Incidental Mutation 'R8150:Aldh8a1'
ID 632918
Institutional Source Beutler Lab
Gene Symbol Aldh8a1
Ensembl Gene ENSMUSG00000037542
Gene Name aldehyde dehydrogenase 8 family, member A1
Synonyms RALDH4
MMRRC Submission 067576-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R8150 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 21253199-21272477 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 21271444 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 390 (E390G)
Ref Sequence ENSEMBL: ENSMUSP00000038878 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042699]
AlphaFold Q8BH00
Predicted Effect probably damaging
Transcript: ENSMUST00000042699
AA Change: E390G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000038878
Gene: ENSMUSG00000037542
AA Change: E390G

DomainStartEndE-ValueType
Pfam:Aldedh 19 483 8.6e-170 PFAM
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.5%
  • 10x: 98.5%
  • 20x: 94.4%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921504E06Rik T A 2: 19,538,635 (GRCm39) M129L probably benign Het
Aadacl2fm1 A G 3: 59,843,558 (GRCm39) D84G probably damaging Het
Abca2 T C 2: 25,337,393 (GRCm39) I2416T probably damaging Het
Abca3 A G 17: 24,615,522 (GRCm39) D871G probably benign Het
Akap9 C T 5: 4,011,982 (GRCm39) T895I probably damaging Het
Ank2 T A 3: 126,741,162 (GRCm39) D1574V Het
Blmh T C 11: 76,859,455 (GRCm39) V352A probably benign Het
Cacna1i T C 15: 80,259,540 (GRCm39) L1270P probably damaging Het
Ccdc80 T A 16: 44,947,792 (GRCm39) H923Q probably damaging Het
Cdc27 G A 11: 104,406,286 (GRCm39) H610Y probably damaging Het
Cep126 T C 9: 8,101,791 (GRCm39) I248V probably benign Het
Ces5a T C 8: 94,257,430 (GRCm39) N125S probably damaging Het
Chd3 G A 11: 69,254,510 (GRCm39) H201Y probably benign Het
Cpeb1 T C 7: 81,007,152 (GRCm39) T292A probably damaging Het
Gli2 G A 1: 118,763,558 (GRCm39) T1531I probably damaging Het
Gm6871 T C 7: 41,197,185 (GRCm39) T7A Het
Kank1 A G 19: 25,388,163 (GRCm39) D612G possibly damaging Het
Lhcgr AT ATT 17: 89,049,677 (GRCm39) 615 probably null Het
Mfsd6 T A 1: 52,747,800 (GRCm39) D355V probably benign Het
Myo7a T C 7: 97,712,846 (GRCm39) K1710E probably benign Het
Or13d1 C G 4: 52,970,788 (GRCm39) H56D probably damaging Het
Or52ae7 A G 7: 103,119,459 (GRCm39) D71G probably damaging Het
Pcdha8 G A 18: 37,126,264 (GRCm39) V249M probably damaging Het
Pglyrp3 A G 3: 91,933,790 (GRCm39) D145G probably benign Het
Pkhd1l1 A G 15: 44,410,055 (GRCm39) K2521E possibly damaging Het
Pld3 A G 7: 27,232,086 (GRCm39) V398A probably damaging Het
Plxnb1 A T 9: 108,941,146 (GRCm39) T1642S probably damaging Het
Ppp2r1a T G 17: 21,179,700 (GRCm39) V348G possibly damaging Het
Prdm2 C A 4: 142,859,303 (GRCm39) C1329F possibly damaging Het
Ric8a G T 7: 140,441,269 (GRCm39) G423V probably damaging Het
Rnf17 A G 14: 56,658,593 (GRCm39) D94G probably benign Het
Serpina3f T C 12: 104,185,769 (GRCm39) F325L probably damaging Het
Sin3a T A 9: 57,034,568 (GRCm39) V1247E possibly damaging Het
Skint5 C A 4: 113,798,087 (GRCm39) M165I probably benign Het
Slc19a3 T G 1: 83,000,216 (GRCm39) Y267S probably damaging Het
Slc22a27 A T 19: 7,887,390 (GRCm39) F196Y possibly damaging Het
Slc5a4b A T 10: 75,939,680 (GRCm39) I152N possibly damaging Het
Tbc1d9 T A 8: 83,982,519 (GRCm39) V768E probably damaging Het
Tex15 T A 8: 34,063,534 (GRCm39) M988K probably benign Het
Top2b T A 14: 16,393,291 (GRCm38) F317I probably damaging Het
Wfdc8 A T 2: 164,439,455 (GRCm39) L309* probably null Het
Wipf1 G A 2: 73,267,879 (GRCm39) P173L possibly damaging Het
Zfp217 G A 2: 169,961,571 (GRCm39) S252F possibly damaging Het
Zfp949 C T 9: 88,452,053 (GRCm39) T541I probably benign Het
Zkscan16 T A 4: 58,952,407 (GRCm39) I235N probably benign 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
IGL02232:Aldh8a1 APN 10 21,271,545 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TGTGAAACACCCAACGGTAAG -3'
(R):5'- AGCTCTTCATCCCTCCAAAGG -3'

Sequencing Primer
(F):5'- ATAATTATGGTTTTCACTCCCCCAGG -3'
(R):5'- AGGTTCAGCTCCCTGATGAG -3'
Posted On 2020-06-30