Incidental Mutation 'IGL03054:Riok1'
ID |
453034 |
Institutional Source |
Beutler Lab
|
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 # |
IGL03054 (G1)
|
Quality Score |
149 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
38220971-38245409 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 38231291 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Aspartic acid
at position 183
(G183D)
|
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: G183D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000021866 Gene: ENSMUSG00000021428 AA Change: G183D
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: G127D
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225418
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226056
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225954
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226110
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225816
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226006
|
Meta Mutation Damage Score |
0.7908 |
Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
Validation Efficiency |
98% (43/44) |
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933416I08Rik |
TCC |
TCCC |
X: 52,692,862 (GRCm39) |
|
noncoding transcript |
Het |
Acsbg3 |
A |
G |
17: 57,193,528 (GRCm39) |
T625A |
possibly damaging |
Het |
Aloxe3 |
T |
C |
11: 69,020,433 (GRCm39) |
V159A |
possibly damaging |
Het |
Atp13a2 |
T |
A |
4: 140,734,279 (GRCm39) |
C1134S |
possibly damaging |
Het |
Ccdc40 |
G |
A |
11: 119,154,027 (GRCm39) |
E1100K |
possibly damaging |
Het |
Ceacam5 |
A |
T |
7: 17,493,379 (GRCm39) |
T801S |
possibly damaging |
Het |
Cilp |
TGGG |
TGG |
9: 65,187,412 (GRCm39) |
|
probably null |
Het |
Col4a2 |
T |
C |
8: 11,498,270 (GRCm39) |
I1693T |
probably damaging |
Het |
Crb1 |
CG |
C |
1: 139,164,824 (GRCm39) |
|
probably null |
Het |
Dab2 |
G |
T |
15: 6,447,707 (GRCm39) |
|
probably benign |
Het |
Dao |
T |
C |
5: 114,162,963 (GRCm39) |
L345P |
probably damaging |
Het |
Dis3l |
A |
G |
9: 64,217,722 (GRCm39) |
|
probably null |
Het |
Egr3 |
C |
T |
14: 70,316,561 (GRCm39) |
T124M |
probably damaging |
Het |
Gng7 |
G |
T |
10: 80,787,485 (GRCm39) |
F59L |
probably damaging |
Het |
Itgb4 |
C |
A |
11: 115,891,166 (GRCm39) |
Y1190* |
probably null |
Het |
Lacc1 |
T |
C |
14: 77,268,355 (GRCm39) |
M319V |
possibly damaging |
Het |
Mapkbp1 |
A |
G |
2: 119,845,881 (GRCm39) |
T417A |
probably damaging |
Het |
Mier3 |
C |
T |
13: 111,822,848 (GRCm39) |
|
probably benign |
Het |
Mlxipl |
A |
G |
5: 135,162,110 (GRCm39) |
D569G |
possibly damaging |
Het |
Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
Mrpl15 |
A |
G |
1: 4,855,794 (GRCm39) |
|
probably null |
Het |
Neb |
T |
C |
2: 52,161,334 (GRCm39) |
N2153D |
probably damaging |
Het |
Nlrp9c |
A |
G |
7: 26,081,701 (GRCm39) |
|
probably null |
Het |
Npepps |
C |
T |
11: 97,132,614 (GRCm39) |
|
probably benign |
Het |
Or13a17 |
T |
G |
7: 140,271,623 (GRCm39) |
S268R |
probably benign |
Het |
Or1j10 |
A |
T |
2: 36,266,944 (GRCm39) |
H52L |
possibly damaging |
Het |
Or52z12 |
C |
A |
7: 103,234,047 (GRCm39) |
H273N |
probably benign |
Het |
Psmc4 |
T |
C |
7: 27,746,605 (GRCm39) |
Y160C |
probably damaging |
Het |
Rims1 |
T |
C |
1: 22,360,333 (GRCm39) |
Y131C |
probably damaging |
Het |
Samd9l |
T |
A |
6: 3,376,023 (GRCm39) |
I413F |
probably damaging |
Het |
Tnfrsf22 |
A |
G |
7: 143,194,532 (GRCm39) |
Y132H |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,726,104 (GRCm39) |
|
probably benign |
Het |
Tulp1 |
A |
G |
17: 28,578,287 (GRCm39) |
|
probably benign |
Het |
Usp15 |
C |
A |
10: 122,961,836 (GRCm39) |
|
probably benign |
Het |
Wdr7 |
G |
T |
18: 63,958,192 (GRCm39) |
|
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 |
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 |
IGL03386:Riok1
|
APN |
13 |
38,241,213 (GRCm39) |
nonsense |
probably null |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATCACTCTTGGTATAGTCGGTG -3'
(R):5'- TCTTATCAACTGACTACCAAGCAAG -3'
Sequencing Primer
(F):5'- GTTTTGGATCCCAGAACAAG -3'
(R):5'- CTAGAACTTGCTTTGTAGACCAGGC -3'
|
Posted On |
2017-01-24 |