Mutagenetix > Incidental Mutation

Incidental Mutation 'R8207:Riok1'

635975

Institutional Source

Beutler Lab

Gene Symbol

Riok1

Ensembl Gene

ENSMUSG00000021428

Gene Name

RIO kinase 1

Synonyms

3110046C13Rik, 5430416A05Rik

MMRRC Submission

067630-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

R8207 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38220971-38245409 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 38236296 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 347 (H347Q)

Ref Sequence

ENSEMBL: ENSMUSP00000021866 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021866]

AlphaFold

Q922Q2

Predicted Effect

probably damaging
Transcript: ENSMUST00000021866
AA Change: H347Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000021866
Gene: ENSMUSG00000021428
AA Change: H347Q

Domain	Start	End	E-Value	Type
low complexity region	54	75	N/A	INTRINSIC
RIO	150	386	5.1e-134	SMART
Blast:RIO	465	531	4e-12	BLAST
low complexity region	551	567	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (49/49)

MGI Phenotype

FUNCTION: This gene encodes a member of the RIO family of atypical serine protein kinases. A similar protein in humans is a component of the protein arginine methyltransferase 5 complex that specifically recruits the RNA-binding protein nucleolin as a methylation substrate. [provided by RefSeq, Feb 2011]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aen	G	A	7: 78,552,491 (GRCm39)	M150I	possibly damaging	Het
Arhgef11	A	G	3: 87,606,082 (GRCm39)	N279S	possibly damaging	Het
Arid3a	T	C	10: 79,786,760 (GRCm39)		probably null	Het
Casp8ap2	A	G	4: 32,646,446 (GRCm39)	T1840A	possibly damaging	Het
Ccdc14	T	A	16: 34,525,413 (GRCm39)	N235K	possibly damaging	Het
Cdh20	T	C	1: 109,922,076 (GRCm39)	V56A	probably damaging	Het
Clec16a	G	A	16: 10,512,574 (GRCm39)	R837H	probably damaging	Het
Clec16a	A	G	16: 10,445,312 (GRCm39)	N518S	probably benign	Het
Cog7	T	C	7: 121,576,515 (GRCm39)	D137G	possibly damaging	Het
Cpt1b	T	C	15: 89,303,018 (GRCm39)	T649A	probably damaging	Het
Efcab8	C	G	2: 153,631,145 (GRCm39)	L192V	probably damaging	Het
Farp2	A	G	1: 93,548,965 (GRCm39)	R1024G	probably benign	Het
Flvcr2	GTAGTGTATA	GTA	12: 85,849,922 (GRCm39)		probably null	Het
Fmo1	T	A	1: 162,677,676 (GRCm39)	T147S	probably benign	Het
Fryl	A	C	5: 73,257,843 (GRCm39)		probably null	Het
Galnt13	A	C	2: 54,770,122 (GRCm39)	I305L	probably benign	Het
Guca2a	A	G	4: 119,494,951 (GRCm39)	N2D	unknown	Het
Iqcd	C	T	5: 120,740,514 (GRCm39)	R282W	probably damaging	Het
Lamc1	A	C	1: 153,126,268 (GRCm39)	C475G	probably damaging	Het
Map3k5	AAAAGAAAAAGA	AA	10: 19,986,612 (GRCm39)		probably null	Het
Med13	A	T	11: 86,194,375 (GRCm39)	D789E	probably damaging	Het
Mn1	A	G	5: 111,569,651 (GRCm39)	Y1207C	probably damaging	Het
Mroh2b	A	G	15: 4,967,892 (GRCm39)	D977G	possibly damaging	Het
Mrpl53	A	T	6: 83,086,169 (GRCm39)	N26I	probably damaging	Het
Nell1	A	T	7: 49,869,760 (GRCm39)		probably null	Het
Ogdh	T	G	11: 6,299,329 (GRCm39)	F743V	probably benign	Het
Or4d10b	A	T	19: 12,036,222 (GRCm39)	M298K	possibly damaging	Het
Or4n4	C	T	14: 50,519,036 (GRCm39)	V225I	probably benign	Het
Or6c3	A	G	10: 129,308,953 (GRCm39)	T131A	probably benign	Het
Plscr1l1	T	A	9: 92,233,061 (GRCm39)	F61L	probably benign	Het
Pmvk	A	G	3: 89,375,899 (GRCm39)	E174G	probably benign	Het
Pou6f2	T	C	13: 18,414,158 (GRCm39)	N206D		Het
Prelid3a	A	T	18: 67,606,018 (GRCm39)	S42C	probably benign	Het
Ryr1	A	G	7: 28,789,650 (GRCm39)	L1488P	probably damaging	Het
Shkbp1	A	G	7: 27,052,109 (GRCm39)	V158A	probably benign	Het
Slc9c1	A	G	16: 45,360,076 (GRCm39)	I43M	possibly damaging	Het
Smarca2	A	G	19: 26,654,080 (GRCm39)	N755S	possibly damaging	Het
Tcof1	G	C	18: 60,962,123 (GRCm39)	A702G	possibly damaging	Het
Tfb2m	G	A	1: 179,373,668 (GRCm39)	P10L	probably benign	Het
Trim30c	T	C	7: 104,032,703 (GRCm39)	M252V	probably benign	Het
Ttll1	A	G	15: 83,384,279 (GRCm39)	L116P	probably damaging	Het
Tubd1	C	T	11: 86,440,248 (GRCm39)	H91Y	possibly damaging	Het
Vgll4	A	G	6: 114,839,786 (GRCm39)	S175P	probably damaging	Het
Vmn1r79	A	G	7: 11,910,415 (GRCm39)	Y99C	possibly damaging	Het
Vmn2r80	C	T	10: 79,030,150 (GRCm39)	Q659*	probably null	Het
Zfp382	A	G	7: 29,833,840 (GRCm39)	D497G	possibly damaging	Het
Zfp41	A	G	15: 75,490,384 (GRCm39)	E112G	probably damaging	Het
Zfyve26	A	G	12: 79,307,605 (GRCm39)	S1754P	probably damaging	Het

Other mutations in Riok1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02116:Riok1	APN	13	38,243,932 (GRCm39)	missense	possibly damaging	0.80
IGL02675:Riok1	APN	13	38,234,219 (GRCm39)	missense	probably damaging	0.99
IGL02892:Riok1	APN	13	38,224,041 (GRCm39)	splice site	probably benign
IGL02952:Riok1	APN	13	38,232,866 (GRCm39)	missense	probably damaging	1.00
IGL03386:Riok1	APN	13	38,241,213 (GRCm39)	nonsense	probably null
IGL03054:Riok1	UTSW	13	38,231,291 (GRCm39)	missense	probably damaging	1.00
R0959:Riok1	UTSW	13	38,241,149 (GRCm39)	missense	probably damaging	0.96
R1423:Riok1	UTSW	13	38,233,090 (GRCm39)	missense	probably damaging	1.00
R1558:Riok1	UTSW	13	38,234,831 (GRCm39)	missense	probably damaging	1.00
R1624:Riok1	UTSW	13	38,221,487 (GRCm39)	missense	probably damaging	1.00
R1717:Riok1	UTSW	13	38,236,926 (GRCm39)	missense	probably damaging	1.00
R1858:Riok1	UTSW	13	38,242,694 (GRCm39)	nonsense	probably null
R1920:Riok1	UTSW	13	38,241,177 (GRCm39)	missense	probably benign	0.27
R2857:Riok1	UTSW	13	38,233,053 (GRCm39)	missense	probably damaging	1.00
R4179:Riok1	UTSW	13	38,232,931 (GRCm39)	missense	probably damaging	1.00
R7052:Riok1	UTSW	13	38,220,991 (GRCm39)	unclassified	probably benign
R7354:Riok1	UTSW	13	38,231,288 (GRCm39)	missense	probably benign	0.15
R7689:Riok1	UTSW	13	38,229,263 (GRCm39)	missense	probably damaging	1.00
R8432:Riok1	UTSW	13	38,221,468 (GRCm39)	missense	probably benign	0.01
R9617:Riok1	UTSW	13	38,244,016 (GRCm39)	missense	probably benign
R9636:Riok1	UTSW	13	38,242,719 (GRCm39)	critical splice donor site	probably null
R9695:Riok1	UTSW	13	38,242,676 (GRCm39)	missense	possibly damaging	0.88
Z1176:Riok1	UTSW	13	38,242,699 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- GCCTCCTTCAGCAAATCCTG -3'
(R):5'- TCCCACTTCAAGTGTCAAGAC -3'

Sequencing Primer
(F):5'- TGCCAGCATGTAATACCATAACTG -3'
(R):5'- AGTGTCAAGACCTTATCCCAGTG -3'

Posted On

2020-07-13