Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02499:Dao'

295940

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dao

Ensembl Gene

ENSMUSG00000042096

Gene Name

D-amino acid oxidase

Synonyms

DAO, Dao-1, Dao1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

IGL02499

Quality Score

Status

Chromosome

Chromosomal Location

114141764-114163743 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 114152002 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 107 (K107E)

Ref Sequence

ENSEMBL: ENSMUSP00000083792 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086599] [ENSMUST00000112292] [ENSMUST00000161610]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000086599
AA Change: K107E

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000083792
Gene: ENSMUSG00000042096
AA Change: K107E

Domain	Start	End	E-Value	Type
Pfam:DAO	2	245	1.8e-21	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112292
AA Change: K107E

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000107911
Gene: ENSMUSG00000042096
AA Change: K107E

Domain	Start	End	E-Value	Type
Pfam:DAO	2	327	1.8e-39	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000161610
AA Change: K107E

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000125588
Gene: ENSMUSG00000042096
AA Change: K107E

Domain	Start	End	E-Value	Type
Pfam:DAO	2	327	4.5e-33	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162214

Predicted Effect

unknown
Transcript: ENSMUST00000199175
AA Change: K89E

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the peroxisomal enzyme D-amino acid oxidase. The enzyme is a flavoprotein which uses flavin adenine dinucleotide (FAD) as its prosthetic group. Its substrates include a wide variety of D-amino acids, but it is inactive on the naturally occurring L-amino acids. Its biological function is not known; it may act as a detoxifying agent which removes D-amino acids that accumulate during aging. In mice, it degrades D-serine, a co-agonist of the NMDA receptor. This gene may play a role in the pathophysiology of schizophrenia. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display increased levels of D-serine and a decrease in the severity of behavioral effects induced by NMDA receptor antagonists. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	A	G	5: 99,377,236 (GRCm39)	S404P	probably damaging	Het
A930011G23Rik	G	A	5: 99,377,241 (GRCm39)	P402L	probably damaging	Het
Abcb1a	A	G	5: 8,776,807 (GRCm39)	N835S	possibly damaging	Het
Abr	A	T	11: 76,399,916 (GRCm39)	F27Y	probably benign	Het
Adam5	C	T	8: 25,271,581 (GRCm39)		probably null	Het
Alas1	A	T	9: 106,118,520 (GRCm39)	Y201N	probably damaging	Het
Aldoart1	T	A	4: 72,770,476 (GRCm39)	R111W	possibly damaging	Het
Arhgef25	A	G	10: 127,021,460 (GRCm39)	Y253H	probably damaging	Het
Arhgef28	G	T	13: 98,090,291 (GRCm39)	A1076E	possibly damaging	Het
Baz2b	C	T	2: 59,731,840 (GRCm39)	R2066K	possibly damaging	Het
Bdh1	G	T	16: 31,256,866 (GRCm39)	R5L	possibly damaging	Het
Brap	A	G	5: 121,817,934 (GRCm39)	Y358C	probably damaging	Het
Cad	T	C	5: 31,226,948 (GRCm39)	V1235A	probably damaging	Het
Cadps	G	T	14: 12,822,725 (GRCm38)	S5*	probably null	Het
Cd200r2	A	G	16: 44,734,948 (GRCm39)	T220A	possibly damaging	Het
Cd209e	T	A	8: 3,904,238 (GRCm39)	M6L	probably benign	Het
Cdh23	G	T	10: 60,220,958 (GRCm39)	T1265K	probably damaging	Het
Clec16a	T	C	16: 10,512,540 (GRCm39)	S828P	probably benign	Het
Dnah6	T	A	6: 72,998,210 (GRCm39)	M4071L	probably benign	Het
Dvl1	T	C	4: 155,939,237 (GRCm39)	I250T	probably benign	Het
Dzip3	A	C	16: 48,754,213 (GRCm39)	L945V	probably damaging	Het
Gm128	A	G	3: 95,147,992 (GRCm39)	S101P	possibly damaging	Het
Gphn	T	C	12: 78,539,074 (GRCm39)	L240P	probably benign	Het
Hecw2	A	G	1: 53,965,647 (GRCm39)	I393T	probably benign	Het
Iigp1c	T	C	18: 60,378,710 (GRCm39)	S82P	probably damaging	Het
Kat14	A	G	2: 144,235,751 (GRCm39)	E161G	probably benign	Het
Kcne3	A	C	7: 99,833,610 (GRCm39)	I76L	probably benign	Het
Kcnk18	A	T	19: 59,223,614 (GRCm39)	Q253L	probably benign	Het
Kmt2a	T	C	9: 44,741,806 (GRCm39)		probably benign	Het
Lrrc73	A	G	17: 46,567,915 (GRCm39)		probably benign	Het
Mki67	A	G	7: 135,296,056 (GRCm39)	S2993P	possibly damaging	Het
Mto1	T	A	9: 78,368,794 (GRCm39)		probably benign	Het
Myo9a	T	A	9: 59,722,669 (GRCm39)		probably benign	Het
Myt1	G	A	2: 181,467,342 (GRCm39)		probably benign	Het
Ncoa7	T	C	10: 30,566,885 (GRCm39)	T587A	probably benign	Het
Nemf	T	A	12: 69,368,903 (GRCm39)	I771F	probably damaging	Het
Or10k2	T	A	8: 84,267,812 (GRCm39)	V13D	possibly damaging	Het
Or5k16	A	G	16: 58,736,614 (GRCm39)	L130P	probably damaging	Het
Or8c10	A	T	9: 38,278,977 (GRCm39)	Y45F	probably benign	Het
Papln	T	C	12: 83,827,445 (GRCm39)	V761A	probably benign	Het
Pask	A	T	1: 93,248,817 (GRCm39)	L861*	probably null	Het
Pcdh18	T	A	3: 49,707,896 (GRCm39)	R859S	probably benign	Het
Ppip5k1	C	T	2: 121,162,034 (GRCm39)		probably null	Het
Ptprs	A	G	17: 56,744,884 (GRCm39)	V284A	probably damaging	Het
Rasgrp4	A	T	7: 28,850,928 (GRCm39)		probably benign	Het
Rp1	T	C	1: 4,419,271 (GRCm39)	I614V	probably benign	Het
Sec23ip	T	C	7: 128,378,640 (GRCm39)	I818T	probably damaging	Het
Skint11	G	A	4: 114,051,801 (GRCm39)	A50T	probably benign	Het
Sqor	T	A	2: 122,650,007 (GRCm39)	M417K	possibly damaging	Het
Tbc1d24	T	C	17: 24,426,593 (GRCm39)		probably null	Het
Tbc1d8b	A	T	X: 138,613,173 (GRCm39)	D333V	probably damaging	Het
Tbx2	T	C	11: 85,731,739 (GRCm39)	S679P	possibly damaging	Het
Thbs2	A	G	17: 14,904,328 (GRCm39)		probably benign	Het
Ttn	T	C	2: 76,689,795 (GRCm39)		probably benign	Het
Vmn2r28	A	T	7: 5,493,568 (GRCm39)	I126N	probably damaging	Het
Zbtb10	G	T	3: 9,316,800 (GRCm39)	G204V	probably damaging	Het
Zfp426	A	C	9: 20,384,414 (GRCm39)		probably benign	Het

Other mutations in Dao

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01420:Dao	APN	5	114,161,881 (GRCm39)	splice site	probably benign
IGL03063:Dao	APN	5	114,159,076 (GRCm39)	missense	probably damaging	1.00
IGL03054:Dao	UTSW	5	114,162,963 (GRCm39)	missense	probably damaging	1.00
R0127:Dao	UTSW	5	114,158,024 (GRCm39)	missense	probably damaging	1.00
R4461:Dao	UTSW	5	114,157,987 (GRCm39)	missense	probably damaging	1.00
R4747:Dao	UTSW	5	114,150,693 (GRCm39)	missense	probably benign	0.12
R5176:Dao	UTSW	5	114,158,070 (GRCm39)	critical splice donor site	probably null
R5226:Dao	UTSW	5	114,159,094 (GRCm39)	missense	probably benign	0.00
R7388:Dao	UTSW	5	114,153,273 (GRCm39)	makesense	probably null
R7968:Dao	UTSW	5	114,153,270 (GRCm39)	critical splice donor site	probably benign
R7969:Dao	UTSW	5	114,153,270 (GRCm39)	critical splice donor site	probably benign
R7970:Dao	UTSW	5	114,153,270 (GRCm39)	critical splice donor site	probably benign
R7971:Dao	UTSW	5	114,153,270 (GRCm39)	critical splice donor site	probably benign
R7972:Dao	UTSW	5	114,153,270 (GRCm39)	critical splice donor site	probably benign
R7973:Dao	UTSW	5	114,153,270 (GRCm39)	critical splice donor site	probably benign
R8018:Dao	UTSW	5	114,153,270 (GRCm39)	critical splice donor site	probably benign
R8020:Dao	UTSW	5	114,153,270 (GRCm39)	critical splice donor site	probably benign
R8045:Dao	UTSW	5	114,153,270 (GRCm39)	critical splice donor site	probably benign
R8123:Dao	UTSW	5	114,153,270 (GRCm39)	critical splice donor site	probably benign
R8124:Dao	UTSW	5	114,153,270 (GRCm39)	critical splice donor site	probably benign
R9376:Dao	UTSW	5	114,147,901 (GRCm39)	start codon destroyed	probably null	1.00
R9614:Dao	UTSW	5	114,152,060 (GRCm39)	missense	probably benign	0.04

Posted On

2015-04-16