Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02884:Ddo'

362934

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 #

IGL02884

Quality Score

Status

Chromosome

Chromosomal Location

40506007-40557843 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 40513360 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 101 (V101I)

Ref Sequence

ENSEMBL: ENSMUSP00000019977 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019977] [ENSMUST00000213442] [ENSMUST00000213503] [ENSMUST00000213856] [ENSMUST00000214102] [ENSMUST00000216830]

AlphaFold

Q922Z0

Predicted Effect

probably benign
Transcript: ENSMUST00000019977
AA Change: V101I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000019977
Gene: ENSMUSG00000063428
AA Change: V101I

Domain	Start	End	E-Value	Type
Pfam:DAO	5	324	5.1e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213442
AA Change: V101I

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

Predicted Effect

probably benign
Transcript: ENSMUST00000213503
AA Change: V101I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

silent
Transcript: ENSMUST00000213856

Predicted Effect

probably benign
Transcript: ENSMUST00000214102
AA Change: V110I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214618

Predicted Effect

probably benign
Transcript: ENSMUST00000216830
AA Change: V101I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930438A08Rik	A	G	11: 58,178,302 (GRCm39)	I121V	probably benign	Het
Adprh	C	T	16: 38,266,396 (GRCm39)	V249I	probably benign	Het
Akap11	A	T	14: 78,736,402 (GRCm39)	M1797K	probably benign	Het
Akap6	T	A	12: 52,933,405 (GRCm39)	I299N	probably benign	Het
Akr1c12	A	T	13: 4,322,211 (GRCm39)	M277K	possibly damaging	Het
Ankrd17	A	T	5: 90,412,616 (GRCm39)	M1236K	probably damaging	Het
Arhgef11	A	G	3: 87,635,313 (GRCm39)	D874G	probably damaging	Het
Atg4b	T	C	1: 93,715,437 (GRCm39)		probably benign	Het
Bcl9	G	A	3: 97,117,368 (GRCm39)	P442L	probably damaging	Het
Ccdc107	A	T	4: 43,495,228 (GRCm39)	K98*	probably null	Het
Cenpl	A	G	1: 160,913,619 (GRCm39)	Q343R	probably benign	Het
Cep104	T	C	4: 154,074,319 (GRCm39)	C524R	probably damaging	Het
Clec3b	C	T	9: 122,985,827 (GRCm39)	T75I	probably benign	Het
Col13a1	A	T	10: 61,741,064 (GRCm39)		probably benign	Het
Crot	C	T	5: 9,028,197 (GRCm39)		probably null	Het
Disp2	T	C	2: 118,618,032 (GRCm39)		probably benign	Het
Dnmt3b	A	C	2: 153,516,297 (GRCm39)	Y474S	probably damaging	Het
Dpp6	T	A	5: 27,839,554 (GRCm39)	N298K	possibly damaging	Het
Fbf1	C	T	11: 116,037,339 (GRCm39)	E940K	probably damaging	Het
Fgd6	A	G	10: 93,881,501 (GRCm39)		probably benign	Het
H2-M10.2	T	C	17: 36,595,568 (GRCm39)	R241G	probably damaging	Het
Haghl	A	T	17: 26,002,072 (GRCm39)	F207Y	possibly damaging	Het
Helt	G	A	8: 46,745,620 (GRCm39)	R88C	probably damaging	Het
Igf2bp2	T	C	16: 21,981,635 (GRCm39)	K27E	probably benign	Het
Il1b	T	C	2: 129,207,022 (GRCm39)	H246R	probably benign	Het
Itprid1	T	C	6: 55,851,339 (GRCm39)		probably null	Het
Kcnu1	C	T	8: 26,411,556 (GRCm39)	S167L	probably damaging	Het
Kif16b	A	T	2: 142,544,534 (GRCm39)		probably benign	Het
Myh7	A	T	14: 55,230,276 (GRCm39)	S19T	probably benign	Het
Ncaph2	T	C	15: 89,248,447 (GRCm39)		probably null	Het
Nlrp4c	T	C	7: 6,101,951 (GRCm39)	L879P	probably damaging	Het
Nqo2	T	A	13: 34,156,344 (GRCm39)	N19K	probably damaging	Het
Or2r2	C	T	6: 42,463,540 (GRCm39)	V196M	probably damaging	Het
Osbpl1a	C	A	18: 12,952,635 (GRCm39)	G93*	probably null	Het
Pdxdc1	A	G	16: 13,661,659 (GRCm39)	F459L	possibly damaging	Het
Phc2	A	T	4: 128,601,809 (GRCm39)	H88L	probably damaging	Het
Pkd1l2	G	A	8: 117,792,484 (GRCm39)	T436I	probably benign	Het
Ptchd4	A	T	17: 42,813,340 (GRCm39)	T414S	possibly damaging	Het
Rab7b	A	G	1: 131,626,280 (GRCm39)	R103G	probably damaging	Het
Retnla	A	G	16: 48,662,943 (GRCm39)	Y3C	probably benign	Het
Samd7	G	A	3: 30,810,322 (GRCm39)	R113H	probably damaging	Het
Shisa9	G	A	16: 11,814,907 (GRCm39)		probably benign	Het
Soat1	A	T	1: 156,268,926 (GRCm39)	I208N	possibly damaging	Het
Stab1	C	A	14: 30,872,100 (GRCm39)		probably null	Het
Tti2	C	T	8: 31,641,505 (GRCm39)	L210F	possibly damaging	Het
Ube2v2	A	G	16: 15,374,349 (GRCm39)	V77A	probably benign	Het
Ubr5	T	C	15: 37,998,620 (GRCm39)	E1617G	probably damaging	Het
Vmn2r16	T	A	5: 109,508,757 (GRCm39)	I495K	possibly damaging	Het
Vwce	G	T	19: 10,623,943 (GRCm39)	R278L	possibly damaging	Het
Wdr26	C	T	1: 181,010,349 (GRCm39)	A551T	probably damaging	Het
Wee1	A	G	7: 109,725,269 (GRCm39)	I304V	probably benign	Het
Xrcc5	C	T	1: 72,385,396 (GRCm39)	H496Y	possibly damaging	Het
Zfp142	G	T	1: 74,611,142 (GRCm39)	S884R	probably damaging	Het

Other mutations in Ddo

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

2015-12-18