Incidental Mutation 'IGL02675:Riok1'
ID |
303078 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Riok1
|
Ensembl Gene |
ENSMUSG00000021428 |
Gene Name |
RIO kinase 1 |
Synonyms |
3110046C13Rik, 5430416A05Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.957)
|
Stock # |
IGL02675
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
38220971-38245409 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 38234219 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 262
(P262S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021866
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021866]
[ENSMUST00000223656]
[ENSMUST00000224477]
|
AlphaFold |
Q922Q2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000021866
AA Change: P262S
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000021866 Gene: ENSMUSG00000021428 AA Change: P262S
Domain | Start | End | E-Value | Type |
low complexity region
|
54 |
75 |
N/A |
INTRINSIC |
RIO
|
150 |
386 |
5.1e-134 |
SMART |
Blast:RIO
|
465 |
531 |
4e-12 |
BLAST |
low complexity region
|
551 |
567 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223656
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224477
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224683
|
Predicted Effect |
silent
Transcript: ENSMUST00000224956
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225418
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225816
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226056
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226006
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes a member of the RIO family of atypical serine protein kinases. A similar protein in humans is a component of the protein arginine methyltransferase 5 complex that specifically recruits the RNA-binding protein nucleolin as a methylation substrate. [provided by RefSeq, Feb 2011]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ano8 |
A |
G |
8: 71,936,184 (GRCm39) |
I204T |
probably damaging |
Het |
Anxa8 |
A |
G |
14: 33,815,371 (GRCm39) |
D150G |
probably damaging |
Het |
Arel1 |
T |
C |
12: 84,977,002 (GRCm39) |
T438A |
probably damaging |
Het |
Asphd1 |
T |
C |
7: 126,546,006 (GRCm39) |
|
probably benign |
Het |
Bcl2l12 |
A |
T |
7: 44,640,824 (GRCm39) |
|
probably benign |
Het |
Cand1 |
A |
G |
10: 119,055,602 (GRCm39) |
I87T |
probably damaging |
Het |
Ccdc80 |
A |
C |
16: 44,936,695 (GRCm39) |
T707P |
probably damaging |
Het |
Ccn6 |
A |
G |
10: 39,027,236 (GRCm39) |
V332A |
possibly damaging |
Het |
Cdh9 |
T |
A |
15: 16,849,162 (GRCm39) |
|
probably null |
Het |
Chrd |
T |
C |
16: 20,558,699 (GRCm39) |
|
probably benign |
Het |
Cpn1 |
T |
C |
19: 43,969,369 (GRCm39) |
Q98R |
probably benign |
Het |
D630045J12Rik |
A |
G |
6: 38,172,420 (GRCm39) |
S583P |
possibly damaging |
Het |
Dnah7a |
A |
G |
1: 53,543,183 (GRCm39) |
I2329T |
possibly damaging |
Het |
Egln3 |
A |
G |
12: 54,249,996 (GRCm39) |
S118P |
probably benign |
Het |
Gfra1 |
G |
A |
19: 58,441,787 (GRCm39) |
T48I |
probably damaging |
Het |
Hapln3 |
C |
T |
7: 78,767,596 (GRCm39) |
|
probably null |
Het |
Heatr3 |
T |
C |
8: 88,871,185 (GRCm39) |
F180L |
possibly damaging |
Het |
Herc2 |
T |
A |
7: 55,813,849 (GRCm39) |
S2661T |
probably damaging |
Het |
Hook3 |
A |
T |
8: 26,551,462 (GRCm39) |
L126Q |
possibly damaging |
Het |
Hoxd8 |
T |
G |
2: 74,536,930 (GRCm39) |
L214R |
probably damaging |
Het |
Ifna1 |
T |
G |
4: 88,768,670 (GRCm39) |
L116R |
probably damaging |
Het |
Il31ra |
T |
A |
13: 112,660,886 (GRCm39) |
T487S |
probably benign |
Het |
Kifc2 |
C |
T |
15: 76,547,179 (GRCm39) |
R252W |
probably damaging |
Het |
Meox2 |
A |
G |
12: 37,228,333 (GRCm39) |
D290G |
probably damaging |
Het |
Micu2 |
A |
G |
14: 58,182,834 (GRCm39) |
|
probably benign |
Het |
Myh9 |
T |
C |
15: 77,673,130 (GRCm39) |
T406A |
possibly damaging |
Het |
Naip1 |
T |
A |
13: 100,545,626 (GRCm39) |
M1301L |
probably benign |
Het |
Pbrm1 |
T |
C |
14: 30,828,244 (GRCm39) |
L1341P |
possibly damaging |
Het |
Pcna-ps2 |
C |
A |
19: 9,261,323 (GRCm39) |
A194E |
probably benign |
Het |
Pdcd10 |
G |
A |
3: 75,434,901 (GRCm39) |
T130I |
probably damaging |
Het |
Pprc1 |
G |
A |
19: 46,051,946 (GRCm39) |
G491D |
probably damaging |
Het |
Prss57 |
A |
G |
10: 79,623,309 (GRCm39) |
V46A |
probably benign |
Het |
Ptcd3 |
A |
G |
6: 71,860,426 (GRCm39) |
|
probably null |
Het |
Rnf13 |
A |
G |
3: 57,686,817 (GRCm39) |
N70S |
probably benign |
Het |
Skint7 |
T |
A |
4: 111,839,178 (GRCm39) |
D157E |
probably benign |
Het |
Sri |
T |
C |
5: 8,117,534 (GRCm39) |
F191S |
probably damaging |
Het |
Stat5b |
T |
C |
11: 100,678,200 (GRCm39) |
R638G |
probably benign |
Het |
Suds3 |
C |
T |
5: 117,232,970 (GRCm39) |
|
probably null |
Het |
Tmem19 |
A |
G |
10: 115,178,478 (GRCm39) |
L281P |
probably damaging |
Het |
Tmf1 |
A |
G |
6: 97,141,003 (GRCm39) |
|
probably benign |
Het |
Trio |
A |
G |
15: 27,768,125 (GRCm39) |
|
probably benign |
Het |
Usp28 |
T |
C |
9: 48,950,391 (GRCm39) |
I940T |
possibly damaging |
Het |
Zfp280d |
T |
A |
9: 72,219,504 (GRCm39) |
I227K |
probably benign |
Het |
Zfp335 |
A |
G |
2: 164,752,609 (GRCm39) |
V45A |
probably benign |
Het |
|
Other mutations in Riok1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02116:Riok1
|
APN |
13 |
38,243,932 (GRCm39) |
missense |
possibly damaging |
0.80 |
IGL02892:Riok1
|
APN |
13 |
38,224,041 (GRCm39) |
splice site |
probably benign |
|
IGL02952:Riok1
|
APN |
13 |
38,232,866 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03386:Riok1
|
APN |
13 |
38,241,213 (GRCm39) |
nonsense |
probably null |
|
IGL03054:Riok1
|
UTSW |
13 |
38,231,291 (GRCm39) |
missense |
probably damaging |
1.00 |
R0959:Riok1
|
UTSW |
13 |
38,241,149 (GRCm39) |
missense |
probably damaging |
0.96 |
R1423:Riok1
|
UTSW |
13 |
38,233,090 (GRCm39) |
missense |
probably damaging |
1.00 |
R1558:Riok1
|
UTSW |
13 |
38,234,831 (GRCm39) |
missense |
probably damaging |
1.00 |
R1624:Riok1
|
UTSW |
13 |
38,221,487 (GRCm39) |
missense |
probably damaging |
1.00 |
R1717:Riok1
|
UTSW |
13 |
38,236,926 (GRCm39) |
missense |
probably damaging |
1.00 |
R1858:Riok1
|
UTSW |
13 |
38,242,694 (GRCm39) |
nonsense |
probably null |
|
R1920:Riok1
|
UTSW |
13 |
38,241,177 (GRCm39) |
missense |
probably benign |
0.27 |
R2857:Riok1
|
UTSW |
13 |
38,233,053 (GRCm39) |
missense |
probably damaging |
1.00 |
R4179:Riok1
|
UTSW |
13 |
38,232,931 (GRCm39) |
missense |
probably damaging |
1.00 |
R7052:Riok1
|
UTSW |
13 |
38,220,991 (GRCm39) |
unclassified |
probably benign |
|
R7354:Riok1
|
UTSW |
13 |
38,231,288 (GRCm39) |
missense |
probably benign |
0.15 |
R7689:Riok1
|
UTSW |
13 |
38,229,263 (GRCm39) |
missense |
probably damaging |
1.00 |
R8207:Riok1
|
UTSW |
13 |
38,236,296 (GRCm39) |
missense |
probably damaging |
1.00 |
R8432:Riok1
|
UTSW |
13 |
38,221,468 (GRCm39) |
missense |
probably benign |
0.01 |
R9617:Riok1
|
UTSW |
13 |
38,244,016 (GRCm39) |
missense |
probably benign |
|
R9636:Riok1
|
UTSW |
13 |
38,242,719 (GRCm39) |
critical splice donor site |
probably null |
|
R9695:Riok1
|
UTSW |
13 |
38,242,676 (GRCm39) |
missense |
possibly damaging |
0.88 |
Z1176:Riok1
|
UTSW |
13 |
38,242,699 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Posted On |
2015-04-16 |