Incidental Mutation 'R2857:Riok1'
ID |
252515 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Riok1
|
Ensembl Gene |
ENSMUSG00000021428 |
Gene Name |
RIO kinase 1 |
Synonyms |
3110046C13Rik, 5430416A05Rik |
MMRRC Submission |
040447-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.957)
|
Stock # |
R2857 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
38220971-38245409 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 38233053 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 229
(F229L)
|
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: F229L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000021866 Gene: ENSMUSG00000021428 AA Change: F229L
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: F173L
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225816
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225418
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226056
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226006
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.6%
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A330087D11Rik |
A |
T |
7: 29,273,303 (GRCm39) |
|
noncoding transcript |
Het |
Amfr |
A |
T |
8: 94,731,842 (GRCm39) |
N11K |
probably damaging |
Het |
Bpifa6 |
G |
A |
2: 153,831,194 (GRCm39) |
M253I |
probably benign |
Het |
C330018D20Rik |
A |
G |
18: 57,095,531 (GRCm39) |
L18P |
probably benign |
Het |
Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
Cdh23 |
C |
T |
10: 60,218,432 (GRCm39) |
|
probably null |
Het |
Ceacam1 |
T |
A |
7: 25,173,442 (GRCm39) |
I249F |
probably damaging |
Het |
Cfap54 |
C |
T |
10: 92,881,144 (GRCm39) |
R348Q |
probably damaging |
Het |
Cfap91 |
A |
C |
16: 38,123,075 (GRCm39) |
L651R |
probably damaging |
Het |
Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
Cuzd1 |
C |
T |
7: 130,917,863 (GRCm39) |
V246M |
probably damaging |
Het |
Ehd2 |
A |
T |
7: 15,698,054 (GRCm39) |
V61E |
probably damaging |
Het |
Erich5 |
C |
T |
15: 34,471,560 (GRCm39) |
T263I |
probably damaging |
Het |
Fbxo36 |
A |
G |
1: 84,874,316 (GRCm39) |
K104R |
probably benign |
Het |
Fibin |
C |
T |
2: 110,192,542 (GRCm39) |
R200H |
probably damaging |
Het |
Gad2 |
A |
C |
2: 22,563,987 (GRCm39) |
M397L |
probably benign |
Het |
Garin3 |
T |
C |
11: 46,296,039 (GRCm39) |
I137T |
probably damaging |
Het |
Iqgap3 |
C |
A |
3: 88,014,903 (GRCm39) |
S873* |
probably null |
Het |
Kcnh8 |
A |
G |
17: 53,284,961 (GRCm39) |
D977G |
probably benign |
Het |
Mau2 |
T |
C |
8: 70,472,474 (GRCm39) |
M570V |
probably benign |
Het |
Mrgprb4 |
T |
A |
7: 47,848,084 (GRCm39) |
R281S |
possibly damaging |
Het |
Mthfd1 |
T |
C |
12: 76,335,699 (GRCm39) |
Y258H |
probably damaging |
Het |
Nexn |
C |
T |
3: 151,953,680 (GRCm39) |
E247K |
probably damaging |
Het |
Or11g27 |
T |
A |
14: 50,770,897 (GRCm39) |
N9K |
probably benign |
Het |
Or3a10 |
C |
T |
11: 73,935,653 (GRCm39) |
G149D |
possibly damaging |
Het |
Or9e1 |
T |
A |
11: 58,732,708 (GRCm39) |
V256E |
probably benign |
Het |
Phrf1 |
T |
A |
7: 140,839,593 (GRCm39) |
|
probably benign |
Het |
Prc1 |
A |
G |
7: 79,961,969 (GRCm39) |
N52S |
probably damaging |
Het |
Psd |
G |
C |
19: 46,312,859 (GRCm39) |
S170R |
probably benign |
Het |
Slco1a7 |
A |
G |
6: 141,690,264 (GRCm39) |
V163A |
probably benign |
Het |
Stat2 |
A |
G |
10: 128,112,770 (GRCm39) |
|
probably null |
Het |
Sycp3 |
A |
G |
10: 88,303,234 (GRCm39) |
E166G |
probably damaging |
Het |
Szt2 |
G |
A |
4: 118,226,599 (GRCm39) |
T510I |
probably damaging |
Het |
Trank1 |
A |
T |
9: 111,196,001 (GRCm39) |
T1342S |
probably benign |
Het |
Trav3-1 |
C |
A |
14: 52,818,515 (GRCm39) |
A63E |
probably benign |
Het |
Trim34b |
A |
T |
7: 103,985,439 (GRCm39) |
N358I |
probably benign |
Het |
Trmt11 |
G |
C |
10: 30,423,744 (GRCm39) |
P387R |
probably damaging |
Het |
Vmn2r82 |
T |
A |
10: 79,217,090 (GRCm39) |
I474N |
probably damaging |
Het |
Vrk2 |
C |
A |
11: 26,433,324 (GRCm39) |
S286I |
possibly damaging |
Het |
Wdfy3 |
A |
T |
5: 102,023,796 (GRCm39) |
I2451N |
probably benign |
Het |
Zfp326 |
G |
A |
5: 106,036,395 (GRCm39) |
R102H |
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 |
|
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 |
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'- TGTATACTATGCTAGCACACCCAG -3'
(R):5'- TGCAGGCTCTTCACAATAGC -3'
Sequencing Primer
(F):5'- CACACCCAGTGGAGAGAGC -3'
(R):5'- GCTACATAGTCTAAAGGGTCCC -3'
|
Posted On |
2014-12-04 |