Incidental Mutation 'R4454:Ddo'
ID 329094
Institutional Source Beutler Lab
Gene Symbol Ddo
Ensembl Gene ENSMUSG00000063428
Gene Name D-aspartate oxidase
Synonyms 5730402C02Rik, 5330420D20Rik
MMRRC Submission 041714-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4454 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 40506007-40557843 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 40523543 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 178 (I178F)
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: I178F

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000019977
Gene: ENSMUSG00000063428
AA Change: I178F

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
Meta Mutation Damage Score 0.1642 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency 100% (51/51)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap4e1 T A 2: 126,889,061 (GRCm39) F509I probably damaging Het
Asmt A T X: 169,106,456 (GRCm39) M19L probably benign Het
Atf6 C T 1: 170,621,608 (GRCm39) R471Q probably damaging Het
Atp4a G A 7: 30,419,650 (GRCm39) R671Q probably benign Het
Baiap3 T A 17: 25,468,510 (GRCm39) D250V probably damaging Het
C2cd4d T A 3: 94,271,054 (GRCm39) F107I probably damaging Het
Cdkn2d C G 9: 21,202,185 (GRCm39) V21L probably benign Het
Cldn6 T C 17: 23,900,060 (GRCm39) probably null Het
Cpa5 A G 6: 30,626,323 (GRCm39) N228S possibly damaging Het
Cracdl T C 1: 37,663,834 (GRCm39) E163G probably damaging Het
Crocc T C 4: 140,747,716 (GRCm39) S1478G possibly damaging Het
Csmd1 A T 8: 15,995,011 (GRCm39) C2675S probably damaging Het
Cthrc1 C A 15: 38,940,408 (GRCm39) Q4K probably benign Het
Dmxl1 A G 18: 50,026,399 (GRCm39) T1836A probably benign Het
Dnah9 T G 11: 66,038,215 (GRCm39) Q107P probably damaging Het
Dusp26 A G 8: 31,584,172 (GRCm39) N93S probably damaging Het
Egr2 GAA GA 10: 67,375,733 (GRCm39) probably null Het
Epha5 T C 5: 84,304,303 (GRCm39) I501V probably damaging Het
Eya1 C T 1: 14,253,420 (GRCm39) V519M probably damaging Het
Fam227b T A 2: 125,988,188 (GRCm39) probably benign Het
Fgd5 C T 6: 91,966,167 (GRCm39) S642F probably damaging Het
Fsip2 G T 2: 82,821,120 (GRCm39) A5618S possibly damaging Het
Gm12034 T A 11: 20,396,476 (GRCm39) noncoding transcript Het
Liph T C 16: 21,803,018 (GRCm39) D17G probably benign Het
Mbd3 A T 10: 80,229,817 (GRCm39) L164H probably damaging Het
Med4 A G 14: 73,755,502 (GRCm39) probably benign Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Nav2 A T 7: 49,198,292 (GRCm39) probably null Het
Or4k1 T C 14: 50,377,953 (GRCm39) I48V probably benign Het
Or8b1b C A 9: 38,375,938 (GRCm39) F200L probably benign Het
Pcdha11 G A 18: 37,140,426 (GRCm39) G685D probably benign Het
Pgc A G 17: 48,043,335 (GRCm39) I228V probably benign Het
Pramel25 A G 4: 143,519,394 (GRCm39) S52G probably benign Het
Rad51 C T 2: 118,962,049 (GRCm39) H199Y probably damaging Het
Robo2 A T 16: 74,149,407 (GRCm39) probably benign Het
Sap130 C T 18: 31,844,413 (GRCm39) T861I probably damaging Het
Sh3tc2 A T 18: 62,140,844 (GRCm39) D1061V probably damaging Het
Shoc1 T C 4: 59,092,383 (GRCm39) D266G possibly damaging Het
Snapc3 A G 4: 83,336,996 (GRCm39) E119G probably damaging Het
Sspo G A 6: 48,464,159 (GRCm39) G3862D probably benign Het
Tbc1d16 G A 11: 119,048,699 (GRCm39) T318M possibly damaging Het
Thrb T A 14: 18,011,187 (GRCm38) W188R probably damaging Het
Thsd1 T C 8: 22,733,594 (GRCm39) Y214H probably damaging Het
Tnfrsf13b T C 11: 61,032,264 (GRCm39) V98A probably benign Het
Topbp1 T C 9: 103,222,070 (GRCm39) Y1314H probably damaging Het
Ttn C A 2: 76,616,150 (GRCm39) V8271L possibly damaging Het
Ttn T C 2: 76,777,257 (GRCm39) M1382V probably benign Het
Utrn G T 10: 12,603,584 (GRCm39) Q599K possibly damaging Het
Zfp995 G A 17: 22,098,932 (GRCm39) T434I probably benign Het
Zfy1 G T Y: 725,518 (GRCm39) T749K possibly 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
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
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
Predicted Primers PCR Primer
(F):5'- AATCTCTACTGGCCAAGCACAG -3'
(R):5'- AGTTCCTCCCAGGGTTACATAGG -3'

Sequencing Primer
(F):5'- ACAGAGCCCGACTTTGATG -3'
(R):5'- TCCCAGGGTTACATAGGACATAC -3'
Posted On 2015-07-21