Incidental Mutation 'IGL03076:Riox2'
| ID |
417683 |
| 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: 0.600)
|
| Stock # |
IGL03076
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
59292138-59312824 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 59311575 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Aspartic acid
at position 386
(A386D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125297
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023407]
[ENSMUST00000044604]
[ENSMUST00000120674]
[ENSMUST00000160571]
[ENSMUST00000172910]
|
| AlphaFold |
Q8CD15 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023407
AA Change: A386D
PolyPhen 2
Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000023407
Gene: ENSMUSG00000022724
AA Change: A386D
| 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 |
possibly damaging
Transcript: ENSMUST00000160571
AA Change: A386D
PolyPhen 2
Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000125297
Gene: ENSMUSG00000022724
AA Change: A386D
| 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
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankmy2 |
T |
C |
12: 36,215,917 (GRCm39) |
V39A |
probably damaging |
Het |
| Bcl2 |
A |
G |
1: 106,471,037 (GRCm39) |
V223A |
probably benign |
Het |
| Bsn |
T |
A |
9: 107,982,581 (GRCm39) |
Y3724F |
unknown |
Het |
| Chd8 |
T |
C |
14: 52,463,619 (GRCm39) |
|
probably benign |
Het |
| Cyp2a5 |
T |
C |
7: 26,535,299 (GRCm39) |
V87A |
probably damaging |
Het |
| Dnah10 |
T |
C |
5: 124,807,226 (GRCm39) |
|
probably null |
Het |
| Dync1h1 |
C |
T |
12: 110,624,327 (GRCm39) |
R3652W |
probably damaging |
Het |
| Epha5 |
T |
A |
5: 84,479,549 (GRCm39) |
T152S |
probably damaging |
Het |
| Flnb |
T |
G |
14: 7,901,988 (GRCm38) |
N950K |
probably benign |
Het |
| Fmn1 |
A |
G |
2: 113,414,437 (GRCm39) |
D1128G |
probably damaging |
Het |
| Fndc3a |
T |
A |
14: 72,793,908 (GRCm39) |
T922S |
possibly damaging |
Het |
| Fsip2 |
A |
T |
2: 82,812,482 (GRCm39) |
N2934Y |
possibly damaging |
Het |
| Gnptab |
T |
C |
10: 88,276,151 (GRCm39) |
V1146A |
possibly damaging |
Het |
| Gsg1l |
A |
G |
7: 125,522,665 (GRCm39) |
F188L |
probably benign |
Het |
| Kmt2c |
C |
A |
5: 25,504,149 (GRCm39) |
E309* |
probably null |
Het |
| Krt71 |
C |
T |
15: 101,643,032 (GRCm39) |
R492H |
probably benign |
Het |
| Lama1 |
T |
A |
17: 68,023,794 (GRCm39) |
V63E |
possibly damaging |
Het |
| Lrch3 |
T |
C |
16: 32,802,223 (GRCm39) |
V58A |
possibly damaging |
Het |
| Lrrc8b |
T |
A |
5: 105,629,415 (GRCm39) |
L587Q |
probably damaging |
Het |
| Lrrtm1 |
T |
C |
6: 77,221,568 (GRCm39) |
C342R |
probably damaging |
Het |
| Mdm1 |
T |
C |
10: 117,995,588 (GRCm39) |
S541P |
possibly damaging |
Het |
| Mdn1 |
T |
A |
4: 32,735,564 (GRCm39) |
V3410D |
probably damaging |
Het |
| Neb |
G |
A |
2: 52,059,100 (GRCm39) |
H213Y |
probably damaging |
Het |
| Or52p2 |
A |
T |
7: 102,237,679 (GRCm39) |
N90K |
probably benign |
Het |
| Or7e175 |
T |
C |
9: 20,049,023 (GRCm39) |
S204P |
probably benign |
Het |
| Pigt |
A |
G |
2: 164,339,585 (GRCm39) |
E36G |
probably damaging |
Het |
| Plxnb1 |
T |
A |
9: 108,935,970 (GRCm39) |
V1120D |
probably damaging |
Het |
| Rapgef6 |
T |
C |
11: 54,516,793 (GRCm39) |
L350P |
probably damaging |
Het |
| Rasgef1c |
C |
A |
11: 49,861,073 (GRCm39) |
T302K |
probably damaging |
Het |
| Semp2l1 |
A |
G |
1: 32,584,626 (GRCm39) |
I428T |
probably damaging |
Het |
| Slc12a2 |
T |
C |
18: 58,059,469 (GRCm39) |
|
probably benign |
Het |
| Trim24 |
T |
A |
6: 37,942,567 (GRCm39) |
S992R |
probably damaging |
Het |
| Trpc3 |
T |
C |
3: 36,694,804 (GRCm39) |
N717D |
probably damaging |
Het |
| Vwa5b1 |
T |
C |
4: 138,327,499 (GRCm39) |
D359G |
probably damaging |
Het |
| Wapl |
A |
G |
14: 34,414,046 (GRCm39) |
T303A |
probably benign |
Het |
| Zfp128 |
A |
G |
7: 12,618,636 (GRCm39) |
T45A |
possibly damaging |
Het |
| Zfp280d |
T |
C |
9: 72,219,944 (GRCm39) |
S240P |
probably 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 |
|
IGL02580:Riox2
|
APN |
16 |
59,306,936 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
2016-08-02 |
Incidental Mutation