Incidental Mutation 'IGL02206:Aldh8a1'
ID284480
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: 0.080) question?
Stock #IGL02206
Quality Score
Status
Chromosome10
Chromosomal Location21377291-21396585 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 21395575 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 400 (V400A)
Ref Sequence ENSEMBL: ENSMUSP00000038878 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042699]
Predicted Effect probably benign
Transcript: ENSMUST00000042699
AA Change: V400A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000038878
Gene: ENSMUSG00000037542
AA Change: V400A

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca A T 11: 84,260,747 K824* probably null Het
Acot12 A G 13: 91,759,987 D96G probably damaging Het
Acvr2b C T 9: 119,427,998 Q98* probably null Het
Aox1 C A 1: 58,065,340 H559N probably benign Het
Arhgef18 T A 8: 3,445,034 I431N probably benign Het
Atad5 A G 11: 80,094,183 D32G probably damaging Het
Cmtm8 T C 9: 114,843,899 H10R probably benign Het
Cnn1 T G 9: 22,104,378 probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Defb23 C A 2: 152,464,535 E20* probably null Het
Dennd2a A T 6: 39,523,449 S61T probably damaging Het
Fam13a A T 6: 58,987,219 I76K probably benign Het
Fgd5 A G 6: 91,987,258 probably benign Het
Flt4 A T 11: 49,630,390 R409W probably damaging Het
Gm11397 A G 13: 33,404,199 T256A probably damaging Het
Gramd1b T C 9: 40,300,032 T652A probably benign Het
Grik1 C T 16: 87,935,920 G703D probably damaging Het
Impg2 A G 16: 56,259,597 E479G possibly damaging Het
Itpr1 A G 6: 108,549,820 N2743S probably damaging Het
Klc1 A G 12: 111,778,116 probably benign Het
Mb21d1 T C 9: 78,443,080 probably null Het
Ndufa9 G A 6: 126,844,403 R75* probably null Het
Neurl4 A G 11: 69,910,340 N1181S probably damaging Het
Olfr1431 T C 19: 12,210,460 I298T probably damaging Het
Phf1 A G 17: 26,936,869 probably benign Het
Pkhd1l1 T C 15: 44,512,849 I969T probably benign Het
Pprc1 G A 19: 46,071,751 R1538Q probably damaging Het
Rasd1 C T 11: 59,963,952 G234D possibly damaging Het
Rnf152 T C 1: 105,284,824 T3A probably benign Het
Rrh C T 3: 129,811,697 V115I probably benign Het
Rundc3a G T 11: 102,399,634 E217* probably null Het
Sae1 A T 7: 16,330,656 V306E possibly damaging Het
Serpinb7 T C 1: 107,435,372 S89P possibly damaging Het
Sgo2b T A 8: 63,941,084 T74S possibly damaging Het
Slc5a7 T C 17: 54,296,994 D48G probably damaging Het
Stn1 T C 19: 47,516,173 M177V possibly damaging Het
Tgm1 T C 14: 55,704,935 E653G possibly damaging Het
Thsd4 T C 9: 60,394,115 K299R probably benign Het
Ttc22 A G 4: 106,635,989 T278A probably damaging Het
Ubl4b G T 3: 107,554,825 Q40K possibly damaging Het
Zfp677 A G 17: 21,393,237 D31G probably 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
IGL01525:Aldh8a1 APN 10 21391573 missense probably damaging 0.98
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
R7574:Aldh8a1 UTSW 10 21380830 missense possibly damaging 0.78
R8014:Aldh8a1 UTSW 10 21389302 missense probably benign 0.03
X0011:Aldh8a1 UTSW 10 21389239 missense probably damaging 1.00
Posted On2015-04-16