Incidental Mutation 'IGL02580:Riox2'
ID |
299313 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Riox2
|
Ensembl Gene |
ENSMUSG00000022724 |
Gene Name |
ribosomal oxygenase 2 |
Synonyms |
1810047J07Rik, Mina, 2410057H13Rik, 3830408E23Rik |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.676)
|
Stock # |
IGL02580
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
59292138-59312824 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 59306936 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 276
(V276I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125297
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023407]
[ENSMUST00000044604]
[ENSMUST00000120674]
[ENSMUST00000160571]
|
AlphaFold |
Q8CD15 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023407
AA Change: V276I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000023407 Gene: ENSMUSG00000022724 AA Change: V276I
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
AA Change: V276I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000112899 Gene: ENSMUSG00000022724 AA Change: V276I
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: V276I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000125297 Gene: ENSMUSG00000022724 AA Change: V276I
Domain | Start | End | E-Value | Type |
JmjC
|
127 |
273 |
1.33e-2 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acp3 |
A |
T |
9: 104,204,147 (GRCm39) |
I49N |
probably damaging |
Het |
Aqp8 |
T |
C |
7: 123,065,953 (GRCm39) |
|
probably benign |
Het |
Atrnl1 |
T |
C |
19: 57,703,008 (GRCm39) |
|
probably benign |
Het |
Cdh1 |
A |
G |
8: 107,375,650 (GRCm39) |
T63A |
probably benign |
Het |
Cenpf |
A |
G |
1: 189,389,638 (GRCm39) |
L1398S |
probably benign |
Het |
Ctdp1 |
T |
A |
18: 80,493,305 (GRCm39) |
S397C |
probably benign |
Het |
Cyp2c37 |
T |
A |
19: 39,982,942 (GRCm39) |
V177D |
probably damaging |
Het |
Elmo3 |
A |
T |
8: 106,035,126 (GRCm39) |
D419V |
probably damaging |
Het |
Fabp1 |
T |
C |
6: 71,180,128 (GRCm39) |
S100P |
probably damaging |
Het |
Hcfc2 |
A |
T |
10: 82,564,256 (GRCm39) |
N485I |
probably benign |
Het |
Igkv10-95 |
A |
G |
6: 68,657,636 (GRCm39) |
T51A |
probably benign |
Het |
Iqub |
A |
G |
6: 24,501,398 (GRCm39) |
I184T |
probably benign |
Het |
Map2k6 |
G |
A |
11: 110,381,667 (GRCm39) |
R71H |
probably damaging |
Het |
Mon1b |
G |
T |
8: 114,365,455 (GRCm39) |
R261L |
possibly damaging |
Het |
Ncapg2 |
T |
C |
12: 116,384,309 (GRCm39) |
S257P |
probably damaging |
Het |
Nusap1 |
T |
C |
2: 119,479,371 (GRCm39) |
|
probably benign |
Het |
Nwd2 |
A |
G |
5: 63,965,512 (GRCm39) |
R1699G |
probably damaging |
Het |
Olfm3 |
A |
G |
3: 114,916,157 (GRCm39) |
N363S |
probably damaging |
Het |
Or51g1 |
C |
T |
7: 102,633,909 (GRCm39) |
S154N |
probably damaging |
Het |
Or9m2 |
T |
C |
2: 87,820,857 (GRCm39) |
V134A |
probably benign |
Het |
Pirb |
T |
C |
7: 3,717,205 (GRCm39) |
|
probably null |
Het |
Plch2 |
G |
A |
4: 155,069,221 (GRCm39) |
T1135I |
probably benign |
Het |
Slc11a1 |
A |
G |
1: 74,419,418 (GRCm39) |
D144G |
probably damaging |
Het |
Usp40 |
C |
A |
1: 87,908,688 (GRCm39) |
|
probably null |
Het |
Vars2 |
G |
A |
17: 35,971,777 (GRCm39) |
A73V |
possibly damaging |
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 |
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 |
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 |
2015-04-16 |