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 |
Incidental Mutation