Incidental Mutation 'R5679:Aldh3a1'
ID |
442939 |
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 |
043176-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5679 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
61099336-61109244 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 61107994 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 346
(R346Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104356
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019246]
[ENSMUST00000108716]
[ENSMUST00000147792]
|
AlphaFold |
P47739 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000019246
AA Change: R346Q
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000019246 Gene: ENSMUSG00000019102 AA Change: R346Q
Domain | Start | End | E-Value | Type |
Pfam:Aldedh
|
1 |
428 |
3.6e-96 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108716
AA Change: R346Q
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000104356 Gene: ENSMUSG00000019102 AA Change: R346Q
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 |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.2%
|
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bcat1 |
A |
T |
6: 144,953,474 (GRCm39) |
F304L |
probably damaging |
Het |
Ccdc178 |
T |
G |
18: 22,200,486 (GRCm39) |
K439N |
probably benign |
Het |
Cdkn2a |
T |
C |
4: 89,195,098 (GRCm39) |
D84G |
possibly damaging |
Het |
Chst8 |
T |
A |
7: 34,374,729 (GRCm39) |
H370L |
probably damaging |
Het |
Dimt1 |
A |
G |
13: 107,084,108 (GRCm39) |
T32A |
possibly damaging |
Het |
Dph6 |
T |
C |
2: 114,398,422 (GRCm39) |
I162V |
probably benign |
Het |
E230025N22Rik |
C |
T |
18: 36,818,435 (GRCm39) |
G465R |
possibly damaging |
Het |
Fam3d |
T |
C |
14: 8,349,305 (GRCm38) |
E215G |
probably damaging |
Het |
Fbxw7 |
T |
A |
3: 84,884,794 (GRCm39) |
N612K |
probably damaging |
Het |
Gpr179 |
A |
G |
11: 97,227,571 (GRCm39) |
V1528A |
probably benign |
Het |
Gucy2g |
T |
A |
19: 55,219,511 (GRCm39) |
K370N |
possibly damaging |
Het |
Ipo13 |
A |
T |
4: 117,752,029 (GRCm39) |
W903R |
probably damaging |
Het |
Itgax |
T |
A |
7: 127,734,162 (GRCm39) |
H311Q |
probably benign |
Het |
Kmt2d |
T |
C |
15: 98,752,153 (GRCm39) |
|
probably benign |
Het |
Lox |
T |
C |
18: 52,661,989 (GRCm39) |
N138S |
probably benign |
Het |
Mre11a |
T |
A |
9: 14,698,215 (GRCm39) |
I21N |
probably damaging |
Het |
Ncan |
T |
G |
8: 70,565,276 (GRCm39) |
Y217S |
probably damaging |
Het |
Nfil3 |
A |
G |
13: 53,122,527 (GRCm39) |
F126L |
possibly damaging |
Het |
Nfu1 |
T |
C |
6: 86,996,379 (GRCm39) |
V110A |
probably damaging |
Het |
Or12e8 |
T |
C |
2: 87,187,889 (GRCm39) |
F34L |
possibly damaging |
Het |
Or5e1 |
A |
G |
7: 108,354,203 (GRCm39) |
I47V |
probably damaging |
Het |
Or5g9 |
A |
T |
2: 85,552,390 (GRCm39) |
I214F |
probably damaging |
Het |
Palld |
T |
C |
8: 62,137,979 (GRCm39) |
Q592R |
possibly damaging |
Het |
Pcdhac1 |
T |
A |
18: 37,225,530 (GRCm39) |
L781Q |
probably damaging |
Het |
Rcl1 |
A |
G |
19: 29,098,658 (GRCm39) |
|
probably null |
Het |
Saxo1 |
C |
T |
4: 86,363,272 (GRCm39) |
V404I |
possibly damaging |
Het |
Scrt1 |
T |
A |
15: 76,403,262 (GRCm39) |
T243S |
unknown |
Het |
Slc22a30 |
G |
T |
19: 8,313,135 (GRCm39) |
T550K |
possibly damaging |
Het |
Strc |
A |
G |
2: 121,198,581 (GRCm39) |
S1437P |
probably benign |
Het |
Tecpr1 |
T |
A |
5: 144,144,241 (GRCm39) |
I654F |
possibly damaging |
Het |
Tfcp2l1 |
A |
G |
1: 118,596,377 (GRCm39) |
M371V |
probably benign |
Het |
Vmn2r11 |
T |
C |
5: 109,202,708 (GRCm39) |
N123S |
probably benign |
Het |
Wdr81 |
T |
C |
11: 75,343,749 (GRCm39) |
D506G |
probably damaging |
Het |
Xylt1 |
A |
G |
7: 117,242,877 (GRCm39) |
D640G |
probably damaging |
Het |
Zfp148 |
T |
G |
16: 33,316,156 (GRCm39) |
M276R |
probably damaging |
Het |
Zfp329 |
G |
A |
7: 12,543,958 (GRCm39) |
T522I |
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 |
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 |
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'- CTAGATGTTGGCACTGGCTG -3'
(R):5'- TGGCCATTTCATCCACAGG -3'
Sequencing Primer
(F):5'- CACTGGCTGTGTGTATATGTATG -3'
(R):5'- TTGGTGCAAGGTCACACAC -3'
|
Posted On |
2016-11-09 |