Incidental Mutation 'R9194:Riok3'
| ID |
697885 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Riok3
|
| Ensembl Gene |
ENSMUSG00000024404 |
| Gene Name |
RIO kinase 3 |
| Synonyms |
1200013N13Rik, E130306C24Rik, D18Ertd331e, Sudd |
| MMRRC Submission |
068953-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.184)
|
| Stock # |
R9194 (G1)
|
| Quality Score |
217.468 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
12261798-12290444 bp(+) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
TTTCATT to TTT
at 12282642 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 null
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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
94% (44/47) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
A |
T |
9: 57,166,371 (GRCm39) |
M1K |
probably null |
Het |
| Adra1b |
A |
T |
11: 43,726,263 (GRCm39) |
V218D |
probably damaging |
Het |
| Ank1 |
A |
G |
8: 23,606,255 (GRCm39) |
S1216G |
possibly damaging |
Het |
| Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
| Cfap44 |
G |
T |
16: 44,288,824 (GRCm39) |
D1525Y |
probably damaging |
Het |
| Chd8 |
A |
T |
14: 52,439,650 (GRCm39) |
M2341K |
probably benign |
Het |
| Chst11 |
A |
G |
10: 83,027,319 (GRCm39) |
T249A |
probably damaging |
Het |
| Cttnbp2 |
A |
G |
6: 18,434,850 (GRCm39) |
V336A |
probably benign |
Het |
| Dennd3 |
T |
C |
15: 73,419,153 (GRCm39) |
L648P |
probably benign |
Het |
| Dhx16 |
T |
C |
17: 36,200,173 (GRCm39) |
V864A |
probably benign |
Het |
| Enpp3 |
G |
A |
10: 24,675,092 (GRCm39) |
H362Y |
possibly damaging |
Het |
| Ess2 |
A |
T |
16: 17,728,028 (GRCm39) |
D79E |
probably damaging |
Het |
| Fam83c |
T |
A |
2: 155,671,299 (GRCm39) |
Y712F |
probably damaging |
Het |
| Helz |
C |
T |
11: 107,561,113 (GRCm39) |
Q1392* |
probably null |
Het |
| Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
| Iqch |
T |
C |
9: 63,479,961 (GRCm39) |
H143R |
probably benign |
Het |
| Itgb5 |
A |
G |
16: 33,720,881 (GRCm39) |
D315G |
probably damaging |
Het |
| Kcnmb2 |
A |
G |
3: 32,236,174 (GRCm39) |
K141R |
probably benign |
Het |
| Lrrc37a |
G |
A |
11: 103,391,676 (GRCm39) |
P1250S |
probably benign |
Het |
| Mcm5 |
T |
G |
8: 75,836,962 (GRCm39) |
V110G |
probably damaging |
Het |
| Med27 |
G |
A |
2: 29,361,312 (GRCm39) |
D163N |
probably damaging |
Het |
| Mms22l |
C |
A |
4: 24,600,185 (GRCm39) |
Y1129* |
probably null |
Het |
| Mov10l1 |
G |
A |
15: 88,931,023 (GRCm39) |
R1081H |
probably damaging |
Het |
| Mtpap |
C |
G |
18: 4,380,833 (GRCm39) |
N170K |
probably benign |
Het |
| Mtpap |
C |
T |
18: 4,380,834 (GRCm39) |
Q171* |
probably null |
Het |
| Myo6 |
T |
A |
9: 80,153,836 (GRCm39) |
F271I |
unknown |
Het |
| Ndst4 |
C |
T |
3: 125,518,385 (GRCm39) |
S354L |
probably benign |
Het |
| Nfatc1 |
C |
T |
18: 80,751,258 (GRCm39) |
A26T |
probably benign |
Het |
| Or7d11 |
C |
A |
9: 19,966,543 (GRCm39) |
C72F |
probably damaging |
Het |
| Piezo2 |
G |
C |
18: 63,250,815 (GRCm39) |
T428S |
probably benign |
Het |
| Prkch |
A |
G |
12: 73,768,616 (GRCm39) |
E462G |
probably damaging |
Het |
| Rbm20 |
A |
G |
19: 53,823,131 (GRCm39) |
Y576C |
probably damaging |
Het |
| Rpp40 |
C |
T |
13: 36,080,898 (GRCm39) |
D302N |
probably benign |
Het |
| Sash1 |
A |
G |
10: 8,615,969 (GRCm39) |
V631A |
probably damaging |
Het |
| Sstr2 |
A |
G |
11: 113,515,203 (GRCm39) |
T41A |
probably benign |
Het |
| Thsd7b |
T |
A |
1: 129,843,371 (GRCm39) |
V861E |
possibly damaging |
Het |
| Tomm70a |
A |
G |
16: 56,973,070 (GRCm39) |
K603E |
possibly damaging |
Het |
| Tpd52l2 |
T |
A |
2: 181,141,683 (GRCm39) |
M22K |
possibly damaging |
Het |
| Tpst1 |
T |
A |
5: 130,130,860 (GRCm39) |
L110Q |
possibly damaging |
Het |
| Tram1l1 |
A |
G |
3: 124,115,137 (GRCm39) |
Y99C |
possibly damaging |
Het |
| Ttc39b |
A |
G |
4: 83,181,977 (GRCm39) |
F81L |
possibly damaging |
Het |
| Ubr1 |
A |
G |
2: 120,778,325 (GRCm39) |
Y238H |
probably damaging |
Het |
| Vmn1r202 |
G |
T |
13: 22,686,316 (GRCm39) |
H34N |
possibly damaging |
Het |
| Vmn1r36 |
G |
A |
6: 66,693,036 (GRCm39) |
Q280* |
probably null |
Het |
| Xpnpep1 |
A |
T |
19: 53,000,289 (GRCm39) |
V187E |
possibly damaging |
Het |
| Zfp592 |
A |
G |
7: 80,674,349 (GRCm39) |
I438V |
probably benign |
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 |
|
|
R4272:Riok3
|
UTSW |
18 |
12,268,998 (GRCm39) |
small deletion |
probably benign |
|
|
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 |
|
R9195:Riok3
|
UTSW |
18 |
12,282,642 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CACCAGGGTCTGTGTCTTAC -3'
(R):5'- CAGACTCTTGTGCTGTGTCC -3'
Sequencing Primer
(F):5'- TCATCTGTGTAGAACATAATACCAGC -3'
(R):5'- TGTGTCCCCAAGTTGGCC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation