Incidental Mutation 'IGL01784:Ddo'
ID154261
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 #IGL01784
Quality Score
Status
Chromosome10
Chromosomal Location40630011-40681847 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 40631788 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000150979 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019977] [ENSMUST00000213442] [ENSMUST00000213503] [ENSMUST00000213856] [ENSMUST00000214102] [ENSMUST00000216830]
Predicted Effect probably benign
Transcript: ENSMUST00000019977
SMART Domains Protein: ENSMUSP00000019977
Gene: ENSMUSG00000063428

DomainStartEndE-ValueType
Pfam:DAO 5 324 5.1e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213442
Predicted Effect probably benign
Transcript: ENSMUST00000213503
Predicted Effect probably benign
Transcript: ENSMUST00000213856
Predicted Effect probably benign
Transcript: ENSMUST00000214102
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214618
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik C T 11: 58,880,619 P309L possibly damaging Het
Abca4 A T 3: 122,138,505 K269N probably benign Het
Abcb5 T C 12: 118,890,664 T839A probably benign Het
Adcy7 A G 8: 88,314,123 D30G probably damaging Het
Aldh3b1 A G 19: 3,921,217 I149T probably benign Het
Ap3b1 A G 13: 94,493,739 D199G probably damaging Het
Ensa T A 3: 95,628,533 probably benign Het
Etnppl A G 3: 130,631,778 I405V possibly damaging Het
Fam129a T A 1: 151,649,365 Y174N probably damaging Het
Fam171b T A 2: 83,879,687 L568M possibly damaging Het
Fmn2 A G 1: 174,502,428 D128G unknown Het
Fra10ac1 T A 19: 38,219,677 H43L probably benign Het
Gm10436 A G 12: 88,176,315 Y178H probably benign Het
Gm7589 T C 9: 59,146,027 noncoding transcript Het
Gsx1 A G 5: 147,190,129 D254G probably benign Het
Hoxb6 A G 11: 96,300,813 E187G probably damaging Het
Kmt2c A T 5: 25,313,526 I2385N probably damaging Het
Lman1l T C 9: 57,620,564 Y36C probably damaging Het
Mc3r T A 2: 172,249,370 C171S probably benign Het
Mccc1 T G 3: 35,976,748 N390H probably damaging Het
Mphosph9 T C 5: 124,265,310 probably benign Het
Nfic T C 10: 81,406,148 D364G possibly damaging Het
Npy A G 6: 49,829,334 probably benign Het
Olfr767 C T 10: 129,079,355 V203M probably benign Het
Osbpl3 A G 6: 50,344,922 S75P probably damaging Het
Plekhg4 G T 8: 105,378,957 A685S probably damaging Het
Prss53 T C 7: 127,886,552 T539A probably benign Het
Rnf43 T A 11: 87,731,806 S537T possibly damaging Het
Rpgrip1l G A 8: 91,270,461 T597I possibly damaging Het
Rtn4 C A 11: 29,707,291 Q482K probably damaging Het
Sema3g T C 14: 31,222,967 I349T probably damaging Het
Sh3gl1 A C 17: 56,019,325 S108A possibly damaging Het
Tmc7 A T 7: 118,547,315 probably null Het
Tmem131 G A 1: 36,815,483 T131I probably damaging Het
Vac14 T C 8: 110,671,168 L505P probably benign Het
Wasf2 A G 4: 133,192,128 Q231R unknown Het
Wnt7a A G 6: 91,365,857 C348R probably damaging Het
Zkscan6 T A 11: 65,814,721 L86Q probably damaging Het
Other mutations in Ddo
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00902:Ddo APN 10 40647554 missense probably damaging 1.00
IGL01891:Ddo APN 10 40647647 missense possibly damaging 0.95
IGL02559:Ddo APN 10 40647521 missense probably damaging 1.00
IGL02639:Ddo APN 10 40647737 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 On2014-02-04