Incidental Mutation 'R4113:Riox2'
| ID |
314525 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R4113 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
59292138-59312824 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 59312257 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 465
(L465F)
|
| 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: L465F
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000023407
Gene: ENSMUSG00000022724
AA Change: L465F
| 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: L465F
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000125297
Gene: ENSMUSG00000022724
AA Change: L465F
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.6%
- 20x: 96.1%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bace2 |
A |
G |
16: 97,237,856 (GRCm39) |
T436A |
probably benign |
Het |
| BC024139 |
A |
G |
15: 76,005,827 (GRCm39) |
M458T |
probably benign |
Het |
| Casp2 |
G |
A |
6: 42,244,828 (GRCm39) |
A76T |
probably damaging |
Het |
| Catsper3 |
A |
G |
13: 55,934,183 (GRCm39) |
K35E |
probably damaging |
Het |
| Ccdc88c |
A |
G |
12: 100,911,332 (GRCm39) |
L34P |
probably damaging |
Het |
| Dcaf13 |
T |
A |
15: 38,993,615 (GRCm39) |
I236N |
probably damaging |
Het |
| Dip2c |
G |
T |
13: 9,687,137 (GRCm39) |
G1254C |
probably damaging |
Het |
| Dnah12 |
T |
C |
14: 26,414,722 (GRCm39) |
L41P |
probably damaging |
Het |
| Dnah17 |
T |
C |
11: 118,003,420 (GRCm39) |
K514R |
possibly damaging |
Het |
| Dnajb12 |
T |
A |
10: 59,730,136 (GRCm39) |
S270R |
possibly damaging |
Het |
| Dnajc28 |
G |
A |
16: 91,413,755 (GRCm39) |
T187M |
probably damaging |
Het |
| Eya4 |
G |
T |
10: 23,031,849 (GRCm39) |
S235Y |
probably damaging |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Gdf3 |
A |
G |
6: 122,584,016 (GRCm39) |
I117T |
probably damaging |
Het |
| Gm5611 |
T |
A |
9: 16,941,989 (GRCm39) |
|
noncoding transcript |
Het |
| Gtf3c4 |
G |
A |
2: 28,717,567 (GRCm39) |
T771I |
probably damaging |
Het |
| Hrh3 |
C |
A |
2: 179,744,643 (GRCm39) |
R99L |
possibly damaging |
Het |
| Hyls1 |
T |
A |
9: 35,472,714 (GRCm39) |
Y234F |
probably damaging |
Het |
| Irak1bp1 |
T |
C |
9: 82,728,728 (GRCm39) |
S220P |
probably benign |
Het |
| Lama1 |
G |
A |
17: 68,071,698 (GRCm39) |
V862I |
probably benign |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Or14a258 |
G |
A |
7: 86,035,733 (GRCm39) |
T45M |
possibly damaging |
Het |
| Or4b12 |
A |
T |
2: 90,096,684 (GRCm39) |
L30H |
probably damaging |
Het |
| Pcdh8 |
T |
C |
14: 80,004,953 (GRCm39) |
D927G |
probably damaging |
Het |
| Prelid3a |
T |
C |
18: 67,605,967 (GRCm39) |
Y25H |
probably damaging |
Het |
| Ptprm |
T |
C |
17: 67,032,808 (GRCm39) |
D1015G |
probably damaging |
Het |
| Rhox3f |
G |
T |
X: 36,763,672 (GRCm39) |
E140* |
probably null |
Het |
| Sec31b |
G |
T |
19: 44,512,968 (GRCm39) |
T507N |
possibly damaging |
Het |
| Stab1 |
C |
T |
14: 30,890,436 (GRCm39) |
R5Q |
probably damaging |
Het |
| Stmn3 |
T |
C |
2: 180,949,089 (GRCm39) |
K135E |
possibly damaging |
Het |
| Synj2 |
G |
A |
17: 6,058,240 (GRCm39) |
G243S |
probably benign |
Het |
| Tasor |
C |
T |
14: 27,181,918 (GRCm39) |
R483* |
probably null |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Tshz2 |
C |
A |
2: 169,727,450 (GRCm39) |
P213Q |
probably benign |
Het |
| Tssk4 |
A |
G |
14: 55,887,830 (GRCm39) |
T9A |
probably benign |
Het |
| Ube4a |
T |
A |
9: 44,860,247 (GRCm39) |
I272F |
probably damaging |
Het |
| Unc79 |
T |
C |
12: 103,025,629 (GRCm39) |
C339R |
probably damaging |
Het |
| Vmn2r87 |
T |
C |
10: 130,315,691 (GRCm39) |
D125G |
probably benign |
Het |
| Yap1 |
A |
T |
9: 7,938,432 (GRCm39) |
*358K |
probably null |
Het |
| Zfp992 |
C |
T |
4: 146,551,976 (GRCm39) |
H566Y |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTTGTGCAAAATCCATGAAGTGAC -3'
(R):5'- TCTGGGATGCCTAATAATTTCCTG -3'
Sequencing Primer
(F):5'- TTGTACTAAACAATGTCTCCTCCTTC -3'
(R):5'- GGATGCCTAATAATTTCCTGGTTTTC -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation