Incidental Mutation 'IGL00510:Aldh3a1'
| ID |
8763 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Aldh3a1
|
| Ensembl Gene |
ENSMUSG00000019102 |
| Gene Name |
aldehyde dehydrogenase family 3, subfamily A1 |
| Synonyms |
Ahd-4, Aldh, Aldh3, Ahd4 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00510
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
61099336-61109244 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 61104422 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 103
(E103G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104356
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019246]
[ENSMUST00000108716]
[ENSMUST00000147792]
|
| AlphaFold |
P47739 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000019246
AA Change: E103G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000019246
Gene: ENSMUSG00000019102
AA Change: E103G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldedh
|
1 |
428 |
3.6e-96 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108716
AA Change: E103G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104356
Gene: ENSMUSG00000019102
AA Change: E103G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldedh
|
1 |
428 |
4.1e-98 |
PFAM |
|
Pfam:LuxC
|
4 |
389 |
9.8e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147792
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Aldehyde dehydrogenases oxidize various aldehydes to the corresponding acids. They are involved in the detoxification of alcohol-derived acetaldehyde and in the metabolism of corticosteroids, biogenic amines, neurotransmitters, and lipid peroxidation. The enzyme encoded by this gene forms a cytoplasmic homodimer that preferentially oxidizes aromatic and medium-chain (6 carbons or more) saturated and unsaturated aldehyde substrates. It is thought to promote resistance to UV and 4-hydroxy-2-nonenal-induced oxidative damage in the cornea. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2008]
PHENOTYPE: Homozygous mutation of this gene does not result in a phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adh1 |
A |
G |
3: 137,995,668 (GRCm39) |
N357S |
probably damaging |
Het |
| Akap4 |
A |
G |
X: 6,942,863 (GRCm39) |
T389A |
probably damaging |
Het |
| Aldh3b3 |
C |
A |
19: 4,015,863 (GRCm39) |
Q278K |
probably benign |
Het |
| Ap3m2 |
A |
T |
8: 23,287,243 (GRCm39) |
|
probably null |
Het |
| Asxl3 |
G |
T |
18: 22,656,622 (GRCm39) |
C1544F |
probably damaging |
Het |
| Chd7 |
A |
G |
4: 8,801,404 (GRCm39) |
D716G |
probably damaging |
Het |
| Dennd1b |
G |
T |
1: 139,029,809 (GRCm39) |
R322L |
probably damaging |
Het |
| Dnah7a |
C |
T |
1: 53,540,701 (GRCm39) |
V2558M |
probably damaging |
Het |
| Fbp2 |
T |
C |
13: 62,989,698 (GRCm39) |
I203V |
possibly damaging |
Het |
| Gnai1 |
T |
A |
5: 18,496,617 (GRCm39) |
D102V |
probably benign |
Het |
| Gtf2h1 |
C |
T |
7: 46,468,634 (GRCm39) |
T524I |
possibly damaging |
Het |
| Hinfp |
G |
A |
9: 44,209,063 (GRCm39) |
R352C |
probably damaging |
Het |
| Lpin1 |
G |
A |
12: 16,603,993 (GRCm39) |
H613Y |
probably benign |
Het |
| Med29 |
C |
T |
7: 28,090,266 (GRCm39) |
A110T |
possibly damaging |
Het |
| Myo9a |
T |
C |
9: 59,739,464 (GRCm39) |
|
probably benign |
Het |
| Nlgn1 |
G |
T |
3: 25,490,654 (GRCm39) |
P329T |
probably benign |
Het |
| Osmr |
G |
T |
15: 6,853,112 (GRCm39) |
Y593* |
probably null |
Het |
| Otx2 |
T |
C |
14: 48,896,192 (GRCm39) |
T289A |
probably benign |
Het |
| Pkn2 |
T |
C |
3: 142,504,780 (GRCm39) |
T799A |
probably damaging |
Het |
| Plcb1 |
T |
A |
2: 135,093,676 (GRCm39) |
V163D |
possibly damaging |
Het |
| Rgs3 |
G |
A |
4: 62,619,417 (GRCm39) |
A501T |
possibly damaging |
Het |
| Rnf103 |
T |
C |
6: 71,486,733 (GRCm39) |
S455P |
probably damaging |
Het |
| Slc9c1 |
A |
G |
16: 45,360,002 (GRCm39) |
T19A |
probably benign |
Het |
| Sp110 |
A |
C |
1: 85,505,050 (GRCm39) |
F434C |
probably benign |
Het |
| Spryd7 |
T |
A |
14: 61,783,190 (GRCm39) |
N111Y |
probably damaging |
Het |
| Zfp687 |
A |
G |
3: 94,915,758 (GRCm39) |
S1005P |
probably damaging |
Het |
|
| Other mutations in Aldh3a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00833:Aldh3a1
|
APN |
11 |
61,108,006 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02281:Aldh3a1
|
APN |
11 |
61,107,949 (GRCm39) |
splice site |
probably null |
|
|
IGL02608:Aldh3a1
|
APN |
11 |
61,107,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03294:Aldh3a1
|
APN |
11 |
61,105,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0006:Aldh3a1
|
UTSW |
11 |
61,107,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0453:Aldh3a1
|
UTSW |
11 |
61,106,338 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0612:Aldh3a1
|
UTSW |
11 |
61,105,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0637:Aldh3a1
|
UTSW |
11 |
61,106,304 (GRCm39) |
unclassified |
probably benign |
|
|
R1613:Aldh3a1
|
UTSW |
11 |
61,105,377 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3423:Aldh3a1
|
UTSW |
11 |
61,106,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3772:Aldh3a1
|
UTSW |
11 |
61,105,431 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4673:Aldh3a1
|
UTSW |
11 |
61,104,320 (GRCm39) |
missense |
probably benign |
|
|
R4997:Aldh3a1
|
UTSW |
11 |
61,103,137 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5425:Aldh3a1
|
UTSW |
11 |
61,104,407 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5514:Aldh3a1
|
UTSW |
11 |
61,108,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5679:Aldh3a1
|
UTSW |
11 |
61,107,994 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6150:Aldh3a1
|
UTSW |
11 |
61,104,334 (GRCm39) |
missense |
probably benign |
|
|
R6662:Aldh3a1
|
UTSW |
11 |
61,105,481 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6986:Aldh3a1
|
UTSW |
11 |
61,105,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8720:Aldh3a1
|
UTSW |
11 |
61,104,305 (GRCm39) |
missense |
probably benign |
0.32 |
|
R8821:Aldh3a1
|
UTSW |
11 |
61,107,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8831:Aldh3a1
|
UTSW |
11 |
61,107,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9034:Aldh3a1
|
UTSW |
11 |
61,104,475 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9599:Aldh3a1
|
UTSW |
11 |
61,107,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9793:Aldh3a1
|
UTSW |
11 |
61,108,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation