Incidental Mutation 'R4468:Riox2'
| ID |
329290 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Riox2
|
| Ensembl Gene |
ENSMUSG00000022724 |
| Gene Name |
ribosomal oxygenase 2 |
| Synonyms |
1810047J07Rik, Mina, 2410057H13Rik, 3830408E23Rik |
| MMRRC Submission |
041725-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.600)
|
| Stock # |
R4468 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
59292138-59312824 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to A
at 59296357 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125297
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023407]
[ENSMUST00000120667]
[ENSMUST00000120674]
[ENSMUST00000138324]
[ENSMUST00000160571]
|
| AlphaFold |
Q8CD15 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023407
|
| SMART Domains |
Protein: ENSMUSP00000023407
Gene: ENSMUSG00000022724
| Domain | Start | End | E-Value | Type |
|---|
|
JmjC
|
127 |
273 |
1.33e-2 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000120667
AA Change: F153I
|
| SMART Domains |
Protein: ENSMUSP00000112950
Gene: ENSMUSG00000022724
AA Change: F153I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cupin_4
|
51 |
150 |
7.5e-25 |
PFAM |
|
| 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 |
probably benign
Transcript: ENSMUST00000138324
|
| SMART Domains |
Protein: ENSMUSP00000121743
Gene: ENSMUSG00000022724
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cupin_4
|
51 |
74 |
5.3e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160571
|
| SMART Domains |
Protein: ENSMUSP00000125297
Gene: ENSMUSG00000022724
| Domain | Start | End | E-Value | Type |
|---|
|
JmjC
|
127 |
273 |
1.33e-2 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
100% (39/39) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aanat |
A |
T |
11: 116,487,781 (GRCm39) |
D160V |
possibly damaging |
Het |
| Abca2 |
A |
G |
2: 25,334,914 (GRCm39) |
Y1962C |
probably damaging |
Het |
| Adgrv1 |
T |
A |
13: 81,522,375 (GRCm39) |
M5921L |
probably benign |
Het |
| Bmp2 |
T |
C |
2: 133,396,374 (GRCm39) |
V10A |
probably benign |
Het |
| Ccdc33 |
A |
G |
9: 57,937,235 (GRCm39) |
S655P |
possibly damaging |
Het |
| Ccdc33 |
G |
T |
9: 57,977,155 (GRCm39) |
T282K |
possibly damaging |
Het |
| Chd1 |
T |
C |
17: 15,980,657 (GRCm39) |
I1308T |
probably damaging |
Het |
| Clec4f |
A |
G |
6: 83,629,415 (GRCm39) |
I381T |
probably damaging |
Het |
| Ifit1bl2 |
G |
A |
19: 34,596,468 (GRCm39) |
Q383* |
probably null |
Het |
| Igkv6-15 |
A |
G |
6: 70,383,957 (GRCm39) |
V7A |
probably benign |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lancl2 |
T |
A |
6: 57,690,019 (GRCm39) |
L75H |
probably damaging |
Het |
| Mtmr11 |
T |
C |
3: 96,075,207 (GRCm39) |
|
probably benign |
Het |
| Or12d14-ps1 |
A |
G |
17: 37,673,528 (GRCm39) |
I170M |
possibly damaging |
Het |
| Or13c7 |
G |
A |
4: 43,854,737 (GRCm39) |
V143M |
probably benign |
Het |
| Or7g29 |
C |
T |
9: 19,286,944 (GRCm39) |
V78I |
probably benign |
Het |
| Pcdha5 |
T |
C |
18: 37,095,233 (GRCm39) |
S581P |
probably benign |
Het |
| Phf10 |
T |
C |
17: 15,173,037 (GRCm39) |
|
probably null |
Het |
| Ppp2r3c |
C |
T |
12: 55,344,668 (GRCm39) |
W100* |
probably null |
Het |
| Prxl2b |
T |
G |
4: 154,981,507 (GRCm39) |
K190T |
probably benign |
Het |
| Pwwp3a |
C |
T |
10: 80,076,570 (GRCm39) |
|
probably benign |
Het |
| Rad9a |
G |
A |
19: 4,250,293 (GRCm39) |
H143Y |
probably benign |
Het |
| Ros1 |
T |
A |
10: 51,994,452 (GRCm39) |
Y1276F |
probably damaging |
Het |
| Rps12-ps24 |
A |
G |
8: 36,493,268 (GRCm39) |
|
noncoding transcript |
Het |
| Rps6-ps2 |
A |
G |
8: 89,533,319 (GRCm39) |
|
noncoding transcript |
Het |
| Scn11a |
G |
A |
9: 119,584,053 (GRCm39) |
L1521F |
probably damaging |
Het |
| Shoc2 |
A |
G |
19: 54,014,845 (GRCm39) |
Y346C |
probably damaging |
Het |
| Skp1 |
C |
T |
11: 52,135,905 (GRCm39) |
T138I |
probably benign |
Het |
| Snx29 |
T |
A |
16: 11,238,565 (GRCm39) |
|
probably null |
Het |
| Sos1 |
A |
G |
17: 80,761,240 (GRCm39) |
I152T |
probably damaging |
Het |
| Spag17 |
A |
T |
3: 99,992,682 (GRCm39) |
D1726V |
probably damaging |
Het |
| Tns4 |
A |
T |
11: 98,961,241 (GRCm39) |
C646S |
probably benign |
Het |
| Txndc11 |
T |
C |
16: 10,893,087 (GRCm39) |
H881R |
probably benign |
Het |
| Wls |
C |
A |
3: 159,578,564 (GRCm39) |
A42E |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTCTCAGATCTGAAGAGACTCTGC -3'
(R):5'- TCTGGCTATGATTGCTACAGATTC -3'
Sequencing Primer
(F):5'- CTCTGCAAGAAAGGAGTGTACTATG -3'
(R):5'- GAACAGTTGGATCCCTAGAGCTC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation