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) question?
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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