Incidental Mutation 'R8020:Dao'
| ID |
617312 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dao
|
| Ensembl Gene |
ENSMUSG00000042096 |
| Gene Name |
D-amino acid oxidase |
| Synonyms |
DAO, Dao-1, Dao1 |
| MMRRC Submission |
067459-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R8020 (G1)
|
| Quality Score |
217.468 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
114141764-114163743 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site |
| DNA Base Change (assembly) |
AGG to AG
at 114153270 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107911
(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 benign
Transcript: ENSMUST00000112292
|
| SMART Domains |
Protein: ENSMUSP00000107911
Gene: ENSMUSG00000042096
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DAO
|
2 |
327 |
1.8e-39 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161610
|
| SMART Domains |
Protein: ENSMUSP00000125588
Gene: ENSMUSG00000042096
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DAO
|
2 |
327 |
4.5e-33 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000199175
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (32/32) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
T |
C |
19: 31,870,594 (GRCm39) |
V32A |
probably benign |
Het |
| Atp8b1 |
A |
G |
18: 64,679,084 (GRCm39) |
L799S |
probably damaging |
Het |
| Atxn7l1 |
C |
T |
12: 33,375,952 (GRCm39) |
A82V |
probably benign |
Het |
| Clpsl2 |
G |
A |
17: 28,769,702 (GRCm39) |
G55R |
probably damaging |
Het |
| Cubn |
A |
T |
2: 13,483,989 (GRCm39) |
D201E |
probably benign |
Het |
| Evl |
C |
T |
12: 108,647,783 (GRCm39) |
R295* |
probably null |
Het |
| Gje1 |
T |
C |
10: 14,593,021 (GRCm39) |
Y65C |
probably damaging |
Het |
| Gng11 |
C |
T |
6: 4,008,077 (GRCm39) |
R47C |
probably damaging |
Het |
| Hyal4 |
T |
C |
6: 24,755,995 (GRCm39) |
V71A |
probably benign |
Het |
| Ighd |
A |
T |
12: 113,378,168 (GRCm39) |
S144T |
probably benign |
Het |
| Il2rb |
T |
C |
15: 78,369,204 (GRCm39) |
Y249C |
probably benign |
Het |
| Kank1 |
GCGAACG |
GCG |
19: 25,388,569 (GRCm39) |
|
probably null |
Het |
| Ldlrad4 |
G |
T |
18: 68,368,740 (GRCm39) |
A66S |
possibly damaging |
Het |
| Lrrc27 |
C |
T |
7: 138,816,793 (GRCm39) |
S397L |
probably damaging |
Het |
| Ms4a6d |
T |
C |
19: 11,567,472 (GRCm39) |
E143G |
probably benign |
Het |
| Mtif3 |
A |
G |
5: 146,895,713 (GRCm39) |
Y125H |
probably damaging |
Het |
| Or51a8 |
A |
G |
7: 102,550,472 (GRCm39) |
I299M |
possibly damaging |
Het |
| Prkcd |
G |
A |
14: 30,331,201 (GRCm39) |
T58M |
possibly damaging |
Het |
| Prm3 |
CTCTTCTTCTTCTTC |
CTCTTCTTCTTC |
16: 10,608,565 (GRCm39) |
|
probably benign |
Het |
| Prpf6 |
T |
C |
2: 181,287,363 (GRCm39) |
F583L |
probably benign |
Het |
| Prrx1 |
T |
C |
1: 163,075,831 (GRCm39) |
N245S |
probably damaging |
Het |
| Rfc1 |
A |
T |
5: 65,429,521 (GRCm39) |
I922N |
probably damaging |
Het |
| Rplp0 |
T |
C |
5: 115,698,903 (GRCm39) |
V53A |
probably benign |
Het |
| Sis |
A |
G |
3: 72,816,298 (GRCm39) |
|
probably null |
Het |
| Slc12a1 |
T |
C |
2: 125,020,022 (GRCm39) |
F411S |
possibly damaging |
Het |
| Slc30a9 |
G |
T |
5: 67,464,376 (GRCm39) |
|
probably benign |
Het |
| Slc35d2 |
A |
G |
13: 64,254,857 (GRCm39) |
I207T |
probably benign |
Het |
| Tbc1d14 |
G |
T |
5: 36,729,187 (GRCm39) |
H60N |
probably benign |
Het |
| Tmem186 |
G |
A |
16: 8,454,024 (GRCm39) |
T79I |
probably damaging |
Het |
| Tsga8 |
A |
G |
X: 82,530,704 (GRCm39) |
L135P |
unknown |
Het |
| Zfp981 |
A |
G |
4: 146,621,825 (GRCm39) |
D250G |
possibly damaging |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCACTGTTACCCCACAATGC -3'
(R):5'- ACCGAAATCTGCCAAGTGG -3'
Sequencing Primer
(F):5'- AATGCTACCTAGTGGCTCAGC -3'
(R):5'- AAATCTGCCAAGTGGGTTGATGC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation