Incidental Mutation 'IGL02639:Ddo'
ID |
301650 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ddo
|
Ensembl Gene |
ENSMUSG00000063428 |
Gene Name |
D-aspartate oxidase |
Synonyms |
5730402C02Rik, 5330420D20Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02639
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
40506007-40557843 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 40523733 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 241
(D241G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000019977
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019977]
[ENSMUST00000213503]
[ENSMUST00000213856]
[ENSMUST00000214102]
[ENSMUST00000216830]
|
AlphaFold |
Q922Z0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000019977
AA Change: D241G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000019977 Gene: ENSMUSG00000063428 AA Change: D241G
Domain | Start | End | E-Value | Type |
Pfam:DAO
|
5 |
324 |
5.1e-36 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000213503
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000213856
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000214102
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000216830
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a peroxisomal flavoprotein that catalyzes the oxidative deamination of D-aspartate and N-methyl D-aspartate. Flavin adenine dinucleotide or 6-hydroxyflavin adenine dinucleotide can serve as the cofactor in this reaction. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygous null mice are viable and fertile, but can display impaired male copulation, decreased autogrooming, increased body weight, and increased D-aspartate levels, depending on the mutant allele. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930447A16Rik |
C |
T |
15: 37,430,048 (GRCm39) |
R71* |
probably null |
Het |
Abca5 |
A |
T |
11: 110,178,899 (GRCm39) |
I1140N |
possibly damaging |
Het |
Atp6v0a1 |
T |
A |
11: 100,946,344 (GRCm39) |
I773N |
possibly damaging |
Het |
Atp9a |
A |
G |
2: 168,491,540 (GRCm39) |
M675T |
probably damaging |
Het |
Baz1a |
A |
G |
12: 54,942,810 (GRCm39) |
|
probably benign |
Het |
Cd5l |
T |
C |
3: 87,275,813 (GRCm39) |
V261A |
probably damaging |
Het |
Copb1 |
A |
G |
7: 113,825,830 (GRCm39) |
|
probably benign |
Het |
Cul5 |
T |
C |
9: 53,566,642 (GRCm39) |
D130G |
possibly damaging |
Het |
Cyp2j5 |
T |
A |
4: 96,546,986 (GRCm39) |
Q176L |
probably benign |
Het |
Defa29 |
A |
G |
8: 21,816,137 (GRCm39) |
C77R |
possibly damaging |
Het |
Dpp4 |
T |
C |
2: 62,182,584 (GRCm39) |
N566D |
probably benign |
Het |
Eif1ad14 |
G |
T |
12: 87,886,269 (GRCm39) |
T120K |
probably benign |
Het |
Emilin2 |
T |
C |
17: 71,581,544 (GRCm39) |
D394G |
probably benign |
Het |
Fbf1 |
T |
C |
11: 116,043,426 (GRCm39) |
E461G |
probably benign |
Het |
Fgfr2 |
A |
G |
7: 129,830,532 (GRCm39) |
|
probably benign |
Het |
Fibcd1 |
G |
A |
2: 31,707,162 (GRCm39) |
T365M |
probably damaging |
Het |
Fndc3a |
A |
C |
14: 72,811,797 (GRCm39) |
H344Q |
probably benign |
Het |
Fnip1 |
T |
A |
11: 54,366,466 (GRCm39) |
C52* |
probably null |
Het |
Fto |
T |
A |
8: 92,136,156 (GRCm39) |
N143K |
probably damaging |
Het |
Hells |
G |
T |
19: 38,926,873 (GRCm39) |
L84F |
probably damaging |
Het |
Hydin |
G |
A |
8: 111,265,081 (GRCm39) |
V2755I |
probably benign |
Het |
Irgq |
C |
A |
7: 24,230,887 (GRCm39) |
A26E |
probably damaging |
Het |
Katnip |
A |
G |
7: 125,471,964 (GRCm39) |
I1518V |
probably damaging |
Het |
Klhl29 |
A |
T |
12: 5,187,453 (GRCm39) |
Y304N |
probably damaging |
Het |
Muc6 |
T |
C |
7: 141,235,843 (GRCm39) |
|
probably benign |
Het |
Myo15a |
T |
C |
11: 60,369,447 (GRCm39) |
F736L |
probably benign |
Het |
Nynrin |
G |
T |
14: 56,108,112 (GRCm39) |
W1073L |
probably damaging |
Het |
Or10h28 |
G |
A |
17: 33,488,369 (GRCm39) |
V224M |
possibly damaging |
Het |
Or10w1 |
A |
T |
19: 13,631,960 (GRCm39) |
T51S |
possibly damaging |
Het |
Or14c46 |
A |
T |
7: 85,918,928 (GRCm39) |
I23N |
probably damaging |
Het |
Or14j10 |
A |
T |
17: 37,934,878 (GRCm39) |
I216N |
probably benign |
Het |
Or1e29 |
A |
T |
11: 73,667,371 (GRCm39) |
C261S |
probably benign |
Het |
Or51a10 |
C |
A |
7: 103,698,988 (GRCm39) |
C191F |
probably damaging |
Het |
Or52e8b |
T |
A |
7: 104,673,429 (GRCm39) |
I253F |
probably damaging |
Het |
Pdzd2 |
T |
A |
15: 12,592,329 (GRCm39) |
K105M |
probably damaging |
Het |
Pip5k1c |
C |
A |
10: 81,153,155 (GRCm39) |
|
probably null |
Het |
Pola2 |
A |
G |
19: 6,003,802 (GRCm39) |
V191A |
probably benign |
Het |
Slc22a8 |
A |
T |
19: 8,571,323 (GRCm39) |
Y18F |
probably benign |
Het |
Slc26a5 |
C |
T |
5: 22,024,765 (GRCm39) |
V440M |
probably damaging |
Het |
|
Other mutations in Ddo |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00902:Ddo
|
APN |
10 |
40,523,550 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01784:Ddo
|
APN |
10 |
40,507,784 (GRCm39) |
splice site |
probably benign |
|
IGL01891:Ddo
|
APN |
10 |
40,523,643 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02559:Ddo
|
APN |
10 |
40,523,517 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02884:Ddo
|
APN |
10 |
40,513,360 (GRCm39) |
missense |
probably benign |
0.01 |
R1796:Ddo
|
UTSW |
10 |
40,523,625 (GRCm39) |
missense |
probably benign |
0.32 |
R2512:Ddo
|
UTSW |
10 |
40,508,935 (GRCm39) |
missense |
possibly damaging |
0.56 |
R3054:Ddo
|
UTSW |
10 |
40,507,738 (GRCm39) |
missense |
probably benign |
0.37 |
R4454:Ddo
|
UTSW |
10 |
40,523,543 (GRCm39) |
missense |
probably damaging |
0.97 |
R5517:Ddo
|
UTSW |
10 |
40,523,726 (GRCm39) |
missense |
probably benign |
0.00 |
R6336:Ddo
|
UTSW |
10 |
40,509,027 (GRCm39) |
missense |
probably damaging |
0.98 |
R6516:Ddo
|
UTSW |
10 |
40,507,741 (GRCm39) |
missense |
probably damaging |
1.00 |
R6872:Ddo
|
UTSW |
10 |
40,513,414 (GRCm39) |
missense |
possibly damaging |
0.71 |
R7405:Ddo
|
UTSW |
10 |
40,523,993 (GRCm39) |
missense |
possibly damaging |
0.48 |
R7735:Ddo
|
UTSW |
10 |
40,507,770 (GRCm39) |
missense |
probably benign |
0.00 |
R8309:Ddo
|
UTSW |
10 |
40,513,375 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9567:Ddo
|
UTSW |
10 |
40,523,913 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Ddo
|
UTSW |
10 |
40,523,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |