Incidental Mutation 'IGL01514:Aldh3a2'
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ID89333
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aldh3a2
Ensembl Gene ENSMUSG00000010025
Gene Namealdehyde dehydrogenase family 3, subfamily A2
SynonymsAhd3-r, FALDH, Ahd-3r, Aldh4, Aldh4-r, Ahd-3, Ahd3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.135) question?
Stock #IGL01514
Quality Score
Status
Chromosome11
Chromosomal Location61223417-61267464 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) C to T at 61253798 bp
ZygosityHeterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000066277] [ENSMUST00000074127] [ENSMUST00000108715]
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: 93,839,242 probably benign Het
Actl7b T C 4: 56,740,677 Y227C probably damaging Het
Adam26a A T 8: 43,568,448 H668Q probably benign Het
Alcam A T 16: 52,274,290 probably benign Het
Atp11b G T 3: 35,836,981 G801V probably damaging Het
C3 G A 17: 57,215,866 T1006I probably benign Het
Cacna2d4 T C 6: 119,282,173 probably benign Het
Cldn34b3 A T X: 76,267,074 I83F probably damaging Het
Clec2g G A 6: 128,948,773 M48I probably benign Het
Coch A G 12: 51,603,353 D375G probably damaging Het
Erbb2 C T 11: 98,432,919 T653I possibly damaging Het
Etv3 A G 3: 87,535,718 H203R possibly damaging Het
Fat4 A G 3: 38,949,534 R1801G possibly damaging Het
Gars T A 6: 55,065,520 S413T probably benign Het
Gnat1 G A 9: 107,676,301 R253C possibly damaging Het
Hook3 A T 8: 26,088,189 L91I possibly damaging Het
Lrp8 T C 4: 107,855,684 Y377H probably damaging Het
Lztr1 G A 16: 17,522,391 probably null Het
Malt1 A G 18: 65,476,400 D825G possibly damaging Het
Nlrp9b T C 7: 20,045,934 probably null Het
Olfr1396 A T 11: 49,113,576 I50N probably damaging Het
Olfr54 C T 11: 51,027,589 R196* probably null Het
Orc1 A G 4: 108,602,052 R473G probably damaging Het
Pard6g G A 18: 80,117,446 R258H probably damaging Het
Pkdrej T C 15: 85,818,063 D1224G possibly damaging Het
Polr1e A G 4: 45,018,723 T18A probably benign Het
Pycrl T C 15: 75,917,004 T240A probably damaging Het
Ralgapa1 C A 12: 55,719,657 G1284V probably damaging Het
Rcl1 T C 19: 29,143,298 probably benign Het
Sec24c C T 14: 20,682,771 T134I possibly damaging Het
Sis A G 3: 72,935,920 probably benign Het
Susd5 A C 9: 114,068,879 probably benign Het
Tlk1 T C 2: 70,752,266 N173S probably benign Het
Uroc1 T C 6: 90,363,100 probably benign Het
Other mutations in Aldh3a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00941:Aldh3a2 APN 11 61262256 missense probably damaging 1.00
IGL01374:Aldh3a2 APN 11 61249002 missense probably benign 0.01
IGL01633:Aldh3a2 APN 11 61248905 missense probably benign 0.38
IGL03153:Aldh3a2 APN 11 61258839 missense probably damaging 0.99
R0095:Aldh3a2 UTSW 11 61250948 missense probably damaging 1.00
R0126:Aldh3a2 UTSW 11 61224558 missense probably benign 0.04
R0164:Aldh3a2 UTSW 11 61248888 missense probably benign 0.23
R0164:Aldh3a2 UTSW 11 61248888 missense probably benign 0.23
R0646:Aldh3a2 UTSW 11 61253715 missense probably damaging 0.97
R0699:Aldh3a2 UTSW 11 61262322 missense probably benign 0.01
R1398:Aldh3a2 UTSW 11 61256736 splice site probably null
R1443:Aldh3a2 UTSW 11 61264307 missense probably damaging 1.00
R1454:Aldh3a2 UTSW 11 61265102 missense probably benign 0.00
R1551:Aldh3a2 UTSW 11 61253644 missense probably benign 0.01
R1557:Aldh3a2 UTSW 11 61249059 missense probably damaging 1.00
R1701:Aldh3a2 UTSW 11 61256772 missense probably damaging 1.00
R3808:Aldh3a2 UTSW 11 61258797 missense probably damaging 1.00
R4871:Aldh3a2 UTSW 11 61262239 nonsense probably null
R5304:Aldh3a2 UTSW 11 61253712 missense probably damaging 0.99
R6318:Aldh3a2 UTSW 11 61262419 nonsense probably null
R6759:Aldh3a2 UTSW 11 61265262 missense probably benign 0.00
R6768:Aldh3a2 UTSW 11 61253710 missense probably benign 0.01
Z1176:Aldh3a2 UTSW 11 61264283 missense probably benign 0.00
Posted On2013-12-03