Incidental Mutation 'IGL01525:Aldh8a1'
ID89534
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 #IGL01525
Quality Score
Status
Chromosome10
Chromosomal Location21377291-21396585 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 21391573 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 286 (I286F)
Ref Sequence ENSEMBL: ENSMUSP00000038878 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042699]
Predicted Effect probably damaging
Transcript: ENSMUST00000042699
AA Change: I286F

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000038878
Gene: ENSMUSG00000037542
AA Change: I286F

DomainStartEndE-ValueType
Pfam:Aldedh 19 483 8.6e-170 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159163
SMART Domains Protein: ENSMUSP00000124448
Gene: ENSMUSG00000037542

DomainStartEndE-ValueType
Pfam:Aldedh 16 205 1.3e-54 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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb1 A G 15: 74,586,835 E322G probably damaging Het
Arnt2 T A 7: 84,275,408 T404S possibly damaging Het
Asb1 A G 1: 91,552,124 T190A probably damaging Het
Atp8b1 G A 18: 64,539,252 R1014* probably null Het
Dgcr8 T C 16: 18,283,944 D158G probably damaging Het
Dock5 A G 14: 67,805,720 probably benign Het
Fras1 C T 5: 96,739,336 T2659I probably damaging Het
Galt A G 4: 41,756,068 T45A probably benign Het
Gtpbp3 A G 8: 71,490,434 D164G probably damaging Het
Kmt2c T A 5: 25,329,441 probably benign Het
Lrrc59 A T 11: 94,634,696 Q106L probably damaging Het
Mgat4c A G 10: 102,378,196 I13M probably damaging Het
Muc19 T A 15: 91,886,683 noncoding transcript Het
Myo5b C T 18: 74,740,549 A1508V probably damaging Het
Olfr1167 T C 2: 88,149,877 I47M probably benign Het
Olfr1394 A G 11: 49,160,674 Y220C probably damaging Het
Olfr600 T A 7: 103,346,179 I250F probably benign Het
Plxna2 A G 1: 194,712,311 E500G probably benign Het
Psme4 T A 11: 30,809,936 probably benign Het
S100a8 A T 3: 90,669,569 S10C probably damaging Het
Sdk1 T C 5: 141,999,920 V769A probably damaging Het
Sorbs1 G T 19: 40,349,978 T326K probably damaging Het
Spata31d1b T C 13: 59,712,466 I51T probably benign Het
Thumpd3 T C 6: 113,047,636 S64P probably damaging Het
Ticrr T C 7: 79,682,449 L843P probably damaging Het
Ttc30b A T 2: 75,936,882 M509K probably damaging Het
Ttn A T 2: 76,810,764 I13587N probably damaging Het
Txndc2 A G 17: 65,638,913 S90P possibly damaging Het
Other mutations in Aldh8a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00807:Aldh8a1 APN 10 21395430 missense probably damaging 0.98
IGL01095:Aldh8a1 APN 10 21389281 missense probably benign 0.18
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 On2013-12-03