Incidental Mutation 'R9636:Riok1'
| ID |
725802 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Riok1
|
| Ensembl Gene |
ENSMUSG00000021428 |
| Gene Name |
RIO kinase 1 |
| Synonyms |
3110046C13Rik, 5430416A05Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.957)
|
| Stock # |
R9636 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
38220971-38245409 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 38242719 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021866
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021866]
[ENSMUST00000223656]
|
| AlphaFold |
Q922Q2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000021866
|
| SMART Domains |
Protein: ENSMUSP00000021866
Gene: ENSMUSG00000021428
| 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam30 |
A |
G |
3: 98,068,312 (GRCm39) |
I48M |
probably benign |
Het |
| Arnt2 |
T |
G |
7: 83,993,042 (GRCm39) |
E177A |
probably benign |
Het |
| Atad3a |
T |
C |
4: 155,833,616 (GRCm39) |
T421A |
possibly damaging |
Het |
| Cdh6 |
A |
G |
15: 13,057,655 (GRCm39) |
L222P |
probably benign |
Het |
| Celf3 |
A |
G |
3: 94,394,580 (GRCm39) |
H304R |
possibly damaging |
Het |
| Ces1a |
T |
C |
8: 93,759,263 (GRCm39) |
E291G |
probably benign |
Het |
| Dicer1 |
C |
T |
12: 104,688,406 (GRCm39) |
W390* |
probably null |
Het |
| Fsip2 |
A |
T |
2: 82,820,563 (GRCm39) |
Q5432L |
possibly damaging |
Het |
| Gm12830 |
T |
C |
4: 114,698,859 (GRCm39) |
S73P |
|
Het |
| Hyal5 |
A |
G |
6: 24,876,656 (GRCm39) |
I176M |
possibly damaging |
Het |
| Ifna7 |
T |
C |
4: 88,734,733 (GRCm39) |
I90T |
possibly damaging |
Het |
| Klhl3 |
T |
C |
13: 58,198,863 (GRCm39) |
T259A |
probably damaging |
Het |
| Kpna3 |
A |
G |
14: 61,624,903 (GRCm39) |
S147P |
probably damaging |
Het |
| Lama4 |
A |
G |
10: 38,956,500 (GRCm39) |
D1141G |
possibly damaging |
Het |
| Letm2 |
T |
C |
8: 26,083,719 (GRCm39) |
I171V |
probably benign |
Het |
| Nfatc1 |
T |
A |
18: 80,706,611 (GRCm39) |
Q602L |
possibly damaging |
Het |
| Or13c7 |
T |
A |
4: 43,854,898 (GRCm39) |
N196K |
probably damaging |
Het |
| Or4k45 |
A |
T |
2: 111,395,786 (GRCm39) |
M1K |
probably null |
Het |
| Ppp4r4 |
T |
C |
12: 103,564,688 (GRCm39) |
V18A |
unknown |
Het |
| Prkdc |
G |
A |
16: 15,548,341 (GRCm39) |
R1983H |
probably benign |
Het |
| Ptprz1 |
A |
G |
6: 22,999,994 (GRCm39) |
R695G |
probably benign |
Het |
| Rbbp6 |
AAAGAAGAAGAAGAAGAAG |
AAAGAAGAAGAAGAAG |
7: 122,601,175 (GRCm39) |
|
probably benign |
Het |
| Rnf180 |
T |
A |
13: 105,386,819 (GRCm39) |
H164L |
possibly damaging |
Het |
| Slc2a3 |
A |
G |
6: 122,709,362 (GRCm39) |
S346P |
probably damaging |
Het |
| Slit3 |
A |
T |
11: 35,594,088 (GRCm39) |
D1426V |
probably damaging |
Het |
| Try10 |
A |
G |
6: 41,332,505 (GRCm39) |
N54D |
probably benign |
Het |
| Vmn2r71 |
T |
C |
7: 85,268,388 (GRCm39) |
V197A |
possibly damaging |
Het |
| Wdfy3 |
C |
A |
5: 102,047,899 (GRCm39) |
R1802L |
probably benign |
Het |
| Zfyve16 |
T |
C |
13: 92,631,456 (GRCm39) |
R1380G |
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 |
|
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 |
|
|
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'- CACAGGAGCAGGGTTTAGTC -3'
(R):5'- GGCTGGCAAGGTTCATCATG -3'
Sequencing Primer
(F):5'- CAGGGTTTAGTCCATGCTTAATG -3'
(R):5'- CAAGGTTCATCATGTAGCCTGACG -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation