Incidental Mutation 'R3705:Riok3'
| ID |
258726 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Riok3
|
| Ensembl Gene |
ENSMUSG00000024404 |
| Gene Name |
RIO kinase 3 |
| Synonyms |
1200013N13Rik, E130306C24Rik, D18Ertd331e, Sudd |
| MMRRC Submission |
040698-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.184)
|
| Stock # |
R3705 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
12261798-12290444 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 12282011 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 327
(M327V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025270
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025270]
|
| AlphaFold |
Q9DBU3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025270
AA Change: M327V
PolyPhen 2
Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000025270
Gene: ENSMUSG00000024404
AA Change: M327V
| 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 |
|
| Meta Mutation Damage Score |
0.0735 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
100% (46/46) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
T |
C |
11: 48,838,803 (GRCm39) |
T595A |
possibly damaging |
Het |
| Abca12 |
T |
C |
1: 71,324,864 (GRCm39) |
D1538G |
probably damaging |
Het |
| Asap3 |
TGAGGAGGAGGAGGAGGA |
TGAGGAGGAGGAGGAGGAGGA |
4: 135,968,552 (GRCm39) |
|
probably benign |
Het |
| Bcap29 |
T |
C |
12: 31,667,151 (GRCm39) |
H170R |
probably benign |
Het |
| Bltp1 |
T |
A |
3: 37,041,730 (GRCm39) |
C2703S |
probably damaging |
Het |
| Brwd3 |
A |
G |
X: 107,804,021 (GRCm39) |
|
probably benign |
Het |
| Capn1 |
T |
C |
19: 6,057,401 (GRCm39) |
E349G |
probably damaging |
Het |
| Cers3 |
G |
T |
7: 66,435,823 (GRCm39) |
A261S |
probably benign |
Het |
| Csf3r |
A |
G |
4: 125,926,078 (GRCm39) |
D221G |
possibly damaging |
Het |
| Cubn |
T |
A |
2: 13,355,754 (GRCm39) |
H1826L |
probably damaging |
Het |
| Dnajc19 |
A |
G |
3: 34,134,378 (GRCm39) |
|
probably null |
Het |
| Dync1h1 |
G |
A |
12: 110,607,020 (GRCm39) |
V2566I |
possibly damaging |
Het |
| Ehd1 |
A |
G |
19: 6,348,330 (GRCm39) |
D436G |
|
Het |
| Fam133b |
T |
C |
5: 3,611,034 (GRCm39) |
|
probably benign |
Het |
| Fam43b |
G |
C |
4: 138,122,409 (GRCm39) |
R304G |
probably benign |
Het |
| Gpnmb |
T |
A |
6: 49,028,799 (GRCm39) |
I439N |
possibly damaging |
Het |
| Grm1 |
G |
A |
10: 10,658,473 (GRCm39) |
T339I |
possibly damaging |
Het |
| Gtpbp3 |
T |
G |
8: 71,944,779 (GRCm39) |
S345A |
probably benign |
Het |
| Hdac4 |
A |
G |
1: 91,862,416 (GRCm39) |
|
probably benign |
Het |
| Hfm1 |
A |
G |
5: 107,040,705 (GRCm39) |
|
probably benign |
Het |
| Ift172 |
A |
G |
5: 31,418,781 (GRCm39) |
|
probably null |
Het |
| Igfn1 |
T |
C |
1: 135,896,147 (GRCm39) |
N1473S |
probably benign |
Het |
| Jak3 |
A |
G |
8: 72,134,166 (GRCm39) |
K423E |
probably damaging |
Het |
| Kifc3 |
G |
A |
8: 95,830,656 (GRCm39) |
|
probably benign |
Het |
| Lrrc8d |
T |
C |
5: 105,961,341 (GRCm39) |
S584P |
probably damaging |
Het |
| Nipal4 |
T |
C |
11: 46,052,678 (GRCm39) |
|
probably benign |
Het |
| Nisch |
A |
G |
14: 30,898,702 (GRCm39) |
|
probably benign |
Het |
| Nmur2 |
T |
C |
11: 55,931,300 (GRCm39) |
Y137C |
probably damaging |
Het |
| Nod2 |
T |
C |
8: 89,379,948 (GRCm39) |
S150P |
probably benign |
Het |
| Or5w22 |
A |
G |
2: 87,362,412 (GRCm39) |
I12V |
probably benign |
Het |
| Pdgfc |
T |
C |
3: 81,111,751 (GRCm39) |
|
probably null |
Het |
| Phldb1 |
G |
T |
9: 44,605,691 (GRCm39) |
H1323N |
probably damaging |
Het |
| Ppp1r14c |
A |
G |
10: 3,373,524 (GRCm39) |
I112V |
possibly damaging |
Het |
| Pramel26 |
T |
C |
4: 143,538,345 (GRCm39) |
T209A |
probably benign |
Het |
| Rcc1l |
A |
T |
5: 134,183,030 (GRCm39) |
V414E |
probably damaging |
Het |
| Sf3b4 |
T |
C |
3: 96,083,944 (GRCm39) |
|
probably benign |
Het |
| Spag6 |
A |
G |
2: 18,715,368 (GRCm39) |
Y49C |
probably damaging |
Het |
| Syngap1 |
T |
C |
17: 27,178,994 (GRCm39) |
S495P |
probably damaging |
Het |
| Tedc2 |
A |
G |
17: 24,435,361 (GRCm39) |
S343P |
probably benign |
Het |
| Tenm2 |
T |
A |
11: 35,959,153 (GRCm39) |
D1132V |
probably damaging |
Het |
| Tmem63a |
G |
A |
1: 180,790,679 (GRCm39) |
D446N |
possibly damaging |
Het |
| Top1 |
G |
A |
2: 160,544,744 (GRCm39) |
|
probably null |
Het |
| Tox3 |
G |
T |
8: 90,975,533 (GRCm39) |
T366K |
possibly damaging |
Het |
| Tph2 |
G |
A |
10: 114,955,798 (GRCm39) |
Q332* |
probably null |
Het |
| Zfr2 |
T |
G |
10: 81,081,913 (GRCm39) |
V493G |
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 |
|
|
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 |
|
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'- TCCCTTTAGCCTGGAGGATG -3'
(R):5'- TCCCTTAAATGTCAGTGAAGAAGG -3'
Sequencing Primer
(F):5'- TCCCTTTAGCCTGGAGGATGAAAAG -3'
(R):5'- AGGACTTCTGGTTCTAAACATGG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation