Incidental Mutation 'IGL01074:Moxd1'
ID |
52055 |
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 # |
IGL01074
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
24099415-24178681 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 24155282 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 228
(R228G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000093460
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095784]
|
AlphaFold |
Q9CXI3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000095784
AA Change: R228G
PolyPhen 2
Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000093460 Gene: ENSMUSG00000020000 AA Change: R228G
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
A |
G |
10: 79,849,726 (GRCm39) |
D1934G |
possibly damaging |
Het |
Adcy2 |
A |
T |
13: 68,944,773 (GRCm39) |
I203N |
possibly damaging |
Het |
Asxl3 |
T |
C |
18: 22,655,902 (GRCm39) |
V1304A |
probably damaging |
Het |
Bltp3a |
A |
G |
17: 28,098,265 (GRCm39) |
I136V |
possibly damaging |
Het |
Cmah |
A |
G |
13: 24,648,238 (GRCm39) |
D491G |
possibly damaging |
Het |
Cobll1 |
A |
G |
2: 64,938,192 (GRCm39) |
S364P |
probably damaging |
Het |
Cspg4 |
T |
C |
9: 56,806,149 (GRCm39) |
L2320P |
probably damaging |
Het |
Defa5 |
T |
A |
8: 21,787,592 (GRCm39) |
F46L |
possibly damaging |
Het |
Erich6b |
T |
A |
14: 75,896,208 (GRCm39) |
N31K |
probably benign |
Het |
Fcrl6 |
C |
T |
1: 172,426,680 (GRCm39) |
V89M |
possibly damaging |
Het |
Gm5458 |
G |
T |
14: 19,649,760 (GRCm39) |
L155I |
probably damaging |
Het |
Hlx |
T |
C |
1: 184,460,010 (GRCm39) |
D376G |
probably damaging |
Het |
Hmcn1 |
A |
G |
1: 150,502,784 (GRCm39) |
S3948P |
possibly damaging |
Het |
Igf2bp2 |
G |
A |
16: 21,882,454 (GRCm39) |
R416W |
probably damaging |
Het |
Lama4 |
T |
C |
10: 38,974,484 (GRCm39) |
|
probably null |
Het |
Lingo4 |
T |
C |
3: 94,310,595 (GRCm39) |
V511A |
probably benign |
Het |
Mllt3 |
C |
A |
4: 87,710,118 (GRCm39) |
V29L |
probably benign |
Het |
Mmp16 |
T |
C |
4: 18,110,584 (GRCm39) |
|
probably benign |
Het |
Myrfl |
T |
C |
10: 116,615,490 (GRCm39) |
N802S |
possibly damaging |
Het |
Nmu |
C |
A |
5: 76,491,774 (GRCm39) |
V121F |
probably damaging |
Het |
Npepps |
T |
C |
11: 97,108,637 (GRCm39) |
T760A |
probably damaging |
Het |
Ogfod1 |
G |
T |
8: 94,789,634 (GRCm39) |
W445L |
probably damaging |
Het |
Oplah |
G |
A |
15: 76,189,948 (GRCm39) |
P222S |
probably damaging |
Het |
Or4c116 |
T |
C |
2: 88,942,023 (GRCm39) |
T278A |
probably benign |
Het |
Slc4a4 |
T |
A |
5: 89,327,633 (GRCm39) |
L699H |
probably damaging |
Het |
Sod3 |
C |
T |
5: 52,525,540 (GRCm39) |
Q80* |
probably null |
Het |
Syne2 |
C |
T |
12: 76,078,361 (GRCm39) |
Q4732* |
probably null |
Het |
Syne2 |
T |
C |
12: 76,033,785 (GRCm39) |
I3678T |
probably benign |
Het |
Tedc1 |
C |
T |
12: 113,126,808 (GRCm39) |
R357* |
probably null |
Het |
Tmem220 |
T |
C |
11: 66,922,999 (GRCm39) |
|
probably benign |
Het |
Ush1c |
A |
G |
7: 45,874,674 (GRCm39) |
|
probably benign |
Het |
Wbp2nl |
T |
C |
15: 82,198,491 (GRCm39) |
S343P |
possibly 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 |
|
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 |
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 |
2013-06-21 |