Incidental Mutation 'IGL01514:Aldh3a2'
ID 89333
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) question?
Stock # IGL01514
Quality Score
Status
Chromosome 11
Chromosomal Location 61114240-61158267 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to T at 61144624 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000066277] [ENSMUST00000074127] [ENSMUST00000108715]
AlphaFold P47740
Predicted Effect probably benign
Transcript: ENSMUST00000066277
SMART Domains Protein: ENSMUSP00000067767
Gene: ENSMUSG00000010025

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000073764
Gene: ENSMUSG00000010025

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000104355
Gene: ENSMUSG00000010025

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000147291
Predicted Effect probably benign
Transcript: ENSMUST00000208086
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Accs A G 2: 93,669,587 (GRCm39) probably benign Het
Actl7b T C 4: 56,740,677 (GRCm39) Y227C probably damaging Het
Adam26a A T 8: 44,021,485 (GRCm39) H668Q probably benign Het
Alcam A T 16: 52,094,653 (GRCm39) probably benign Het
Atp11b G T 3: 35,891,130 (GRCm39) G801V probably damaging Het
C3 G A 17: 57,522,866 (GRCm39) T1006I probably benign Het
Cacna2d4 T C 6: 119,259,134 (GRCm39) probably benign Het
Cldn34b3 A T X: 75,310,680 (GRCm39) I83F probably damaging Het
Clec2g G A 6: 128,925,736 (GRCm39) M48I probably benign Het
Coch A G 12: 51,650,136 (GRCm39) D375G probably damaging Het
Erbb2 C T 11: 98,323,745 (GRCm39) T653I possibly damaging Het
Etv3 A G 3: 87,443,025 (GRCm39) H203R possibly damaging Het
Fat4 A G 3: 39,003,683 (GRCm39) R1801G possibly damaging Het
Gars1 T A 6: 55,042,505 (GRCm39) S413T probably benign Het
Gnat1 G A 9: 107,553,500 (GRCm39) R253C possibly damaging Het
Hook3 A T 8: 26,578,217 (GRCm39) L91I possibly damaging Het
Lrp8 T C 4: 107,712,881 (GRCm39) Y377H probably damaging Het
Lztr1 G A 16: 17,340,255 (GRCm39) probably null Het
Malt1 A G 18: 65,609,471 (GRCm39) D825G possibly damaging Het
Nlrp9b T C 7: 19,779,859 (GRCm39) probably null Het
Or1x2 C T 11: 50,918,416 (GRCm39) R196* probably null Het
Or2v2 A T 11: 49,004,403 (GRCm39) I50N probably damaging Het
Orc1 A G 4: 108,459,249 (GRCm39) R473G probably damaging Het
Pard6g G A 18: 80,160,661 (GRCm39) R258H probably damaging Het
Pkdrej T C 15: 85,702,264 (GRCm39) D1224G possibly damaging Het
Polr1e A G 4: 45,018,723 (GRCm39) T18A probably benign Het
Pycr3 T C 15: 75,788,853 (GRCm39) T240A probably damaging Het
Ralgapa1 C A 12: 55,766,442 (GRCm39) G1284V probably damaging Het
Rcl1 T C 19: 29,120,698 (GRCm39) probably benign Het
Sec24c C T 14: 20,732,839 (GRCm39) T134I possibly damaging Het
Sis A G 3: 72,843,253 (GRCm39) probably benign Het
Susd5 A C 9: 113,897,947 (GRCm39) probably benign Het
Tlk1 T C 2: 70,582,610 (GRCm39) N173S probably benign Het
Uroc1 T C 6: 90,340,082 (GRCm39) probably benign Het
Other mutations in Aldh3a2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 2013-12-03