Incidental Mutation 'IGL03070:Miox'
ID |
417475 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Miox
|
Ensembl Gene |
ENSMUSG00000022613 |
Gene Name |
myo-inositol oxygenase |
Synonyms |
RSOR, C85427, 0610009I10Rik, Aldrl6 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.165)
|
Stock # |
IGL03070
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
89218676-89221210 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 89220287 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 160
(T160A)
|
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: T160A
PolyPhen 2
Score 0.476 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000023282 Gene: ENSMUSG00000022613 AA Change: T160A
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam3 |
T |
C |
8: 25,193,800 (GRCm39) |
E404G |
probably damaging |
Het |
Arid1a |
A |
G |
4: 133,422,064 (GRCm39) |
S778P |
unknown |
Het |
Asah2 |
A |
T |
19: 31,983,744 (GRCm39) |
Y567N |
probably damaging |
Het |
Crb1 |
G |
T |
1: 139,168,996 (GRCm39) |
H841N |
possibly damaging |
Het |
Ehbp1l1 |
A |
G |
19: 5,765,981 (GRCm39) |
V1454A |
probably benign |
Het |
Eif3d |
A |
G |
15: 77,843,843 (GRCm39) |
L501P |
probably damaging |
Het |
Fbxo4 |
A |
T |
15: 4,007,344 (GRCm39) |
S107T |
possibly damaging |
Het |
Galnt10 |
T |
C |
11: 57,616,408 (GRCm39) |
Y108H |
probably damaging |
Het |
Hspbap1 |
T |
A |
16: 35,639,096 (GRCm39) |
D263E |
probably damaging |
Het |
Kpna3 |
T |
C |
14: 61,608,231 (GRCm39) |
|
probably benign |
Het |
Mlxipl |
G |
A |
5: 135,161,307 (GRCm39) |
V409M |
possibly damaging |
Het |
Mrps21 |
A |
T |
3: 95,777,897 (GRCm39) |
|
probably benign |
Het |
Muc6 |
A |
G |
7: 141,230,834 (GRCm39) |
|
probably benign |
Het |
Mup6 |
A |
T |
4: 60,003,999 (GRCm39) |
I31F |
probably damaging |
Het |
Or52s1 |
A |
G |
7: 102,861,904 (GRCm39) |
H279R |
probably benign |
Het |
Pabir1 |
A |
C |
19: 24,454,316 (GRCm39) |
D135E |
probably damaging |
Het |
Pgr |
T |
A |
9: 8,903,665 (GRCm39) |
I562N |
possibly damaging |
Het |
Prag1 |
T |
A |
8: 36,570,703 (GRCm39) |
W429R |
probably benign |
Het |
Prrc2c |
G |
T |
1: 162,504,978 (GRCm39) |
P2621Q |
probably damaging |
Het |
Psip1 |
T |
G |
4: 83,383,318 (GRCm39) |
K232N |
probably damaging |
Het |
Ryr1 |
T |
C |
7: 28,770,084 (GRCm39) |
Y2663C |
probably damaging |
Het |
Trhr2 |
T |
A |
8: 123,085,342 (GRCm39) |
Q214L |
probably benign |
Het |
Txndc11 |
A |
T |
16: 10,893,151 (GRCm39) |
Y860N |
probably damaging |
Het |
Uqcc6 |
A |
T |
10: 82,455,950 (GRCm39) |
|
probably benign |
Het |
Vmn2r72 |
C |
T |
7: 85,401,249 (GRCm39) |
|
probably benign |
Het |
Yif1a |
T |
A |
19: 5,138,757 (GRCm39) |
H4Q |
possibly damaging |
Het |
|
Other mutations in Miox |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
|
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 |
2016-08-02 |