Incidental Mutation 'IGL01633:Aldh3a2'
| ID |
93642 |
| 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 # |
IGL01633
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
61114240-61158267 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 61139731 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 467
(L467P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104355
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066277]
[ENSMUST00000074127]
[ENSMUST00000108715]
|
| AlphaFold |
P47740 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066277
AA Change: L467P
PolyPhen 2
Score 0.345 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000067767
Gene: ENSMUSG00000010025
AA Change: L467P
| 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: L467P
PolyPhen 2
Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000073764
Gene: ENSMUSG00000010025
AA Change: L467P
| 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: L467P
PolyPhen 2
Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000104355
Gene: ENSMUSG00000010025
AA Change: L467P
| 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: L87P
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
T |
A |
2: 25,334,406 (GRCm39) |
S1868T |
possibly damaging |
Het |
| Abca3 |
G |
A |
17: 24,616,327 (GRCm39) |
W923* |
probably null |
Het |
| Abca8b |
A |
G |
11: 109,827,580 (GRCm39) |
M1476T |
probably damaging |
Het |
| Abi3bp |
T |
C |
16: 56,498,163 (GRCm39) |
F729S |
probably damaging |
Het |
| Acacb |
T |
C |
5: 114,356,919 (GRCm39) |
|
probably benign |
Het |
| Appl1 |
T |
C |
14: 26,684,795 (GRCm39) |
T85A |
probably damaging |
Het |
| Aspm |
T |
A |
1: 139,408,574 (GRCm39) |
I2487N |
possibly damaging |
Het |
| Bcl2a1c |
G |
A |
9: 114,159,290 (GRCm39) |
V23I |
probably benign |
Het |
| C2cd2 |
T |
A |
16: 97,676,323 (GRCm39) |
|
probably benign |
Het |
| Carmil3 |
A |
T |
14: 55,731,684 (GRCm39) |
H170L |
possibly damaging |
Het |
| Ccdc141 |
C |
T |
2: 76,919,593 (GRCm39) |
V305I |
probably benign |
Het |
| Ccdc174 |
G |
A |
6: 91,857,343 (GRCm39) |
|
probably null |
Het |
| Cep126 |
T |
G |
9: 8,103,320 (GRCm39) |
Q230P |
possibly damaging |
Het |
| Chrm1 |
T |
C |
19: 8,655,859 (GRCm39) |
I188T |
probably benign |
Het |
| Depdc5 |
T |
C |
5: 33,081,544 (GRCm39) |
S569P |
probably damaging |
Het |
| Drc1 |
G |
A |
5: 30,503,007 (GRCm39) |
E177K |
probably damaging |
Het |
| Duox1 |
A |
G |
2: 122,164,279 (GRCm39) |
E913G |
probably benign |
Het |
| Fbxw9 |
T |
C |
8: 85,791,055 (GRCm39) |
S241P |
probably damaging |
Het |
| Fez2 |
C |
A |
17: 78,712,147 (GRCm39) |
|
probably benign |
Het |
| Fga |
G |
T |
3: 82,937,606 (GRCm39) |
R161L |
possibly damaging |
Het |
| Fn3krp |
G |
T |
11: 121,320,533 (GRCm39) |
G293* |
probably null |
Het |
| Gfra1 |
C |
T |
19: 58,255,479 (GRCm39) |
E318K |
probably benign |
Het |
| Gli3 |
C |
T |
13: 15,823,219 (GRCm39) |
P314S |
probably damaging |
Het |
| Gm5114 |
A |
T |
7: 39,057,490 (GRCm39) |
S710T |
probably benign |
Het |
| Gpr141 |
T |
C |
13: 19,936,769 (GRCm39) |
D2G |
probably benign |
Het |
| Inppl1 |
G |
A |
7: 101,483,041 (GRCm39) |
Q63* |
probably null |
Het |
| Lrrc73 |
T |
A |
17: 46,566,657 (GRCm39) |
V169E |
possibly damaging |
Het |
| Lsm11 |
C |
T |
11: 45,824,615 (GRCm39) |
R304Q |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,395,964 (GRCm39) |
D788G |
probably damaging |
Het |
| Nbas |
T |
A |
12: 13,533,898 (GRCm39) |
D1844E |
probably damaging |
Het |
| Nt5c |
A |
G |
11: 115,382,161 (GRCm39) |
F73L |
probably damaging |
Het |
| Osmr |
A |
T |
15: 6,854,085 (GRCm39) |
I541N |
probably damaging |
Het |
| Phrf1 |
A |
G |
7: 140,840,413 (GRCm39) |
I1203V |
probably benign |
Het |
| Pram1 |
C |
A |
17: 33,861,109 (GRCm39) |
P510Q |
possibly damaging |
Het |
| Prepl |
A |
G |
17: 85,379,444 (GRCm39) |
Y415H |
probably benign |
Het |
| Prss27 |
A |
T |
17: 24,264,650 (GRCm39) |
H271L |
probably damaging |
Het |
| Ptpn18 |
A |
G |
1: 34,510,989 (GRCm39) |
S287G |
probably benign |
Het |
| Ptprq |
T |
C |
10: 107,535,584 (GRCm39) |
|
probably benign |
Het |
| Sars2 |
A |
G |
7: 28,446,974 (GRCm39) |
K218E |
probably benign |
Het |
| Senp6 |
G |
T |
9: 79,999,676 (GRCm39) |
S31I |
probably damaging |
Het |
| Shld2 |
G |
T |
14: 33,971,136 (GRCm39) |
T31K |
probably damaging |
Het |
| Skint6 |
C |
A |
4: 113,095,246 (GRCm39) |
V138F |
probably damaging |
Het |
| Slc4a8 |
C |
A |
15: 100,685,128 (GRCm39) |
H168N |
probably damaging |
Het |
| Tbx15 |
T |
G |
3: 99,220,358 (GRCm39) |
I150S |
probably damaging |
Het |
| Tbxas1 |
A |
G |
6: 38,959,125 (GRCm39) |
N103D |
probably benign |
Het |
| Tmc5 |
A |
G |
7: 118,222,809 (GRCm39) |
N170D |
probably damaging |
Het |
| Tmem108 |
A |
T |
9: 103,361,950 (GRCm39) |
N545K |
probably benign |
Het |
| Trub1 |
A |
G |
19: 57,441,616 (GRCm39) |
K80E |
possibly damaging |
Het |
| Tulp3 |
A |
T |
6: 128,302,923 (GRCm39) |
Y299N |
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 |
|
|
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 |
2013-12-09 |
Incidental Mutation