Incidental Mutation 'IGL02281:Aldh3a1'
ID |
289822 |
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 # |
IGL02281
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
61099336-61109244 bp(+) (GRCm39) |
Type of Mutation |
splice site (4790 bp from exon) |
DNA Base Change (assembly) |
T to G
at 61107949 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118613
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019246]
[ENSMUST00000108716]
[ENSMUST00000147792]
|
AlphaFold |
P47739 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000019246
AA Change: M331R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000019246 Gene: ENSMUSG00000019102 AA Change: M331R
Domain | Start | End | E-Value | Type |
Pfam:Aldedh
|
1 |
428 |
3.6e-96 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000108716
AA Change: M331R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000104356 Gene: ENSMUSG00000019102 AA Change: M331R
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 null
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agrp |
T |
C |
8: 106,293,786 (GRCm39) |
E60G |
probably benign |
Het |
Bach2 |
T |
C |
4: 32,562,513 (GRCm39) |
C327R |
possibly damaging |
Het |
Bcam |
C |
T |
7: 19,492,616 (GRCm39) |
G523D |
probably damaging |
Het |
Bmpr2 |
T |
A |
1: 59,907,503 (GRCm39) |
D865E |
probably damaging |
Het |
Calm1 |
A |
T |
12: 100,171,883 (GRCm39) |
I112F |
probably damaging |
Het |
Ceacam3 |
T |
C |
7: 16,895,656 (GRCm39) |
V542A |
probably benign |
Het |
Clec5a |
A |
T |
6: 40,561,336 (GRCm39) |
D36E |
probably benign |
Het |
Clspn |
T |
A |
4: 126,459,563 (GRCm39) |
C321S |
possibly damaging |
Het |
Cmtr1 |
T |
A |
17: 29,910,255 (GRCm39) |
D453E |
probably benign |
Het |
Cntnap1 |
T |
A |
11: 101,073,080 (GRCm39) |
D561E |
possibly damaging |
Het |
Cul5 |
A |
G |
9: 53,546,349 (GRCm39) |
V137A |
possibly damaging |
Het |
Cyp2b9 |
A |
G |
7: 25,900,529 (GRCm39) |
Y389C |
probably damaging |
Het |
Ddi2 |
A |
G |
4: 141,419,730 (GRCm39) |
V340A |
probably benign |
Het |
Etv4 |
T |
C |
11: 101,664,545 (GRCm39) |
Y235C |
probably damaging |
Het |
Gm3099 |
G |
A |
14: 15,347,225 (GRCm39) |
|
probably benign |
Het |
Gpsm1 |
T |
A |
2: 26,229,638 (GRCm39) |
|
probably benign |
Het |
Idh2 |
A |
G |
7: 79,745,550 (GRCm39) |
|
probably null |
Het |
Kit |
G |
A |
5: 75,815,194 (GRCm39) |
E973K |
possibly damaging |
Het |
Lilra5 |
A |
G |
7: 4,241,782 (GRCm39) |
I194V |
probably benign |
Het |
Lrp6 |
A |
C |
6: 134,434,697 (GRCm39) |
N1335K |
probably benign |
Het |
Map9 |
G |
A |
3: 82,298,453 (GRCm39) |
E613K |
possibly damaging |
Het |
Mroh2b |
G |
A |
15: 4,981,745 (GRCm39) |
A1519T |
probably benign |
Het |
Nefm |
A |
G |
14: 68,361,913 (GRCm39) |
V117A |
probably damaging |
Het |
Nr2c2 |
T |
A |
6: 92,131,495 (GRCm39) |
S186T |
probably benign |
Het |
Pde2a |
G |
A |
7: 101,130,599 (GRCm39) |
A80T |
probably benign |
Het |
Plcd1 |
A |
T |
9: 118,903,841 (GRCm39) |
C334S |
probably benign |
Het |
Pomt1 |
T |
C |
2: 32,138,658 (GRCm39) |
S425P |
possibly damaging |
Het |
Pspc1 |
G |
T |
14: 56,960,635 (GRCm39) |
P497T |
probably benign |
Het |
Rnf123 |
G |
A |
9: 107,948,651 (GRCm39) |
P58L |
probably benign |
Het |
Rph3a |
T |
C |
5: 121,086,896 (GRCm39) |
T435A |
probably damaging |
Het |
Rsbn1 |
T |
C |
3: 103,869,777 (GRCm39) |
L746P |
probably damaging |
Het |
Sfrp2 |
A |
G |
3: 83,680,446 (GRCm39) |
E202G |
possibly damaging |
Het |
Slc25a38 |
T |
C |
9: 119,946,598 (GRCm39) |
S111P |
probably damaging |
Het |
Tfcp2l1 |
T |
C |
1: 118,597,110 (GRCm39) |
|
probably benign |
Het |
Tonsl |
A |
T |
15: 76,518,274 (GRCm39) |
L566H |
probably damaging |
Het |
Tsc1 |
C |
A |
2: 28,553,607 (GRCm39) |
D153E |
probably damaging |
Het |
Vmn2r37 |
A |
T |
7: 9,220,881 (GRCm39) |
H327Q |
possibly damaging |
Het |
|
Other mutations in Aldh3a1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00510:Aldh3a1
|
APN |
11 |
61,104,422 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00833:Aldh3a1
|
APN |
11 |
61,108,006 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
2015-04-16 |