Mutagenetix > Incidental Mutation

Incidental Mutation 'R4179:Riok1'

319649

Institutional Source

Beutler Lab

Gene Symbol

Riok1

Ensembl Gene

ENSMUSG00000021428

Gene Name

RIO kinase 1

Synonyms

3110046C13Rik, 5430416A05Rik

MMRRC Submission

041015-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

R4179 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

38220971-38245409 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38232931 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 216 (F216L)

Ref Sequence

ENSEMBL: ENSMUSP00000021866 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021866] [ENSMUST00000223656] [ENSMUST00000224477]

AlphaFold

Q922Q2

Predicted Effect

probably damaging
Transcript: ENSMUST00000021866
AA Change: F216L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000021866
Gene: ENSMUSG00000021428
AA Change: F216L

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: ENSMUST00000223910

Predicted Effect

probably benign
Transcript: ENSMUST00000224477

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224683

Predicted Effect

unknown
Transcript: ENSMUST00000224956
AA Change: F160L

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225418

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226056

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226006

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225816

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34	T	C	8: 44,104,128 (GRCm39)	M506V	probably benign	Het
Ano1	A	T	7: 144,204,242 (GRCm39)	M290K	probably damaging	Het
Arrdc2	A	T	8: 71,289,821 (GRCm39)	L34Q	probably damaging	Het
Cdadc1	G	T	14: 59,829,935 (GRCm39)	T77N	probably benign	Het
Cmtr2	C	G	8: 110,947,669 (GRCm39)		probably null	Het
Cnot2	A	T	10: 116,334,048 (GRCm39)	V374E	possibly damaging	Het
Crnn	T	C	3: 93,054,120 (GRCm39)	M1T	probably null	Het
Ctsb	A	G	14: 63,370,901 (GRCm39)	N38D	probably benign	Het
Dock10	A	C	1: 80,488,134 (GRCm39)	S2010A	probably benign	Het
Dqx1	A	G	6: 83,036,460 (GRCm39)	T155A	probably benign	Het
Dysf	G	A	6: 84,163,491 (GRCm39)		probably null	Het
Eci1	T	C	17: 24,655,251 (GRCm39)	W119R	probably damaging	Het
Foxo1	C	A	3: 52,252,840 (GRCm39)	D334E	probably benign	Het
Gck	T	C	11: 5,860,295 (GRCm39)	T116A	probably benign	Het
Gcn1	T	C	5: 115,726,109 (GRCm39)	V588A	probably benign	Het
Gm7168	A	G	17: 14,169,265 (GRCm39)	I211V	probably benign	Het
Idh3g	A	T	X: 72,825,610 (GRCm39)		probably null	Het
Jag1	A	G	2: 136,943,578 (GRCm39)	F206S	probably damaging	Het
Loxl3	G	A	6: 83,014,565 (GRCm39)	V158I	probably benign	Het
Ly6g	A	G	15: 75,027,567 (GRCm39)		probably null	Het
Myo1b	A	G	1: 51,817,685 (GRCm39)	F532L	probably damaging	Het
Naip1	T	A	13: 100,562,684 (GRCm39)	N827I	probably damaging	Het
Nlrp9c	G	A	7: 26,084,086 (GRCm39)	H498Y	possibly damaging	Het
Or10d1b	A	G	9: 39,613,387 (GRCm39)	I226T	probably benign	Het
Pak2	C	G	16: 31,871,005 (GRCm39)	G59A	probably benign	Het
Pcdha2	T	A	18: 37,074,529 (GRCm39)	L720Q	probably damaging	Het
Pcdhb9	T	A	18: 37,534,168 (GRCm39)	M54K	probably benign	Het
Pde2a	A	G	7: 101,130,590 (GRCm39)	*71W	probably null	Het
Pkd2l1	T	C	19: 44,180,620 (GRCm39)	N32D	probably benign	Het
Pkhd1l1	A	C	15: 44,387,045 (GRCm39)	Y1306S	probably benign	Het
Plec	T	C	15: 76,064,415 (GRCm39)	K1953R	possibly damaging	Het
Plekhg4	T	A	8: 106,108,030 (GRCm39)	V1029E	possibly damaging	Het
Prkd1	C	A	12: 50,413,231 (GRCm39)	G647C	probably damaging	Het
Ptch1	C	T	13: 63,682,143 (GRCm39)	R537H	probably damaging	Het
Qser1	A	G	2: 104,606,729 (GRCm39)	I1510T	probably benign	Het
Ranbp3l	T	C	15: 9,057,279 (GRCm39)	I314T	possibly damaging	Het
Rgs9	C	A	11: 109,172,274 (GRCm39)		probably null	Het
Rrm1	T	A	7: 102,106,405 (GRCm39)	I308N	probably damaging	Het
Serpina1f	A	T	12: 103,658,179 (GRCm39)	M242K	probably benign	Het
Smox	G	A	2: 131,366,770 (GRCm39)	M576I	possibly damaging	Het
Spaca7	A	T	8: 12,636,435 (GRCm39)	N87I	probably damaging	Het
Spink5	A	T	18: 44,120,934 (GRCm39)	Q296L	probably benign	Het
Sspo	T	C	6: 48,475,329 (GRCm39)		probably null	Het
Sult2b1	T	A	7: 45,384,735 (GRCm39)	I114F	probably damaging	Het
Tex12	T	C	9: 50,470,587 (GRCm39)		probably null	Het
Tonsl	A	G	15: 76,508,675 (GRCm39)	L26P	probably damaging	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Tsen54	T	C	11: 115,711,678 (GRCm39)	V365A	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Usp47	T	C	7: 111,687,091 (GRCm39)	L683P	probably damaging	Het
Wdr18	T	C	10: 79,800,875 (GRCm39)	L146P	probably damaging	Het
Zfp709	A	G	8: 72,643,750 (GRCm39)	Y392C	probably damaging	Het
Zranb3	A	T	1: 127,888,601 (GRCm39)	I828N	possibly 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
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'- TCAAGAGAGGATTGTGTCGTC -3'
(R):5'- CGCATTTGTACTACAGACCCTC -3'

Sequencing Primer
(F):5'- CAAGAGAGGATTGTGTCGTCATTTC -3'
(R):5'- AGTTACCTGCACAAATTCCTCATC -3'

Posted On

2015-06-10