Incidental Mutation 'R0681:Miox'
ID |
60979 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Miox
|
Ensembl Gene |
ENSMUSG00000022613 |
Gene Name |
myo-inositol oxygenase |
Synonyms |
RSOR, C85427, 0610009I10Rik, Aldrl6 |
MMRRC Submission |
038866-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.158)
|
Stock # |
R0681 (G1)
|
Quality Score |
157 |
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: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.3%
|
Validation Efficiency |
100% (68/68) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrl1 |
G |
T |
8: 84,661,279 (GRCm39) |
|
probably benign |
Het |
Adgrv1 |
C |
A |
13: 81,676,649 (GRCm39) |
D1341Y |
probably damaging |
Het |
Ahdc1 |
T |
C |
4: 132,792,827 (GRCm39) |
F1356S |
possibly damaging |
Het |
Cdk13 |
A |
G |
13: 17,895,882 (GRCm39) |
|
probably benign |
Het |
Cfhr1 |
A |
T |
1: 139,485,249 (GRCm39) |
S66T |
probably damaging |
Het |
Cldn6 |
C |
A |
17: 23,900,167 (GRCm39) |
Q44K |
probably damaging |
Het |
Cntnap5c |
T |
C |
17: 58,612,550 (GRCm39) |
V863A |
possibly damaging |
Het |
Col6a4 |
T |
A |
9: 105,944,343 (GRCm39) |
K1044* |
probably null |
Het |
Cyb561d1 |
A |
G |
3: 108,106,583 (GRCm39) |
V212A |
probably benign |
Het |
Cyp1b1 |
A |
G |
17: 80,021,275 (GRCm39) |
S156P |
probably damaging |
Het |
Dock7 |
G |
A |
4: 98,904,941 (GRCm39) |
H645Y |
probably damaging |
Het |
Dpp3 |
T |
C |
19: 4,964,682 (GRCm39) |
N542D |
probably damaging |
Het |
Fastkd3 |
C |
T |
13: 68,740,047 (GRCm39) |
|
probably benign |
Het |
Galnt10 |
T |
A |
11: 57,660,366 (GRCm39) |
V268D |
probably damaging |
Het |
Grb14 |
G |
T |
2: 64,747,631 (GRCm39) |
A10E |
probably damaging |
Het |
Grin2c |
A |
G |
11: 115,140,479 (GRCm39) |
V1213A |
probably benign |
Het |
Grip1 |
C |
T |
10: 119,846,135 (GRCm39) |
T570I |
probably damaging |
Het |
Hif1an |
T |
C |
19: 44,551,762 (GRCm39) |
Y71H |
probably benign |
Het |
Hsd17b11 |
T |
A |
5: 104,151,072 (GRCm39) |
I221L |
probably benign |
Het |
Htra1 |
A |
T |
7: 130,581,027 (GRCm39) |
|
probably benign |
Het |
Igfn1 |
T |
C |
1: 135,891,591 (GRCm39) |
E2308G |
possibly damaging |
Het |
Mapk9 |
T |
A |
11: 49,760,072 (GRCm39) |
S129T |
probably damaging |
Het |
Med22 |
T |
C |
2: 26,800,391 (GRCm39) |
T13A |
probably benign |
Het |
Mtus1 |
A |
T |
8: 41,446,554 (GRCm39) |
L489Q |
probably damaging |
Het |
Naprt |
G |
A |
15: 75,765,481 (GRCm39) |
P120S |
probably damaging |
Het |
Nwd1 |
C |
T |
8: 73,388,965 (GRCm39) |
P172L |
probably damaging |
Het |
Ogfod2 |
A |
G |
5: 124,250,907 (GRCm39) |
E62G |
probably null |
Het |
Or13a1 |
A |
T |
6: 116,471,361 (GRCm39) |
S264C |
probably damaging |
Het |
Or5b12b |
A |
G |
19: 12,861,910 (GRCm39) |
T222A |
probably damaging |
Het |
Or5b12b |
T |
C |
19: 12,861,443 (GRCm39) |
L66P |
probably damaging |
Het |
Palm |
A |
C |
10: 79,655,327 (GRCm39) |
T362P |
probably benign |
Het |
Pcare |
T |
G |
17: 72,056,509 (GRCm39) |
H1056P |
probably benign |
Het |
Pcdh8 |
T |
C |
14: 80,007,400 (GRCm39) |
T388A |
probably benign |
Het |
Pclo |
A |
G |
5: 14,725,332 (GRCm39) |
I1397V |
unknown |
Het |
Per1 |
A |
G |
11: 68,992,027 (GRCm39) |
E127G |
probably damaging |
Het |
Plekha1 |
T |
C |
7: 130,502,353 (GRCm39) |
V30A |
possibly damaging |
Het |
Pramel24 |
A |
T |
4: 143,454,622 (GRCm39) |
T307S |
probably benign |
Het |
Rab26 |
A |
G |
17: 24,746,940 (GRCm39) |
|
probably benign |
Het |
Rasal2 |
T |
C |
1: 156,984,750 (GRCm39) |
D999G |
possibly damaging |
Het |
Rfx5 |
C |
T |
3: 94,863,666 (GRCm39) |
T105I |
probably damaging |
Het |
Rrp1b |
T |
C |
17: 32,279,369 (GRCm39) |
S677P |
probably damaging |
Het |
Scaf4 |
G |
A |
16: 90,046,582 (GRCm39) |
P485S |
unknown |
Het |
Scn5a |
A |
T |
9: 119,368,706 (GRCm39) |
M273K |
probably damaging |
Het |
Sec22a |
C |
T |
16: 35,181,926 (GRCm39) |
|
probably null |
Het |
Slc10a6 |
C |
A |
5: 103,760,315 (GRCm39) |
V227F |
possibly damaging |
Het |
Slc39a3 |
C |
G |
10: 80,869,565 (GRCm39) |
E31Q |
probably benign |
Het |
Spsb1 |
C |
T |
4: 149,991,374 (GRCm39) |
V65I |
probably benign |
Het |
Tdrd7 |
T |
A |
4: 46,016,879 (GRCm39) |
M673K |
probably benign |
Het |
Trim8 |
C |
A |
19: 46,503,532 (GRCm39) |
S361R |
possibly damaging |
Het |
Ucp1 |
T |
A |
8: 84,021,936 (GRCm39) |
M256K |
possibly damaging |
Het |
Vmn1r46 |
A |
T |
6: 89,953,946 (GRCm39) |
D265V |
probably damaging |
Het |
Zbtb5 |
T |
C |
4: 44,993,787 (GRCm39) |
I532M |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGACCTCTTTAGCCCTCACTCACAG -3'
(R):5'- ACGGACTTGAACTCTTGCACCCAG -3'
Sequencing Primer
(F):5'- TGTTGGAGACACGTTCCC -3'
(R):5'- AGCATATCCAGGTCCTGCTG -3'
|
Posted On |
2013-07-30 |