Incidental Mutation 'R6136:Miox'
ID |
488373 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Miox
|
Ensembl Gene |
ENSMUSG00000022613 |
Gene Name |
myo-inositol oxygenase |
Synonyms |
RSOR, C85427, 0610009I10Rik, Aldrl6 |
MMRRC Submission |
044283-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.158)
|
Stock # |
R6136 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
89218676-89221210 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 89219524 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 47
(M47T)
|
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 |
probably damaging
Transcript: ENSMUST00000023282
AA Change: M47T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000023282 Gene: ENSMUSG00000022613 AA Change: M47T
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 |
0.7180 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.0%
|
Validation Efficiency |
98% (52/53) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3100002H09Rik |
C |
A |
4: 124,504,181 (GRCm39) |
G124C |
unknown |
Het |
3425401B19Rik |
A |
T |
14: 32,384,239 (GRCm39) |
D575E |
possibly damaging |
Het |
Abca15 |
A |
T |
7: 119,939,272 (GRCm39) |
H222L |
possibly damaging |
Het |
Arhgef18 |
T |
C |
8: 3,504,507 (GRCm39) |
V1013A |
probably benign |
Het |
Arsj |
T |
C |
3: 126,158,424 (GRCm39) |
M1T |
probably null |
Het |
Atp10a |
A |
C |
7: 58,478,088 (GRCm39) |
Q1377P |
probably benign |
Het |
Atrip |
T |
A |
9: 108,900,804 (GRCm39) |
E178D |
probably damaging |
Het |
Cblif |
G |
A |
19: 11,727,649 (GRCm39) |
A158T |
probably damaging |
Het |
Chadl |
T |
C |
15: 81,577,755 (GRCm39) |
N625D |
probably benign |
Het |
Chrng |
G |
A |
1: 87,137,523 (GRCm39) |
V320I |
probably benign |
Het |
Cox11 |
T |
C |
11: 90,535,221 (GRCm39) |
L84P |
probably damaging |
Het |
Dchs1 |
T |
G |
7: 105,410,132 (GRCm39) |
T1747P |
probably benign |
Het |
Dnah12 |
A |
G |
14: 26,597,227 (GRCm39) |
K3529E |
probably damaging |
Het |
Ecd |
T |
C |
14: 20,370,859 (GRCm39) |
N620S |
probably damaging |
Het |
Fbn1 |
T |
A |
2: 125,245,052 (GRCm39) |
K278N |
possibly damaging |
Het |
Fcho2 |
T |
C |
13: 98,926,275 (GRCm39) |
K103E |
probably damaging |
Het |
Fzd7 |
T |
G |
1: 59,522,419 (GRCm39) |
F101V |
probably damaging |
Het |
Galnt13 |
G |
T |
2: 54,406,491 (GRCm39) |
|
probably benign |
Het |
Gm32647 |
C |
T |
7: 94,124,939 (GRCm39) |
|
|
Het |
Gm5624 |
A |
T |
14: 44,797,333 (GRCm39) |
D152E |
probably benign |
Het |
Heatr6 |
T |
A |
11: 83,663,329 (GRCm39) |
V664E |
possibly damaging |
Het |
Hpgd |
A |
G |
8: 56,747,987 (GRCm39) |
D36G |
probably damaging |
Het |
Ifnlr1 |
A |
G |
4: 135,431,108 (GRCm39) |
T199A |
possibly damaging |
Het |
Kalrn |
T |
G |
16: 34,177,481 (GRCm39) |
D228A |
probably damaging |
Het |
Nampt |
A |
T |
12: 32,880,301 (GRCm39) |
I65F |
probably benign |
Het |
Ncf1 |
T |
C |
5: 134,255,487 (GRCm39) |
K135E |
probably damaging |
Het |
Nop53 |
G |
A |
7: 15,672,314 (GRCm39) |
Q452* |
probably null |
Het |
Or8u10 |
A |
G |
2: 85,915,245 (GRCm39) |
L292S |
probably damaging |
Het |
Pik3cg |
A |
G |
12: 32,254,358 (GRCm39) |
V543A |
probably benign |
Het |
Ralgds |
T |
C |
2: 28,440,577 (GRCm39) |
|
probably null |
Het |
Rap1a |
A |
G |
3: 105,657,598 (GRCm39) |
V7A |
probably damaging |
Het |
Rasal1 |
T |
C |
5: 120,813,543 (GRCm39) |
V639A |
possibly damaging |
Het |
Rassf8 |
A |
G |
6: 145,761,382 (GRCm39) |
N236S |
probably benign |
Het |
Rbm47 |
G |
C |
5: 66,183,626 (GRCm39) |
R326G |
probably damaging |
Het |
Sbno1 |
T |
C |
5: 124,516,554 (GRCm39) |
D1272G |
probably benign |
Het |
Setx |
A |
G |
2: 29,038,039 (GRCm39) |
D1508G |
probably benign |
Het |
Slc1a1 |
T |
A |
19: 28,882,810 (GRCm39) |
L358Q |
probably damaging |
Het |
Slc7a12 |
C |
A |
3: 14,564,186 (GRCm39) |
L20I |
probably benign |
Het |
Spata31g1 |
T |
C |
4: 42,972,853 (GRCm39) |
S729P |
probably damaging |
Het |
Spats2l |
C |
T |
1: 57,941,302 (GRCm39) |
T187M |
probably damaging |
Het |
Specc1l |
A |
G |
10: 75,082,494 (GRCm39) |
D647G |
probably benign |
Het |
Steap4 |
G |
A |
5: 8,028,562 (GRCm39) |
R380Q |
probably damaging |
Het |
Syne2 |
A |
G |
12: 75,952,099 (GRCm39) |
S456G |
probably benign |
Het |
Tfcp2 |
G |
T |
15: 100,410,194 (GRCm39) |
T391N |
probably damaging |
Het |
Tns2 |
T |
A |
15: 102,015,465 (GRCm39) |
D122E |
probably damaging |
Het |
Tshr |
A |
G |
12: 91,505,008 (GRCm39) |
M649V |
probably benign |
Het |
Ubr3 |
A |
G |
2: 69,824,107 (GRCm39) |
T1440A |
probably benign |
Het |
Urb2 |
A |
G |
8: 124,756,831 (GRCm39) |
D846G |
probably benign |
Het |
Vmn1r202 |
T |
C |
13: 22,685,632 (GRCm39) |
T262A |
possibly damaging |
Het |
Vmn2r61 |
G |
T |
7: 41,916,455 (GRCm39) |
W356L |
probably damaging |
Het |
Wdr11 |
T |
A |
7: 129,220,427 (GRCm39) |
M605K |
possibly damaging |
Het |
Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
probably damaging |
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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTCTTCCCGAAGCTCTAAAGGG -3'
(R):5'- AGCCTCCATGATGGTCATCTTC -3'
Sequencing Primer
(F):5'- GATATATGGCCTGCAGCA -3'
(R):5'- CTTGTAAGAGAAGCTTCCATACTGG -3'
|
Posted On |
2017-10-10 |