Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00229:Riok3'

2069

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

Essential gene?

Probably non essential (E-score: 0.200) question?

Stock #

IGL00229

Quality Score

Status

Chromosome

Chromosomal Location

12128850-12157367 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 12137020 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 140 (D140N)

Ref Sequence

ENSEMBL: ENSMUSP00000025270 (fasta)

Gene Model

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

AlphaFold

Q9DBU3

Predicted Effect

probably damaging
Transcript: ENSMUST00000025270
AA Change: D140N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000025270
Gene: ENSMUSG00000024404
AA Change: D140N

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	A	G	13: 63,199,500		probably benign	Het
9030624J02Rik	T	A	7: 118,804,191		probably benign	Het
Abca4	A	G	3: 122,170,954	T929A	probably damaging	Het
Adam6b	G	A	12: 113,491,393	R610H	probably damaging	Het
Adamts12	T	A	15: 11,311,599	M1314K	probably benign	Het
Alg6	T	A	4: 99,753,054	F152I	probably damaging	Het
Arid5b	A	G	10: 68,128,975	S289P	probably damaging	Het
Axin1	T	C	17: 26,194,072	F780L	probably damaging	Het
C87499	A	G	4: 88,629,053	I214T	probably damaging	Het
C9	C	T	15: 6,483,231	S278L	possibly damaging	Het
Calr4	A	T	4: 109,244,115	I65F	probably damaging	Het
Cdh23	A	G	10: 60,523,548	V260A	probably benign	Het
Ddx25	T	C	9: 35,543,595		probably benign	Het
Dppa4	A	G	16: 48,291,083	T92A	possibly damaging	Het
Ercc5	T	C	1: 44,163,898	Y232H	probably damaging	Het
Exoc4	A	G	6: 33,918,399		probably null	Het
Fam149a	A	G	8: 45,351,786	V253A	probably damaging	Het
Fam209	C	T	2: 172,474,182	T159I	probably damaging	Het
Gcfc2	A	T	6: 81,936,015	N265I	probably damaging	Het
Glud1	T	C	14: 34,336,130	V366A	probably benign	Het
Hdac10	T	C	15: 89,128,442	T3A	probably damaging	Het
Ifnar1	T	C	16: 91,489,782	S54P	probably damaging	Het
Itpr2	T	C	6: 146,144,185	Y2561C	probably damaging	Het
Klhl30	A	G	1: 91,354,157	E160G	possibly damaging	Het
Kmt2d	A	T	15: 98,862,333	S1015T	unknown	Het
Lactb2	A	G	1: 13,660,374	M26T	probably damaging	Het
Lactbl1	A	T	4: 136,631,051	D111V	probably damaging	Het
Lig4	T	C	8: 9,972,775	Y335C	probably damaging	Het
Lrrc8e	T	A	8: 4,235,921	D715E	probably benign	Het
Med6	A	T	12: 81,579,574	V142D	possibly damaging	Het
Men1	G	A	19: 6,337,207		probably null	Het
Mettl13	A	G	1: 162,535,865	V600A	possibly damaging	Het
Mpdz	A	T	4: 81,310,224	C1314*	probably null	Het
Nbeal2	A	G	9: 110,635,869	V1009A	probably damaging	Het
Nmur2	A	G	11: 56,040,777	L36P	probably damaging	Het
Nudt2	T	A	4: 41,480,474	L119Q	probably damaging	Het
Olfr1472	T	C	19: 13,453,840	M226V	possibly damaging	Het
Osbpl3	C	T	6: 50,323,068	E519K	probably damaging	Het
Pak6	A	T	2: 118,689,845	T106S	possibly damaging	Het
Pggt1b	T	G	18: 46,280,719	Q34P	probably benign	Het
Phactr4	T	C	4: 132,370,992	T322A	possibly damaging	Het
Plekhj1	T	C	10: 80,796,602		probably null	Het
Pnpt1	T	C	11: 29,154,217		probably null	Het
Prr14l	T	C	5: 32,830,676	I492V	probably benign	Het
Ranbp2	C	A	10: 58,477,256	A1266E	probably damaging	Het
Rsph4a	G	A	10: 33,914,343	E643K	probably damaging	Het
Scara3	T	G	14: 65,933,121	E103A	probably benign	Het
Sgk3	T	C	1: 9,868,384	V33A	probably damaging	Het
Slc38a4	A	G	15: 96,999,494	F480S	probably damaging	Het
Slc44a1	G	A	4: 53,543,571	V372M	probably damaging	Het
Slc9a2	A	G	1: 40,767,737	Y728C	probably benign	Het
Sox4	C	A	13: 28,952,973	G17W	probably damaging	Het
Spidr	A	T	16: 15,895,578	L847Q	probably damaging	Het
Sptb	A	G	12: 76,620,753	S857P	probably benign	Het
Syde1	A	G	10: 78,585,809	V636A	probably damaging	Het
Syna	A	G	5: 134,559,717	L126P	possibly damaging	Het
Taar2	A	G	10: 23,941,368	T269A	possibly damaging	Het
Tapbp	C	T	17: 33,925,704	T258I	probably damaging	Het
Tcf20	T	A	15: 82,857,142	Q36L	possibly damaging	Het
Tmem131l	A	T	3: 83,942,500	M260K	probably damaging	Het
Tnc	T	A	4: 64,016,824		probably benign	Het
Ugp2	T	A	11: 21,354,345	E27D	probably benign	Het
Wdr27	A	T	17: 14,928,310	C140*	probably null	Het
Wnt2b	T	C	3: 104,953,133	T153A	possibly damaging	Het
Xirp2	A	T	2: 67,513,375	T1987S	probably benign	Het
Zfp36l1	C	A	12: 80,110,464	G48C	probably damaging	Het
Zfp474	A	T	18: 52,638,493	I73F	possibly damaging	Het
Zfp790	T	A	7: 29,828,563	F224L	probably benign	Het

Other mutations in Riok3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00159:Riok3	APN	18	12148891	missense	possibly damaging	0.81
IGL00434:Riok3	APN	18	12148847	missense	probably damaging	1.00
IGL01348:Riok3	APN	18	12152963	splice site	probably benign
IGL01886:Riok3	APN	18	12139385	missense	probably damaging	1.00
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
R9194:Riok3	UTSW	18	12149585	frame shift	probably null
R9195:Riok3	UTSW	18	12149585	frame shift	probably null

Posted On

2011-12-09