Mutagenetix > Incidental Mutation

Incidental Mutation 'R1965:Riok3'

218327

Institutional Source

Beutler Lab

Gene Symbol

Riok3

Ensembl Gene

ENSMUSG00000024404

Gene Name

RIO kinase 3

Synonyms

1200013N13Rik, E130306C24Rik, D18Ertd331e, Sudd

MMRRC Submission

039978-MU

Accession Numbers

Essential gene?

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

Stock #

R1965 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

12261798-12290444 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 12270019 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 120 (H120Q)

Ref Sequence

ENSEMBL: ENSMUSP00000025270 (fasta)

Gene Model

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

AlphaFold

Q9DBU3

Predicted Effect

probably damaging
Transcript: ENSMUST00000025270
AA Change: H120Q

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000025270
Gene: ENSMUSG00000024404
AA Change: H120Q

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

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.6%

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aco1	T	G	4: 40,175,730 (GRCm39)	L157R	probably damaging	Het
Acot11	A	T	4: 106,606,550 (GRCm39)	L513Q	probably damaging	Het
Amd1	A	G	10: 40,170,755 (GRCm39)	I52T	probably benign	Het
Ap2b1	T	C	11: 83,237,721 (GRCm39)	I557T	probably benign	Het
Arel1	T	A	12: 84,987,173 (GRCm39)		probably null	Het
Arg1	T	A	10: 24,792,762 (GRCm39)		probably null	Het
Atf1	A	T	15: 100,152,052 (GRCm39)	M135L	probably benign	Het
Atf2	T	C	2: 73,681,242 (GRCm39)	E77G	possibly damaging	Het
Axin1	G	T	17: 26,403,199 (GRCm39)	A394S	probably damaging	Het
Axin1	A	T	17: 26,409,202 (GRCm39)	Q734L	probably damaging	Het
Brd8	G	C	18: 34,735,819 (GRCm39)	A886G	probably damaging	Het
Ccdc39	T	C	3: 33,880,629 (GRCm39)	K446R	probably damaging	Het
Celf3	T	C	3: 94,392,634 (GRCm39)	V35A	probably damaging	Het
Cfap299	T	A	5: 98,494,093 (GRCm39)	D32E	probably damaging	Het
Ckap2	T	C	8: 22,665,803 (GRCm39)	T415A	possibly damaging	Het
Crybg3	T	C	16: 59,323,600 (GRCm39)	Y1066C	probably damaging	Het
Csmd3	T	C	15: 47,713,144 (GRCm39)	H1506R	probably benign	Het
Dnah10	A	G	5: 124,852,267 (GRCm39)	D1808G	probably damaging	Het
Dsc3	C	T	18: 20,113,729 (GRCm39)	G398R	probably damaging	Het
Emc2	A	G	15: 43,390,863 (GRCm39)	Q293R	probably damaging	Het
Evc2	A	G	5: 37,520,876 (GRCm39)	N251D	possibly damaging	Het
Fam151a	A	T	4: 106,591,112 (GRCm39)		probably benign	Het
Fbxw16	T	A	9: 109,270,289 (GRCm39)	I151F	probably damaging	Het
Fmnl2	A	G	2: 53,004,880 (GRCm39)	D658G	probably damaging	Het
Fnip2	G	A	3: 79,400,779 (GRCm39)	T314I	probably benign	Het
Foxc2	T	A	8: 121,843,413 (GRCm39)	S20R	probably damaging	Het
Fpr-rs6	C	T	17: 20,402,918 (GRCm39)	G148R	probably damaging	Het
Fsip2	T	C	2: 82,823,124 (GRCm39)	S6286P	possibly damaging	Het
Fyb2	A	T	4: 104,770,846 (GRCm39)	I54F	probably benign	Het
Gbf1	T	C	19: 46,260,003 (GRCm39)	F999L	probably damaging	Het
Gldc	G	A	19: 30,114,513 (GRCm39)	R466*	probably null	Het
Gm12695	T	A	4: 96,651,082 (GRCm39)	S124C	probably benign	Het
Gm4846	A	T	1: 166,314,533 (GRCm39)	I370N	possibly damaging	Het
Gsdmc3	T	C	15: 63,730,296 (GRCm39)	T423A	probably damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Jarid2	T	A	13: 45,059,752 (GRCm39)	N661K	probably damaging	Het
Kcnmb3	T	C	3: 32,526,492 (GRCm39)	Y233C	probably damaging	Het
Kidins220	A	G	12: 25,044,905 (GRCm39)	D191G	probably damaging	Het
Kmt2a	A	G	9: 44,732,757 (GRCm39)		probably benign	Het
Krt1	T	C	15: 101,757,427 (GRCm39)	D261G	probably benign	Het
Lrba	A	G	3: 86,513,175 (GRCm39)		probably null	Het
Myo1f	C	T	17: 33,817,146 (GRCm39)	R730*	probably null	Het
Ncoa7	C	A	10: 30,530,426 (GRCm39)	E30*	probably null	Het
Neurod4	T	A	10: 130,106,918 (GRCm39)	K119*	probably null	Het
Npy5r	T	C	8: 67,133,929 (GRCm39)	D288G	probably benign	Het
Nr3c2	A	T	8: 77,636,092 (GRCm39)	I398L	probably damaging	Het
Or10a5	T	C	7: 106,635,565 (GRCm39)	S68P	probably damaging	Het
Or12j4	C	A	7: 140,046,574 (GRCm39)	F153L	probably benign	Het
Or4b1	T	C	2: 89,979,748 (GRCm39)	S201G	probably damaging	Het
Or4k35	T	C	2: 111,099,938 (GRCm39)	Y258C	probably damaging	Het
Or51v8	A	T	7: 103,320,103 (GRCm39)	I45N	probably damaging	Het
Or5g25	T	C	2: 85,478,090 (GRCm39)	T192A	possibly damaging	Het
Or5w8	A	G	2: 87,687,759 (GRCm39)	K80R	probably benign	Het
Or9m1b	A	G	2: 87,836,648 (GRCm39)	F149S	probably damaging	Het
P3r3urf	G	A	4: 116,031,376 (GRCm39)	C82Y	probably damaging	Het
Pcf11	A	T	7: 92,310,809 (GRCm39)	M393K	probably benign	Het
Pck2	T	C	14: 55,779,964 (GRCm39)	V71A	probably benign	Het
Pdzd8	G	T	19: 59,288,554 (GRCm39)	L949I	probably benign	Het
Pdzrn4	G	A	15: 92,644,190 (GRCm39)		probably null	Het
Phospho1	A	G	11: 95,721,705 (GRCm39)	N125S	probably damaging	Het
Pirb	A	T	7: 3,720,637 (GRCm39)	L287Q	probably benign	Het
Ppid	A	T	3: 79,509,606 (GRCm39)	K308*	probably null	Het
Ppp1r1b	A	G	11: 98,246,189 (GRCm39)	E57G	probably damaging	Het
Prtg	T	G	9: 72,755,604 (GRCm39)	S269A	probably benign	Het
Rbbp5	T	A	1: 132,422,035 (GRCm39)	S312T	probably damaging	Het
Rbm11	T	A	16: 75,395,656 (GRCm39)		probably null	Het
Retreg1	A	G	15: 25,970,250 (GRCm39)	T139A	probably damaging	Het
Rln1	A	T	19: 29,311,995 (GRCm39)	M1K	probably null	Het
Rpp30	C	T	19: 36,066,549 (GRCm39)	S94L	probably damaging	Het
Sccpdh	C	T	1: 179,511,879 (GRCm39)	P117L	probably damaging	Het
Serac1	T	C	17: 6,099,274 (GRCm39)	K506E	possibly damaging	Het
Serping1	G	T	2: 84,596,072 (GRCm39)	T454K	probably damaging	Het
Slc1a2	T	A	2: 102,570,245 (GRCm39)	N174K	probably damaging	Het
Slc2a2	A	G	3: 28,773,634 (GRCm39)	Q313R	probably damaging	Het
Slc46a2	T	A	4: 59,914,249 (GRCm39)	S225C	probably damaging	Het
Smarcc2	G	A	10: 128,310,627 (GRCm39)	E419K	probably damaging	Het
Stkld1	T	A	2: 26,836,744 (GRCm39)		probably null	Het
Szt2	A	G	4: 118,241,162 (GRCm39)	M1704T	probably benign	Het
Tasor	T	G	14: 27,164,511 (GRCm39)	C272W	probably damaging	Het
Tfcp2l1	C	T	1: 118,580,653 (GRCm39)	Q116*	probably null	Het
Timm44	A	G	8: 4,310,603 (GRCm39)	M383T	possibly damaging	Het
Tnpo2	G	A	8: 85,771,946 (GRCm39)		probably null	Het
Tnrc6b	A	G	15: 80,764,640 (GRCm39)	K714R	probably damaging	Het
Wdfy3	A	G	5: 102,099,178 (GRCm39)	L290P	probably damaging	Het
Wdr59	A	G	8: 112,177,709 (GRCm39)	F898L	probably damaging	Het
Zfp120	A	T	2: 149,959,318 (GRCm39)	C335S	probably damaging	Het
Zfp518a	T	C	19: 40,901,954 (GRCm39)	S628P	probably benign	Het
Zfp879	A	T	11: 50,724,355 (GRCm39)	C234S	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
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

Predicted Primers

PCR Primer
(F):5'- ATGCACAGCTTAGGCGTGAG -3'
(R):5'- AGTCATAAAGTCTTGCACTCAGC -3'

Sequencing Primer
(F):5'- CTTAGGCGTGAGGAAAAGAAGTTC -3'
(R):5'- TCAGCAAAACACTGGAGAAACATTG -3'

Posted On

2014-08-01