Mutagenetix > Incidental Mutation

Incidental Mutation 'R1519:Riok3'

167330

Institutional Source

Beutler Lab

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: 0.195) question?

Stock #

R1519 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

12128850-12157367 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 12137306 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 167 (D167G)

Ref Sequence

ENSEMBL: ENSMUSP00000025270 (fasta)

Gene Model

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

AlphaFold

Q9DBU3

Predicted Effect

probably damaging
Transcript: ENSMUST00000025270
AA Change: D167G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000025270
Gene: ENSMUSG00000024404
AA Change: D167G

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: 98.3%
10x: 96.4%
20x: 92.9%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	C	G	10: 100,603,528 (GRCm38)	P187R	probably damaging	Het
Abhd5	T	C	9: 122,379,014 (GRCm38)		probably null	Het
Acadvl	A	G	11: 70,014,791 (GRCm38)		probably null	Het
Actn1	T	C	12: 80,205,078 (GRCm38)	E75G	probably damaging	Het
Adam4	A	T	12: 81,420,877 (GRCm38)	N323K	possibly damaging	Het
Anks6	G	A	4: 47,027,152 (GRCm38)	R689W	probably damaging	Het
Anxa2	T	C	9: 69,485,241 (GRCm38)	I124T	probably damaging	Het
Aph1c	T	C	9: 66,833,265 (GRCm38)	T10A	probably benign	Het
Arhgap40	T	A	2: 158,546,801 (GRCm38)	W552R	probably benign	Het
Baz2b	C	T	2: 59,948,254 (GRCm38)	R754H	possibly damaging	Het
Blmh	A	G	11: 76,966,781 (GRCm38)	Y147C	probably damaging	Het
C1galt1	C	T	6: 7,866,402 (GRCm38)	L83F	probably damaging	Het
Ccdc168	A	G	1: 44,056,970 (GRCm38)	V1656A	probably benign	Het
Cdh23	A	T	10: 60,379,343 (GRCm38)	Y1403N	possibly damaging	Het
Cic	A	T	7: 25,293,810 (GRCm38)		probably null	Het
Coro1b	T	A	19: 4,150,584 (GRCm38)	V200D	possibly damaging	Het
Csl	T	A	10: 99,757,955 (GRCm38)	E416V	probably damaging	Het
Cyp3a25	A	G	5: 146,001,447 (GRCm38)		probably null	Het
Dennd2d	T	A	3: 106,492,559 (GRCm38)	F266Y	probably damaging	Het
Dnah10	A	G	5: 124,760,952 (GRCm38)	E1072G	probably damaging	Het
Dnah6	T	A	6: 73,049,048 (GRCm38)	K3435N	probably damaging	Het
Dnah9	G	A	11: 65,881,761 (GRCm38)	A3715V	probably damaging	Het
Fam186a	G	A	15: 99,947,655 (GRCm38)	S236L	unknown	Het
Frs3	A	G	17: 47,702,978 (GRCm38)	T199A	probably benign	Het
Fsd1	A	G	17: 55,993,870 (GRCm38)	N243S	probably benign	Het
Gabra5	A	C	7: 57,408,893 (GRCm38)	L369R	probably benign	Het
Gask1b	A	G	3: 79,941,464 (GRCm38)	N506D	possibly damaging	Het
Gins4	A	G	8: 23,234,776 (GRCm38)	V54A	probably benign	Het
Gli1	T	C	10: 127,334,269 (GRCm38)	E339G	possibly damaging	Het
Gm12185	A	G	11: 48,907,767 (GRCm38)	V633A	probably damaging	Het
Gpr83	T	A	9: 14,868,197 (GRCm38)	C182S	probably null	Het
Gspt1	A	G	16: 11,220,855 (GRCm38)	V627A	probably damaging	Het
Heatr1	T	C	13: 12,412,159 (GRCm38)	C722R	probably benign	Het
Jak1	C	T	4: 101,162,922 (GRCm38)	R680Q	probably damaging	Het
Kif2c	A	G	4: 117,169,940 (GRCm38)	V287A	probably damaging	Het
Kmo	A	G	1: 175,656,802 (GRCm38)	E366G	probably damaging	Het
Kmo	C	T	1: 175,651,618 (GRCm38)	P240L	possibly damaging	Het
Lepr	A	T	4: 101,789,344 (GRCm38)	N824I	probably damaging	Het
Lyrm7	T	A	11: 54,848,599 (GRCm38)	H75L	possibly damaging	Het
Map4k1	A	T	7: 28,991,036 (GRCm38)	Q351L	probably benign	Het
Matcap2	T	G	9: 22,430,375 (GRCm38)	L114R	probably benign	Het
Mgam	T	C	6: 40,661,683 (GRCm38)	I450T	probably benign	Het
Nbeal2	A	G	9: 110,636,305 (GRCm38)	L955P	probably damaging	Het
Nlrp9c	T	C	7: 26,378,101 (GRCm38)	K752R	possibly damaging	Het
Nsmaf	A	T	4: 6,438,062 (GRCm38)	I70K	probably benign	Het
Or14a257	A	G	7: 86,489,125 (GRCm38)	M142T	probably damaging	Het
Or5ac19	C	T	16: 59,268,944 (GRCm38)	C241Y	probably damaging	Het
Otud7a	A	G	7: 63,758,643 (GRCm38)	Y898C	probably damaging	Het
Pcdhb18	A	C	18: 37,490,892 (GRCm38)	D425A	probably damaging	Het
Prdm1	A	T	10: 44,439,986 (GRCm38)	L733*	probably null	Het
Prdm2	A	T	4: 143,135,583 (GRCm38)	I379N	probably damaging	Het
Ptprg	A	T	14: 12,220,596 (GRCm38)	Y436F	probably damaging	Het
Rnf215	G	T	11: 4,135,451 (GRCm38)	R60L	probably damaging	Het
Scart1	G	A	7: 140,228,156 (GRCm38)	V747I	probably benign	Het
Sdk1	A	T	5: 141,999,950 (GRCm38)	H779L	probably benign	Het
Serpine2	A	G	1: 79,795,031 (GRCm38)	F390L	probably damaging	Het
Sh3d21	T	A	4: 126,151,726 (GRCm38)	K387*	probably null	Het
Slc13a2	T	C	11: 78,397,746 (GRCm38)	Y568C	possibly damaging	Het
Slc27a5	T	C	7: 12,988,459 (GRCm38)		probably null	Het
Slc32a1	T	C	2: 158,614,577 (GRCm38)	L384P	probably damaging	Het
Sorcs1	T	C	19: 50,252,587 (GRCm38)	N454D	probably benign	Het
Spag8	T	C	4: 43,652,777 (GRCm38)	Y228C	possibly damaging	Het
Spata31e4	G	A	13: 50,700,407 (GRCm38)		probably null	Het
Spc25	T	C	2: 69,200,087 (GRCm38)	I71V	probably damaging	Het
Tcte1	T	A	17: 45,535,252 (GRCm38)	F261I	probably damaging	Het
Thsd7a	T	A	6: 12,471,175 (GRCm38)	K481N	probably benign	Het
Tll2	G	T	19: 41,086,400 (GRCm38)	N908K	probably benign	Het
Tmem236	T	C	2: 14,192,280 (GRCm38)	V93A	probably benign	Het
Top2b	G	A	14: 16,408,953 (GRCm38)		probably null	Het
Topaz1	G	A	9: 122,767,011 (GRCm38)	S949N	probably benign	Het
Triobp	A	G	15: 78,973,738 (GRCm38)	T1180A	probably benign	Het
Trip11	A	C	12: 101,886,160 (GRCm38)	D548E	probably benign	Het
Trpv2	T	A	11: 62,589,826 (GRCm38)		probably null	Het
Ulbp3	A	G	10: 3,125,230 (GRCm38)		noncoding transcript	Het
Vmn1r12	T	A	6: 57,159,555 (GRCm38)	H212Q	probably damaging	Het
Vmn2r112	A	G	17: 22,618,903 (GRCm38)	T782A	possibly damaging	Het
Vmn2r7	A	G	3: 64,716,455 (GRCm38)	V239A	possibly damaging	Het
Vmn2r80	T	A	10: 79,194,219 (GRCm38)	N626K	probably damaging	Het
Vmn2r99	A	G	17: 19,380,060 (GRCm38)	S449G	probably benign	Het
Wfikkn2	T	C	11: 94,238,107 (GRCm38)	T403A	probably benign	Het
Xirp2	A	G	2: 67,515,679 (GRCm38)	I2755V	probably benign	Het
Yjefn3	A	G	8: 69,889,079 (GRCm38)	V153A	probably benign	Het
Zfp677	C	A	17: 21,397,237 (GRCm38)	H185Q	possibly damaging	Het
Zfp947	C	T	17: 22,146,292 (GRCm38)	V134I	probably benign	Het

Other mutations in Riok3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00159:Riok3	APN	18	12,148,891 (GRCm38)	missense	possibly damaging	0.81
IGL00229:Riok3	APN	18	12,137,020 (GRCm38)	missense	probably damaging	1.00
IGL00434:Riok3	APN	18	12,148,847 (GRCm38)	missense	probably damaging	1.00
IGL01348:Riok3	APN	18	12,152,963 (GRCm38)	splice site	probably benign
IGL01886:Riok3	APN	18	12,139,385 (GRCm38)	missense	probably damaging	1.00
IGL02553:Riok3	APN	18	12,143,016 (GRCm38)	nonsense	probably null
IGL02622:Riok3	APN	18	12,142,960 (GRCm38)	missense	probably benign	0.24
IGL02718:Riok3	APN	18	12,152,996 (GRCm38)	nonsense	probably null
LCD18:Riok3	UTSW	18	12,129,982 (GRCm38)	intron	probably benign
R0240:Riok3	UTSW	18	12,155,227 (GRCm38)	missense	probably benign	0.37
R0359:Riok3	UTSW	18	12,148,949 (GRCm38)	missense	probably damaging	1.00
R1505:Riok3	UTSW	18	12,152,878 (GRCm38)	missense	probably benign	0.06
R1698:Riok3	UTSW	18	12,128,929 (GRCm38)	missense	probably benign	0.02
R1710:Riok3	UTSW	18	12,142,961 (GRCm38)	missense	probably benign	0.24
R1965:Riok3	UTSW	18	12,136,962 (GRCm38)	missense	probably damaging	0.99
R2351:Riok3	UTSW	18	12,149,667 (GRCm38)	nonsense	probably null
R3705:Riok3	UTSW	18	12,148,954 (GRCm38)	missense	probably benign	0.07
R3914:Riok3	UTSW	18	12,148,822 (GRCm38)	missense	probably benign
R3956:Riok3	UTSW	18	12,142,974 (GRCm38)	nonsense	probably null
R4272:Riok3	UTSW	18	12,135,941 (GRCm38)	small deletion	probably benign
R4273:Riok3	UTSW	18	12,135,941 (GRCm38)	small deletion	probably benign
R4564:Riok3	UTSW	18	12,148,879 (GRCm38)	missense	probably damaging	0.99
R4589:Riok3	UTSW	18	12,136,787 (GRCm38)	missense	probably benign	0.06
R4729:Riok3	UTSW	18	12,128,927 (GRCm38)	missense	possibly damaging	0.82
R4751:Riok3	UTSW	18	12,153,983 (GRCm38)	missense	probably benign	0.00
R4938:Riok3	UTSW	18	12,155,243 (GRCm38)	missense	probably benign	0.06
R4945:Riok3	UTSW	18	12,128,915 (GRCm38)	missense	probably damaging	0.96
R5449:Riok3	UTSW	18	12,155,246 (GRCm38)	missense	probably damaging	0.97
R5928:Riok3	UTSW	18	12,153,018 (GRCm38)	missense	probably benign	0.16
R6220:Riok3	UTSW	18	12,149,551 (GRCm38)	missense	probably damaging	0.97
R7962:Riok3	UTSW	18	12,136,719 (GRCm38)	missense	probably benign
R8422:Riok3	UTSW	18	12,136,812 (GRCm38)	missense	probably null	1.00
R9194:Riok3	UTSW	18	12,149,585 (GRCm38)	frame shift	probably null
R9195:Riok3	UTSW	18	12,149,585 (GRCm38)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- GACCTAATGCTGGCTCAGATGCTAC -3'
(R):5'- ACCAGAATGCTGCTGGCTTGTG -3'

Sequencing Primer
(F):5'- CCTTTTGAAGACAGTGACAGCTC -3'
(R):5'- gtgtttttgtgttcattatgtagcc -3'

Posted On

2014-04-13