Incidental Mutation 'IGL03154:Aldh1a1'
ID411188
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aldh1a1
Ensembl Gene ENSMUSG00000053279
Gene Namealdehyde dehydrogenase family 1, subfamily A1
SynonymsAhd-2, Ahd2, ALDH1, Raldh1, E1
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.834) question?
Stock #IGL03154
Quality Score
Status
Chromosome19
Chromosomal Location20492715-20643462 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 20630768 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 318 (E318G)
Ref Sequence ENSEMBL: ENSMUSP00000084918 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087638]
Predicted Effect probably benign
Transcript: ENSMUST00000087638
AA Change: E318G

PolyPhen 2 Score 0.211 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000084918
Gene: ENSMUSG00000053279
AA Change: E318G

DomainStartEndE-ValueType
Pfam:Aldedh 29 492 5.1e-185 PFAM
Pfam:LuxC 147 368 2.4e-7 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the aldehyde dehydrogenase family. Aldehyde dehydrogenase is the next enzyme after alcohol dehydrogenase in the major pathway of alcohol metabolism. There are two major aldehyde dehydrogenase isozymes in the liver, cytosolic and mitochondrial, which are encoded by distinct genes, and can be distinguished by their electrophoretic mobility, kinetic properties, and subcellular localization. This gene encodes the cytosolic isozyme. Studies in mice show that through its role in retinol metabolism, this gene may also be involved in the regulation of the metabolic responses to high-fat diet. [provided by RefSeq, Mar 2011]
PHENOTYPE: Mice homozygous for a disruption in this gene show a significantly reduced ability to convert retinol to retinoic acid in the liver. Retinal morphology is normal even though the gene is normally highly expressed in the dorsal retina. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpi A T 1: 87,100,088 W257R probably damaging Het
Arap2 T C 5: 62,642,925 E1253G probably damaging Het
Fam208b A T 13: 3,575,255 M1565K possibly damaging Het
Fbxw13 G T 9: 109,181,465 F368L probably damaging Het
Gm7030 T A 17: 36,127,875 N208I probably benign Het
Herc2 T A 7: 56,202,159 D3655E probably damaging Het
Hkdc1 T A 10: 62,385,705 D858V probably damaging Het
Ifi205 A C 1: 174,017,666 probably benign Het
Ighv10-3 T A 12: 114,523,887 M1L probably benign Het
Igkv4-90 C T 6: 68,807,272 G87R probably damaging Het
Insc G A 7: 114,842,189 G413S probably null Het
Iqch T A 9: 63,454,682 T850S probably damaging Het
Kcnd2 A G 6: 21,216,708 Y137C probably damaging Het
Lhx6 A T 2: 36,094,443 probably null Het
Lrp2 A G 2: 69,549,042 S109P probably damaging Het
Mroh1 T C 15: 76,452,838 L1617P probably damaging Het
Olfr346 A T 2: 36,688,643 I214F possibly damaging Het
Olfr464 A T 11: 87,914,246 V220D possibly damaging Het
Olfr549 G T 7: 102,554,706 V141L probably benign Het
Olfr739 A T 14: 50,424,623 I35F probably benign Het
Prex2 T C 1: 11,153,633 V727A possibly damaging Het
Ralgapb A G 2: 158,432,866 H229R probably damaging Het
Rusc2 G A 4: 43,425,806 G1304S probably benign Het
Sbsn A G 7: 30,751,728 N56S possibly damaging Het
Skint8 T A 4: 111,939,510 probably null Het
Uso1 C A 5: 92,180,618 S358* probably null Het
Other mutations in Aldh1a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00916:Aldh1a1 APN 19 20619997 missense probably benign 0.13
IGL01769:Aldh1a1 APN 19 20642919 missense probably benign 0.29
IGL02745:Aldh1a1 APN 19 20636664 splice site probably benign
IGL02989:Aldh1a1 APN 19 20640058 splice site probably benign
LCD18:Aldh1a1 UTSW 19 20626646 intron probably benign
R0265:Aldh1a1 UTSW 19 20640076 nonsense probably null
R0282:Aldh1a1 UTSW 19 20629049 splice site probably benign
R0418:Aldh1a1 UTSW 19 20629049 splice site probably benign
R0471:Aldh1a1 UTSW 19 20602013 start codon destroyed probably null 0.99
R0556:Aldh1a1 UTSW 19 20634478 missense probably damaging 1.00
R0755:Aldh1a1 UTSW 19 20617994 missense probably benign
R1164:Aldh1a1 UTSW 19 20617946 missense probably benign 0.11
R1692:Aldh1a1 UTSW 19 20630818 missense probably damaging 1.00
R1905:Aldh1a1 UTSW 19 20617998 missense probably damaging 1.00
R2127:Aldh1a1 UTSW 19 20642915 missense probably benign 0.00
R2281:Aldh1a1 UTSW 19 20620091 missense possibly damaging 0.88
R2475:Aldh1a1 UTSW 19 20640078 missense probably benign
R3871:Aldh1a1 UTSW 19 20624753 nonsense probably null
R4607:Aldh1a1 UTSW 19 20621687 missense probably benign 0.35
R4725:Aldh1a1 UTSW 19 20640081 missense probably benign
R4791:Aldh1a1 UTSW 19 20619985 missense probably damaging 0.99
R4792:Aldh1a1 UTSW 19 20619985 missense probably damaging 0.99
R4844:Aldh1a1 UTSW 19 20634400 missense probably benign 0.00
R5639:Aldh1a1 UTSW 19 20623422 missense probably damaging 1.00
R5669:Aldh1a1 UTSW 19 20610920 missense probably damaging 1.00
R5815:Aldh1a1 UTSW 19 20630670 missense probably benign 0.00
R6387:Aldh1a1 UTSW 19 20617959 missense probably damaging 0.99
R7078:Aldh1a1 UTSW 19 20602070 missense probably benign
R7282:Aldh1a1 UTSW 19 20629070 missense possibly damaging 0.68
R7334:Aldh1a1 UTSW 19 20621711 missense probably damaging 1.00
R7578:Aldh1a1 UTSW 19 20618002 missense probably damaging 0.98
Posted On2016-08-02