Incidental Mutation 'IGL00227:Moxd1'
ID |
2257 |
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 # |
IGL00227
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
24099415-24178681 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 24158491 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Tyrosine
at position 382
(H382Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000093460
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095784]
|
AlphaFold |
Q9CXI3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000095784
AA Change: H382Y
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000093460 Gene: ENSMUSG00000020000 AA Change: H382Y
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg8 |
C |
A |
17: 84,995,957 (GRCm39) |
|
probably null |
Het |
Alms1 |
A |
G |
6: 85,654,946 (GRCm39) |
E2695G |
probably damaging |
Het |
B3galnt2 |
A |
G |
13: 14,162,016 (GRCm39) |
N246D |
probably benign |
Het |
Ces1h |
A |
T |
8: 94,079,098 (GRCm39) |
M495K |
unknown |
Het |
Chga |
A |
G |
12: 102,529,058 (GRCm39) |
E345G |
probably damaging |
Het |
Chrnb3 |
T |
C |
8: 27,875,129 (GRCm39) |
F43L |
probably benign |
Het |
Ctu1 |
C |
A |
7: 43,324,928 (GRCm39) |
F122L |
possibly damaging |
Het |
Cwf19l2 |
C |
A |
9: 3,409,990 (GRCm39) |
Q40K |
probably benign |
Het |
Dlg2 |
T |
C |
7: 91,614,853 (GRCm39) |
I264T |
probably damaging |
Het |
Dnah1 |
C |
T |
14: 31,008,853 (GRCm39) |
V1974M |
probably damaging |
Het |
Foxf2 |
C |
A |
13: 31,810,172 (GRCm39) |
P37Q |
unknown |
Het |
Gtf2e2 |
T |
C |
8: 34,266,473 (GRCm39) |
|
probably benign |
Het |
Hectd3 |
C |
A |
4: 116,857,785 (GRCm39) |
|
probably benign |
Het |
Hectd3 |
T |
C |
4: 116,857,786 (GRCm39) |
|
probably benign |
Het |
Hectd3 |
T |
C |
4: 116,857,784 (GRCm39) |
|
probably benign |
Het |
Ift122 |
A |
T |
6: 115,894,018 (GRCm39) |
H901L |
probably benign |
Het |
Itih1 |
C |
T |
14: 30,664,846 (GRCm39) |
|
probably null |
Het |
Krt84 |
C |
A |
15: 101,436,208 (GRCm39) |
M460I |
probably benign |
Het |
Npy6r |
A |
T |
18: 44,409,511 (GRCm39) |
T311S |
probably damaging |
Het |
Or1p1 |
C |
T |
11: 74,179,952 (GRCm39) |
T160I |
probably damaging |
Het |
Or52n3 |
C |
T |
7: 104,530,724 (GRCm39) |
T270I |
probably benign |
Het |
Pbk |
T |
C |
14: 66,051,340 (GRCm39) |
I126T |
probably damaging |
Het |
Pde1b |
C |
T |
15: 103,435,107 (GRCm39) |
S400F |
probably damaging |
Het |
Plxna2 |
T |
A |
1: 194,326,965 (GRCm39) |
C300S |
probably damaging |
Het |
Pnpla6 |
C |
T |
8: 3,573,808 (GRCm39) |
R419W |
probably damaging |
Het |
Ppp4r3a |
A |
G |
12: 101,016,053 (GRCm39) |
L33P |
probably damaging |
Het |
Ralb |
T |
A |
1: 119,403,770 (GRCm39) |
D119V |
probably benign |
Het |
Relb |
A |
C |
7: 19,356,849 (GRCm39) |
|
probably null |
Het |
Rims1 |
T |
A |
1: 22,507,323 (GRCm39) |
D609V |
probably damaging |
Het |
Scnn1a |
A |
G |
6: 125,315,342 (GRCm39) |
T377A |
probably benign |
Het |
Slc13a2 |
T |
C |
11: 78,291,374 (GRCm39) |
T367A |
probably damaging |
Het |
Sort1 |
T |
C |
3: 108,263,623 (GRCm39) |
L807P |
probably damaging |
Het |
Sptbn1 |
C |
A |
11: 30,060,818 (GRCm39) |
E2051* |
probably null |
Het |
St6galnac1 |
T |
C |
11: 116,658,532 (GRCm39) |
I311V |
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 |
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 |
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 |
2011-12-09 |