Incidental Mutation 'IGL03054:Dao'
| ID |
453014 |
| Institutional Source |
Beutler Lab
|
| 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 # |
IGL03054 (G1)
|
| Quality Score |
155 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
114141764-114163743 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 114162963 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 345
(L345P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125588
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058472]
[ENSMUST00000086599]
[ENSMUST00000112292]
[ENSMUST00000161610]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058472
|
| SMART Domains |
Protein: ENSMUSP00000050730
Gene: ENSMUSG00000042078
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sugar_tr
|
66 |
347 |
2.2e-26 |
PFAM |
|
Pfam:MFS_1
|
86 |
346 |
2e-23 |
PFAM |
|
Pfam:MFS_1
|
376 |
541 |
2.5e-16 |
PFAM |
|
Pfam:Sugar_tr
|
377 |
523 |
2.9e-14 |
PFAM |
|
| 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: L345P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107911
Gene: ENSMUSG00000042096
AA Change: L345P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DAO
|
2 |
327 |
1.8e-39 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134790
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161610
AA Change: L345P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125588
Gene: ENSMUSG00000042096
AA Change: L345P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DAO
|
2 |
327 |
4.5e-33 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162214
|
| Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
98% (43/44) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933416I08Rik |
TCC |
TCCC |
X: 52,692,862 (GRCm39) |
|
noncoding transcript |
Het |
| Acsbg3 |
A |
G |
17: 57,193,528 (GRCm39) |
T625A |
possibly damaging |
Het |
| Aloxe3 |
T |
C |
11: 69,020,433 (GRCm39) |
V159A |
possibly damaging |
Het |
| Atp13a2 |
T |
A |
4: 140,734,279 (GRCm39) |
C1134S |
possibly damaging |
Het |
| Ccdc40 |
G |
A |
11: 119,154,027 (GRCm39) |
E1100K |
possibly damaging |
Het |
| Ceacam5 |
A |
T |
7: 17,493,379 (GRCm39) |
T801S |
possibly damaging |
Het |
| Cilp |
TGGG |
TGG |
9: 65,187,412 (GRCm39) |
|
probably null |
Het |
| Col4a2 |
T |
C |
8: 11,498,270 (GRCm39) |
I1693T |
probably damaging |
Het |
| Crb1 |
CG |
C |
1: 139,164,824 (GRCm39) |
|
probably null |
Het |
| Dab2 |
G |
T |
15: 6,447,707 (GRCm39) |
|
probably benign |
Het |
| Dis3l |
A |
G |
9: 64,217,722 (GRCm39) |
|
probably null |
Het |
| Egr3 |
C |
T |
14: 70,316,561 (GRCm39) |
T124M |
probably damaging |
Het |
| Gng7 |
G |
T |
10: 80,787,485 (GRCm39) |
F59L |
probably damaging |
Het |
| Itgb4 |
C |
A |
11: 115,891,166 (GRCm39) |
Y1190* |
probably null |
Het |
| Lacc1 |
T |
C |
14: 77,268,355 (GRCm39) |
M319V |
possibly damaging |
Het |
| Mapkbp1 |
A |
G |
2: 119,845,881 (GRCm39) |
T417A |
probably damaging |
Het |
| Mier3 |
C |
T |
13: 111,822,848 (GRCm39) |
|
probably benign |
Het |
| Mlxipl |
A |
G |
5: 135,162,110 (GRCm39) |
D569G |
possibly damaging |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Mrpl15 |
A |
G |
1: 4,855,794 (GRCm39) |
|
probably null |
Het |
| Neb |
T |
C |
2: 52,161,334 (GRCm39) |
N2153D |
probably damaging |
Het |
| Nlrp9c |
A |
G |
7: 26,081,701 (GRCm39) |
|
probably null |
Het |
| Npepps |
C |
T |
11: 97,132,614 (GRCm39) |
|
probably benign |
Het |
| Or13a17 |
T |
G |
7: 140,271,623 (GRCm39) |
S268R |
probably benign |
Het |
| Or1j10 |
A |
T |
2: 36,266,944 (GRCm39) |
H52L |
possibly damaging |
Het |
| Or52z12 |
C |
A |
7: 103,234,047 (GRCm39) |
H273N |
probably benign |
Het |
| Psmc4 |
T |
C |
7: 27,746,605 (GRCm39) |
Y160C |
probably damaging |
Het |
| Rims1 |
T |
C |
1: 22,360,333 (GRCm39) |
Y131C |
probably damaging |
Het |
| Riok1 |
G |
A |
13: 38,231,291 (GRCm39) |
G183D |
probably damaging |
Het |
| Samd9l |
T |
A |
6: 3,376,023 (GRCm39) |
I413F |
probably damaging |
Het |
| Tnfrsf22 |
A |
G |
7: 143,194,532 (GRCm39) |
Y132H |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,726,104 (GRCm39) |
|
probably benign |
Het |
| Tulp1 |
A |
G |
17: 28,578,287 (GRCm39) |
|
probably benign |
Het |
| Usp15 |
C |
A |
10: 122,961,836 (GRCm39) |
|
probably benign |
Het |
| Wdr7 |
G |
T |
18: 63,958,192 (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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGGCTCTATAGAAGGCCCC -3'
(R):5'- ATGCCTTTGCCAGAGGAAGC -3'
Sequencing Primer
(F):5'- TCTATAGAAGGCCCCTGGTC -3'
(R):5'- TTTGCCAGAGGAAGCCAGGG -3'
|
| Posted On |
2017-01-24 |
Incidental Mutation