Incidental Mutation 'R1383:Miox'
| ID |
163140 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Miox
|
| Ensembl Gene |
ENSMUSG00000022613 |
| Gene Name |
myo-inositol oxygenase |
| Synonyms |
RSOR, C85427, 0610009I10Rik, Aldrl6 |
| MMRRC Submission |
039445-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.158)
|
| Stock # |
R1383 (G1)
|
| Quality Score |
212 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
89218676-89221210 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 89219245 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 29
(R29Q)
|
| 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: R29Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023282
Gene: ENSMUSG00000022613
AA Change: R29Q
| 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 |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.1%
- 20x: 88.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asph |
T |
A |
4: 9,537,807 (GRCm39) |
|
probably null |
Het |
| Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
| Eef1akmt1 |
A |
G |
14: 57,795,489 (GRCm39) |
|
probably null |
Het |
| Ext2 |
T |
C |
2: 93,636,458 (GRCm39) |
T219A |
possibly damaging |
Het |
| F5 |
G |
C |
1: 164,026,486 (GRCm39) |
R1686P |
probably damaging |
Het |
| Fat2 |
G |
A |
11: 55,201,599 (GRCm39) |
H492Y |
probably benign |
Het |
| Glyr1 |
GCTGCC |
G |
16: 4,839,209 (GRCm39) |
|
probably null |
Het |
| Kcmf1 |
A |
G |
6: 72,826,565 (GRCm39) |
F155L |
possibly damaging |
Het |
| Mmrn1 |
A |
G |
6: 60,953,306 (GRCm39) |
Y529C |
probably damaging |
Het |
| Msmo1 |
G |
A |
8: 65,176,679 (GRCm39) |
T116I |
probably benign |
Het |
| Or4c12 |
A |
T |
2: 89,773,895 (GRCm39) |
M188K |
probably benign |
Het |
| Or5aq1b |
A |
G |
2: 86,902,136 (GRCm39) |
L114P |
probably damaging |
Het |
| Or8g2 |
A |
T |
9: 39,821,160 (GRCm39) |
K20N |
probably benign |
Het |
| Or8k40 |
C |
T |
2: 86,584,838 (GRCm39) |
M81I |
possibly damaging |
Het |
| Ptpn6 |
A |
G |
6: 124,698,856 (GRCm39) |
I486T |
probably damaging |
Het |
| Slc12a8 |
T |
C |
16: 33,355,357 (GRCm39) |
F58L |
probably damaging |
Het |
| Slc5a2 |
G |
C |
7: 127,869,803 (GRCm39) |
R412P |
probably damaging |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Snrnp200 |
T |
C |
2: 127,060,331 (GRCm39) |
I525T |
probably benign |
Het |
| Spopfm1 |
A |
G |
3: 94,173,102 (GRCm39) |
M37V |
probably benign |
Het |
| Ugt2b38 |
T |
G |
5: 87,560,232 (GRCm39) |
N361H |
probably damaging |
Het |
| Znrf3 |
G |
C |
11: 5,231,994 (GRCm39) |
F410L |
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 |
|
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'- TTAAGCCGACCTTCGACATGCG -3'
(R):5'- ATGTGGTAAAGACACGATCCAGCAG -3'
Sequencing Primer
(F):5'- CGCAAGGGATGAGATGGTTTATTTAG -3'
(R):5'- CCAGATAGTCAGTGCAGGC -3'
|
| Posted On |
2014-03-17 |
Incidental Mutation