Mutagenetix > Incidental Mutation

Incidental Mutation 'R0959:Riok1'

81790

Institutional Source

Beutler Lab

Gene Symbol

Riok1

Ensembl Gene

ENSMUSG00000021428

Gene Name

RIO kinase 1

Synonyms

3110046C13Rik, 5430416A05Rik

MMRRC Submission

039088-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

R0959 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

38220971-38245409 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 38241149 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 435 (E435K)

Ref Sequence

ENSEMBL: ENSMUSP00000021866 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021866] [ENSMUST00000223656]

AlphaFold

Q922Q2

Predicted Effect

probably damaging
Transcript: ENSMUST00000021866
AA Change: E435K

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000021866
Gene: ENSMUSG00000021428
AA Change: E435K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000223656

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224962

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225174

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226056

Coding Region Coverage

1x: 99.6%
3x: 98.7%
10x: 95.8%
20x: 89.6%

Validation Efficiency

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl11	T	C	9: 107,808,434 (GRCm39)	V919A	probably damaging	Het
Adam28	G	A	14: 68,845,387 (GRCm39)	P761L	possibly damaging	Het
Aoc1l3	T	A	6: 48,965,566 (GRCm39)	C525S	possibly damaging	Het
Aplf	G	A	6: 87,623,065 (GRCm39)	P338L	probably benign	Het
Arl5b	T	A	2: 15,077,942 (GRCm39)	I89N	probably damaging	Het
Asap2	T	C	12: 21,297,320 (GRCm39)	V596A	probably damaging	Het
Baz1b	T	G	5: 135,273,076 (GRCm39)	F1400C	probably damaging	Het
Ccdc149	A	T	5: 52,542,497 (GRCm39)	L365Q	probably damaging	Het
Ccdc60	A	G	5: 116,318,870 (GRCm39)	S149P	probably damaging	Het
Ces1b	A	G	8: 93,794,775 (GRCm39)	C275R	probably damaging	Het
Creb3	T	C	4: 43,563,509 (GRCm39)	L163P	probably damaging	Het
Dhx37	T	G	5: 125,500,496 (GRCm39)	N570T	probably benign	Het
Epc1	T	C	18: 6,453,657 (GRCm39)	N223D	probably damaging	Het
Gbp5	C	T	3: 142,208,885 (GRCm39)	H143Y	possibly damaging	Het
Gfod1	A	T	13: 43,456,905 (GRCm39)	D23E	probably benign	Het
Gm7361	A	T	5: 26,467,051 (GRCm39)	E223D	possibly damaging	Het
Izumo1	A	G	7: 45,274,415 (GRCm39)	K161E	probably damaging	Het
Kcnh2	C	T	5: 24,527,670 (GRCm39)	R894H	probably damaging	Het
Lrp1b	T	C	2: 41,158,366 (GRCm39)	N1617S	possibly damaging	Het
Med13l	A	T	5: 118,892,350 (GRCm39)	E1924D	possibly damaging	Het
Mroh2a	GCCC	GC	1: 88,159,979 (GRCm39)		probably null	Het
Mtg2	T	G	2: 179,725,221 (GRCm39)	S145A	probably benign	Het
Mug2	G	A	6: 122,062,454 (GRCm39)	S1442N	probably benign	Het
Myo1b	A	T	1: 51,836,246 (GRCm39)	I315N	probably damaging	Het
Naip2	G	A	13: 100,291,386 (GRCm39)	T1184M	probably benign	Het
Naip2	T	A	13: 100,291,419 (GRCm39)	H1173L	probably benign	Het
Nsrp1	G	A	11: 76,937,285 (GRCm39)	R304*	probably null	Het
Or2a56	G	T	6: 42,932,686 (GRCm39)	V85L	probably benign	Het
Oxtr	C	T	6: 112,454,138 (GRCm39)	R42Q	probably benign	Het
Parp4	T	C	14: 56,885,576 (GRCm39)	F1552L	unknown	Het
Pigw	G	A	11: 84,769,033 (GRCm39)	H99Y	probably benign	Het
Ppp6r2	G	A	15: 89,158,379 (GRCm39)	M444I	possibly damaging	Het
Rchy1	A	G	5: 92,105,476 (GRCm39)	F82L	probably damaging	Het
Reln	A	C	5: 22,432,626 (GRCm39)	F125V	probably damaging	Het
Rnf213	A	G	11: 119,343,407 (GRCm39)	R3590G	probably damaging	Het
Scart2	A	G	7: 139,874,704 (GRCm39)	E394G	probably damaging	Het
Scrib	G	C	15: 75,923,310 (GRCm39)	P1249A	probably benign	Het
Shc4	C	T	2: 125,520,607 (GRCm39)		probably null	Het
Slc12a2	T	A	18: 58,037,450 (GRCm39)	I520N	probably damaging	Het
Slc26a5	A	G	5: 22,021,959 (GRCm39)	I484T	probably benign	Het
Slc39a11	G	T	11: 113,354,899 (GRCm39)	T110K	probably benign	Het
Snd1	T	A	6: 28,884,970 (GRCm39)	S774T	probably benign	Het
Spata31d1c	C	T	13: 65,184,129 (GRCm39)	P557L	probably damaging	Het
Tada1	A	G	1: 166,216,198 (GRCm39)	D133G	probably benign	Het
Tg	A	T	15: 66,579,859 (GRCm39)	T1555S	probably damaging	Het
Thra	A	G	11: 98,644,455 (GRCm39)	E15G	possibly damaging	Het
Timd5	A	T	11: 46,427,247 (GRCm39)	R187*	probably null	Het
Ttn	T	A	2: 76,625,440 (GRCm39)	I15128F	probably damaging	Het
Ube2r2	A	G	4: 41,174,066 (GRCm39)	Y68C	probably damaging	Het
Uncx	A	T	5: 139,532,442 (GRCm39)	N169I	probably damaging	Het
Vmn2r100	A	G	17: 19,743,786 (GRCm39)	Y483C	possibly damaging	Het
Xkr4	T	C	1: 3,286,897 (GRCm39)	D431G	probably damaging	Het
Xylb	C	A	9: 119,209,091 (GRCm39)	A311E	possibly damaging	Het
Zbtb39	C	G	10: 127,578,175 (GRCm39)	Q250E	probably benign	Het
Zbtb39	C	A	10: 127,578,931 (GRCm39)	H502N	probably damaging	Het
Zfp82	A	G	7: 29,755,876 (GRCm39)	L402P	probably damaging	Het
Zpbp2	G	A	11: 98,448,451 (GRCm39)	R256Q	probably benign	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
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
R8207:Riok1	UTSW	13	38,236,296 (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'- CCTTCCTCAGATGCCCTTTGGAATG -3'
(R):5'- TGGAAATGCACCGCCCTCTCTTAC -3'

Sequencing Primer
(F):5'- cactctctttctcccctaagtc -3'
(R):5'- CTTATGCAGCACGTATGGAAGC -3'

Posted On

2013-11-08