Incidental Mutation 'IGL02448:Moxd1'
| ID |
293589 |
| 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 # |
IGL02448
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
24099415-24178681 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 24158617 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 424
(F424L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093460
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095784]
|
| AlphaFold |
Q9CXI3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095784
AA Change: F424L
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000093460
Gene: ENSMUSG00000020000
AA Change: F424L
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Angptl6 |
T |
A |
9: 20,786,866 (GRCm39) |
I286F |
probably damaging |
Het |
| Arhgap5 |
A |
G |
12: 52,609,123 (GRCm39) |
E1366G |
probably damaging |
Het |
| Blzf1 |
T |
A |
1: 164,123,350 (GRCm39) |
I326F |
possibly damaging |
Het |
| Cc2d2a |
A |
C |
5: 43,840,547 (GRCm39) |
|
probably benign |
Het |
| Cdc37 |
T |
C |
9: 21,051,147 (GRCm39) |
E366G |
possibly damaging |
Het |
| Cdh17 |
T |
C |
4: 11,784,680 (GRCm39) |
S279P |
probably benign |
Het |
| Cdh18 |
T |
C |
15: 23,173,875 (GRCm39) |
S30P |
probably benign |
Het |
| Cep192 |
A |
G |
18: 68,002,518 (GRCm39) |
T2238A |
probably benign |
Het |
| Cpped1 |
C |
T |
16: 11,623,253 (GRCm39) |
E289K |
probably benign |
Het |
| Ctsq |
A |
T |
13: 61,184,044 (GRCm39) |
Y293N |
probably damaging |
Het |
| Epb41l2 |
A |
G |
10: 25,369,493 (GRCm39) |
N20S |
possibly damaging |
Het |
| Gcc2 |
T |
A |
10: 58,128,393 (GRCm39) |
C1304* |
probably null |
Het |
| Hsd3b5 |
C |
T |
3: 98,529,447 (GRCm39) |
G61E |
probably damaging |
Het |
| Igfals |
A |
T |
17: 25,099,161 (GRCm39) |
N84I |
probably damaging |
Het |
| Irs2 |
A |
T |
8: 11,057,862 (GRCm39) |
V190D |
probably benign |
Het |
| Kank1 |
T |
A |
19: 25,388,739 (GRCm39) |
L804Q |
probably damaging |
Het |
| Kcnj2 |
G |
T |
11: 110,963,108 (GRCm39) |
V167L |
probably benign |
Het |
| Kif20a |
T |
C |
18: 34,761,507 (GRCm39) |
V300A |
possibly damaging |
Het |
| Kmt2d |
T |
C |
15: 98,741,991 (GRCm39) |
|
probably benign |
Het |
| Mpeg1 |
A |
C |
19: 12,439,973 (GRCm39) |
D477A |
probably benign |
Het |
| Mtmr10 |
A |
T |
7: 63,957,898 (GRCm39) |
Y166F |
probably damaging |
Het |
| Muc5b |
T |
G |
7: 141,422,226 (GRCm39) |
I4454S |
possibly damaging |
Het |
| Ntng1 |
G |
A |
3: 109,841,875 (GRCm39) |
|
probably benign |
Het |
| Or52r1b |
T |
C |
7: 102,691,604 (GRCm39) |
I306T |
possibly damaging |
Het |
| Or7e175 |
T |
A |
9: 20,048,937 (GRCm39) |
L175* |
probably null |
Het |
| Pex11a |
A |
T |
7: 79,387,208 (GRCm39) |
|
probably null |
Het |
| Plcg2 |
A |
G |
8: 118,333,960 (GRCm39) |
D911G |
probably benign |
Het |
| Rc3h2 |
T |
C |
2: 37,279,817 (GRCm39) |
T471A |
probably benign |
Het |
| Rif1 |
T |
A |
2: 52,006,708 (GRCm39) |
L2214Q |
probably damaging |
Het |
| Rtel1 |
T |
A |
2: 180,977,830 (GRCm39) |
S120T |
probably benign |
Het |
| Ryr1 |
A |
G |
7: 28,804,491 (GRCm39) |
|
probably benign |
Het |
| Sh3yl1 |
G |
T |
12: 30,989,666 (GRCm39) |
A129S |
probably damaging |
Het |
| Slc25a10 |
A |
G |
11: 120,387,879 (GRCm39) |
T191A |
probably benign |
Het |
| Slc8b1 |
T |
C |
5: 120,663,856 (GRCm39) |
S359P |
probably damaging |
Het |
| Srf |
T |
C |
17: 46,866,349 (GRCm39) |
T136A |
possibly damaging |
Het |
| Stx1a |
G |
T |
5: 135,052,473 (GRCm39) |
|
probably benign |
Het |
| Taf1d |
T |
A |
9: 15,221,690 (GRCm39) |
C224* |
probably null |
Het |
| Tnik |
A |
G |
3: 28,675,226 (GRCm39) |
S700G |
probably null |
Het |
| Ttn |
T |
C |
2: 76,773,331 (GRCm39) |
H2357R |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,566,458 (GRCm39) |
E28145G |
probably damaging |
Het |
| Ush1c |
C |
A |
7: 45,858,561 (GRCm39) |
V576F |
possibly damaging |
Het |
| Xpc |
T |
C |
6: 91,492,726 (GRCm39) |
E19G |
probably benign |
Het |
| Zdhhc25 |
G |
A |
15: 88,485,045 (GRCm39) |
V127M |
probably damaging |
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 |
|
IGL02452:Moxd1
|
APN |
10 |
24,158,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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