Incidental Mutation 'IGL03063:Dao'
ID |
409537 |
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)
|
Stock # |
IGL03063
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
114141764-114163743 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 114159076 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 261
(C261R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125588
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086599]
[ENSMUST00000112292]
[ENSMUST00000161610]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000086599
|
SMART Domains |
Protein: ENSMUSP00000083792 Gene: ENSMUSG00000042096
Domain | Start | End | E-Value | Type |
Pfam:DAO
|
2 |
245 |
1.8e-21 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000112292
AA Change: C261R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000107911 Gene: ENSMUSG00000042096 AA Change: C261R
Domain | Start | End | E-Value | Type |
Pfam:DAO
|
2 |
327 |
1.8e-39 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000161610
AA Change: C261R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000125588 Gene: ENSMUSG00000042096 AA Change: C261R
Domain | Start | End | E-Value | Type |
Pfam:DAO
|
2 |
327 |
4.5e-33 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162214
|
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc6 |
C |
T |
7: 45,665,856 (GRCm39) |
V255I |
probably benign |
Het |
Arfgef2 |
T |
C |
2: 166,701,702 (GRCm39) |
|
probably benign |
Het |
Bpifb2 |
A |
T |
2: 153,731,044 (GRCm39) |
Q205L |
probably damaging |
Het |
Ccdc30 |
C |
T |
4: 119,206,964 (GRCm39) |
R386Q |
possibly damaging |
Het |
Cdk5rap2 |
T |
A |
4: 70,273,114 (GRCm39) |
|
probably null |
Het |
Comtd1 |
A |
G |
14: 21,897,735 (GRCm39) |
|
probably null |
Het |
Dner |
A |
G |
1: 84,563,059 (GRCm39) |
V187A |
possibly damaging |
Het |
Dsg3 |
T |
C |
18: 20,666,425 (GRCm39) |
|
probably benign |
Het |
Eif3j2 |
A |
G |
18: 43,610,444 (GRCm39) |
L123P |
possibly damaging |
Het |
Esf1 |
G |
A |
2: 139,996,706 (GRCm39) |
|
probably benign |
Het |
Exo5 |
G |
A |
4: 120,778,830 (GRCm39) |
T345I |
possibly damaging |
Het |
Fancl |
A |
T |
11: 26,337,299 (GRCm39) |
I29F |
probably damaging |
Het |
Gadl1 |
C |
T |
9: 115,795,335 (GRCm39) |
H313Y |
probably damaging |
Het |
Gm17190 |
G |
A |
13: 96,219,270 (GRCm39) |
|
probably benign |
Het |
Gtf3c1 |
G |
T |
7: 125,245,675 (GRCm39) |
T1580N |
possibly damaging |
Het |
Gtf3c6 |
T |
A |
10: 40,127,155 (GRCm39) |
I66L |
probably benign |
Het |
Hhla1 |
A |
G |
15: 65,813,639 (GRCm39) |
I231T |
probably damaging |
Het |
Hk2 |
A |
G |
6: 82,716,630 (GRCm39) |
Y273H |
probably damaging |
Het |
Hk2 |
A |
G |
6: 82,726,213 (GRCm39) |
I83T |
probably benign |
Het |
Ifit1 |
T |
C |
19: 34,625,404 (GRCm39) |
V180A |
possibly damaging |
Het |
Igkv9-129 |
A |
T |
6: 67,817,172 (GRCm39) |
D92V |
probably damaging |
Het |
Lrrc1 |
A |
G |
9: 77,406,551 (GRCm39) |
F36S |
probably damaging |
Het |
Man1b1 |
A |
G |
2: 25,224,416 (GRCm39) |
E102G |
possibly damaging |
Het |
Myh8 |
A |
G |
11: 67,179,031 (GRCm39) |
S475G |
probably benign |
Het |
Or52s1 |
T |
A |
7: 102,861,841 (GRCm39) |
V247D |
probably damaging |
Het |
Otud4 |
T |
A |
8: 80,390,419 (GRCm39) |
M343K |
probably benign |
Het |
Peg10 |
A |
T |
6: 4,756,647 (GRCm39) |
|
probably benign |
Het |
Plet1 |
T |
A |
9: 50,415,722 (GRCm39) |
N197K |
probably benign |
Het |
Ppp1r12a |
C |
T |
10: 108,097,115 (GRCm39) |
R243C |
probably damaging |
Het |
Serpinb10 |
A |
T |
1: 107,469,957 (GRCm39) |
K146N |
possibly damaging |
Het |
Sis |
A |
G |
3: 72,835,630 (GRCm39) |
F911L |
probably benign |
Het |
Spon1 |
G |
A |
7: 113,632,260 (GRCm39) |
V528M |
possibly damaging |
Het |
Tdrd9 |
T |
C |
12: 112,010,733 (GRCm39) |
V1100A |
probably benign |
Het |
Tmtc3 |
T |
C |
10: 100,283,468 (GRCm39) |
M696V |
probably benign |
Het |
Triobp |
A |
G |
15: 78,875,084 (GRCm39) |
E122G |
probably damaging |
Het |
Wt1 |
G |
A |
2: 105,000,368 (GRCm39) |
|
probably null |
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 |
|
IGL02499:Dao
|
APN |
5 |
114,152,002 (GRCm39) |
missense |
possibly damaging |
0.77 |
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 |
2016-08-02 |