Incidental Mutation 'R3054:Ddo'
| ID |
265083 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ddo
|
| Ensembl Gene |
ENSMUSG00000063428 |
| Gene Name |
D-aspartate oxidase |
| Synonyms |
5730402C02Rik, 5330420D20Rik |
| MMRRC Submission |
040563-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3054 (G1)
|
| Quality Score |
198 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
40506007-40557843 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 40507738 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 45
(N45S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150785
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019977]
[ENSMUST00000213442]
[ENSMUST00000213503]
[ENSMUST00000213856]
[ENSMUST00000214102]
[ENSMUST00000216830]
|
| AlphaFold |
Q922Z0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019977
AA Change: N45S
PolyPhen 2
Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000019977
Gene: ENSMUSG00000063428
AA Change: N45S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DAO
|
5 |
324 |
5.1e-36 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213442
AA Change: N45S
PolyPhen 2
Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213503
AA Change: N45S
PolyPhen 2
Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213856
AA Change: N45S
PolyPhen 2
Score 0.370 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214102
AA Change: N45S
PolyPhen 2
Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214618
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216830
AA Change: N45S
PolyPhen 2
Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a peroxisomal flavoprotein that catalyzes the oxidative deamination of D-aspartate and N-methyl D-aspartate. Flavin adenine dinucleotide or 6-hydroxyflavin adenine dinucleotide can serve as the cofactor in this reaction. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are viable and fertile, but can display impaired male copulation, decreased autogrooming, increased body weight, and increased D-aspartate levels, depending on the mutant allele. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730596B20Rik |
A |
T |
6: 52,156,108 (GRCm39) |
|
probably benign |
Het |
| Aldh1l2 |
T |
C |
10: 83,338,336 (GRCm39) |
K528E |
probably benign |
Het |
| Als2 |
A |
G |
1: 59,254,653 (GRCm39) |
C235R |
probably damaging |
Het |
| Armc6 |
C |
A |
8: 70,677,799 (GRCm39) |
V177L |
probably benign |
Het |
| Asb7 |
A |
T |
7: 66,328,959 (GRCm39) |
V27D |
probably damaging |
Het |
| Bard1 |
A |
G |
1: 71,127,390 (GRCm39) |
V73A |
possibly damaging |
Het |
| Ccdc150 |
A |
G |
1: 54,328,001 (GRCm39) |
N361S |
possibly damaging |
Het |
| Cntn5 |
A |
G |
9: 10,419,076 (GRCm39) |
L7P |
probably benign |
Het |
| Cst3 |
A |
G |
2: 148,713,951 (GRCm39) |
S118P |
probably damaging |
Het |
| Cyp2a22 |
T |
C |
7: 26,638,254 (GRCm39) |
D84G |
probably damaging |
Het |
| Drd4 |
T |
C |
7: 140,874,392 (GRCm39) |
V319A |
probably damaging |
Het |
| Fat3 |
C |
T |
9: 15,871,792 (GRCm39) |
R3533H |
probably benign |
Het |
| Fras1 |
A |
T |
5: 96,912,802 (GRCm39) |
I3369F |
probably damaging |
Het |
| Gm5591 |
T |
C |
7: 38,220,058 (GRCm39) |
S272G |
probably benign |
Het |
| Gm8444 |
A |
T |
15: 81,727,845 (GRCm39) |
|
probably benign |
Het |
| Gm9776 |
A |
G |
13: 94,495,158 (GRCm39) |
|
probably benign |
Het |
| Kdm1b |
C |
T |
13: 47,216,553 (GRCm39) |
R308W |
probably damaging |
Het |
| Larp1b |
A |
T |
3: 40,918,535 (GRCm39) |
I59F |
probably benign |
Het |
| Ltn1 |
C |
T |
16: 87,200,961 (GRCm39) |
A1092T |
probably benign |
Het |
| Map1b |
A |
G |
13: 99,569,250 (GRCm39) |
V1157A |
unknown |
Het |
| Mboat1 |
A |
T |
13: 30,379,724 (GRCm39) |
M92L |
probably benign |
Het |
| Meis3 |
G |
T |
7: 15,916,378 (GRCm39) |
L284F |
probably damaging |
Het |
| Muc20 |
T |
C |
16: 32,599,403 (GRCm39) |
F3317L |
probably benign |
Het |
| Muc5b |
G |
T |
7: 141,417,778 (GRCm39) |
V3575F |
probably damaging |
Het |
| Polr1e |
C |
T |
4: 45,018,724 (GRCm39) |
T18I |
possibly damaging |
Het |
| Ppp4r1 |
G |
T |
17: 66,143,074 (GRCm39) |
A764S |
probably damaging |
Het |
| Psg29 |
A |
G |
7: 16,942,727 (GRCm39) |
T243A |
probably benign |
Het |
| Ptprn2 |
T |
C |
12: 116,685,753 (GRCm39) |
Y71H |
probably damaging |
Het |
| Radx |
T |
A |
X: 138,412,306 (GRCm39) |
V439E |
possibly damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sh3bp1 |
C |
T |
15: 78,795,622 (GRCm39) |
P584S |
probably benign |
Het |
| Slc4a4 |
T |
C |
5: 89,373,807 (GRCm39) |
V971A |
probably damaging |
Het |
| Stil |
T |
A |
4: 114,862,163 (GRCm39) |
H35Q |
probably damaging |
Het |
| Strn |
A |
T |
17: 78,990,321 (GRCm39) |
V65D |
probably damaging |
Het |
| Sumf1 |
T |
C |
6: 108,130,165 (GRCm39) |
N185D |
probably benign |
Het |
| Timm29 |
T |
C |
9: 21,504,887 (GRCm39) |
M185T |
probably damaging |
Het |
| Tjp3 |
T |
C |
10: 81,116,341 (GRCm39) |
K251R |
probably benign |
Het |
| Tubgcp6 |
A |
T |
15: 89,006,806 (GRCm39) |
M72K |
probably damaging |
Het |
| Utp14b |
T |
A |
1: 78,642,442 (GRCm39) |
D113E |
possibly damaging |
Het |
| Vps13b |
A |
G |
15: 35,646,507 (GRCm39) |
E1537G |
probably damaging |
Het |
| Zfr |
A |
G |
15: 12,154,593 (GRCm39) |
N592S |
probably damaging |
Het |
|
| Other mutations in Ddo |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00902:Ddo
|
APN |
10 |
40,523,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01784:Ddo
|
APN |
10 |
40,507,784 (GRCm39) |
splice site |
probably benign |
|
|
IGL01891:Ddo
|
APN |
10 |
40,523,643 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02559:Ddo
|
APN |
10 |
40,523,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02639:Ddo
|
APN |
10 |
40,523,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02884:Ddo
|
APN |
10 |
40,513,360 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1796:Ddo
|
UTSW |
10 |
40,523,625 (GRCm39) |
missense |
probably benign |
0.32 |
|
R2512:Ddo
|
UTSW |
10 |
40,508,935 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R4454:Ddo
|
UTSW |
10 |
40,523,543 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5517:Ddo
|
UTSW |
10 |
40,523,726 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6336:Ddo
|
UTSW |
10 |
40,509,027 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6516:Ddo
|
UTSW |
10 |
40,507,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6872:Ddo
|
UTSW |
10 |
40,513,414 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7405:Ddo
|
UTSW |
10 |
40,523,993 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7735:Ddo
|
UTSW |
10 |
40,507,770 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8309:Ddo
|
UTSW |
10 |
40,513,375 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9567:Ddo
|
UTSW |
10 |
40,523,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Ddo
|
UTSW |
10 |
40,523,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGATTTCATCCGGGGAGAATAATG -3'
(R):5'- ATGCAGCTGATCCAGGAGAC -3'
Sequencing Primer
(F):5'- GCCCTAAGCAAGGTGGTC -3'
(R):5'- CTGATCCAGGAGACCAAGGC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation