Incidental Mutation 'R2395:Riox1'
ID |
248501 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Riox1
|
Ensembl Gene |
ENSMUSG00000046791 |
Gene Name |
ribosomal oxygenase 1 |
Synonyms |
NO66, 2410016O06Rik |
MMRRC Submission |
040363-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.154)
|
Stock # |
R2395 (G1)
|
Quality Score |
222 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
83997382-83999725 bp(+) (GRCm39) |
Type of Mutation |
start gained |
DNA Base Change (assembly) |
A to T
at 83997418 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000057984
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053744]
[ENSMUST00000164935]
|
AlphaFold |
Q9JJF3 |
Predicted Effect |
probably null
Transcript: ENSMUST00000053744
|
SMART Domains |
Protein: ENSMUSP00000057984 Gene: ENSMUSG00000046791
Domain | Start | End | E-Value | Type |
low complexity region
|
15 |
22 |
N/A |
INTRINSIC |
low complexity region
|
44 |
65 |
N/A |
INTRINSIC |
JmjC
|
266 |
394 |
5.07e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000164935
|
SMART Domains |
Protein: ENSMUSP00000129832 Gene: ENSMUSG00000090843
Domain | Start | End | E-Value | Type |
low complexity region
|
153 |
166 |
N/A |
INTRINSIC |
low complexity region
|
261 |
272 |
N/A |
INTRINSIC |
low complexity region
|
289 |
303 |
N/A |
INTRINSIC |
low complexity region
|
533 |
548 |
N/A |
INTRINSIC |
internal_repeat_1
|
577 |
711 |
2.78e-6 |
PROSPERO |
Pfam:HEAT_2
|
776 |
890 |
1.8e-8 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181399
|
SMART Domains |
Protein: ENSMUSP00000137697 Gene: ENSMUSG00000096953
Domain | Start | End | E-Value | Type |
low complexity region
|
1 |
19 |
N/A |
INTRINSIC |
low complexity region
|
27 |
40 |
N/A |
INTRINSIC |
low complexity region
|
47 |
60 |
N/A |
INTRINSIC |
low complexity region
|
68 |
98 |
N/A |
INTRINSIC |
low complexity region
|
117 |
161 |
N/A |
INTRINSIC |
low complexity region
|
171 |
212 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220615
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221865
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222424
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223215
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.8%
|
Validation Efficiency |
100% (30/30) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele activated in mesenchyme exhibit increased body length and weight, increased ossification with increased bone mass, bone mineral density, and volume, increased osteoblasts; and decrease osteoclasts. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8a |
A |
G |
11: 109,959,614 (GRCm39) |
Y707H |
probably damaging |
Het |
Abcc3 |
A |
G |
11: 94,248,132 (GRCm39) |
V1156A |
possibly damaging |
Het |
Acsl3 |
T |
C |
1: 78,683,085 (GRCm39) |
V661A |
probably benign |
Het |
Atosb |
C |
A |
4: 43,035,964 (GRCm39) |
E256* |
probably null |
Het |
B3glct |
A |
G |
5: 149,677,651 (GRCm39) |
T427A |
probably damaging |
Het |
Cblc |
C |
A |
7: 19,519,305 (GRCm39) |
C341F |
probably damaging |
Het |
Cntn2 |
T |
C |
1: 132,454,110 (GRCm39) |
S299G |
probably benign |
Het |
Dcp1b |
T |
C |
6: 119,192,025 (GRCm39) |
S314P |
probably benign |
Het |
Dnah6 |
T |
C |
6: 73,068,950 (GRCm39) |
|
probably null |
Het |
Fmn1 |
A |
G |
2: 113,195,526 (GRCm39) |
T409A |
unknown |
Het |
Hltf |
C |
T |
3: 20,146,906 (GRCm39) |
A555V |
probably benign |
Het |
Kmt2c |
T |
C |
5: 25,520,150 (GRCm39) |
I1987V |
probably benign |
Het |
Map3k10 |
T |
C |
7: 27,373,418 (GRCm39) |
E11G |
unknown |
Het |
Micu1 |
G |
T |
10: 59,699,024 (GRCm39) |
E434* |
probably null |
Het |
Mlph |
A |
G |
1: 90,861,228 (GRCm39) |
T288A |
probably benign |
Het |
Myh13 |
A |
G |
11: 67,255,748 (GRCm39) |
E1679G |
probably benign |
Het |
Myh15 |
A |
G |
16: 48,889,877 (GRCm39) |
N156S |
probably benign |
Het |
Nab1 |
A |
G |
1: 52,529,741 (GRCm39) |
I52T |
probably damaging |
Het |
Naip1 |
T |
C |
13: 100,559,614 (GRCm39) |
H1130R |
possibly damaging |
Het |
Or10al2 |
T |
G |
17: 37,983,587 (GRCm39) |
Y224* |
probably null |
Het |
Or8k23 |
A |
G |
2: 86,186,609 (GRCm39) |
V39A |
probably benign |
Het |
P2rx2 |
A |
G |
5: 110,489,527 (GRCm39) |
Y136H |
probably damaging |
Het |
Phf8-ps |
T |
C |
17: 33,284,936 (GRCm39) |
E622G |
probably benign |
Het |
Prss40 |
A |
G |
1: 34,598,986 (GRCm39) |
V59A |
possibly damaging |
Het |
Rxrb |
T |
G |
17: 34,256,412 (GRCm39) |
C384W |
probably damaging |
Het |
Srebf2 |
C |
T |
15: 82,076,456 (GRCm39) |
T702I |
probably benign |
Het |
Tmprss5 |
T |
A |
9: 49,026,435 (GRCm39) |
L373* |
probably null |
Het |
Trpm2 |
A |
C |
10: 77,783,714 (GRCm39) |
I253S |
possibly damaging |
Het |
Ush2a |
C |
T |
1: 188,679,237 (GRCm39) |
T4815I |
probably damaging |
Het |
Vmn2r73 |
A |
T |
7: 85,506,975 (GRCm39) |
M779K |
probably damaging |
Het |
|
Other mutations in Riox1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01141:Riox1
|
APN |
12 |
83,998,568 (GRCm39) |
missense |
probably damaging |
1.00 |
R1968:Riox1
|
UTSW |
12 |
83,998,156 (GRCm39) |
missense |
probably damaging |
1.00 |
R2158:Riox1
|
UTSW |
12 |
83,997,709 (GRCm39) |
missense |
probably benign |
0.00 |
R5691:Riox1
|
UTSW |
12 |
83,998,466 (GRCm39) |
missense |
possibly damaging |
0.54 |
R6396:Riox1
|
UTSW |
12 |
83,998,087 (GRCm39) |
missense |
possibly damaging |
0.88 |
R6968:Riox1
|
UTSW |
12 |
83,998,147 (GRCm39) |
missense |
probably damaging |
0.98 |
R7322:Riox1
|
UTSW |
12 |
83,997,442 (GRCm39) |
unclassified |
probably benign |
|
R7520:Riox1
|
UTSW |
12 |
83,998,545 (GRCm39) |
nonsense |
probably null |
|
R9133:Riox1
|
UTSW |
12 |
83,998,221 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TTTTGAAATGCCTCGTGCC -3'
(R):5'- TTCAGCTCCGTCAGTACCTG -3'
Sequencing Primer
(F):5'- GTGCCTTCTTTTCTTACACGGAG -3'
(R):5'- GCCACTTTCGAGTCCGAGTC -3'
|
Posted On |
2014-11-11 |