Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02639:Ddo'

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301650

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ddo

Ensembl Gene

ENSMUSG00000063428

Gene Name

D-aspartate oxidase

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02639

Quality Score

Status

Chromosome

Chromosomal Location

40630011-40681847 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 40647737 bp

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]

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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R8309:Ddo	UTSW	10	40637379	missense	possibly damaging	0.93
Z1176:Ddo	UTSW	10	40647933	missense	probably damaging	1.00

Posted On

2015-04-16