Incidental Mutation 'R8160:Aldh8a1'
ID 633476
Institutional Source Beutler Lab
Gene Symbol Aldh8a1
Ensembl Gene ENSMUSG00000037542
Gene Name aldehyde dehydrogenase 8 family, member A1
Synonyms RALDH4
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R8160 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 21377291-21396585 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 21395791 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 472 (D472G)
Ref Sequence ENSEMBL: ENSMUSP00000038878 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042699]
AlphaFold Q8BH00
Predicted Effect possibly damaging
Transcript: ENSMUST00000042699
AA Change: D472G

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000038878
Gene: ENSMUSG00000037542
AA Change: D472G

DomainStartEndE-ValueType
Pfam:Aldedh 19 483 8.6e-170 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.7%
Validation Efficiency 100% (32/32)
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam12 C T 7: 133,968,041 probably null Het
Appl1 T C 14: 26,928,635 I527V probably benign Het
Arhgef4 C A 1: 34,723,574 T637K unknown Het
Atp7b G A 8: 21,997,559 A1273V probably damaging Het
Ccl20 T A 1: 83,117,822 S35T Het
Cdh24 C A 14: 54,638,489 V208F probably damaging Het
Dchs2 A T 3: 83,270,805 Q1055L probably benign Het
Dock8 G A 19: 25,147,347 R1009Q probably damaging Het
Ext2 A T 2: 93,813,762 V58E probably benign Het
Fam208a T A 14: 27,449,956 N420K probably damaging Het
Fam209 A T 2: 172,472,725 I45F possibly damaging Het
Hfm1 T C 5: 106,896,033 Y579C probably null Het
Hipk4 C T 7: 27,523,761 A82V possibly damaging Het
Il17rc A G 6: 113,476,528 Y223C possibly damaging Het
Itsn1 G A 16: 91,818,558 R397H unknown Het
Kdm5b T A 1: 134,613,919 M744K probably damaging Het
Mettl16 T C 11: 74,817,679 V568A probably damaging Het
Mink1 C T 11: 70,606,081 Q422* probably null Het
Mvb12b G T 2: 33,840,222 D81E probably benign Het
Nostrin A T 2: 69,179,466 I313F probably damaging Het
Nsun6 A G 2: 15,009,408 probably null Het
Nt5dc1 T A 10: 34,324,396 E209V possibly damaging Het
Oasl2 T C 5: 114,901,286 probably benign Het
Olfr303 C T 7: 86,395,265 V78M possibly damaging Het
Olfr517 C T 7: 108,868,788 R122Q possibly damaging Het
Olfr857 T A 9: 19,712,789 probably benign Het
Ppm1h A T 10: 122,802,436 T204S probably benign Het
Rad51b T A 12: 79,303,341 L70I probably benign Het
Smok3c A G 5: 138,065,024 T258A possibly damaging Het
Snai2 T C 16: 14,706,804 V58A possibly damaging Het
Spata48 T C 11: 11,487,734 S246P unknown Het
St6galnac1 G A 11: 116,775,490 probably benign 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
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
R7574:Aldh8a1 UTSW 10 21380830 missense possibly damaging 0.78
R8014:Aldh8a1 UTSW 10 21389302 missense probably benign 0.03
R8150:Aldh8a1 UTSW 10 21395545 missense probably damaging 1.00
R8151:Aldh8a1 UTSW 10 21395566 missense probably damaging 0.97
R9058:Aldh8a1 UTSW 10 21382445 missense possibly damaging 0.50
R9250:Aldh8a1 UTSW 10 21382360 missense probably damaging 0.98
R9451:Aldh8a1 UTSW 10 21389133 missense probably benign
R9578:Aldh8a1 UTSW 10 21377382 missense probably damaging 1.00
X0011:Aldh8a1 UTSW 10 21389239 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGAGATCTTTGGTCCAGTGACG -3'
(R):5'- CAGTGGTCATTGAGAGCCAG -3'

Sequencing Primer
(F):5'- GCTAACAGTGTTAGATACGGGCTG -3'
(R):5'- AGTCTCCTGGCAAGCAGC -3'
Posted On 2020-07-13