Incidental Mutation 'IGL01891:Ddo'
ID 179242
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 # IGL01891
Quality Score
Status
Chromosome 10
Chromosomal Location 40506007-40557843 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 40523643 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 211 (V211A)
Ref Sequence ENSEMBL: ENSMUSP00000019977 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019977] [ENSMUST00000213503] [ENSMUST00000213856] [ENSMUST00000214102] [ENSMUST00000216830]
AlphaFold Q922Z0
Predicted Effect possibly damaging
Transcript: ENSMUST00000019977
AA Change: V211A

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000019977
Gene: ENSMUSG00000063428
AA Change: V211A

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: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acnat2 T C 4: 49,383,395 (GRCm39) T53A probably benign Het
Aoc1 A G 6: 48,885,776 (GRCm39) probably benign Het
Ctsf G A 19: 4,906,595 (GRCm39) R174Q probably damaging Het
Ermp1 T C 19: 29,594,002 (GRCm39) I723V probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
H2-M3 T G 17: 37,583,608 (GRCm39) I322S probably benign Het
Npc1l1 T C 11: 6,164,280 (GRCm39) T1206A probably damaging Het
Pold3 A T 7: 99,737,352 (GRCm39) probably benign Het
Ripor3 T C 2: 167,825,071 (GRCm39) T813A possibly damaging Het
Suco T C 1: 161,666,371 (GRCm39) N510D probably damaging Het
Tas2r120 A G 6: 132,634,807 (GRCm39) *296W probably null Het
Tox2 G T 2: 163,164,903 (GRCm39) K514N possibly damaging Het
Ubr4 G A 4: 139,163,571 (GRCm39) probably null Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Zbtb1 T A 12: 76,432,435 (GRCm39) F140L probably damaging Het
Zc3h14 T C 12: 98,725,206 (GRCm39) probably benign 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
IGL02559:Ddo APN 10 40,523,517 (GRCm39) missense probably damaging 1.00
IGL02639:Ddo APN 10 40,523,733 (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 2014-05-07