Incidental Mutation 'R0095:Aldh3a2'
| ID |
16594 |
| Institutional Source |
Beutler Lab
|
| 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 |
| MMRRC Submission |
038381-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.113)
|
| Stock # |
R0095 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
61114240-61158267 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 61141774 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 21
(G21D)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066277]
[ENSMUST00000074127]
[ENSMUST00000108715]
|
| AlphaFold |
P47740 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000066277
AA Change: G401D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000067767
Gene: ENSMUSG00000010025
AA Change: G401D
| 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 damaging
Transcript: ENSMUST00000074127
AA Change: G401D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000073764
Gene: ENSMUSG00000010025
AA Change: G401D
| 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 damaging
Transcript: ENSMUST00000108715
AA Change: G401D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104355
Gene: ENSMUSG00000010025
AA Change: G401D
| 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 |
probably damaging
Transcript: ENSMUST00000208086
AA Change: G21D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 88.6%
- 3x: 85.1%
- 10x: 74.3%
- 20x: 56.3%
|
| Validation Efficiency |
88% (50/57) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adhfe1 |
T |
C |
1: 9,630,402 (GRCm39) |
I317T |
possibly damaging |
Het |
| Alms1 |
C |
A |
6: 85,597,235 (GRCm39) |
T1156N |
possibly damaging |
Het |
| Anxa8 |
G |
A |
14: 33,808,028 (GRCm39) |
A6T |
probably benign |
Het |
| Arhgef4 |
C |
T |
1: 34,771,451 (GRCm39) |
Q86* |
probably null |
Het |
| Atp4a |
T |
A |
7: 30,420,160 (GRCm39) |
I769N |
probably damaging |
Het |
| Cacnb2 |
G |
T |
2: 14,963,586 (GRCm39) |
V61F |
probably damaging |
Het |
| Clcf1 |
T |
G |
19: 4,265,842 (GRCm39) |
|
probably benign |
Het |
| Cmah |
G |
T |
13: 24,620,668 (GRCm39) |
A301S |
probably benign |
Het |
| Col6a4 |
A |
G |
9: 105,952,555 (GRCm39) |
W448R |
probably benign |
Het |
| Csmd1 |
A |
T |
8: 16,283,065 (GRCm39) |
D630E |
probably damaging |
Het |
| Dock10 |
A |
T |
1: 80,501,788 (GRCm39) |
Y1434N |
probably benign |
Het |
| Etl4 |
A |
G |
2: 20,748,679 (GRCm39) |
D137G |
probably damaging |
Het |
| Fer |
A |
T |
17: 64,248,321 (GRCm39) |
E361V |
possibly damaging |
Het |
| Foxp2 |
C |
A |
6: 15,196,976 (GRCm39) |
A6E |
probably damaging |
Het |
| Gpr3 |
T |
A |
4: 132,938,597 (GRCm39) |
D25V |
probably benign |
Het |
| Gstm7 |
A |
T |
3: 107,837,879 (GRCm39) |
|
probably benign |
Het |
| Gys1 |
T |
C |
7: 45,094,073 (GRCm39) |
V332A |
possibly damaging |
Het |
| Igsf10 |
A |
T |
3: 59,238,617 (GRCm39) |
Y521* |
probably null |
Het |
| Itk |
T |
C |
11: 46,233,279 (GRCm39) |
D266G |
probably damaging |
Het |
| Kdm1a |
C |
T |
4: 136,278,205 (GRCm39) |
R839H |
probably benign |
Het |
| Lypla1 |
T |
C |
1: 4,900,550 (GRCm39) |
|
probably benign |
Het |
| Mmp1a |
G |
A |
9: 7,465,621 (GRCm39) |
G186D |
possibly damaging |
Het |
| Myl3 |
A |
C |
9: 110,596,997 (GRCm39) |
D119A |
probably damaging |
Het |
| Necab1 |
T |
A |
4: 14,960,027 (GRCm39) |
N307Y |
possibly damaging |
Het |
| Or5p81 |
A |
C |
7: 108,267,252 (GRCm39) |
I210L |
probably benign |
Het |
| Plekha5 |
T |
C |
6: 140,474,323 (GRCm39) |
F84L |
probably damaging |
Het |
| Plxnb2 |
A |
G |
15: 89,049,534 (GRCm39) |
S562P |
probably benign |
Het |
| Rfx8 |
C |
T |
1: 39,724,696 (GRCm39) |
V222M |
possibly damaging |
Het |
| Rpap3 |
A |
G |
15: 97,578,417 (GRCm39) |
|
probably benign |
Het |
| Rpl6 |
T |
G |
5: 121,343,902 (GRCm39) |
V115G |
possibly damaging |
Het |
| Sec16a |
A |
T |
2: 26,315,772 (GRCm39) |
|
probably null |
Het |
| Sema3d |
T |
C |
5: 12,613,314 (GRCm39) |
Y464H |
probably damaging |
Het |
| Sgo2a |
T |
A |
1: 58,054,714 (GRCm39) |
N299K |
probably benign |
Het |
| Tecrl |
T |
C |
5: 83,442,417 (GRCm39) |
|
probably benign |
Het |
| Thsd7a |
T |
C |
6: 12,320,969 (GRCm39) |
T1569A |
probably damaging |
Het |
| U2surp |
T |
C |
9: 95,382,737 (GRCm39) |
|
probably null |
Het |
| Unc45a |
T |
C |
7: 79,979,291 (GRCm39) |
D567G |
probably damaging |
Het |
| Zfp532 |
A |
G |
18: 65,757,855 (GRCm39) |
Y596C |
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 |
|
IGL01374:Aldh3a2
|
APN |
11 |
61,139,828 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
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 |
2013-01-20 |
Incidental Mutation