Incidental Mutation 'IGL02452:Moxd1'
| ID |
293695 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Moxd1
|
| Ensembl Gene |
ENSMUSG00000020000 |
| Gene Name |
monooxygenase, DBH-like 1 |
| Synonyms |
3230402N08Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02452
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
24099415-24178681 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 24158650 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 435
(P435S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093460
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095784]
|
| AlphaFold |
Q9CXI3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095784
AA Change: P435S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000093460
Gene: ENSMUSG00000020000
AA Change: P435S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
DoH
|
59 |
148 |
7.89e-15 |
SMART |
|
Pfam:Cu2_monooxygen
|
186 |
315 |
2.7e-50 |
PFAM |
|
Pfam:Cu2_monoox_C
|
334 |
491 |
2.1e-48 |
PFAM |
|
low complexity region
|
602 |
613 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadm |
C |
A |
3: 153,647,607 (GRCm39) |
V11F |
probably damaging |
Het |
| Alk |
A |
T |
17: 72,209,620 (GRCm39) |
Y941* |
probably null |
Het |
| Blm |
A |
T |
7: 80,153,125 (GRCm39) |
|
probably null |
Het |
| Blvrb |
T |
C |
7: 27,158,765 (GRCm39) |
V55A |
possibly damaging |
Het |
| Cdh23 |
T |
A |
10: 60,153,721 (GRCm39) |
T2288S |
probably damaging |
Het |
| Csnk1g1 |
T |
A |
9: 65,915,067 (GRCm39) |
M242K |
probably damaging |
Het |
| Cyp2c29 |
G |
A |
19: 39,279,291 (GRCm39) |
G96D |
possibly damaging |
Het |
| Cyp2d26 |
T |
A |
15: 82,676,827 (GRCm39) |
H173L |
probably benign |
Het |
| Cyp2g1 |
T |
A |
7: 26,510,871 (GRCm39) |
S131T |
probably benign |
Het |
| Dusp29 |
G |
A |
14: 21,752,990 (GRCm39) |
T52I |
probably damaging |
Het |
| Dzip3 |
T |
A |
16: 48,758,900 (GRCm39) |
|
probably benign |
Het |
| Espl1 |
T |
C |
15: 102,208,274 (GRCm39) |
S427P |
probably damaging |
Het |
| Fasn |
A |
T |
11: 120,699,006 (GRCm39) |
D2424E |
probably benign |
Het |
| Flrt2 |
G |
A |
12: 95,746,257 (GRCm39) |
M198I |
probably benign |
Het |
| Gen1 |
A |
T |
12: 11,292,576 (GRCm39) |
S404R |
probably benign |
Het |
| Gm11596 |
A |
T |
11: 99,683,806 (GRCm39) |
C105S |
unknown |
Het |
| Hdlbp |
A |
T |
1: 93,345,233 (GRCm39) |
V714D |
probably damaging |
Het |
| Igkv4-80 |
A |
G |
6: 68,993,816 (GRCm39) |
V25A |
probably benign |
Het |
| Igkv8-27 |
C |
T |
6: 70,148,925 (GRCm39) |
W76* |
probably null |
Het |
| Ikzf1 |
T |
C |
11: 11,698,545 (GRCm39) |
L132P |
probably damaging |
Het |
| Kcna6 |
C |
A |
6: 126,715,443 (GRCm39) |
C482F |
possibly damaging |
Het |
| Lhx9 |
A |
T |
1: 138,769,580 (GRCm39) |
L47Q |
probably damaging |
Het |
| Lrp4 |
T |
A |
2: 91,304,347 (GRCm39) |
D175E |
probably damaging |
Het |
| Lrrtm3 |
T |
C |
10: 63,923,815 (GRCm39) |
K451E |
probably damaging |
Het |
| Mcm9 |
C |
T |
10: 53,417,653 (GRCm39) |
V17M |
probably damaging |
Het |
| Mios |
T |
A |
6: 8,222,492 (GRCm39) |
S475R |
probably benign |
Het |
| Mmp24 |
C |
T |
2: 155,657,708 (GRCm39) |
R533C |
probably damaging |
Het |
| Mta2 |
T |
A |
19: 8,927,670 (GRCm39) |
I497N |
probably benign |
Het |
| Mtus2 |
T |
C |
5: 148,014,473 (GRCm39) |
V422A |
probably benign |
Het |
| Ndufaf1 |
A |
T |
2: 119,486,907 (GRCm39) |
F260Y |
probably damaging |
Het |
| Nfasc |
C |
T |
1: 132,548,662 (GRCm39) |
|
probably null |
Het |
| Nid1 |
A |
T |
13: 13,683,305 (GRCm39) |
T1128S |
probably benign |
Het |
| Odad2 |
C |
T |
18: 7,129,461 (GRCm39) |
E906K |
probably damaging |
Het |
| Or51f1d |
A |
G |
7: 102,701,138 (GRCm39) |
D211G |
probably benign |
Het |
| Pcdh12 |
G |
A |
18: 38,414,746 (GRCm39) |
P793L |
probably benign |
Het |
| Pclo |
A |
T |
5: 14,726,980 (GRCm39) |
|
probably benign |
Het |
| Prpf31 |
T |
A |
7: 3,637,185 (GRCm39) |
N161K |
possibly damaging |
Het |
| Prpf6 |
T |
G |
2: 181,290,878 (GRCm39) |
N656K |
probably benign |
Het |
| Ptprn |
T |
A |
1: 75,234,813 (GRCm39) |
H258L |
probably benign |
Het |
| Rab19 |
A |
G |
6: 39,366,732 (GRCm39) |
T216A |
probably benign |
Het |
| Ryr3 |
A |
C |
2: 112,664,335 (GRCm39) |
L1652W |
probably damaging |
Het |
| Six2 |
A |
C |
17: 85,992,806 (GRCm39) |
S232R |
possibly damaging |
Het |
| Spag17 |
T |
C |
3: 99,934,707 (GRCm39) |
V663A |
probably benign |
Het |
| Spag5 |
A |
G |
11: 78,195,449 (GRCm39) |
N252S |
probably benign |
Het |
| Spata31e4 |
A |
T |
13: 50,857,113 (GRCm39) |
H917L |
probably damaging |
Het |
| Sptb |
C |
T |
12: 76,655,810 (GRCm39) |
|
probably null |
Het |
| Synj1 |
A |
G |
16: 90,758,253 (GRCm39) |
|
probably benign |
Het |
| Tekt2 |
T |
C |
4: 126,218,645 (GRCm39) |
H36R |
possibly damaging |
Het |
| Tjp1 |
A |
T |
7: 64,962,403 (GRCm39) |
M1258K |
probably damaging |
Het |
| Txnrd3 |
T |
C |
6: 89,651,777 (GRCm39) |
*502Q |
probably null |
Het |
|
| Other mutations in Moxd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00091:Moxd1
|
APN |
10 |
24,155,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00227:Moxd1
|
APN |
10 |
24,158,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00331:Moxd1
|
APN |
10 |
24,158,453 (GRCm39) |
splice site |
probably benign |
|
|
IGL01074:Moxd1
|
APN |
10 |
24,155,282 (GRCm39) |
missense |
probably benign |
0.45 |
|
IGL01462:Moxd1
|
APN |
10 |
24,120,286 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01777:Moxd1
|
APN |
10 |
24,128,494 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02051:Moxd1
|
APN |
10 |
24,128,916 (GRCm39) |
splice site |
probably null |
|
|
IGL02272:Moxd1
|
APN |
10 |
24,158,598 (GRCm39) |
nonsense |
probably null |
|
|
IGL02343:Moxd1
|
APN |
10 |
24,155,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02425:Moxd1
|
APN |
10 |
24,155,334 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02448:Moxd1
|
APN |
10 |
24,158,617 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03301:Moxd1
|
APN |
10 |
24,155,382 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0631:Moxd1
|
UTSW |
10 |
24,128,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1436:Moxd1
|
UTSW |
10 |
24,120,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1484:Moxd1
|
UTSW |
10 |
24,099,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1574:Moxd1
|
UTSW |
10 |
24,176,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1574:Moxd1
|
UTSW |
10 |
24,176,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1713:Moxd1
|
UTSW |
10 |
24,157,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1954:Moxd1
|
UTSW |
10 |
24,155,781 (GRCm39) |
missense |
probably benign |
0.17 |
|
R3115:Moxd1
|
UTSW |
10 |
24,177,429 (GRCm39) |
nonsense |
probably null |
|
|
R3116:Moxd1
|
UTSW |
10 |
24,177,429 (GRCm39) |
nonsense |
probably null |
|
|
R5183:Moxd1
|
UTSW |
10 |
24,163,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5183:Moxd1
|
UTSW |
10 |
24,155,445 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5322:Moxd1
|
UTSW |
10 |
24,120,151 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5728:Moxd1
|
UTSW |
10 |
24,099,581 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5824:Moxd1
|
UTSW |
10 |
24,162,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6158:Moxd1
|
UTSW |
10 |
24,160,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6322:Moxd1
|
UTSW |
10 |
24,160,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6662:Moxd1
|
UTSW |
10 |
24,160,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6827:Moxd1
|
UTSW |
10 |
24,155,748 (GRCm39) |
missense |
probably benign |
0.29 |
|
R6928:Moxd1
|
UTSW |
10 |
24,176,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7048:Moxd1
|
UTSW |
10 |
24,157,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7320:Moxd1
|
UTSW |
10 |
24,177,363 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7736:Moxd1
|
UTSW |
10 |
24,158,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8060:Moxd1
|
UTSW |
10 |
24,177,510 (GRCm39) |
missense |
unknown |
|
|
R8073:Moxd1
|
UTSW |
10 |
24,128,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8089:Moxd1
|
UTSW |
10 |
24,157,417 (GRCm39) |
missense |
probably benign |
0.43 |
|
R8255:Moxd1
|
UTSW |
10 |
24,099,700 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8314:Moxd1
|
UTSW |
10 |
24,128,438 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9039:Moxd1
|
UTSW |
10 |
24,155,251 (GRCm39) |
splice site |
probably benign |
|
|
R9099:Moxd1
|
UTSW |
10 |
24,155,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9306:Moxd1
|
UTSW |
10 |
24,128,824 (GRCm39) |
splice site |
probably benign |
|
|
R9657:Moxd1
|
UTSW |
10 |
24,128,485 (GRCm39) |
missense |
probably benign |
0.16 |
|
X0063:Moxd1
|
UTSW |
10 |
24,128,398 (GRCm39) |
missense |
probably benign |
0.18 |
|
Z1177:Moxd1
|
UTSW |
10 |
24,160,702 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation