Incidental Mutation 'IGL02113:Moxd2'
| ID |
280261 |
| 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 # |
IGL02113
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
40855728-40864428 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 40862338 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 160
(I160M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031937
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031937]
|
| AlphaFold |
Q7TT41 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031937
AA Change: I160M
PolyPhen 2
Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000031937
Gene: ENSMUSG00000029885
AA Change: I160M
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192446
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
A |
T |
3: 121,904,127 (GRCm39) |
H726L |
possibly damaging |
Het |
| Aqr |
A |
T |
2: 113,950,508 (GRCm39) |
Y900* |
probably null |
Het |
| Atp11a |
G |
T |
8: 12,915,048 (GRCm39) |
R1155S |
probably benign |
Het |
| Bahd1 |
A |
G |
2: 118,747,686 (GRCm39) |
D435G |
probably benign |
Het |
| Brca2 |
A |
G |
5: 150,464,444 (GRCm39) |
T1403A |
possibly damaging |
Het |
| Cc2d2a |
T |
A |
5: 43,842,590 (GRCm39) |
|
probably null |
Het |
| Cog7 |
A |
G |
7: 121,524,703 (GRCm39) |
I697T |
probably damaging |
Het |
| Dclre1a |
A |
G |
19: 56,529,964 (GRCm39) |
V791A |
probably damaging |
Het |
| Dgki |
A |
G |
6: 36,890,560 (GRCm39) |
|
probably benign |
Het |
| Dpyd |
A |
G |
3: 118,792,868 (GRCm39) |
Y525C |
probably benign |
Het |
| Eepd1 |
T |
C |
9: 25,394,009 (GRCm39) |
L91P |
probably damaging |
Het |
| Foxf1 |
T |
A |
8: 121,811,304 (GRCm39) |
L56H |
probably damaging |
Het |
| Fry |
A |
T |
5: 150,323,070 (GRCm39) |
M1074L |
probably benign |
Het |
| Gbx1 |
T |
C |
5: 24,709,874 (GRCm39) |
T324A |
probably damaging |
Het |
| Gfpt1 |
T |
A |
6: 87,064,349 (GRCm39) |
N646K |
probably benign |
Het |
| Gm10258 |
C |
T |
3: 30,322,542 (GRCm39) |
|
probably benign |
Het |
| Gm12887 |
T |
C |
4: 121,473,692 (GRCm39) |
M53V |
probably benign |
Het |
| Hoxa11 |
C |
T |
6: 52,222,297 (GRCm39) |
G135S |
probably damaging |
Het |
| Mettl6 |
A |
T |
14: 31,204,788 (GRCm39) |
Y211* |
probably null |
Het |
| Mphosph10 |
G |
A |
7: 64,026,555 (GRCm39) |
|
probably benign |
Het |
| Mrpl19 |
T |
A |
6: 81,942,896 (GRCm39) |
M5L |
probably benign |
Het |
| Nbea |
A |
G |
3: 55,899,913 (GRCm39) |
V1412A |
probably benign |
Het |
| Nceh1 |
G |
T |
3: 27,277,040 (GRCm39) |
S121I |
probably damaging |
Het |
| Ntan1 |
A |
G |
16: 13,653,008 (GRCm39) |
T217A |
probably damaging |
Het |
| Ogfod1 |
C |
T |
8: 94,790,841 (GRCm39) |
A504V |
probably damaging |
Het |
| Or52r1c |
A |
T |
7: 102,735,057 (GRCm39) |
I111L |
possibly damaging |
Het |
| Pde3b |
G |
A |
7: 114,126,141 (GRCm39) |
V792M |
probably damaging |
Het |
| Pde9a |
A |
T |
17: 31,678,944 (GRCm39) |
M262L |
probably benign |
Het |
| Pi4ka |
A |
G |
16: 17,191,279 (GRCm39) |
V206A |
probably benign |
Het |
| Pkp1 |
A |
T |
1: 135,811,652 (GRCm39) |
N406K |
possibly damaging |
Het |
| Rcn3 |
A |
G |
7: 44,732,762 (GRCm39) |
I302T |
probably damaging |
Het |
| Rfx6 |
A |
G |
10: 51,554,108 (GRCm39) |
Q68R |
probably benign |
Het |
| Rpgrip1 |
A |
G |
14: 52,371,301 (GRCm39) |
D340G |
possibly damaging |
Het |
| Scn10a |
C |
T |
9: 119,438,956 (GRCm39) |
G1638S |
probably damaging |
Het |
| Serpinb9f |
A |
T |
13: 33,518,451 (GRCm39) |
H317L |
probably damaging |
Het |
| Setdb2 |
C |
T |
14: 59,639,764 (GRCm39) |
R709Q |
probably damaging |
Het |
| Slc40a1 |
A |
G |
1: 45,950,054 (GRCm39) |
I466T |
probably benign |
Het |
| Smyd2 |
A |
T |
1: 189,614,414 (GRCm39) |
S371R |
probably damaging |
Het |
| Snap47 |
A |
C |
11: 59,319,262 (GRCm39) |
I292S |
probably damaging |
Het |
| Tbx4 |
A |
G |
11: 85,803,090 (GRCm39) |
E322G |
possibly damaging |
Het |
| Tg |
A |
G |
15: 66,577,179 (GRCm39) |
T1501A |
probably benign |
Het |
| Tmem259 |
A |
G |
10: 79,814,543 (GRCm39) |
V300A |
probably benign |
Het |
| Usp7 |
A |
G |
16: 8,534,377 (GRCm39) |
|
probably null |
Het |
| Vmn2r94 |
G |
T |
17: 18,477,937 (GRCm39) |
T158K |
probably damaging |
Het |
| Vmn2r95 |
G |
T |
17: 18,660,169 (GRCm39) |
A194S |
possibly damaging |
Het |
| Zfp944 |
A |
T |
17: 22,558,047 (GRCm39) |
I400N |
possibly damaging |
Het |
| Zmynd12 |
T |
A |
4: 119,291,194 (GRCm39) |
I53K |
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 |
|
|
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 |
|
IGL03385:Moxd2
|
APN |
6 |
40,855,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2015-04-16 |
Incidental Mutation