Incidental Mutation 'IGL02952:Riok1'
ID |
364973 |
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: 0.956)
|
Stock # |
IGL02952
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
38220971-38245409 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 38232866 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 194
(Y194C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021866
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021866]
[ENSMUST00000223656]
[ENSMUST00000224477]
[ENSMUST00000226110]
|
AlphaFold |
Q922Q2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000021866
AA Change: Y194C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000021866 Gene: ENSMUSG00000021428 AA Change: Y194C
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 |
noncoding transcript
Transcript: ENSMUST00000223910
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224477
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224683
|
Predicted Effect |
unknown
Transcript: ENSMUST00000224956
AA Change: Y138C
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225418
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225816
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226056
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226006
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226110
|
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
A |
T |
6: 121,654,984 (GRCm39) |
D1436V |
probably damaging |
Het |
Abca7 |
G |
T |
10: 79,843,242 (GRCm39) |
R1239L |
probably damaging |
Het |
Acp2 |
T |
C |
2: 91,038,788 (GRCm39) |
|
probably benign |
Het |
Adamts4 |
A |
G |
1: 171,078,917 (GRCm39) |
N179S |
probably damaging |
Het |
Adgrv1 |
T |
C |
13: 81,581,755 (GRCm39) |
D4763G |
probably benign |
Het |
Atp11b |
T |
C |
3: 35,882,844 (GRCm39) |
V633A |
probably damaging |
Het |
Cadm2 |
A |
T |
16: 66,461,338 (GRCm39) |
I342K |
probably damaging |
Het |
Capn10 |
T |
C |
1: 92,872,896 (GRCm39) |
S541P |
probably damaging |
Het |
Ccnf |
A |
G |
17: 24,450,299 (GRCm39) |
L462P |
possibly damaging |
Het |
Cdc27 |
T |
C |
11: 104,408,290 (GRCm39) |
Y546C |
probably damaging |
Het |
Cep120 |
G |
T |
18: 53,816,300 (GRCm39) |
|
probably benign |
Het |
Cetn2 |
T |
C |
X: 71,957,808 (GRCm39) |
|
probably null |
Het |
Cyp1a1 |
C |
T |
9: 57,609,993 (GRCm39) |
S469L |
probably benign |
Het |
Dnah17 |
G |
A |
11: 117,979,094 (GRCm39) |
T1766I |
probably benign |
Het |
Doc2g |
G |
A |
19: 4,056,719 (GRCm39) |
G345D |
possibly damaging |
Het |
Dock4 |
T |
C |
12: 40,760,902 (GRCm39) |
|
probably null |
Het |
Dop1a |
T |
A |
9: 86,414,975 (GRCm39) |
|
probably benign |
Het |
Emilin2 |
C |
A |
17: 71,587,816 (GRCm39) |
V99F |
probably damaging |
Het |
Exoc8 |
A |
G |
8: 125,624,275 (GRCm39) |
S31P |
probably benign |
Het |
Gask1b |
T |
C |
3: 79,793,646 (GRCm39) |
L38P |
probably damaging |
Het |
Gm3115 |
T |
C |
14: 4,084,302 (GRCm38) |
|
probably benign |
Het |
Gm9742 |
T |
A |
13: 8,079,930 (GRCm39) |
|
noncoding transcript |
Het |
Gpr160 |
T |
C |
3: 30,950,443 (GRCm39) |
Y172H |
probably benign |
Het |
Ifnk |
T |
A |
4: 35,152,495 (GRCm39) |
L141Q |
probably damaging |
Het |
Klhl36 |
A |
G |
8: 120,597,223 (GRCm39) |
E308G |
probably benign |
Het |
Lrp1b |
T |
C |
2: 41,396,715 (GRCm39) |
I450M |
probably benign |
Het |
Noxa1 |
T |
C |
2: 24,981,773 (GRCm39) |
Y110C |
probably damaging |
Het |
Or10ad1 |
T |
C |
15: 98,105,470 (GRCm39) |
Y265C |
probably damaging |
Het |
Pkd2 |
A |
T |
5: 104,628,026 (GRCm39) |
T367S |
possibly damaging |
Het |
Polg2 |
T |
C |
11: 106,663,539 (GRCm39) |
I385V |
possibly damaging |
Het |
Ppp1r14bl |
A |
T |
1: 23,141,071 (GRCm39) |
I81N |
probably damaging |
Het |
Prr14l |
A |
G |
5: 32,993,014 (GRCm39) |
S17P |
unknown |
Het |
Prss22 |
C |
A |
17: 24,215,697 (GRCm39) |
C75F |
probably damaging |
Het |
Ptgs1 |
A |
G |
2: 36,141,253 (GRCm39) |
K567E |
probably benign |
Het |
Ptprz1 |
A |
G |
6: 23,036,925 (GRCm39) |
I1141M |
probably damaging |
Het |
R3hcc1l |
A |
G |
19: 42,552,433 (GRCm39) |
K477E |
probably damaging |
Het |
Smr2 |
T |
A |
5: 88,236,095 (GRCm39) |
C16S |
possibly damaging |
Het |
Stk25 |
A |
T |
1: 93,553,798 (GRCm39) |
I187N |
probably damaging |
Het |
Trhde |
T |
C |
10: 114,636,478 (GRCm39) |
E243G |
probably damaging |
Het |
Vmn2r3 |
T |
C |
3: 64,186,256 (GRCm39) |
E143G |
probably damaging |
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 |
IGL02675:Riok1
|
APN |
13 |
38,234,219 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02892:Riok1
|
APN |
13 |
38,224,041 (GRCm39) |
splice site |
probably benign |
|
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 |
2015-12-18 |