Incidental Mutation 'IGL00807:Aldh8a1'
ID8775
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aldh8a1
Ensembl Gene ENSMUSG00000037542
Gene Namealdehyde dehydrogenase 8 family, member A1
SynonymsRALDH4
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.097) question?
Stock #IGL00807
Quality Score
Status
Chromosome10
Chromosomal Location21377291-21396585 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 21395430 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 352 (I352F)
Ref Sequence ENSEMBL: ENSMUSP00000038878 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042699]
Predicted Effect probably damaging
Transcript: ENSMUST00000042699
AA Change: I352F

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000038878
Gene: ENSMUSG00000037542
AA Change: I352F

DomainStartEndE-ValueType
Pfam:Aldedh 19 483 8.6e-170 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This protein belongs to the aldehyde dehydrogenases family of proteins. It plays a role in a pathway of 9-cis-retinoic acid biosynthesis in vivo. This enzyme converts 9-cis-retinal into the retinoid X receptor ligand 9-cis-retinoic acid, and has approximately 40-fold higher activity with 9-cis-retinal than with all-trans-retinal. Therefore, it is the first known aldehyde dehydrogenase to show a preference for 9-cis-retinal relative to all-trans-retinal. Three transcript variants encoding distinct protein isoforms have been identified for this gene. [provided by RefSeq, Jul 2010]
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,378,285 T3453S probably benign Het
Ahnak T A 19: 9,008,522 V2390E possibly damaging Het
Ccnt2 T C 1: 127,797,891 probably benign Het
Ccr1l1 A T 9: 123,977,469 W314R probably benign Het
Cdc42bpa A G 1: 180,141,453 I1218V possibly damaging Het
Dlc1 G A 8: 36,572,848 T1386I probably benign Het
Frs2 A C 10: 117,074,886 probably benign Het
Gm4951 C T 18: 60,245,411 S6F probably damaging Het
Gria1 T C 11: 57,012,040 Y3H probably benign Het
Ints2 T C 11: 86,233,135 N609S probably damaging Het
Lyst T A 13: 13,650,423 M1541K possibly damaging Het
Mmachc A T 4: 116,705,921 V79E probably damaging Het
Nfe2l2 T C 2: 75,679,413 D21G probably damaging Het
Pde2a G A 7: 101,504,412 V436M probably damaging Het
Rhot1 C T 11: 80,226,102 H101Y probably benign Het
Sh2d4a T C 8: 68,329,366 probably null Het
Taar2 A G 10: 23,940,675 M38V probably benign Het
Tek A T 4: 94,798,719 N158I probably damaging Het
Znrd1as G T 17: 36,964,921 A132S probably damaging Het
Other mutations in Aldh8a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01095:Aldh8a1 APN 10 21389281 missense probably benign 0.18
IGL01525:Aldh8a1 APN 10 21391573 missense probably damaging 0.98
IGL02206:Aldh8a1 APN 10 21395575 missense probably benign 0.00
IGL02232:Aldh8a1 APN 10 21395646 missense probably damaging 1.00
IGL03213:Aldh8a1 APN 10 21384717 missense probably damaging 0.97
R0105:Aldh8a1 UTSW 10 21395539 missense probably damaging 0.99
R0105:Aldh8a1 UTSW 10 21395539 missense probably damaging 0.99
R0893:Aldh8a1 UTSW 10 21391694 missense probably benign 0.19
R1168:Aldh8a1 UTSW 10 21384631 splice site probably null
R1764:Aldh8a1 UTSW 10 21395493 missense probably benign 0.01
R4016:Aldh8a1 UTSW 10 21395571 missense probably benign 0.00
R4464:Aldh8a1 UTSW 10 21388941 intron probably benign
R4915:Aldh8a1 UTSW 10 21395763 missense probably damaging 1.00
R5816:Aldh8a1 UTSW 10 21395430 missense probably damaging 0.98
R6032:Aldh8a1 UTSW 10 21389071 missense probably benign 0.29
R6032:Aldh8a1 UTSW 10 21389071 missense probably benign 0.29
R6581:Aldh8a1 UTSW 10 21380842 missense probably damaging 1.00
R7422:Aldh8a1 UTSW 10 21389097 missense possibly damaging 0.74
R7458:Aldh8a1 UTSW 10 21395593 missense possibly damaging 0.95
X0011:Aldh8a1 UTSW 10 21389239 missense probably damaging 1.00
Posted On2012-12-06