Incidental Mutation 'IGL03153:Aldh3a2'
ID 411162
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 # IGL03153
Quality Score
Status
Chromosome 11
Chromosomal Location 61114240-61158267 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 61149665 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 234 (Y234H)
Ref Sequence ENSEMBL: ENSMUSP00000104355 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066277] [ENSMUST00000074127] [ENSMUST00000108715]
AlphaFold P47740
Predicted Effect probably damaging
Transcript: ENSMUST00000066277
AA Change: Y234H

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000067767
Gene: ENSMUSG00000010025
AA Change: Y234H

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 damaging
Transcript: ENSMUST00000074127
AA Change: Y234H

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000073764
Gene: ENSMUSG00000010025
AA Change: Y234H

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 damaging
Transcript: ENSMUST00000108715
AA Change: Y234H

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000104355
Gene: ENSMUSG00000010025
AA Change: Y234H

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
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933430I17Rik A G 4: 62,465,563 (GRCm39) E419G possibly damaging Het
Abcg3 A G 5: 105,122,631 (GRCm39) probably benign Het
Adam17 T C 12: 21,395,698 (GRCm39) D256G probably damaging Het
Adgrb3 G A 1: 25,570,978 (GRCm39) R500* probably null Het
Alpk3 A G 7: 80,743,143 (GRCm39) T987A probably benign Het
Amtn A G 5: 88,532,828 (GRCm39) K148E possibly damaging Het
Asap1 G A 15: 64,032,123 (GRCm39) T237M probably damaging Het
Ccdc124 A T 8: 71,321,573 (GRCm39) probably null Het
Cdon T C 9: 35,389,255 (GRCm39) Y787H probably damaging Het
Cimip4 T C 15: 78,269,516 (GRCm39) D188G probably damaging Het
Coro7 A G 16: 4,453,246 (GRCm39) probably null Het
Dram2 T A 3: 106,462,490 (GRCm39) probably benign Het
Drd5 T C 5: 38,477,124 (GRCm39) V39A probably benign Het
Ern1 A G 11: 106,300,924 (GRCm39) L490P possibly damaging Het
Fat1 A G 8: 45,483,160 (GRCm39) T3083A possibly damaging Het
Irgm1 A G 11: 48,757,094 (GRCm39) I239T probably damaging Het
Klhl10 A T 11: 100,347,758 (GRCm39) T605S probably benign Het
Lcor T A 19: 41,546,795 (GRCm39) S126R probably damaging Het
Lgi4 G T 7: 30,759,983 (GRCm39) V60F probably damaging Het
Lin37 G A 7: 30,256,585 (GRCm39) R84W probably damaging Het
Lmf1 A G 17: 25,804,624 (GRCm39) S97G possibly damaging Het
Oasl2 A G 5: 115,039,393 (GRCm39) T194A probably benign Het
Or5ac17 A G 16: 59,036,566 (GRCm39) S137P probably benign Het
Pnpo A T 11: 96,834,661 (GRCm39) F12I probably damaging Het
Prdm4 T C 10: 85,743,860 (GRCm39) T132A probably benign Het
Ptbp2 T C 3: 119,545,593 (GRCm39) T118A probably benign Het
Ptf1a T A 2: 19,451,456 (GRCm39) probably benign Het
Rev3l T A 10: 39,682,874 (GRCm39) F331I probably damaging Het
Rfx6 C A 10: 51,599,217 (GRCm39) S524* probably null Het
Scube3 A G 17: 28,386,032 (GRCm39) S758G possibly damaging Het
Slc44a2 T C 9: 21,254,496 (GRCm39) I257T probably benign Het
Spon1 A T 7: 113,629,579 (GRCm39) I408F probably damaging Het
Srpk1 C A 17: 28,811,240 (GRCm39) D541Y possibly damaging Het
Tenm4 A T 7: 96,522,969 (GRCm39) I1467F probably damaging Het
Uggt1 A C 1: 36,241,899 (GRCm39) V345G possibly damaging Het
Vmn1r23 A T 6: 57,902,917 (GRCm39) I287K probably damaging Het
Whamm A G 7: 81,239,280 (GRCm39) probably benign Het
Zeb1 A G 18: 5,770,511 (GRCm39) D888G probably damaging Het
Zfp263 A G 16: 3,564,744 (GRCm39) N253S possibly damaging Het
Zfp446 C A 7: 12,711,834 (GRCm39) A19E 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
IGL01514:Aldh3a2 APN 11 61,144,624 (GRCm39) unclassified probably benign
IGL01633:Aldh3a2 APN 11 61,139,731 (GRCm39) missense probably benign 0.38
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 2016-08-02