Mutagenetix > Incidental Mutation

Incidental Mutation 'R4564:Riok3'

343271

Institutional Source

Beutler Lab

Gene Symbol

Riok3

Ensembl Gene

ENSMUSG00000024404

Gene Name

RIO kinase 3

Synonyms

1200013N13Rik, E130306C24Rik, D18Ertd331e, Sudd

MMRRC Submission

041789-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.184) question?

Stock #

R4564 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

12261798-12290444 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 12281936 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 302 (R302S)

Ref Sequence

ENSEMBL: ENSMUSP00000025270 (fasta)

Gene Model

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

AlphaFold

Q9DBU3

Predicted Effect

probably damaging
Transcript: ENSMUST00000025270
AA Change: R302S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000025270
Gene: ENSMUSG00000024404
AA Change: R302S

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

Meta Mutation Damage Score

0.9595

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

97% (58/60)

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
Atad3a	C	T	4: 155,831,766 (GRCm39)		probably null	Het
Bach2	T	G	4: 32,563,338 (GRCm39)	S602A	probably damaging	Het
Ccl19	G	T	4: 42,756,295 (GRCm39)	S12R	probably damaging	Het
Cfap54	T	C	10: 92,675,402 (GRCm39)		probably benign	Het
Cndp1	T	A	18: 84,640,411 (GRCm39)	I265F	probably damaging	Het
Cnot3	G	A	7: 3,656,257 (GRCm39)	R181H	probably damaging	Het
Dicer1	T	A	12: 104,671,010 (GRCm39)	K1011*	probably null	Het
Dip2b	G	A	15: 100,055,139 (GRCm39)	W99*	probably null	Het
Fpr-rs6	A	T	17: 20,403,168 (GRCm39)	Y64*	probably null	Het
Fubp1	C	A	3: 151,928,573 (GRCm39)	Y480*	probably null	Het
Gfra1	T	C	19: 58,227,682 (GRCm39)		probably null	Het
Gm10770	T	C	2: 150,020,831 (GRCm39)	T229A	probably benign	Het
Gm826	A	C	2: 160,153,913 (GRCm39)		probably benign	Het
Gpd2	G	A	2: 57,197,095 (GRCm39)	V217I	possibly damaging	Het
Hectd4	T	C	5: 121,488,494 (GRCm39)	I3595T	probably benign	Het
Lmln	A	G	16: 32,930,226 (GRCm39)	E561G	probably benign	Het
Lrrc71	T	A	3: 87,652,715 (GRCm39)		probably benign	Het
Man2a2	T	A	7: 80,018,586 (GRCm39)	Y91F	probably benign	Het
Map4k4	A	G	1: 40,028,135 (GRCm39)	T319A	probably damaging	Het
Mcm6	G	T	1: 128,271,196 (GRCm39)	H474Q	probably damaging	Het
Mn1	C	G	5: 111,568,533 (GRCm39)	N834K	possibly damaging	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Niban3	T	C	8: 72,057,704 (GRCm39)		probably benign	Het
Npas2	A	G	1: 39,326,647 (GRCm39)	D44G	probably damaging	Het
Npc1	C	T	18: 12,324,789 (GRCm39)	G1235R	probably damaging	Het
Olfml2a	C	T	2: 38,850,306 (GRCm39)	T674I	probably benign	Het
Or4f58	A	G	2: 111,852,112 (GRCm39)	L29P	possibly damaging	Het
Pgap6	A	G	17: 26,336,837 (GRCm39)	R252G	possibly damaging	Het
Plxnb1	C	T	9: 108,942,488 (GRCm39)	A1779V	probably benign	Het
Ppil3	T	A	1: 58,470,481 (GRCm39)	D123V	probably damaging	Het
Prr23a3	A	G	9: 98,747,190 (GRCm39)	E48G	probably damaging	Het
Prr5l	T	C	2: 101,577,094 (GRCm39)	E110G	probably damaging	Het
Ptgir	A	G	7: 16,640,794 (GRCm39)	M29V	possibly damaging	Het
R3hdm1	C	T	1: 128,149,396 (GRCm39)	T839M	probably benign	Het
Rasgrf2	G	A	13: 92,033,773 (GRCm39)	Q544*	probably null	Het
Rnf145	A	G	11: 44,439,635 (GRCm39)	K144E	probably benign	Het
Sin3b	A	C	8: 73,480,209 (GRCm39)	T904P	probably damaging	Het
Skint4	C	T	4: 111,977,066 (GRCm39)	T152M	probably damaging	Het
Slc22a2	A	G	17: 12,828,943 (GRCm39)	I350V	probably benign	Het
Slc6a11	G	T	6: 114,108,323 (GRCm39)	G29V	probably benign	Het
Speg	A	C	1: 75,368,478 (GRCm39)	H676P	probably damaging	Het
St6gal2	T	A	17: 55,789,648 (GRCm39)	H227Q	probably damaging	Het
Strn3	A	G	12: 51,680,404 (GRCm39)	S399P	probably benign	Het
Tbc1d1	A	G	5: 64,330,827 (GRCm39)	E2G	probably damaging	Het
Tecpr2	T	A	12: 110,921,219 (GRCm39)	M1264K	probably benign	Het
Trpm6	T	C	19: 18,809,961 (GRCm39)	L1119P	possibly damaging	Het
Upf2	A	C	2: 6,032,123 (GRCm39)	T890P	unknown	Het
Upk1b	T	A	16: 38,600,469 (GRCm39)	K170N	probably benign	Het
Vmn1r78	A	T	7: 11,886,485 (GRCm39)	Y32F	probably damaging	Het
Vps11	A	G	9: 44,272,894 (GRCm39)	F12S	probably damaging	Het
Zfp318	T	A	17: 46,723,741 (GRCm39)	C1915S	possibly damaging	Het
Zfp346	A	C	13: 55,261,520 (GRCm39)	R103S	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGGCAAAACAGTGGCACCTG -3'
(R):5'- GGCTTAAATGACAGCATGGATCTTG -3'

Sequencing Primer
(F):5'- CACCTGAAACAAAGTAGGTGTACTTG -3'
(R):5'- ACAGCATGGATCTTGGCCTG -3'

Posted On

2015-09-24