Incidental Mutation 'IGL03385:Moxd2'
| ID |
420843 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Moxd2
|
| Ensembl Gene |
ENSMUSG00000029885 |
| Gene Name |
monooxygenase, DBH-like 2 |
| Synonyms |
Dbhl1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
IGL03385
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
40855728-40864428 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 40855952 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 546
(T546A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031937
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031937]
|
| AlphaFold |
Q7TT41 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031937
AA Change: T546A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000031937
Gene: ENSMUSG00000029885
AA Change: T546A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
DoH
|
66 |
156 |
1.43e-12 |
SMART |
|
Pfam:Cu2_monooxygen
|
192 |
316 |
8.3e-39 |
PFAM |
|
Pfam:Cu2_monoox_C
|
336 |
493 |
1.8e-37 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bbs9 |
A |
G |
9: 22,555,044 (GRCm39) |
T444A |
probably benign |
Het |
| Cdh20 |
A |
G |
1: 109,993,516 (GRCm39) |
T324A |
possibly damaging |
Het |
| Col14a1 |
C |
A |
15: 55,273,600 (GRCm39) |
T723K |
unknown |
Het |
| Col14a1 |
G |
A |
15: 55,335,104 (GRCm39) |
G1513S |
unknown |
Het |
| Col1a2 |
C |
A |
6: 4,539,612 (GRCm39) |
N1293K |
unknown |
Het |
| Ctdp1 |
T |
C |
18: 80,493,133 (GRCm39) |
D454G |
probably damaging |
Het |
| Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
| G3bp2 |
A |
G |
5: 92,216,254 (GRCm39) |
V94A |
probably damaging |
Het |
| Gm973 |
A |
G |
1: 59,621,629 (GRCm39) |
S590G |
probably benign |
Het |
| Gon4l |
A |
T |
3: 88,814,850 (GRCm39) |
T1940S |
probably benign |
Het |
| Itk |
G |
A |
11: 46,222,688 (GRCm39) |
Q594* |
probably null |
Het |
| Kcnc2 |
G |
A |
10: 112,291,691 (GRCm39) |
C293Y |
probably damaging |
Het |
| Krit1 |
A |
G |
5: 3,857,452 (GRCm39) |
I86V |
possibly damaging |
Het |
| Lyst |
T |
A |
13: 13,831,565 (GRCm39) |
L1663* |
probably null |
Het |
| Myo7b |
G |
T |
18: 32,122,630 (GRCm39) |
Q717K |
probably benign |
Het |
| Or2a51 |
T |
C |
6: 43,178,914 (GRCm39) |
V112A |
probably benign |
Het |
| Or2ad1 |
A |
G |
13: 21,326,657 (GRCm39) |
V190A |
probably benign |
Het |
| Ostm1 |
A |
C |
10: 42,574,140 (GRCm39) |
N123H |
probably damaging |
Het |
| Pcdh10 |
A |
C |
3: 45,335,947 (GRCm39) |
S754R |
possibly damaging |
Het |
| Pomt2 |
A |
T |
12: 87,163,330 (GRCm39) |
L613Q |
probably damaging |
Het |
| Samd9l |
T |
A |
6: 3,376,208 (GRCm39) |
N351I |
probably damaging |
Het |
| Serpinb9 |
T |
C |
13: 33,191,979 (GRCm39) |
|
probably benign |
Het |
| Slc12a4 |
T |
A |
8: 106,677,496 (GRCm39) |
|
probably benign |
Het |
| Smgc |
T |
A |
15: 91,726,181 (GRCm39) |
H42Q |
possibly damaging |
Het |
| Tor1a |
A |
G |
2: 30,853,739 (GRCm39) |
V197A |
possibly damaging |
Het |
| Ttc4 |
A |
G |
4: 106,525,397 (GRCm39) |
S246P |
probably benign |
Het |
| Tti1 |
G |
A |
2: 157,834,945 (GRCm39) |
A1005V |
possibly damaging |
Het |
| Ugt3a1 |
A |
T |
15: 9,338,824 (GRCm39) |
I63F |
probably damaging |
Het |
|
| Other mutations in Moxd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00885:Moxd2
|
APN |
6 |
40,861,113 (GRCm39) |
splice site |
probably benign |
|
|
IGL02113:Moxd2
|
APN |
6 |
40,862,338 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02223:Moxd2
|
APN |
6 |
40,861,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03204:Moxd2
|
APN |
6 |
40,864,239 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0084:Moxd2
|
UTSW |
6 |
40,856,342 (GRCm39) |
missense |
probably null |
0.01 |
|
R1213:Moxd2
|
UTSW |
6 |
40,868,831 (GRCm39) |
unclassified |
probably benign |
|
|
R1326:Moxd2
|
UTSW |
6 |
40,857,288 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1652:Moxd2
|
UTSW |
6 |
40,864,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1940:Moxd2
|
UTSW |
6 |
40,860,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2040:Moxd2
|
UTSW |
6 |
40,861,887 (GRCm39) |
splice site |
probably null |
|
|
R2088:Moxd2
|
UTSW |
6 |
40,861,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3018:Moxd2
|
UTSW |
6 |
40,855,820 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3962:Moxd2
|
UTSW |
6 |
40,862,331 (GRCm39) |
missense |
probably benign |
|
|
R4248:Moxd2
|
UTSW |
6 |
40,855,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4438:Moxd2
|
UTSW |
6 |
40,860,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4715:Moxd2
|
UTSW |
6 |
40,864,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4732:Moxd2
|
UTSW |
6 |
40,855,793 (GRCm39) |
missense |
probably benign |
|
|
R4733:Moxd2
|
UTSW |
6 |
40,855,793 (GRCm39) |
missense |
probably benign |
|
|
R4760:Moxd2
|
UTSW |
6 |
40,868,537 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4851:Moxd2
|
UTSW |
6 |
40,855,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5087:Moxd2
|
UTSW |
6 |
40,856,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5187:Moxd2
|
UTSW |
6 |
40,856,271 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5339:Moxd2
|
UTSW |
6 |
40,862,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5452:Moxd2
|
UTSW |
6 |
40,859,048 (GRCm39) |
splice site |
probably null |
|
|
R5860:Moxd2
|
UTSW |
6 |
40,857,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5973:Moxd2
|
UTSW |
6 |
40,855,744 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6015:Moxd2
|
UTSW |
6 |
40,860,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6316:Moxd2
|
UTSW |
6 |
40,860,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7500:Moxd2
|
UTSW |
6 |
40,868,746 (GRCm39) |
missense |
probably benign |
|
|
R7561:Moxd2
|
UTSW |
6 |
40,864,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7840:Moxd2
|
UTSW |
6 |
40,862,378 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8042:Moxd2
|
UTSW |
6 |
40,862,301 (GRCm39) |
missense |
probably benign |
0.40 |
|
R9147:Moxd2
|
UTSW |
6 |
40,860,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9148:Moxd2
|
UTSW |
6 |
40,860,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9169:Moxd2
|
UTSW |
6 |
40,860,490 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9259:Moxd2
|
UTSW |
6 |
40,860,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9291:Moxd2
|
UTSW |
6 |
40,857,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9448:Moxd2
|
UTSW |
6 |
40,864,160 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9522:Moxd2
|
UTSW |
6 |
40,857,375 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9635:Moxd2
|
UTSW |
6 |
40,863,000 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
X0052:Moxd2
|
UTSW |
6 |
40,859,462 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation