Incidental Mutation 'R0009:Riox2'
| ID |
7962 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Riox2
|
| Ensembl Gene |
ENSMUSG00000022724 |
| Gene Name |
ribosomal oxygenase 2 |
| Synonyms |
1810047J07Rik, Mina, 2410057H13Rik, 3830408E23Rik |
| MMRRC Submission |
038304-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.676)
|
| Stock # |
R0009 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
59292138-59312824 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 59309730 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 361
(D361E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125297
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023407]
[ENSMUST00000044604]
[ENSMUST00000120674]
[ENSMUST00000160571]
[ENSMUST00000172910]
|
| AlphaFold |
Q8CD15 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023407
AA Change: D361E
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000023407
Gene: ENSMUSG00000022724
AA Change: D361E
| Domain | Start | End | E-Value | Type |
|---|
|
JmjC
|
127 |
273 |
1.33e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044604
|
| SMART Domains |
Protein: ENSMUSP00000037682
Gene: ENSMUSG00000022723
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
258 |
273 |
N/A |
INTRINSIC |
|
low complexity region
|
282 |
290 |
N/A |
INTRINSIC |
|
XTALbg
|
430 |
516 |
2.78e-4 |
SMART |
|
Pfam:Crystall
|
536 |
599 |
3.3e-7 |
PFAM |
|
XTALbg
|
614 |
699 |
1.2e-21 |
SMART |
|
XTALbg
|
707 |
790 |
5.73e-19 |
SMART |
|
XTALbg
|
803 |
881 |
6.87e-5 |
SMART |
|
XTALbg
|
889 |
969 |
1.28e-7 |
SMART |
|
RICIN
|
972 |
1104 |
8.16e-14 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120674
|
| SMART Domains |
Protein: ENSMUSP00000112899
Gene: ENSMUSG00000022724
| Domain | Start | End | E-Value | Type |
|---|
|
JmjC
|
127 |
273 |
1.33e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129762
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131272
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160571
AA Change: D361E
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000125297
Gene: ENSMUSG00000022724
AA Change: D361E
| Domain | Start | End | E-Value | Type |
|---|
|
JmjC
|
127 |
273 |
1.33e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172910
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232544
|
| Meta Mutation Damage Score |
0.1415 |
| Coding Region Coverage |
- 1x: 79.7%
- 3x: 70.1%
- 10x: 44.5%
- 20x: 24.1%
|
| Validation Efficiency |
93% (78/84) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] MINA is a c-Myc (MYC; MIM 190080) target gene that may play a role in cell proliferation or regulation of cell growth. (Tsuneoka et al., 2002 [PubMed 12091391]; Zhang et al., 2005 [PubMed 15897898]).[supplied by OMIM, May 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced allergic response to house dust mites. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1bg |
T |
G |
15: 60,791,482 (GRCm39) |
|
probably benign |
Het |
| Afm |
C |
A |
5: 90,693,243 (GRCm39) |
|
probably benign |
Het |
| Aplnr |
T |
A |
2: 84,967,620 (GRCm39) |
|
probably null |
Het |
| Arih2 |
T |
A |
9: 108,488,926 (GRCm39) |
H264L |
probably damaging |
Het |
| Ccdc116 |
T |
C |
16: 16,961,903 (GRCm39) |
E15G |
probably damaging |
Het |
| Cfap53 |
A |
G |
18: 74,432,247 (GRCm39) |
H45R |
probably benign |
Het |
| Chd3 |
A |
G |
11: 69,240,732 (GRCm39) |
L1569P |
probably damaging |
Het |
| Cntn2 |
G |
A |
1: 132,443,918 (GRCm39) |
Q457* |
probably null |
Het |
| Coro1a |
A |
T |
7: 126,300,585 (GRCm39) |
|
probably benign |
Het |
| Cracr2b |
T |
A |
7: 141,043,672 (GRCm39) |
L91Q |
probably damaging |
Het |
| Ctdspl |
T |
C |
9: 118,849,114 (GRCm39) |
|
probably null |
Het |
| Dnase1 |
T |
C |
16: 3,856,810 (GRCm39) |
V147A |
probably damaging |
Het |
| Glud1 |
G |
A |
14: 34,056,225 (GRCm39) |
G300S |
probably benign |
Het |
| Gm4847 |
C |
T |
1: 166,458,055 (GRCm39) |
V433I |
probably benign |
Het |
| Herc2 |
T |
C |
7: 55,857,560 (GRCm39) |
S4048P |
probably benign |
Het |
| Hp1bp3 |
T |
A |
4: 137,948,994 (GRCm39) |
I19K |
probably benign |
Het |
| Il1a |
C |
T |
2: 129,150,994 (GRCm39) |
D10N |
probably damaging |
Het |
| Il22ra2 |
A |
T |
10: 19,500,206 (GRCm39) |
N39I |
probably damaging |
Het |
| Magi2 |
A |
T |
5: 20,816,053 (GRCm39) |
Y747F |
probably benign |
Het |
| Mcc |
C |
T |
18: 44,579,000 (GRCm39) |
E803K |
probably damaging |
Het |
| Rims2 |
T |
A |
15: 39,398,362 (GRCm39) |
M1087K |
probably damaging |
Het |
| Slc35e1 |
A |
T |
8: 73,238,553 (GRCm39) |
N318K |
probably damaging |
Het |
| Slc9a2 |
A |
T |
1: 40,802,762 (GRCm39) |
E604V |
probably benign |
Het |
| Tbx19 |
A |
T |
1: 164,988,089 (GRCm39) |
S15T |
possibly damaging |
Het |
| Tm4sf5 |
C |
T |
11: 70,401,538 (GRCm39) |
A179V |
probably damaging |
Het |
| Trappc11 |
A |
T |
8: 47,956,355 (GRCm39) |
C874S |
possibly damaging |
Het |
| Trpm3 |
T |
A |
19: 22,891,810 (GRCm39) |
Y885N |
probably damaging |
Het |
| Unc5a |
T |
A |
13: 55,150,692 (GRCm39) |
C505S |
probably damaging |
Het |
| Xpo5 |
T |
C |
17: 46,515,712 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Riox2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02313:Riox2
|
APN |
16 |
59,309,780 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02580:Riox2
|
APN |
16 |
59,306,936 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03076:Riox2
|
APN |
16 |
59,311,575 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R0009:Riox2
|
UTSW |
16 |
59,309,730 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0322:Riox2
|
UTSW |
16 |
59,309,752 (GRCm39) |
nonsense |
probably null |
|
|
R0592:Riox2
|
UTSW |
16 |
59,309,942 (GRCm39) |
unclassified |
probably benign |
|
|
R0620:Riox2
|
UTSW |
16 |
59,312,255 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1588:Riox2
|
UTSW |
16 |
59,295,946 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1623:Riox2
|
UTSW |
16 |
59,303,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2863:Riox2
|
UTSW |
16 |
59,309,756 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4113:Riox2
|
UTSW |
16 |
59,312,257 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4468:Riox2
|
UTSW |
16 |
59,296,357 (GRCm39) |
intron |
probably benign |
|
|
R4708:Riox2
|
UTSW |
16 |
59,296,045 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4739:Riox2
|
UTSW |
16 |
59,309,732 (GRCm39) |
missense |
probably benign |
|
|
R5074:Riox2
|
UTSW |
16 |
59,312,236 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R5385:Riox2
|
UTSW |
16 |
59,306,979 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8124:Riox2
|
UTSW |
16 |
59,306,954 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8977:Riox2
|
UTSW |
16 |
59,312,195 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2012-11-20 |
Incidental Mutation