGL01886

Quality Score

Status

Chromosome

Chromosomal Location

12128850-12157367 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 12139385 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 204 (N204K)

Ref Sequence

ENSEMBL: ENSMUSP00000025270 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000025270
AA Change: N204K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000025270
Gene: ENSMUSG00000024404
AA Change: N204K

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akt1	C	T	12: 112,659,158	V136M	probably benign	Het
Ankrd34c	A	T	9: 89,730,265	L8M	possibly damaging	Het
Anks6	C	A	4: 47,044,850	W352L	probably damaging	Het
Arhgap12	A	T	18: 6,027,613	N768K	probably damaging	Het
C130026I21Rik	A	G	1: 85,254,186		probably benign	Het
Clec7a	A	T	6: 129,463,177		probably benign	Het
Cyp3a13	G	A	5: 137,898,820	P411S	probably damaging	Het
Elavl2	A	G	4: 91,264,093	V129A	probably damaging	Het
Ercc6	T	A	14: 32,569,580	S994T	possibly damaging	Het
Esco1	T	A	18: 10,595,262	K8I	probably damaging	Het
Esr1	T	A	10: 4,856,861	I259K	probably damaging	Het
Filip1l	A	G	16: 57,571,250	I734V	possibly damaging	Het
Gm10717	C	T	9: 3,025,616	S67L	probably benign	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979	S144L	probably benign	Het
Grin3a	T	A	4: 49,702,814	I891F	probably damaging	Het
Kat7	T	C	11: 95,306,133	T27A	probably benign	Het
Kdm1a	A	G	4: 136,561,016		probably null	Het
Kifc5b	T	C	17: 26,932,117	V663A	probably damaging	Het
Lama1	T	G	17: 67,807,797	S2314A	probably benign	Het
Lrrc69	C	T	4: 14,703,984	V279I	probably benign	Het
Mast3	A	T	8: 70,782,139	L774Q	possibly damaging	Het
Med27	C	A	2: 29,413,482	P9Q	probably damaging	Het
Myo5a	C	A	9: 75,169,090		probably benign	Het
Myoz1	T	C	14: 20,655,309	K14E	probably damaging	Het
Neb	T	C	2: 52,183,845		probably benign	Het
Nlrp1a	T	C	11: 71,123,501	T308A	probably benign	Het
Olfr364-ps1	A	G	2: 37,146,509	Y99C	probably damaging	Het
Olfr926	G	T	9: 38,877,548	C124F	probably damaging	Het
Orc1	T	A	4: 108,603,957		probably null	Het
Pnkp	G	A	7: 44,862,207	A76T	probably damaging	Het
Polr3h	T	C	15: 81,917,390	E95G	probably damaging	Het
Prpf40b	T	A	15: 99,304,447	M62K	unknown	Het
Prpf8	C	A	11: 75,495,744	Q1075K	probably benign	Het
Ptprg	A	G	14: 12,179,280	K766E	probably benign	Het
Rabgap1l	A	T	1: 160,342,042	N778K	probably damaging	Het
Shank3	A	G	15: 89,531,663	K650E	probably damaging	Het
Sim1	T	A	10: 50,984,315	S758T	probably damaging	Het
Slu7	T	G	11: 43,439,260	N171K	probably damaging	Het
Sult6b2	A	G	6: 142,790,126		probably null	Het
Taf6l	C	T	19: 8,778,086		probably null	Het
Ubtfl1	G	A	9: 18,409,721	V182M	possibly damaging	Het
Vmn2r-ps159	C	T	4: 156,338,254		noncoding transcript	Het

Other mutations in Riok3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00159:Riok3	APN	18	12148891	missense	possibly damaging	0.81
IGL00229:Riok3	APN	18	12137020	missense	probably damaging	1.00
IGL00434:Riok3	APN	18	12148847	missense	probably damaging	1.00
IGL01348:Riok3	APN	18	12152963	splice site	probably benign
IGL02553:Riok3	APN	18	12143016	nonsense	probably null
IGL02622:Riok3	APN	18	12142960	missense	probably benign	0.24
IGL02718:Riok3	APN	18	12152996	nonsense	probably null
LCD18:Riok3	UTSW	18	12129982	intron	probably benign
R0240:Riok3	UTSW	18	12155227	missense	probably benign	0.37
R0359:Riok3	UTSW	18	12148949	missense	probably damaging	1.00
R1505:Riok3	UTSW	18	12152878	missense	probably benign	0.06
R1519:Riok3	UTSW	18	12137306	missense	probably damaging	1.00
R1698:Riok3	UTSW	18	12128929	missense	probably benign	0.02
R1710:Riok3	UTSW	18	12142961	missense	probably benign	0.24
R1965:Riok3	UTSW	18	12136962	missense	probably damaging	0.99
R2351:Riok3	UTSW	18	12149667	nonsense	probably null
R3705:Riok3	UTSW	18	12148954	missense	probably benign	0.07
R3914:Riok3	UTSW	18	12148822	missense	probably benign
R3956:Riok3	UTSW	18	12142974	nonsense	probably null
R4272:Riok3	UTSW	18	12135941	small deletion	probably benign
R4273:Riok3	UTSW	18	12135941	small deletion	probably benign
R4564:Riok3	UTSW	18	12148879	missense	probably damaging	0.99
R4589:Riok3	UTSW	18	12136787	missense	probably benign	0.06
R4729:Riok3	UTSW	18	12128927	missense	possibly damaging	0.82
R4751:Riok3	UTSW	18	12153983	missense	probably benign	0.00
R4938:Riok3	UTSW	18	12155243	missense	probably benign	0.06
R4945:Riok3	UTSW	18	12128915	missense	probably damaging	0.96
R5449:Riok3	UTSW	18	12155246	missense	probably damaging	0.97
R5928:Riok3	UTSW	18	12153018	missense	probably benign	0.16
R6220:Riok3	UTSW	18	12149551	missense	probably damaging	0.97
R7962:Riok3	UTSW	18	12136719	missense	probably benign
R8422:Riok3	UTSW	18	12136812	missense	probably null	1.00

Posted On

2014-05-07