Incidental Mutation 'IGL02639:Ddo'
ID301650
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ddo
Ensembl Gene ENSMUSG00000063428
Gene NameD-aspartate oxidase
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02639
Quality Score
Status
Chromosome10
Chromosomal Location40630011-40681847 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 40647737 bp
ZygosityHeterozygous
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]
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: 37,429,804 R71* probably null Het
Abca5 A T 11: 110,288,073 I1140N possibly damaging Het
Atp6v0a1 T A 11: 101,055,518 I773N possibly damaging Het
Atp9a A G 2: 168,649,620 M675T probably damaging Het
Baz1a A G 12: 54,896,025 probably benign Het
Cd5l T C 3: 87,368,506 V261A probably damaging Het
Copb1 A G 7: 114,226,595 probably benign Het
Cul5 T C 9: 53,655,342 D130G possibly damaging Het
Cyp2j5 T A 4: 96,658,749 Q176L probably benign Het
D430042O09Rik A G 7: 125,872,792 I1518V probably damaging Het
Defa29 A G 8: 21,326,121 C77R possibly damaging Het
Dpp4 T C 2: 62,352,240 N566D probably benign Het
Emilin2 T C 17: 71,274,549 D394G probably benign Het
Fbf1 T C 11: 116,152,600 E461G probably benign Het
Fgfr2 A G 7: 130,228,802 probably benign Het
Fibcd1 G A 2: 31,817,150 T365M probably damaging Het
Fndc3a A C 14: 72,574,357 H344Q probably benign Het
Fnip1 T A 11: 54,475,640 C52* probably null Het
Fto T A 8: 91,409,528 N143K probably damaging Het
Gm2035 G T 12: 87,919,499 T120K probably benign Het
Hells G T 19: 38,938,429 L84F probably damaging Het
Hydin G A 8: 110,538,449 V2755I probably benign Het
Irgq C A 7: 24,531,462 A26E probably damaging Het
Klhl29 A T 12: 5,137,453 Y304N probably damaging Het
Muc6 T C 7: 141,649,578 probably benign Het
Myo15 T C 11: 60,478,621 F736L probably benign Het
Nynrin G T 14: 55,870,655 W1073L probably damaging Het
Olfr116 A T 17: 37,623,987 I216N probably benign Het
Olfr1490 A T 19: 13,654,596 T51S possibly damaging Het
Olfr310 A T 7: 86,269,720 I23N probably damaging Het
Olfr389 A T 11: 73,776,545 C261S probably benign Het
Olfr63 G A 17: 33,269,395 V224M possibly damaging Het
Olfr642 C A 7: 104,049,781 C191F probably damaging Het
Olfr675 T A 7: 105,024,222 I253F probably damaging Het
Pdzd2 T A 15: 12,592,243 K105M probably damaging Het
Pip5k1c C A 10: 81,317,321 probably null Het
Pola2 A G 19: 5,953,774 V191A probably benign Het
Slc22a8 A T 19: 8,593,959 Y18F probably benign Het
Slc26a5 C T 5: 21,819,767 V440M probably damaging Het
Other mutations in Ddo
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00902:Ddo APN 10 40647554 missense probably damaging 1.00
IGL01784:Ddo APN 10 40631788 splice site probably benign
IGL01891:Ddo APN 10 40647647 missense possibly damaging 0.95
IGL02559:Ddo APN 10 40647521 missense probably damaging 1.00
IGL02884:Ddo APN 10 40637364 missense probably benign 0.01
R1796:Ddo UTSW 10 40647629 missense probably benign 0.32
R2512:Ddo UTSW 10 40632939 missense possibly damaging 0.56
R3054:Ddo UTSW 10 40631742 missense probably benign 0.37
R4454:Ddo UTSW 10 40647547 missense probably damaging 0.97
R5517:Ddo UTSW 10 40647730 missense probably benign 0.00
R6336:Ddo UTSW 10 40633031 missense probably damaging 0.98
R6516:Ddo UTSW 10 40631745 missense probably damaging 1.00
R6872:Ddo UTSW 10 40637418 missense possibly damaging 0.71
R7405:Ddo UTSW 10 40647997 missense possibly damaging 0.48
R7735:Ddo UTSW 10 40631774 missense probably benign 0.00
Z1176:Ddo UTSW 10 40647933 missense probably damaging 1.00
Posted On2015-04-16