Incidental Mutation 'R4272:Riok3'
| ID |
322243 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Riok3
|
| Ensembl Gene |
ENSMUSG00000024404 |
| Gene Name |
RIO kinase 3 |
| Synonyms |
1200013N13Rik, E130306C24Rik, D18Ertd331e, Sudd |
| MMRRC Submission |
041644-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.184)
|
| Stock # |
R4272 (G1)
|
| Quality Score |
217 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
12261798-12290444 bp(+) (GRCm39) |
| Type of Mutation |
small deletion (2 aa in frame mutation) |
| DNA Base Change (assembly) |
AGAAGCGG to AG
at 12268998 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025270
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025270]
|
| AlphaFold |
Q9DBU3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025270
|
| SMART Domains |
Protein: ENSMUSP00000025270
Gene: ENSMUSG00000024404
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
98% (52/53) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf2 |
T |
A |
17: 43,021,013 (GRCm39) |
T604S |
probably damaging |
Het |
| Ago3 |
T |
A |
4: 126,248,884 (GRCm39) |
T556S |
possibly damaging |
Het |
| Arap2 |
T |
C |
5: 62,828,322 (GRCm39) |
I950V |
possibly damaging |
Het |
| Arl5b |
A |
G |
2: 15,077,990 (GRCm39) |
E105G |
probably damaging |
Het |
| Capza3 |
A |
G |
6: 139,988,264 (GRCm39) |
I288V |
probably benign |
Het |
| Chka |
G |
A |
19: 3,925,737 (GRCm39) |
|
probably benign |
Het |
| Cnpy4 |
G |
T |
5: 138,190,853 (GRCm39) |
V159F |
probably damaging |
Het |
| Crb1 |
T |
C |
1: 139,251,049 (GRCm39) |
I301V |
probably benign |
Het |
| Disp1 |
T |
A |
1: 182,869,208 (GRCm39) |
I1071F |
possibly damaging |
Het |
| Dlec1 |
C |
T |
9: 118,972,231 (GRCm39) |
A1417V |
probably damaging |
Het |
| Dlgap1 |
T |
A |
17: 71,073,038 (GRCm39) |
S686T |
probably benign |
Het |
| Dync1li2 |
A |
G |
8: 105,149,775 (GRCm39) |
S411P |
probably damaging |
Het |
| Efnb2 |
T |
A |
8: 8,670,698 (GRCm39) |
S301C |
probably damaging |
Het |
| Enpp4 |
T |
C |
17: 44,412,698 (GRCm39) |
N279D |
probably benign |
Het |
| Exoc3 |
A |
G |
13: 74,340,763 (GRCm39) |
V347A |
probably damaging |
Het |
| Ezh1 |
A |
G |
11: 101,085,734 (GRCm39) |
F641S |
probably damaging |
Het |
| Gcgr |
T |
A |
11: 120,429,250 (GRCm39) |
|
probably benign |
Het |
| Gm4887 |
G |
T |
7: 104,470,535 (GRCm39) |
|
noncoding transcript |
Het |
| Hspg2 |
C |
T |
4: 137,246,251 (GRCm39) |
R1010C |
probably damaging |
Het |
| Htt |
G |
A |
5: 35,006,413 (GRCm39) |
V1441I |
possibly damaging |
Het |
| Ift70a1 |
A |
G |
2: 75,810,818 (GRCm39) |
Y422H |
probably damaging |
Het |
| Lmtk2 |
A |
G |
5: 144,120,044 (GRCm39) |
M1398V |
probably benign |
Het |
| Lrrc15 |
T |
C |
16: 30,092,673 (GRCm39) |
N222S |
probably benign |
Het |
| Mctp2 |
A |
T |
7: 71,909,079 (GRCm39) |
V78E |
possibly damaging |
Het |
| Medag |
A |
G |
5: 149,345,628 (GRCm39) |
Y103C |
probably damaging |
Het |
| Mphosph9 |
G |
A |
5: 124,442,266 (GRCm39) |
P361S |
probably damaging |
Het |
| Npffr2 |
G |
A |
5: 89,715,882 (GRCm39) |
V70M |
probably damaging |
Het |
| Obox3-ps8 |
A |
C |
17: 36,763,909 (GRCm39) |
|
noncoding transcript |
Het |
| Or4c117 |
A |
G |
2: 88,955,706 (GRCm39) |
V123A |
probably damaging |
Het |
| Pdgfra |
G |
A |
5: 75,343,731 (GRCm39) |
V751I |
probably benign |
Het |
| Phykpl |
T |
C |
11: 51,476,355 (GRCm39) |
L25P |
probably damaging |
Het |
| Rgl1 |
A |
T |
1: 152,412,040 (GRCm39) |
I443N |
probably benign |
Het |
| Rragd |
T |
C |
4: 32,996,099 (GRCm39) |
|
probably null |
Het |
| Rtcb |
A |
T |
10: 85,793,483 (GRCm39) |
M30K |
probably damaging |
Het |
| Rusc2 |
T |
A |
4: 43,415,533 (GRCm39) |
C280S |
probably damaging |
Het |
| Sall2 |
C |
A |
14: 52,551,260 (GRCm39) |
R643L |
probably damaging |
Het |
| Skp2 |
C |
A |
15: 9,116,947 (GRCm39) |
|
probably null |
Het |
| Slc52a3 |
T |
A |
2: 151,847,660 (GRCm39) |
I256N |
possibly damaging |
Het |
| Sycp2 |
A |
T |
2: 178,000,017 (GRCm39) |
D986E |
probably benign |
Het |
| Tas1r1 |
T |
C |
4: 152,116,614 (GRCm39) |
E340G |
possibly damaging |
Het |
| Tnpo1 |
GCACCTCTGCTTCCTC |
GCACCTCTGCTTCCTCACCTCTGCTTCCTC |
13: 99,003,637 (GRCm39) |
|
probably null |
Het |
| Trhr |
G |
A |
15: 44,060,620 (GRCm39) |
V47I |
probably damaging |
Het |
| Trpm2 |
A |
T |
10: 77,769,476 (GRCm39) |
N749K |
probably damaging |
Het |
| Ttc27 |
T |
A |
17: 75,147,355 (GRCm39) |
W636R |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,608,691 (GRCm39) |
R17775L |
probably damaging |
Het |
| Vmn2r55 |
A |
G |
7: 12,402,106 (GRCm39) |
F394S |
probably benign |
Het |
| Zfp52 |
C |
A |
17: 21,780,459 (GRCm39) |
Y102* |
probably null |
Het |
| Zyx |
A |
G |
6: 42,327,880 (GRCm39) |
D70G |
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 |
|
R1965:Riok3
|
UTSW |
18 |
12,270,019 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
|
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'- TGTACCCGAAGTGAACAAGTG -3'
(R):5'- GCTATTTGCTCTGTACTGAAAATCAGG -3'
Sequencing Primer
(F):5'- TACCCGAAGTGAACAAGTGAAAATGC -3'
(R):5'- GATGAACTAGGAACAGTGTGCTTC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation