Incidental Mutation 'IGL03386:Riok1'
| ID |
420870 |
| 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 # |
IGL03386
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
38220971-38245409 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 38241213 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 456
(L456*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021866
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021866]
[ENSMUST00000223656]
|
| AlphaFold |
Q922Q2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000021866
AA Change: L456*
|
| SMART Domains |
Protein: ENSMUSP00000021866
Gene: ENSMUSG00000021428
AA Change: L456*
| 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: ENSMUST00000224962
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225174
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226056
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arid2 |
T |
C |
15: 96,259,455 (GRCm39) |
F236L |
probably damaging |
Het |
| AU018091 |
T |
C |
7: 3,211,107 (GRCm39) |
Y274C |
probably damaging |
Het |
| BC024139 |
A |
G |
15: 76,005,945 (GRCm39) |
F419L |
probably benign |
Het |
| Cd300ld |
T |
G |
11: 114,874,998 (GRCm39) |
D212A |
probably benign |
Het |
| Ces1g |
T |
C |
8: 94,052,440 (GRCm39) |
H283R |
probably benign |
Het |
| Chac2 |
T |
A |
11: 30,927,720 (GRCm39) |
K66N |
probably benign |
Het |
| Emc1 |
T |
C |
4: 139,091,092 (GRCm39) |
|
probably null |
Het |
| Eml6 |
G |
A |
11: 29,699,934 (GRCm39) |
A1734V |
probably benign |
Het |
| Erich3 |
G |
A |
3: 154,444,876 (GRCm39) |
E548K |
possibly damaging |
Het |
| Gm3604 |
T |
A |
13: 62,517,981 (GRCm39) |
E105D |
possibly damaging |
Het |
| Gpr158 |
A |
G |
2: 21,831,057 (GRCm39) |
K719R |
probably damaging |
Het |
| Heatr6 |
T |
C |
11: 83,650,203 (GRCm39) |
S220P |
probably damaging |
Het |
| Kcnip4 |
T |
C |
5: 48,639,889 (GRCm39) |
Y74C |
probably damaging |
Het |
| Kmt2b |
T |
C |
7: 30,273,396 (GRCm39) |
H2380R |
possibly damaging |
Het |
| Lars2 |
A |
T |
9: 123,282,455 (GRCm39) |
K680* |
probably null |
Het |
| Macc1 |
T |
A |
12: 119,409,598 (GRCm39) |
M122K |
probably benign |
Het |
| Pbrm1 |
A |
G |
14: 30,772,049 (GRCm39) |
D381G |
probably damaging |
Het |
| Phf11d |
A |
G |
14: 59,599,309 (GRCm39) |
|
probably benign |
Het |
| Qrsl1 |
A |
G |
10: 43,752,546 (GRCm39) |
Y426H |
possibly damaging |
Het |
| Rps6kc1 |
A |
G |
1: 190,531,767 (GRCm39) |
L745P |
probably damaging |
Het |
| Sh3tc2 |
A |
T |
18: 62,106,382 (GRCm39) |
H137L |
probably benign |
Het |
| Shoc1 |
T |
C |
4: 59,069,315 (GRCm39) |
K704E |
possibly damaging |
Het |
| Shroom3 |
T |
A |
5: 93,096,342 (GRCm39) |
|
probably benign |
Het |
| Stac2 |
T |
A |
11: 97,931,966 (GRCm39) |
Q103L |
possibly damaging |
Het |
| Thnsl1 |
G |
A |
2: 21,216,359 (GRCm39) |
A38T |
probably benign |
Het |
| Traf3ip2 |
A |
G |
10: 39,521,704 (GRCm39) |
I421V |
probably benign |
Het |
| Vmn2r14 |
T |
C |
5: 109,368,350 (GRCm39) |
D214G |
possibly 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 |
|
|
IGL02952:Riok1
|
APN |
13 |
38,232,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2016-08-02 |
Incidental Mutation