Incidental Mutation 'R1505:Riok3'
| ID |
169141 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Riok3
|
| Ensembl Gene |
ENSMUSG00000024404 |
| Gene Name |
RIO kinase 3 |
| Synonyms |
1200013N13Rik, E130306C24Rik, D18Ertd331e, Sudd |
| MMRRC Submission |
040868-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.184)
|
| Stock # |
R1505 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
12261798-12290444 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 12285935 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 418
(K418R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025270
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025270]
|
| AlphaFold |
Q9DBU3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025270
AA Change: K418R
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000025270
Gene: ENSMUSG00000024404
AA Change: K418R
| 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: 98.9%
- 3x: 97.8%
- 10x: 94.5%
- 20x: 86.3%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg3 |
T |
A |
5: 105,099,431 (GRCm39) |
R444W |
probably damaging |
Het |
| Adnp |
A |
G |
2: 168,025,661 (GRCm39) |
S545P |
possibly damaging |
Het |
| Ankrd17 |
T |
C |
5: 90,447,885 (GRCm39) |
R219G |
possibly damaging |
Het |
| Ap2m1 |
C |
G |
16: 20,361,447 (GRCm39) |
P372A |
probably benign |
Het |
| Calml3 |
T |
A |
13: 3,854,071 (GRCm39) |
T45S |
probably benign |
Het |
| Casp8 |
A |
G |
1: 58,868,081 (GRCm39) |
E174G |
probably damaging |
Het |
| Ces4a |
G |
A |
8: 105,864,729 (GRCm39) |
G69S |
probably damaging |
Het |
| Cfap221 |
A |
C |
1: 119,881,358 (GRCm39) |
L368R |
probably benign |
Het |
| Chd9 |
A |
G |
8: 91,733,123 (GRCm39) |
|
probably null |
Het |
| Cnot1 |
A |
T |
8: 96,455,295 (GRCm39) |
I2035N |
probably damaging |
Het |
| Cyp2c67 |
T |
C |
19: 39,637,408 (GRCm39) |
R23G |
probably benign |
Het |
| Dnah10 |
A |
C |
5: 124,831,303 (GRCm39) |
H777P |
possibly damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fam162b |
G |
A |
10: 51,463,298 (GRCm39) |
A123V |
probably damaging |
Het |
| Golgb1 |
T |
A |
16: 36,740,005 (GRCm39) |
N2781K |
possibly damaging |
Het |
| Hs2st1 |
C |
A |
3: 144,140,322 (GRCm39) |
R333L |
probably benign |
Het |
| Kmt2e |
A |
G |
5: 23,705,533 (GRCm39) |
H1319R |
probably null |
Het |
| Necab1 |
A |
T |
4: 14,960,047 (GRCm39) |
M300K |
probably benign |
Het |
| Ntrk3 |
T |
A |
7: 78,110,272 (GRCm39) |
I321F |
probably damaging |
Het |
| Or5p60 |
A |
G |
7: 107,724,200 (GRCm39) |
V90A |
probably benign |
Het |
| Or7e169 |
A |
T |
9: 19,757,084 (GRCm39) |
M277K |
probably benign |
Het |
| Or8g52 |
A |
G |
9: 39,630,774 (GRCm39) |
N84D |
probably damaging |
Het |
| Or8k41 |
A |
T |
2: 86,313,557 (GRCm39) |
H176Q |
possibly damaging |
Het |
| Osbpl6 |
T |
C |
2: 76,409,586 (GRCm39) |
S483P |
probably damaging |
Het |
| Pcdhb17 |
A |
C |
18: 37,619,875 (GRCm39) |
N555T |
probably damaging |
Het |
| Pdgfc |
G |
A |
3: 81,116,543 (GRCm39) |
R299H |
possibly damaging |
Het |
| Ptpn7 |
A |
T |
1: 135,062,302 (GRCm39) |
T83S |
probably benign |
Het |
| Rapgef5 |
T |
C |
12: 117,652,354 (GRCm39) |
V79A |
possibly damaging |
Het |
| Rexo5 |
T |
A |
7: 119,398,826 (GRCm39) |
C54* |
probably null |
Het |
| Robo4 |
G |
A |
9: 37,314,523 (GRCm39) |
G170D |
probably damaging |
Het |
| Rpl8 |
A |
G |
15: 76,788,610 (GRCm39) |
D33G |
possibly damaging |
Het |
| Rspo2 |
T |
C |
15: 42,939,239 (GRCm39) |
T184A |
probably damaging |
Het |
| Ryr2 |
A |
T |
13: 11,569,478 (GRCm39) |
M4942K |
possibly damaging |
Het |
| Sel1l |
T |
C |
12: 91,780,736 (GRCm39) |
Y585C |
probably damaging |
Het |
| Slc25a11 |
G |
T |
11: 70,537,650 (GRCm39) |
D13E |
probably benign |
Het |
| Slc5a6 |
G |
T |
5: 31,194,455 (GRCm39) |
H584N |
probably benign |
Het |
| Snrpf |
A |
G |
10: 93,419,381 (GRCm39) |
V69A |
possibly damaging |
Het |
| Sorbs3 |
T |
A |
14: 70,428,251 (GRCm39) |
K475* |
probably null |
Het |
| Speg |
G |
A |
1: 75,352,186 (GRCm39) |
V35I |
probably benign |
Het |
| Tlk2 |
T |
G |
11: 105,151,121 (GRCm39) |
V468G |
probably damaging |
Het |
| Trim6 |
T |
A |
7: 103,881,771 (GRCm39) |
W341R |
probably damaging |
Het |
| Ttll5 |
T |
A |
12: 85,926,184 (GRCm39) |
I326N |
probably damaging |
Het |
| Vipas39 |
T |
C |
12: 87,292,934 (GRCm39) |
Y318C |
probably damaging |
Het |
| Vmn1r185 |
T |
A |
7: 26,310,903 (GRCm39) |
I201F |
probably damaging |
Het |
| Vwce |
A |
G |
19: 10,641,608 (GRCm39) |
H778R |
probably benign |
Het |
| Zbtb14 |
C |
G |
17: 69,694,759 (GRCm39) |
I152M |
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 |
|
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 |
|
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'- CATACACTGATTCCCTGGCAGTTCC -3'
(R):5'- TGCACACCTACCTGTGAAACATTCC -3'
Sequencing Primer
(F):5'- tggtttggtttgtttttttgtttttg -3'
(R):5'- GTGAAACATTCCTACAGTCACGG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation