Incidental Mutation 'R0011:Miox'
| ID |
7974 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Miox
|
| Ensembl Gene |
ENSMUSG00000022613 |
| Gene Name |
myo-inositol oxygenase |
| Synonyms |
RSOR, C85427, 0610009I10Rik, Aldrl6 |
| MMRRC Submission |
038306-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.158)
|
| Stock # |
R0011 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
89218676-89221210 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 89220477 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 189
(L189F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023282
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023282]
[ENSMUST00000162756]
|
| AlphaFold |
Q9QXN5 |
| PDB Structure |
Crystal structure of mouse myo-inositol oxygenase in complex with substrate [X-RAY DIFFRACTION]
Crystal structure of Mouse Myo-inositol oxygenase (re-refined) [X-RAY DIFFRACTION]
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023282
AA Change: L189F
PolyPhen 2
Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000023282
Gene: ENSMUSG00000022613
AA Change: L189F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MIOX
|
31 |
285 |
2.1e-125 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159381
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160491
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161437
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162033
|
| SMART Domains |
Protein: ENSMUSP00000123732
Gene: ENSMUSG00000022613
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MIOX
|
1 |
53 |
7.2e-20 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162756
|
| SMART Domains |
Protein: ENSMUSP00000125302
Gene: ENSMUSG00000022613
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF706
|
40 |
128 |
8.7e-30 |
PFAM |
|
| Meta Mutation Damage Score |
0.5379 |
| Coding Region Coverage |
- 1x: 78.3%
- 3x: 67.8%
- 10x: 41.6%
- 20x: 22.3%
|
| Validation Efficiency |
92% (85/92) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank3 |
A |
G |
10: 69,815,281 (GRCm39) |
|
probably benign |
Het |
| Art3 |
T |
A |
5: 92,551,471 (GRCm39) |
Y17N |
probably damaging |
Het |
| Asic3 |
C |
T |
5: 24,622,490 (GRCm39) |
|
probably benign |
Het |
| Brip1 |
C |
A |
11: 86,077,824 (GRCm39) |
K201N |
possibly damaging |
Het |
| Ccdc88a |
T |
C |
11: 29,324,364 (GRCm39) |
F6S |
probably damaging |
Het |
| Cdcp3 |
T |
A |
7: 130,831,722 (GRCm39) |
L389Q |
probably damaging |
Het |
| Cfap54 |
A |
T |
10: 92,901,087 (GRCm39) |
C156S |
probably damaging |
Het |
| Chia1 |
A |
G |
3: 106,038,290 (GRCm39) |
|
probably benign |
Het |
| Cops4 |
C |
A |
5: 100,675,847 (GRCm39) |
Q28K |
probably benign |
Het |
| Dnai7 |
T |
A |
6: 145,124,781 (GRCm39) |
M515L |
probably damaging |
Het |
| Epha7 |
G |
A |
4: 28,962,564 (GRCm39) |
D961N |
probably benign |
Het |
| Grin2c |
T |
C |
11: 115,146,576 (GRCm39) |
Y476C |
probably damaging |
Het |
| Ift70a2 |
T |
A |
2: 75,806,561 (GRCm39) |
R650S |
probably damaging |
Het |
| Igf2bp1 |
T |
C |
11: 95,896,410 (GRCm39) |
D17G |
probably damaging |
Het |
| Kidins220 |
T |
A |
12: 25,049,351 (GRCm39) |
V322E |
probably damaging |
Het |
| Krt35 |
T |
A |
11: 99,984,502 (GRCm39) |
Q331L |
probably benign |
Het |
| Mrc1 |
T |
C |
2: 14,266,148 (GRCm39) |
|
probably null |
Het |
| Msh2 |
T |
C |
17: 87,987,521 (GRCm39) |
|
probably benign |
Het |
| Ncoa1 |
A |
C |
12: 4,372,896 (GRCm39) |
F57L |
possibly damaging |
Het |
| Npy4r |
C |
T |
14: 33,868,680 (GRCm39) |
V203M |
probably damaging |
Het |
| Pcdhgb8 |
T |
C |
18: 37,897,335 (GRCm39) |
S802P |
probably benign |
Het |
| Ralgapa1 |
A |
G |
12: 55,833,048 (GRCm39) |
S152P |
probably damaging |
Het |
| Rasgef1b |
T |
C |
5: 99,380,213 (GRCm39) |
Y344C |
probably damaging |
Het |
| Rdh19 |
T |
A |
10: 127,692,780 (GRCm39) |
L149Q |
probably damaging |
Het |
| Shtn1 |
A |
G |
19: 59,020,650 (GRCm39) |
S191P |
possibly damaging |
Het |
| Tmem202 |
T |
A |
9: 59,432,084 (GRCm39) |
N81I |
probably benign |
Het |
| Trim58 |
A |
T |
11: 58,533,946 (GRCm39) |
T167S |
probably benign |
Het |
| Trp53i11 |
A |
T |
2: 93,029,698 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
C |
2: 76,640,699 (GRCm39) |
H5356R |
probably damaging |
Het |
| Tyrp1 |
C |
T |
4: 80,759,030 (GRCm39) |
T301I |
probably damaging |
Het |
| Wdr17 |
A |
T |
8: 55,125,536 (GRCm39) |
I448K |
possibly damaging |
Het |
| Wscd1 |
T |
C |
11: 71,679,654 (GRCm39) |
V509A |
probably damaging |
Het |
| Zfp251 |
A |
G |
15: 76,738,754 (GRCm39) |
V108A |
probably benign |
Het |
|
| Other mutations in Miox |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03070:Miox
|
APN |
15 |
89,220,287 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R0001:Miox
|
UTSW |
15 |
89,220,477 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R0011:Miox
|
UTSW |
15 |
89,220,477 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R0039:Miox
|
UTSW |
15 |
89,220,477 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R0043:Miox
|
UTSW |
15 |
89,220,477 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R0079:Miox
|
UTSW |
15 |
89,220,477 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R0081:Miox
|
UTSW |
15 |
89,220,477 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R0109:Miox
|
UTSW |
15 |
89,219,784 (GRCm39) |
missense |
probably benign |
0.17 |
|
R0109:Miox
|
UTSW |
15 |
89,219,784 (GRCm39) |
missense |
probably benign |
0.17 |
|
R0134:Miox
|
UTSW |
15 |
89,218,657 (GRCm39) |
unclassified |
probably benign |
|
|
R0166:Miox
|
UTSW |
15 |
89,220,477 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R0172:Miox
|
UTSW |
15 |
89,220,477 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R0173:Miox
|
UTSW |
15 |
89,220,477 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R0225:Miox
|
UTSW |
15 |
89,218,657 (GRCm39) |
unclassified |
probably benign |
|
|
R0284:Miox
|
UTSW |
15 |
89,220,477 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R0285:Miox
|
UTSW |
15 |
89,220,477 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R0288:Miox
|
UTSW |
15 |
89,220,477 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R0681:Miox
|
UTSW |
15 |
89,220,477 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1383:Miox
|
UTSW |
15 |
89,219,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4620:Miox
|
UTSW |
15 |
89,220,324 (GRCm39) |
missense |
probably benign |
0.43 |
|
R5016:Miox
|
UTSW |
15 |
89,219,767 (GRCm39) |
missense |
probably null |
1.00 |
|
R5110:Miox
|
UTSW |
15 |
89,219,759 (GRCm39) |
missense |
probably benign |
|
|
R5393:Miox
|
UTSW |
15 |
89,220,450 (GRCm39) |
nonsense |
probably null |
|
|
R6136:Miox
|
UTSW |
15 |
89,219,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6339:Miox
|
UTSW |
15 |
89,219,702 (GRCm39) |
nonsense |
probably null |
|
|
R7309:Miox
|
UTSW |
15 |
89,220,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7402:Miox
|
UTSW |
15 |
89,219,206 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7891:Miox
|
UTSW |
15 |
89,220,742 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7913:Miox
|
UTSW |
15 |
89,220,785 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9136:Miox
|
UTSW |
15 |
89,220,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9660:Miox
|
UTSW |
15 |
89,218,703 (GRCm39) |
unclassified |
probably benign |
|
|
R9711:Miox
|
UTSW |
15 |
89,220,785 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9728:Miox
|
UTSW |
15 |
89,218,703 (GRCm39) |
unclassified |
probably benign |
|
|
Z1177:Miox
|
UTSW |
15 |
89,219,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-11-20 |
Incidental Mutation