Incidental Mutation 'IGL02425:Moxd1'
| ID |
292866 |
| 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 # |
IGL02425
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
24099415-24178681 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24155334 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 245
(N245S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093460
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095784]
|
| AlphaFold |
Q9CXI3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095784
AA Change: N245S
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000093460
Gene: ENSMUSG00000020000
AA Change: N245S
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 8430423G03Rik |
A |
G |
5: 148,887,472 (GRCm39) |
|
probably benign |
Het |
| Adam4 |
C |
T |
12: 81,468,102 (GRCm39) |
R173H |
probably benign |
Het |
| Akap12 |
A |
G |
10: 4,306,034 (GRCm39) |
E948G |
possibly damaging |
Het |
| Akr1c12 |
T |
C |
13: 4,323,749 (GRCm39) |
Y184C |
probably damaging |
Het |
| Avil |
T |
C |
10: 126,854,316 (GRCm39) |
V761A |
probably benign |
Het |
| Bahd1 |
T |
A |
2: 118,749,645 (GRCm39) |
F480L |
probably benign |
Het |
| Bicral |
T |
C |
17: 47,119,380 (GRCm39) |
T714A |
probably benign |
Het |
| Cert1 |
T |
C |
13: 96,746,390 (GRCm39) |
I263T |
probably damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Cyp2d34 |
C |
T |
15: 82,502,480 (GRCm39) |
V219I |
probably benign |
Het |
| Dsn1 |
A |
G |
2: 156,838,667 (GRCm39) |
V316A |
probably damaging |
Het |
| Errfi1 |
T |
A |
4: 150,950,813 (GRCm39) |
F80L |
probably benign |
Het |
| Fam221b |
A |
G |
4: 43,660,642 (GRCm39) |
|
probably null |
Het |
| Fgd6 |
G |
A |
10: 93,910,064 (GRCm39) |
G790R |
probably benign |
Het |
| Fn1 |
T |
C |
1: 71,680,302 (GRCm39) |
|
probably benign |
Het |
| Gldn |
T |
A |
9: 54,246,005 (GRCm39) |
Y519N |
probably damaging |
Het |
| Il18r1 |
T |
C |
1: 40,530,381 (GRCm39) |
|
probably benign |
Het |
| Itpr2 |
A |
G |
6: 146,292,819 (GRCm39) |
V380A |
probably damaging |
Het |
| Kcnab1 |
T |
C |
3: 65,209,600 (GRCm39) |
Y154H |
possibly damaging |
Het |
| Lama1 |
T |
C |
17: 68,118,480 (GRCm39) |
V2564A |
probably benign |
Het |
| Lca5 |
T |
C |
9: 83,281,774 (GRCm39) |
T337A |
probably damaging |
Het |
| Lrp1 |
A |
G |
10: 127,407,756 (GRCm39) |
|
probably null |
Het |
| Napepld |
T |
C |
5: 21,888,440 (GRCm39) |
E3G |
probably benign |
Het |
| Nr1d2 |
T |
C |
14: 18,222,011 (GRCm38) |
T87A |
probably benign |
Het |
| Nudt4 |
T |
A |
10: 95,385,245 (GRCm39) |
T149S |
probably benign |
Het |
| Rad18 |
A |
T |
6: 112,597,859 (GRCm39) |
D219E |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,760,560 (GRCm39) |
I1508V |
probably damaging |
Het |
| Setx |
G |
A |
2: 29,038,420 (GRCm39) |
S1635N |
probably benign |
Het |
| Slc6a19 |
A |
G |
13: 73,839,919 (GRCm39) |
V121A |
probably benign |
Het |
| Snapc4 |
T |
C |
2: 26,258,212 (GRCm39) |
D736G |
probably damaging |
Het |
| Spink5 |
T |
C |
18: 44,123,811 (GRCm39) |
|
probably null |
Het |
| Strip1 |
T |
C |
3: 107,521,962 (GRCm39) |
I739V |
probably benign |
Het |
| Tmem161a |
T |
C |
8: 70,629,577 (GRCm39) |
|
probably null |
Het |
| Top1mt |
T |
C |
15: 75,547,970 (GRCm39) |
T39A |
probably benign |
Het |
| Trpm1 |
T |
C |
7: 63,890,175 (GRCm39) |
M926T |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,587,624 (GRCm39) |
K19744* |
probably null |
Het |
| Vmn2r26 |
A |
G |
6: 124,038,777 (GRCm39) |
E784G |
probably damaging |
Het |
| Wnk1 |
A |
G |
6: 119,940,415 (GRCm39) |
F774S |
probably damaging |
Het |
| Zfp317 |
T |
A |
9: 19,554,909 (GRCm39) |
Y101* |
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 |
|
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 |
2015-04-16 |
Incidental Mutation