Incidental Mutation 'IGL00159:Riok3'
| ID |
756 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Riok3
|
| Ensembl Gene |
ENSMUSG00000024404 |
| Gene Name |
RIO kinase 3 |
| Synonyms |
Sudd, 1200013N13Rik, E130306C24Rik, D18Ertd331e |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.195)
|
| Stock # |
IGL00159
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
12128850-12157367 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 12148891 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 306
(I306V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025270
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025270]
|
| AlphaFold |
Q9DBU3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025270
AA Change: I306V
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000025270
Gene: ENSMUSG00000024404
AA Change: I306V
| 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 |
|
| Validation Efficiency |
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9030624J02Rik |
G |
A |
7: 118,797,047 (GRCm38) |
|
probably null |
Het |
| Axin1 |
A |
T |
17: 26,142,805 (GRCm38) |
D41V |
possibly damaging |
Het |
| BC034090 |
C |
A |
1: 155,225,451 (GRCm38) |
E718* |
probably null |
Het |
| Cdc123 |
G |
T |
2: 5,804,935 (GRCm38) |
Q222K |
probably benign |
Het |
| Clip1 |
A |
C |
5: 123,603,654 (GRCm38) |
V1053G |
possibly damaging |
Het |
| Dock7 |
T |
A |
4: 99,063,985 (GRCm38) |
E416V |
probably damaging |
Het |
| Dydc1 |
T |
C |
14: 41,087,413 (GRCm38) |
L143P |
probably damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,158,839 (GRCm38) |
V732A |
probably benign |
Het |
| Dzip1l |
T |
A |
9: 99,637,777 (GRCm38) |
L119Q |
probably damaging |
Het |
| Erp27 |
T |
A |
6: 136,909,502 (GRCm38) |
S178C |
probably damaging |
Het |
| Fbn1 |
A |
G |
2: 125,397,873 (GRCm38) |
V298A |
probably benign |
Het |
| Fbxo34 |
A |
G |
14: 47,529,474 (GRCm38) |
H97R |
probably damaging |
Het |
| Gm20521 |
C |
T |
14: 54,884,622 (GRCm38) |
Q81* |
probably null |
Het |
| Gspt1 |
T |
C |
16: 11,222,612 (GRCm38) |
M610V |
probably damaging |
Het |
| Herc1 |
A |
G |
9: 66,437,682 (GRCm38) |
Q1919R |
possibly damaging |
Het |
| Il19 |
A |
G |
1: 130,935,055 (GRCm38) |
|
probably benign |
Het |
| Kif14 |
G |
A |
1: 136,469,018 (GRCm38) |
S354N |
probably benign |
Het |
| Lrrk2 |
A |
G |
15: 91,747,799 (GRCm38) |
K1309E |
possibly damaging |
Het |
| Lurap1 |
T |
C |
4: 116,137,690 (GRCm38) |
T115A |
probably damaging |
Het |
| Myo18b |
G |
T |
5: 112,874,131 (GRCm38) |
T465K |
probably benign |
Het |
| Nwd1 |
A |
T |
8: 72,671,077 (GRCm38) |
D648V |
probably damaging |
Het |
| Olfr272 |
T |
G |
4: 52,911,618 (GRCm38) |
M59L |
possibly damaging |
Het |
| Olfr520 |
G |
A |
7: 99,735,317 (GRCm38) |
R58H |
probably benign |
Het |
| Otof |
T |
C |
5: 30,375,904 (GRCm38) |
Y1527C |
probably damaging |
Het |
| Otop3 |
G |
A |
11: 115,344,397 (GRCm38) |
C285Y |
probably damaging |
Het |
| Parp3 |
A |
G |
9: 106,471,387 (GRCm38) |
I478T |
probably benign |
Het |
| Pdzd2 |
C |
T |
15: 12,457,983 (GRCm38) |
E265K |
possibly damaging |
Het |
| Pik3c2g |
T |
C |
6: 139,896,125 (GRCm38) |
L634P |
probably damaging |
Het |
| Prkg1 |
C |
A |
19: 31,302,340 (GRCm38) |
V165L |
probably benign |
Het |
| Ror2 |
T |
C |
13: 53,113,082 (GRCm38) |
D439G |
probably benign |
Het |
| Scn2a |
T |
A |
2: 65,743,090 (GRCm38) |
I1428N |
probably damaging |
Het |
| Sgcg |
C |
T |
14: 61,232,475 (GRCm38) |
D146N |
probably benign |
Het |
| Slc16a9 |
A |
G |
10: 70,282,699 (GRCm38) |
R283G |
probably benign |
Het |
| Sptb |
T |
C |
12: 76,621,331 (GRCm38) |
D664G |
probably benign |
Het |
| Tmprss3 |
T |
A |
17: 31,195,008 (GRCm38) |
D54V |
probably damaging |
Het |
| Ttc37 |
T |
C |
13: 76,143,278 (GRCm38) |
|
probably null |
Het |
| Tubd1 |
G |
T |
11: 86,565,729 (GRCm38) |
V374F |
probably benign |
Het |
| Vmn2r57 |
A |
T |
7: 41,428,785 (GRCm38) |
M83K |
probably benign |
Het |
| Vps13c |
A |
G |
9: 67,945,999 (GRCm38) |
E2458G |
probably benign |
Het |
| Zhx2 |
A |
T |
15: 57,822,870 (GRCm38) |
E545V |
probably damaging |
Het |
|
| Other mutations in Riok3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00229:Riok3
|
APN |
18 |
12,137,020 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00434:Riok3
|
APN |
18 |
12,148,847 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01348:Riok3
|
APN |
18 |
12,152,963 (GRCm38) |
splice site |
probably benign |
|
|
IGL01886:Riok3
|
APN |
18 |
12,139,385 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02553:Riok3
|
APN |
18 |
12,143,016 (GRCm38) |
nonsense |
probably null |
|
|
IGL02622:Riok3
|
APN |
18 |
12,142,960 (GRCm38) |
missense |
probably benign |
0.24 |
|
IGL02718:Riok3
|
APN |
18 |
12,152,996 (GRCm38) |
nonsense |
probably null |
|
|
LCD18:Riok3
|
UTSW |
18 |
12,129,982 (GRCm38) |
intron |
probably benign |
|
|
R0240:Riok3
|
UTSW |
18 |
12,155,227 (GRCm38) |
missense |
probably benign |
0.37 |
|
R0359:Riok3
|
UTSW |
18 |
12,148,949 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1505:Riok3
|
UTSW |
18 |
12,152,878 (GRCm38) |
missense |
probably benign |
0.06 |
|
R1519:Riok3
|
UTSW |
18 |
12,137,306 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1698:Riok3
|
UTSW |
18 |
12,128,929 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1710:Riok3
|
UTSW |
18 |
12,142,961 (GRCm38) |
missense |
probably benign |
0.24 |
|
R1965:Riok3
|
UTSW |
18 |
12,136,962 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2351:Riok3
|
UTSW |
18 |
12,149,667 (GRCm38) |
nonsense |
probably null |
|
|
R3705:Riok3
|
UTSW |
18 |
12,148,954 (GRCm38) |
missense |
probably benign |
0.07 |
|
R3914:Riok3
|
UTSW |
18 |
12,148,822 (GRCm38) |
missense |
probably benign |
|
|
R3956:Riok3
|
UTSW |
18 |
12,142,974 (GRCm38) |
nonsense |
probably null |
|
|
R4272:Riok3
|
UTSW |
18 |
12,135,941 (GRCm38) |
small deletion |
probably benign |
|
|
R4273:Riok3
|
UTSW |
18 |
12,135,941 (GRCm38) |
small deletion |
probably benign |
|
|
R4564:Riok3
|
UTSW |
18 |
12,148,879 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4589:Riok3
|
UTSW |
18 |
12,136,787 (GRCm38) |
missense |
probably benign |
0.06 |
|
R4729:Riok3
|
UTSW |
18 |
12,128,927 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R4751:Riok3
|
UTSW |
18 |
12,153,983 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4938:Riok3
|
UTSW |
18 |
12,155,243 (GRCm38) |
missense |
probably benign |
0.06 |
|
R4945:Riok3
|
UTSW |
18 |
12,128,915 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5449:Riok3
|
UTSW |
18 |
12,155,246 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R5928:Riok3
|
UTSW |
18 |
12,153,018 (GRCm38) |
missense |
probably benign |
0.16 |
|
R6220:Riok3
|
UTSW |
18 |
12,149,551 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R7962:Riok3
|
UTSW |
18 |
12,136,719 (GRCm38) |
missense |
probably benign |
|
|
R8422:Riok3
|
UTSW |
18 |
12,136,812 (GRCm38) |
missense |
probably null |
1.00 |
|
R9194:Riok3
|
UTSW |
18 |
12,149,585 (GRCm38) |
frame shift |
probably null |
|
|
R9195:Riok3
|
UTSW |
18 |
12,149,585 (GRCm38) |
frame shift |
probably null |
|
|
| Posted On |
2011-07-12 |
Incidental Mutation