Incidental Mutation 'IGL01374:Aldh3a2'
| ID |
78641 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Aldh3a2
|
| Ensembl Gene |
ENSMUSG00000010025 |
| Gene Name |
aldehyde dehydrogenase family 3, subfamily A2 |
| Synonyms |
Ahd3-r, Ahd-3, Aldh4-r, Ahd-3r, Ahd3, Aldh4, FALDH |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.113)
|
| Stock # |
IGL01374
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
61114240-61158267 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 61139828 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 435
(V435I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067767
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066277]
[ENSMUST00000074127]
[ENSMUST00000108715]
|
| AlphaFold |
P47740 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066277
AA Change: V435I
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000067767
Gene: ENSMUSG00000010025
AA Change: V435I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldedh
|
1 |
424 |
3.8e-91 |
PFAM |
|
Pfam:LuxC
|
82 |
385 |
3.3e-8 |
PFAM |
|
transmembrane domain
|
463 |
480 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074127
AA Change: V435I
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000073764
Gene: ENSMUSG00000010025
AA Change: V435I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldedh
|
2 |
424 |
5.9e-93 |
PFAM |
|
Pfam:LuxC
|
78 |
385 |
5.9e-9 |
PFAM |
|
transmembrane domain
|
463 |
480 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108715
AA Change: V435I
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000104355
Gene: ENSMUSG00000010025
AA Change: V435I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldedh
|
2 |
424 |
4e-93 |
PFAM |
|
Pfam:LuxC
|
78 |
385 |
8.5e-9 |
PFAM |
|
transmembrane domain
|
462 |
484 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141368
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000208086
AA Change: V55I
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Aldehyde dehydrogenase isozymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This gene product catalyzes the oxidation of long-chain aliphatic aldehydes to fatty acid. Mutations in the gene cause Sjogren-Larsson syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice exhibit impaired long-chain base metabolism, hyperproliferation of keratinocytes, widened intercellular spaces in the basal layer of the epidermis, and delayed barrier recovery after stratum corneum perturbation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933402N03Rik |
T |
C |
7: 130,747,830 (GRCm39) |
H54R |
probably benign |
Het |
| Acsl6 |
T |
C |
11: 54,229,245 (GRCm39) |
V359A |
probably damaging |
Het |
| Atm |
A |
T |
9: 53,443,024 (GRCm39) |
S80T |
possibly damaging |
Het |
| Atp8b4 |
A |
T |
2: 126,225,577 (GRCm39) |
|
probably benign |
Het |
| Atxn1 |
T |
C |
13: 45,721,903 (GRCm39) |
|
probably benign |
Het |
| Chd3 |
T |
C |
11: 69,250,806 (GRCm39) |
E641G |
probably damaging |
Het |
| Clpb |
T |
C |
7: 101,422,335 (GRCm39) |
V346A |
probably damaging |
Het |
| Ctnnbl1 |
T |
A |
2: 157,678,613 (GRCm39) |
|
probably null |
Het |
| Cyp2b19 |
C |
T |
7: 26,458,504 (GRCm39) |
P73L |
probably benign |
Het |
| Dcc |
T |
C |
18: 71,507,624 (GRCm39) |
Y916C |
probably damaging |
Het |
| Fat4 |
A |
G |
3: 38,941,647 (GRCm39) |
N180S |
probably damaging |
Het |
| Foxi1 |
A |
C |
11: 34,157,984 (GRCm39) |
C14G |
probably damaging |
Het |
| Fut4 |
G |
T |
9: 14,662,786 (GRCm39) |
F169L |
probably benign |
Het |
| Grip1 |
T |
C |
10: 119,885,273 (GRCm39) |
S748P |
probably benign |
Het |
| Hnrnpr |
T |
C |
4: 136,054,729 (GRCm39) |
|
probably benign |
Het |
| Ifnz |
G |
A |
4: 88,701,578 (GRCm39) |
|
probably benign |
Het |
| Krt28 |
A |
G |
11: 99,262,294 (GRCm39) |
V232A |
probably benign |
Het |
| Lyar |
C |
A |
5: 38,385,391 (GRCm39) |
|
probably null |
Het |
| Manba |
G |
A |
3: 135,260,541 (GRCm39) |
W575* |
probably null |
Het |
| Morc3 |
T |
A |
16: 93,641,101 (GRCm39) |
D44E |
probably damaging |
Het |
| Mrc2 |
T |
A |
11: 105,238,469 (GRCm39) |
Y1205* |
probably null |
Het |
| Myh2 |
A |
T |
11: 67,068,250 (GRCm39) |
T293S |
probably benign |
Het |
| Nlrp10 |
T |
A |
7: 108,523,788 (GRCm39) |
K564I |
possibly damaging |
Het |
| Nuak1 |
A |
G |
10: 84,210,532 (GRCm39) |
S519P |
probably damaging |
Het |
| Or12k5 |
T |
C |
2: 36,894,942 (GRCm39) |
H228R |
probably benign |
Het |
| Or9m2 |
T |
C |
2: 87,820,892 (GRCm39) |
F146L |
probably benign |
Het |
| Padi2 |
T |
A |
4: 140,660,496 (GRCm39) |
N325K |
probably damaging |
Het |
| Pcdhb19 |
A |
T |
18: 37,631,042 (GRCm39) |
Y279F |
probably damaging |
Het |
| Phldb1 |
A |
G |
9: 44,607,464 (GRCm39) |
L1247P |
probably damaging |
Het |
| Rmdn3 |
A |
G |
2: 118,984,428 (GRCm39) |
V108A |
probably damaging |
Het |
| Slc22a5 |
A |
G |
11: 53,758,490 (GRCm39) |
F437L |
probably benign |
Het |
| Slc3a2 |
C |
T |
19: 8,690,701 (GRCm39) |
|
probably null |
Het |
| Slc5a3 |
T |
A |
16: 91,874,006 (GRCm39) |
M21K |
probably benign |
Het |
| Spink5 |
T |
A |
18: 44,122,471 (GRCm39) |
F312Y |
possibly damaging |
Het |
| Stab1 |
T |
C |
14: 30,869,032 (GRCm39) |
Y1531C |
probably damaging |
Het |
| Tln2 |
C |
A |
9: 67,169,205 (GRCm39) |
A433S |
probably damaging |
Het |
| Usp24 |
C |
T |
4: 106,237,296 (GRCm39) |
L1076F |
possibly damaging |
Het |
| Vmn2r117 |
T |
C |
17: 23,697,356 (GRCm39) |
Y112C |
possibly damaging |
Het |
| Vmn2r16 |
C |
T |
5: 109,478,283 (GRCm39) |
L13F |
probably benign |
Het |
| Vmn2r76 |
T |
C |
7: 85,874,857 (GRCm39) |
M707V |
probably benign |
Het |
| Zmym4 |
A |
T |
4: 126,762,750 (GRCm39) |
F1358I |
probably damaging |
Het |
|
| Other mutations in Aldh3a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00941:Aldh3a2
|
APN |
11 |
61,153,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01514:Aldh3a2
|
APN |
11 |
61,144,624 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01633:Aldh3a2
|
APN |
11 |
61,139,731 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL03153:Aldh3a2
|
APN |
11 |
61,149,665 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0095:Aldh3a2
|
UTSW |
11 |
61,141,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0126:Aldh3a2
|
UTSW |
11 |
61,115,384 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0164:Aldh3a2
|
UTSW |
11 |
61,139,714 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0164:Aldh3a2
|
UTSW |
11 |
61,139,714 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0646:Aldh3a2
|
UTSW |
11 |
61,144,541 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0699:Aldh3a2
|
UTSW |
11 |
61,153,148 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1398:Aldh3a2
|
UTSW |
11 |
61,147,562 (GRCm39) |
splice site |
probably null |
|
|
R1443:Aldh3a2
|
UTSW |
11 |
61,155,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1454:Aldh3a2
|
UTSW |
11 |
61,155,928 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1551:Aldh3a2
|
UTSW |
11 |
61,144,470 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1557:Aldh3a2
|
UTSW |
11 |
61,139,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1701:Aldh3a2
|
UTSW |
11 |
61,147,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3808:Aldh3a2
|
UTSW |
11 |
61,149,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4871:Aldh3a2
|
UTSW |
11 |
61,153,065 (GRCm39) |
nonsense |
probably null |
|
|
R5304:Aldh3a2
|
UTSW |
11 |
61,144,538 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6318:Aldh3a2
|
UTSW |
11 |
61,153,245 (GRCm39) |
nonsense |
probably null |
|
|
R6759:Aldh3a2
|
UTSW |
11 |
61,156,088 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6768:Aldh3a2
|
UTSW |
11 |
61,144,536 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7939:Aldh3a2
|
UTSW |
11 |
61,115,424 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8803:Aldh3a2
|
UTSW |
11 |
61,139,756 (GRCm39) |
missense |
probably benign |
|
|
R9130:Aldh3a2
|
UTSW |
11 |
61,139,758 (GRCm39) |
missense |
probably benign |
|
|
R9223:Aldh3a2
|
UTSW |
11 |
61,156,037 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9265:Aldh3a2
|
UTSW |
11 |
61,153,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Aldh3a2
|
UTSW |
11 |
61,155,109 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2013-11-05 |
Incidental Mutation