Incidental Mutation 'R3423:Aldh3a1'
ID |
267126 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aldh3a1
|
Ensembl Gene |
ENSMUSG00000019102 |
Gene Name |
aldehyde dehydrogenase family 3, subfamily A1 |
Synonyms |
Ahd-4, Aldh, Aldh3, Ahd4 |
MMRRC Submission |
040641-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3423 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
61099336-61109244 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 61106362 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 246
(A246T)
|
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: A246T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000019246 Gene: ENSMUSG00000019102 AA Change: A246T
Domain | Start | End | E-Value | Type |
Pfam:Aldedh
|
1 |
428 |
3.6e-96 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000108716
AA Change: A246T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000104356 Gene: ENSMUSG00000019102 AA Change: A246T
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
|
Meta Mutation Damage Score |
0.4451 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
Validation Efficiency |
100% (38/38) |
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 |
Akap8 |
A |
G |
17: 32,535,429 (GRCm39) |
F195S |
possibly damaging |
Het |
Caskin1 |
T |
A |
17: 24,718,539 (GRCm39) |
N331K |
probably damaging |
Het |
Ceacam5 |
G |
A |
7: 17,491,562 (GRCm39) |
S644N |
possibly damaging |
Het |
Csmd3 |
A |
T |
15: 47,710,648 (GRCm39) |
D1646E |
probably damaging |
Het |
Cyp4a12a |
A |
C |
4: 115,184,471 (GRCm39) |
K282T |
probably benign |
Het |
Dtnb |
C |
T |
12: 3,641,962 (GRCm39) |
R42* |
probably null |
Het |
Dyrk3 |
A |
G |
1: 131,057,219 (GRCm39) |
I318T |
probably damaging |
Het |
Fhip2b |
G |
A |
14: 70,824,025 (GRCm39) |
T535M |
probably damaging |
Het |
Gm11110 |
T |
C |
17: 57,410,435 (GRCm39) |
|
probably benign |
Het |
Gm8674 |
T |
A |
13: 50,055,792 (GRCm39) |
|
noncoding transcript |
Het |
Igfn1 |
A |
G |
1: 135,926,379 (GRCm39) |
S24P |
probably benign |
Het |
Inpp4b |
A |
G |
8: 82,678,890 (GRCm39) |
M307V |
possibly damaging |
Het |
Ism2 |
T |
C |
12: 87,333,871 (GRCm39) |
N58S |
probably benign |
Het |
Kmt2a |
A |
C |
9: 44,731,394 (GRCm39) |
|
probably benign |
Het |
Limk1 |
A |
G |
5: 134,701,523 (GRCm39) |
|
probably null |
Het |
Lrrc14 |
T |
A |
15: 76,597,318 (GRCm39) |
|
probably null |
Het |
Mapt |
C |
T |
11: 104,189,548 (GRCm39) |
R189* |
probably null |
Het |
Meltf |
C |
T |
16: 31,715,343 (GRCm39) |
R679* |
probably null |
Het |
Muc6 |
G |
A |
7: 141,218,313 (GRCm39) |
S2120F |
possibly damaging |
Het |
Mug2 |
T |
C |
6: 122,024,465 (GRCm39) |
|
probably benign |
Het |
Myo15a |
G |
A |
11: 60,401,126 (GRCm39) |
|
probably null |
Het |
Nup98 |
T |
C |
7: 101,834,084 (GRCm39) |
T293A |
probably benign |
Het |
Nwd2 |
A |
T |
5: 63,957,504 (GRCm39) |
Y278F |
probably damaging |
Het |
Or12d12 |
T |
A |
17: 37,610,761 (GRCm39) |
D184V |
probably benign |
Het |
Phactr4 |
A |
C |
4: 132,097,058 (GRCm39) |
D496E |
probably benign |
Het |
Pramel6 |
T |
A |
2: 87,341,140 (GRCm39) |
|
probably null |
Het |
Ptprq |
C |
T |
10: 107,418,337 (GRCm39) |
A1680T |
probably damaging |
Het |
Retnlb |
T |
A |
16: 48,639,008 (GRCm39) |
C70S |
probably damaging |
Het |
Ros1 |
C |
A |
10: 52,004,512 (GRCm39) |
|
probably null |
Het |
Sez6l |
T |
C |
5: 112,574,615 (GRCm39) |
D875G |
probably damaging |
Het |
Slc18b1 |
T |
G |
10: 23,698,874 (GRCm39) |
M348R |
probably damaging |
Het |
Slc36a3 |
G |
T |
11: 55,033,607 (GRCm39) |
T137K |
probably benign |
Het |
Sos2 |
T |
C |
12: 69,650,327 (GRCm39) |
N865D |
probably damaging |
Het |
Sp9 |
G |
A |
2: 73,104,315 (GRCm39) |
A290T |
probably benign |
Het |
Spg11 |
C |
T |
2: 121,901,534 (GRCm39) |
V1469I |
probably benign |
Het |
Unc13c |
G |
T |
9: 73,837,935 (GRCm39) |
A972D |
possibly damaging |
Het |
Vwa3a |
T |
C |
7: 120,398,334 (GRCm39) |
L945P |
probably 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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTGCAGAAAGCCCTGTGGTG -3'
(R):5'- CAGGTACCCTGTCACCACATTG -3'
Sequencing Primer
(F):5'- ACCAGCTCAGTGTGTCTGTCAG -3'
(R):5'- CACCACATTGTATTTCATAAACAGC -3'
|
Posted On |
2015-02-18 |