Incidental Mutation 'R1423:Riok1'
| ID |
161179 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Riok1
|
| Ensembl Gene |
ENSMUSG00000021428 |
| Gene Name |
RIO kinase 1 |
| Synonyms |
3110046C13Rik, 5430416A05Rik |
| MMRRC Submission |
039479-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.956)
|
| Stock # |
R1423 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
38220971-38245409 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 38233090 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 241
(M241T)
|
| 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: M241T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021866
Gene: ENSMUSG00000021428
AA Change: M241T
| 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: M185T
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225418
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225816
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226056
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226006
|
| Meta Mutation Damage Score |
0.9311 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.0%
- 20x: 88.8%
|
| Validation Efficiency |
100% (48/48) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd13d |
A |
G |
19: 4,331,097 (GRCm39) |
S64P |
probably damaging |
Het |
| Armh4 |
T |
C |
14: 49,988,896 (GRCm39) |
E691G |
probably damaging |
Het |
| Bag4 |
T |
C |
8: 26,258,302 (GRCm39) |
S342G |
probably damaging |
Het |
| Bbs1 |
G |
A |
19: 4,944,291 (GRCm39) |
T446I |
probably benign |
Het |
| Bmyc |
A |
G |
2: 25,597,236 (GRCm39) |
D100G |
probably damaging |
Het |
| Btbd7 |
T |
C |
12: 102,751,734 (GRCm39) |
D1010G |
possibly damaging |
Het |
| Celsr3 |
A |
T |
9: 108,704,104 (GRCm39) |
T196S |
probably benign |
Het |
| Crtam |
C |
A |
9: 40,884,918 (GRCm39) |
R161L |
probably benign |
Het |
| Cyp11b2 |
C |
A |
15: 74,724,979 (GRCm39) |
G290V |
probably damaging |
Het |
| Edc4 |
C |
T |
8: 106,617,843 (GRCm39) |
|
probably benign |
Het |
| Exd1 |
A |
T |
2: 119,370,494 (GRCm39) |
|
probably benign |
Het |
| Fam120a |
G |
T |
13: 49,039,219 (GRCm39) |
A979E |
possibly damaging |
Het |
| Fbxo16 |
T |
C |
14: 65,524,623 (GRCm39) |
|
probably benign |
Het |
| Fbxo44 |
C |
G |
4: 148,240,726 (GRCm39) |
R220S |
probably damaging |
Het |
| Gabrb2 |
A |
G |
11: 42,420,298 (GRCm39) |
N173S |
probably damaging |
Het |
| Gm13741 |
A |
T |
2: 87,486,674 (GRCm39) |
I197K |
possibly damaging |
Het |
| Helb |
T |
A |
10: 119,944,871 (GRCm39) |
I222F |
probably damaging |
Het |
| Hesx1 |
A |
T |
14: 26,723,876 (GRCm39) |
Q153L |
probably null |
Het |
| Isca1 |
T |
C |
13: 59,910,593 (GRCm39) |
N33S |
probably benign |
Het |
| Itsn2 |
T |
C |
12: 4,723,572 (GRCm39) |
V1142A |
probably damaging |
Het |
| Lama5 |
T |
G |
2: 179,837,434 (GRCm39) |
T984P |
probably damaging |
Het |
| Lima1 |
T |
A |
15: 99,717,626 (GRCm39) |
K127* |
probably null |
Het |
| Lmbrd1 |
T |
A |
1: 24,785,959 (GRCm39) |
V418D |
probably damaging |
Het |
| Mertk |
T |
C |
2: 128,620,883 (GRCm39) |
V575A |
probably damaging |
Het |
| Mrps28 |
T |
C |
3: 8,965,184 (GRCm39) |
H85R |
probably benign |
Het |
| Mrtfb |
T |
C |
16: 13,230,105 (GRCm39) |
V930A |
possibly damaging |
Het |
| Naip2 |
G |
A |
13: 100,291,386 (GRCm39) |
T1184M |
probably benign |
Het |
| Naip2 |
C |
T |
13: 100,298,368 (GRCm39) |
G556D |
probably benign |
Het |
| Naip2 |
TCCC |
TCC |
13: 100,291,355 (GRCm39) |
|
probably benign |
Het |
| Naip2 |
G |
A |
13: 100,291,380 (GRCm39) |
S1186F |
possibly damaging |
Het |
| Nhlrc3 |
A |
T |
3: 53,369,836 (GRCm39) |
L45H |
probably damaging |
Het |
| Or52e5 |
T |
G |
7: 104,719,226 (GRCm39) |
M184R |
probably damaging |
Het |
| Or52u1 |
C |
T |
7: 104,237,682 (GRCm39) |
R224* |
probably null |
Het |
| Or8s16 |
T |
C |
15: 98,211,324 (GRCm39) |
T36A |
probably damaging |
Het |
| Parp14 |
G |
A |
16: 35,677,130 (GRCm39) |
A946V |
probably benign |
Het |
| Pcdhb15 |
A |
T |
18: 37,606,975 (GRCm39) |
D69V |
probably damaging |
Het |
| Pitpnm1 |
G |
A |
19: 4,162,392 (GRCm39) |
R1074H |
probably damaging |
Het |
| Plb1 |
A |
G |
5: 32,450,601 (GRCm39) |
N381D |
probably benign |
Het |
| Poc1b |
T |
C |
10: 98,988,725 (GRCm39) |
S247P |
probably damaging |
Het |
| Prl7b1 |
T |
A |
13: 27,786,110 (GRCm39) |
N186I |
probably damaging |
Het |
| Tigit |
T |
C |
16: 43,469,395 (GRCm39) |
E232G |
probably benign |
Het |
| Tpst2 |
T |
A |
5: 112,455,488 (GRCm39) |
L9Q |
probably benign |
Het |
| Ttbk1 |
T |
C |
17: 46,757,080 (GRCm39) |
|
probably benign |
Het |
| Vmn1r3 |
A |
T |
4: 3,185,231 (GRCm39) |
N25K |
probably damaging |
Het |
| Vmn2r121 |
T |
A |
X: 123,039,602 (GRCm39) |
H522L |
possibly damaging |
Het |
| Vmn2r15 |
T |
C |
5: 109,441,093 (GRCm39) |
Y255C |
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 |
|
|
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 |
|
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'- TGTTCAGAGAAGCGAGTCATTAAGCAG -3'
(R):5'- CTACATAGTCTAAAGGGTCCCCTCGG -3'
Sequencing Primer
(F):5'- CCCCTTATTGAGCAGAGTGTCATAG -3'
(R):5'- TCCCCTCGGCTTGGAAAG -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation