Incidental Mutation 'IGL02232:Aldh8a1'
ID 285765
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aldh8a1
Ensembl Gene ENSMUSG00000037542
Gene Name aldehyde dehydrogenase 8 family, member A1
Synonyms RALDH4
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # IGL02232
Quality Score
Chromosome 10
Chromosomal Location 21253199-21272477 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 21271545 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 424 (W424R)
Ref Sequence ENSEMBL: ENSMUSP00000038878 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042699]
AlphaFold Q8BH00
Predicted Effect probably damaging
Transcript: ENSMUST00000042699
AA Change: W424R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000038878
Gene: ENSMUSG00000037542
AA Change: W424R

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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810030O07Rik A G X: 12,530,764 (GRCm39) V199A possibly damaging Het
Aco1 T C 4: 40,175,996 (GRCm39) M210T probably damaging Het
Actr10 G A 12: 70,990,289 (GRCm39) E114K probably benign Het
Adam6b T C 12: 113,454,764 (GRCm39) M527T probably benign Het
Ahi1 C T 10: 20,857,274 (GRCm39) T623M probably damaging Het
Apeh A T 9: 107,969,071 (GRCm39) S299T probably benign Het
Bbs5 A C 2: 69,485,895 (GRCm39) I147L probably benign Het
Bmp2k T G 5: 97,179,109 (GRCm39) probably benign Het
C2cd6 A G 1: 59,101,651 (GRCm39) F336S probably damaging Het
Cd274 T A 19: 29,359,938 (GRCm39) L248M probably damaging Het
Chsy3 T A 18: 59,542,383 (GRCm39) M507K possibly damaging Het
Clip2 T C 5: 134,531,984 (GRCm39) N572S probably damaging Het
Commd9 A G 2: 101,731,324 (GRCm39) T170A probably benign Het
Cpt1c G A 7: 44,609,580 (GRCm39) S674L probably damaging Het
Dhx33 C A 11: 70,878,030 (GRCm39) R671L probably damaging Het
Dnah5 G A 15: 28,299,386 (GRCm39) E1583K probably damaging Het
Eed G T 7: 89,621,493 (GRCm39) N51K probably damaging Het
Efcab14 A G 4: 115,617,261 (GRCm39) probably benign Het
Ephb2 A C 4: 136,384,762 (GRCm39) M884R probably damaging Het
Foxn2 G T 17: 88,770,479 (GRCm39) A109S probably benign Het
Fut1 A T 7: 45,268,871 (GRCm39) D220V probably damaging Het
Gm6468 C T 5: 95,429,066 (GRCm39) noncoding transcript Het
Gm7964 A T 7: 83,405,515 (GRCm39) noncoding transcript Het
Gm9772 C T 17: 22,226,031 (GRCm39) probably benign Het
Golph3 G T 15: 12,349,578 (GRCm39) M199I probably benign Het
Itpr1 A G 6: 108,394,884 (GRCm39) N1666D probably damaging Het
Itprid1 A G 6: 55,944,922 (GRCm39) T548A unknown Het
Kif12 C T 4: 63,084,732 (GRCm39) E529K probably benign Het
Lpp C T 16: 24,580,895 (GRCm39) R204W probably damaging Het
Lrrc52 T A 1: 167,293,949 (GRCm39) N112I probably damaging Het
Msi1 T A 5: 115,579,506 (GRCm39) probably null Het
Nasp T G 4: 116,461,997 (GRCm39) E170A probably damaging Het
Necab2 T A 8: 120,189,391 (GRCm39) V187E probably damaging Het
Obscn T C 11: 58,929,804 (GRCm39) E5790G probably damaging Het
Or7e176 A T 9: 20,171,511 (GRCm39) D125V probably damaging Het
Or9a7 A G 6: 40,520,980 (GRCm39) L311P probably damaging Het
Pard3b C T 1: 62,205,541 (GRCm39) T445I probably damaging Het
Pcdh10 A G 3: 45,335,377 (GRCm39) I564V probably benign Het
Pcdhb22 T A 18: 37,653,602 (GRCm39) L690Q probably damaging Het
Pemt T A 11: 59,867,680 (GRCm39) T115S probably damaging Het
Plcl2 A G 17: 50,913,669 (GRCm39) N226S possibly damaging Het
Ppp6r1 A G 7: 4,636,341 (GRCm39) S750P probably damaging Het
Prtg T C 9: 72,758,771 (GRCm39) V375A probably damaging Het
Psd3 A C 8: 68,356,797 (GRCm39) M673R probably damaging Het
Ptprt T C 2: 161,372,437 (GRCm39) I1392V probably damaging Het
Rlf G A 4: 121,039,811 (GRCm39) T200I probably benign Het
Robo1 G A 16: 72,768,872 (GRCm39) G479D possibly damaging Het
Rpe65 A G 3: 159,309,988 (GRCm39) D87G possibly damaging Het
Sema3g T C 14: 30,943,181 (GRCm39) V148A probably damaging Het
Sgms2 G A 3: 131,116,833 (GRCm39) P341S probably benign Het
Skint7 A T 4: 111,839,225 (GRCm39) Q173L possibly damaging Het
Slc2a9 G A 5: 38,594,013 (GRCm39) A150V probably benign Het
Slc35c2 A G 2: 165,124,801 (GRCm39) L58P probably damaging Het
Slc7a6 G A 8: 106,923,206 (GRCm39) C495Y possibly damaging Het
Smurf1 G A 5: 144,823,248 (GRCm39) P458L probably damaging Het
Spag1 C T 15: 36,221,710 (GRCm39) T601I probably benign Het
Spink8 A T 9: 109,649,665 (GRCm39) Q49L possibly damaging Het
Spout1 A T 2: 30,065,266 (GRCm39) Y284N probably damaging Het
Srrm1 A T 4: 135,080,427 (GRCm39) M1K probably null Het
Stxbp5l A G 16: 37,150,257 (GRCm39) L116P probably damaging Het
Tlr9 T C 9: 106,102,136 (GRCm39) F476L probably damaging Het
Tmem41b A G 7: 109,577,960 (GRCm39) V108A probably damaging Het
Tra2b A G 16: 22,067,790 (GRCm39) probably benign Het
Trio G T 15: 27,902,647 (GRCm39) H271Q probably benign Het
Ttn A G 2: 76,723,263 (GRCm39) probably benign Het
Usp51 A T X: 151,791,669 (GRCm39) H421L probably damaging Het
Vmn2r29 A T 7: 7,244,810 (GRCm39) W355R probably damaging Het
Vpreb1a T C 16: 16,686,603 (GRCm39) N96D possibly damaging Het
Zfp318 C T 17: 46,707,736 (GRCm39) R265* probably null Het
Zp3r C A 1: 130,524,404 (GRCm39) C213F probably damaging Het
Other mutations in Aldh8a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00807:Aldh8a1 APN 10 21,271,329 (GRCm39) missense probably damaging 0.98
IGL01095:Aldh8a1 APN 10 21,265,180 (GRCm39) missense probably benign 0.18
IGL01525:Aldh8a1 APN 10 21,267,472 (GRCm39) missense probably damaging 0.98
IGL02206:Aldh8a1 APN 10 21,271,474 (GRCm39) missense probably benign 0.00
IGL03213:Aldh8a1 APN 10 21,260,616 (GRCm39) missense probably damaging 0.97
R0105:Aldh8a1 UTSW 10 21,271,438 (GRCm39) missense probably damaging 0.99
R0105:Aldh8a1 UTSW 10 21,271,438 (GRCm39) missense probably damaging 0.99
R0893:Aldh8a1 UTSW 10 21,267,593 (GRCm39) missense probably benign 0.19
R1168:Aldh8a1 UTSW 10 21,260,530 (GRCm39) splice site probably null
R1764:Aldh8a1 UTSW 10 21,271,392 (GRCm39) missense probably benign 0.01
R4016:Aldh8a1 UTSW 10 21,271,470 (GRCm39) missense probably benign 0.00
R4464:Aldh8a1 UTSW 10 21,264,840 (GRCm39) intron probably benign
R4915:Aldh8a1 UTSW 10 21,271,662 (GRCm39) missense probably damaging 1.00
R5816:Aldh8a1 UTSW 10 21,271,329 (GRCm39) missense probably damaging 0.98
R6032:Aldh8a1 UTSW 10 21,264,970 (GRCm39) missense probably benign 0.29
R6032:Aldh8a1 UTSW 10 21,264,970 (GRCm39) missense probably benign 0.29
R6581:Aldh8a1 UTSW 10 21,256,741 (GRCm39) missense probably damaging 1.00
R7422:Aldh8a1 UTSW 10 21,264,996 (GRCm39) missense possibly damaging 0.74
R7458:Aldh8a1 UTSW 10 21,271,492 (GRCm39) missense possibly damaging 0.95
R7574:Aldh8a1 UTSW 10 21,256,729 (GRCm39) missense possibly damaging 0.78
R8014:Aldh8a1 UTSW 10 21,265,201 (GRCm39) missense probably benign 0.03
R8150:Aldh8a1 UTSW 10 21,271,444 (GRCm39) missense probably damaging 1.00
R8151:Aldh8a1 UTSW 10 21,271,465 (GRCm39) missense probably damaging 0.97
R8160:Aldh8a1 UTSW 10 21,271,690 (GRCm39) missense possibly damaging 0.89
R9058:Aldh8a1 UTSW 10 21,258,344 (GRCm39) missense possibly damaging 0.50
R9250:Aldh8a1 UTSW 10 21,258,259 (GRCm39) missense probably damaging 0.98
R9451:Aldh8a1 UTSW 10 21,265,032 (GRCm39) missense probably benign
R9578:Aldh8a1 UTSW 10 21,253,281 (GRCm39) missense probably damaging 1.00
X0011:Aldh8a1 UTSW 10 21,265,138 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16