Incidental Mutation 'R6662:Aldh3a1'
ID |
528030 |
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 |
044782-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6662 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
61099336-61109244 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 61105481 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 196
(V196I)
|
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: V196I
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000019246 Gene: ENSMUSG00000019102 AA Change: V196I
Domain | Start | End | E-Value | Type |
Pfam:Aldedh
|
1 |
428 |
3.6e-96 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108716
AA Change: V196I
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000104356 Gene: ENSMUSG00000019102 AA Change: V196I
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
Validation Efficiency |
100% (46/46) |
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ablim1 |
A |
G |
19: 57,062,285 (GRCm39) |
|
probably null |
Het |
Acox1 |
A |
G |
11: 116,066,149 (GRCm39) |
Y418H |
probably damaging |
Het |
Akr1b1 |
C |
T |
6: 34,286,939 (GRCm39) |
V206M |
possibly damaging |
Het |
Aox3 |
A |
G |
1: 58,157,774 (GRCm39) |
K44E |
probably damaging |
Het |
Bad |
T |
A |
19: 6,928,438 (GRCm39) |
|
probably benign |
Het |
BC034090 |
G |
T |
1: 155,102,085 (GRCm39) |
Q60K |
possibly damaging |
Het |
Casp6 |
A |
G |
3: 129,705,875 (GRCm39) |
T181A |
probably benign |
Het |
Catsperg2 |
G |
A |
7: 29,418,938 (GRCm39) |
|
probably benign |
Het |
Ccdc14 |
T |
C |
16: 34,511,164 (GRCm39) |
L46P |
probably damaging |
Het |
Ces1b |
A |
G |
8: 93,790,697 (GRCm39) |
L364S |
probably benign |
Het |
Cfap45 |
T |
C |
1: 172,357,417 (GRCm39) |
I15T |
probably benign |
Het |
Dph5 |
G |
A |
3: 115,722,205 (GRCm39) |
E228K |
probably benign |
Het |
Fat4 |
G |
T |
3: 39,010,970 (GRCm39) |
L2023F |
possibly damaging |
Het |
Garem1 |
T |
C |
18: 21,281,304 (GRCm39) |
N351D |
probably benign |
Het |
Grm2 |
C |
T |
9: 106,525,252 (GRCm39) |
A488T |
probably benign |
Het |
Ifit3b |
A |
G |
19: 34,589,337 (GRCm39) |
E171G |
probably damaging |
Het |
Il1rn |
A |
T |
2: 24,226,887 (GRCm39) |
|
probably null |
Het |
Itih5 |
A |
T |
2: 10,253,992 (GRCm39) |
I748F |
probably benign |
Het |
Kcnh5 |
C |
A |
12: 75,054,385 (GRCm39) |
D520Y |
probably damaging |
Het |
Mgat5 |
C |
A |
1: 127,396,974 (GRCm39) |
H574N |
probably damaging |
Het |
Moxd1 |
A |
C |
10: 24,160,658 (GRCm39) |
D437A |
probably damaging |
Het |
Mybpc2 |
A |
G |
7: 44,155,590 (GRCm39) |
F888L |
probably benign |
Het |
Ncs1 |
T |
A |
2: 31,177,372 (GRCm39) |
L183Q |
probably damaging |
Het |
Neto2 |
A |
T |
8: 86,389,844 (GRCm39) |
D206E |
probably damaging |
Het |
Omp |
A |
G |
7: 97,794,546 (GRCm39) |
L27P |
probably damaging |
Het |
Oxsm |
A |
G |
14: 16,242,287 (GRCm38) |
S161P |
probably benign |
Het |
Pate6 |
C |
A |
9: 35,701,296 (GRCm39) |
R6M |
possibly damaging |
Het |
Pde4b |
A |
G |
4: 102,459,095 (GRCm39) |
I381M |
possibly damaging |
Het |
Pramel5 |
A |
T |
4: 143,999,675 (GRCm39) |
N137K |
probably benign |
Het |
Prss33 |
T |
C |
17: 24,052,934 (GRCm39) |
S247G |
probably damaging |
Het |
Rassf9 |
T |
A |
10: 102,381,899 (GRCm39) |
L425Q |
possibly damaging |
Het |
Setx |
A |
T |
2: 29,048,126 (GRCm39) |
D1909V |
probably damaging |
Het |
Slc26a3 |
A |
T |
12: 31,507,345 (GRCm39) |
K402* |
probably null |
Het |
Slco1a6 |
G |
A |
6: 142,078,941 (GRCm39) |
T118I |
probably damaging |
Het |
Syne1 |
A |
G |
10: 5,078,416 (GRCm39) |
L6769P |
probably damaging |
Het |
Tas2r107 |
A |
T |
6: 131,636,452 (GRCm39) |
V199D |
possibly damaging |
Het |
Tchp |
A |
G |
5: 114,858,076 (GRCm39) |
|
probably null |
Het |
Trdn |
A |
T |
10: 33,350,483 (GRCm39) |
N684I |
probably damaging |
Het |
Trio |
G |
T |
15: 27,855,082 (GRCm39) |
T700K |
probably benign |
Het |
Ttn |
C |
T |
2: 76,586,242 (GRCm39) |
V20084I |
probably benign |
Het |
Ubl3 |
A |
T |
5: 148,446,116 (GRCm39) |
Y62* |
probably null |
Het |
Uckl1 |
A |
G |
2: 181,215,053 (GRCm39) |
Y267H |
possibly damaging |
Het |
Zfp1005 |
G |
A |
2: 150,108,172 (GRCm39) |
|
probably null |
Het |
Zfp786 |
T |
C |
6: 47,803,920 (GRCm39) |
N41D |
probably damaging |
Het |
Zfp983 |
T |
C |
17: 21,881,001 (GRCm39) |
S310P |
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 |
R5679:Aldh3a1
|
UTSW |
11 |
61,107,994 (GRCm39) |
missense |
probably benign |
0.00 |
R6150:Aldh3a1
|
UTSW |
11 |
61,104,334 (GRCm39) |
missense |
probably benign |
|
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'- TGCCCATGTAAGAGCTGAGG -3'
(R):5'- GCCATAAAACTTGATACCATCATGG -3'
Sequencing Primer
(F):5'- GCAGCCAGTCTCCCATTG -3'
(R):5'- CCATCATGGTAGTAGCAAGGTAG -3'
|
Posted On |
2018-07-24 |