Incidental Mutation 'IGL01095:Aldh8a1'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aldh8a1
Ensembl Gene ENSMUSG00000037542
Gene Namealdehyde dehydrogenase 8 family, member A1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.071) question?
Stock #IGL01095
Quality Score
Chromosomal Location21377291-21396585 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 21389281 bp
Amino Acid Change Glutamic Acid to Glycine at position 269 (E269G)
Ref Sequence ENSEMBL: ENSMUSP00000038878 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042699]
Predicted Effect probably benign
Transcript: ENSMUST00000042699
AA Change: E269G

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000038878
Gene: ENSMUSG00000037542
AA Change: E269G

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

Pfam:Aldedh 16 205 1.3e-54 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161285
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgra1 A G 7: 139,845,654 T28A possibly damaging Het
Alkbh7 A G 17: 56,997,470 probably null Het
Ap1g2 T C 14: 55,105,114 T129A probably benign Het
Ap1s1 A G 5: 137,041,809 I117T probably damaging Het
Brca1 G A 11: 101,524,369 P119S possibly damaging Het
Chid1 A G 7: 141,530,229 V62A probably damaging Het
Cpa1 A T 6: 30,642,969 I299F probably benign Het
Cuzd1 A G 7: 131,316,136 V245A probably damaging Het
Ddx39b T C 17: 35,246,961 S71P probably benign Het
Ddx42 A G 11: 106,247,499 Y708C probably damaging Het
Dnah3 C A 7: 119,951,597 L3166F probably benign Het
Erap1 A G 13: 74,668,094 E114G probably benign Het
Fap G A 2: 62,524,201 T448I possibly damaging Het
Fhl2 A T 1: 43,131,681 Y158N probably benign Het
Fscb A G 12: 64,473,381 V437A possibly damaging Het
Gm5346 T A 8: 43,626,096 I364L probably benign Het
Il18 A T 9: 50,579,329 D88V probably damaging Het
Il5ra A T 6: 106,742,644 probably benign Het
Jakmip3 A T 7: 139,020,817 Q302L probably damaging Het
Lrp2 A T 2: 69,492,432 Y1857* probably null Het
Meis2 T C 2: 115,864,424 T406A probably benign Het
Mre11a T A 9: 14,809,824 S346R probably benign Het
Myh15 A T 16: 49,132,015 K816M probably damaging Het
Mysm1 C T 4: 94,967,869 probably null Het
Nyap1 C A 5: 137,738,084 R47L probably damaging Het
Oas3 A G 5: 120,772,889 Y209H probably damaging Het
Olfr1279 A G 2: 111,306,621 R139G probably benign Het
Olfr1396 T G 11: 49,112,853 Y291S probably damaging Het
Olfr799 A G 10: 129,647,629 D167G probably benign Het
Olfr901 A G 9: 38,430,515 I78V probably benign Het
Olfr974 T C 9: 39,942,680 V140A probably benign Het
Pde4b T C 4: 102,506,044 probably null Het
Psd3 G A 8: 67,908,513 T99M probably damaging Het
R3hcc1 T C 14: 69,700,028 E390G probably damaging Het
Rabgap1l A C 1: 160,738,969 C58W probably benign Het
Rasd1 A G 11: 59,964,291 I121T probably damaging Het
Spta1 A G 1: 174,213,485 N1284D probably benign Het
Tpr T C 1: 150,410,140 V525A possibly damaging Het
Other mutations in Aldh8a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00807:Aldh8a1 APN 10 21395430 missense probably damaging 0.98
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 On2013-06-21