Incidental Mutation 'IGL00695:Adh7'
ID 8616
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adh7
Ensembl Gene ENSMUSG00000055301
Gene Name alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide
Synonyms Adh-3e, IV ADH, Adt-1, Adh-3t, Adh-3, Adh4, Adh3-t, Adh3-e, Adh3
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # IGL00695
Quality Score
Status
Chromosome 3
Chromosomal Location 137923521-137939143 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 137927495 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 14 (V14I)
Ref Sequence ENSEMBL: ENSMUSP00000087633 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090171]
AlphaFold Q64437
Predicted Effect probably benign
Transcript: ENSMUST00000090171
AA Change: V14I

PolyPhen 2 Score 0.307 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000087633
Gene: ENSMUSG00000055301
AA Change: V14I

DomainStartEndE-ValueType
Pfam:ADH_N 34 160 6.6e-27 PFAM
Pfam:ADH_zinc_N 202 337 2e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183783
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184166
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185122
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199865
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes class IV alcohol dehydrogenase 7 mu or sigma subunit, which is a member of the alcohol dehydrogenase family. Members of this family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. The enzyme encoded by this gene is inefficient in ethanol oxidation, but is the most active as a retinol dehydrogenase; thus it may participate in the synthesis of retinoic acid, a hormone important for cellular differentiation. The expression of this gene is much more abundant in stomach than liver, thus differing from the other known gene family members. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygous mutation of this gene results in defective ethanol clearance and reduced metabolism of retinal to retinoic acid. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 4 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Exoc3 C T 13: 74,355,025 (GRCm39) probably null Het
Hook3 T C 8: 26,549,278 (GRCm39) T189A possibly damaging Het
Hspbap1 C A 16: 35,634,431 (GRCm39) probably benign Het
Serpinc1 T C 1: 160,820,970 (GRCm39) F18S probably damaging Het
Other mutations in Adh7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01596:Adh7 APN 3 137,932,003 (GRCm39) missense probably damaging 1.00
IGL01960:Adh7 APN 3 137,932,043 (GRCm39) missense probably damaging 1.00
IGL02792:Adh7 APN 3 137,929,498 (GRCm39) missense probably damaging 1.00
IGL03192:Adh7 APN 3 137,933,721 (GRCm39) missense probably damaging 1.00
R1127:Adh7 UTSW 3 137,927,490 (GRCm39) missense probably benign 0.01
R1539:Adh7 UTSW 3 137,929,716 (GRCm39) missense possibly damaging 0.51
R1612:Adh7 UTSW 3 137,934,642 (GRCm39) missense possibly damaging 0.81
R1779:Adh7 UTSW 3 137,929,752 (GRCm39) missense probably damaging 0.99
R3912:Adh7 UTSW 3 137,927,541 (GRCm39) missense probably damaging 1.00
R3913:Adh7 UTSW 3 137,927,541 (GRCm39) missense probably damaging 1.00
R5699:Adh7 UTSW 3 137,932,087 (GRCm39) missense probably benign 0.00
R5765:Adh7 UTSW 3 137,932,090 (GRCm39) missense probably benign 0.37
R6383:Adh7 UTSW 3 137,933,778 (GRCm39) missense probably benign 0.09
R6520:Adh7 UTSW 3 137,929,771 (GRCm39) missense probably damaging 1.00
R6883:Adh7 UTSW 3 137,929,825 (GRCm39) missense probably damaging 1.00
R7081:Adh7 UTSW 3 137,934,606 (GRCm39) missense probably benign
R7821:Adh7 UTSW 3 137,932,136 (GRCm39) missense probably damaging 1.00
R7921:Adh7 UTSW 3 137,929,771 (GRCm39) missense probably damaging 1.00
R8300:Adh7 UTSW 3 137,929,825 (GRCm39) missense probably damaging 1.00
R9200:Adh7 UTSW 3 137,927,567 (GRCm39) missense probably benign 0.03
R9395:Adh7 UTSW 3 137,927,477 (GRCm39) missense probably damaging 1.00
R9558:Adh7 UTSW 3 137,932,043 (GRCm39) missense probably damaging 1.00
R9774:Adh7 UTSW 3 137,929,847 (GRCm39) nonsense probably null
Z1176:Adh7 UTSW 3 137,929,492 (GRCm39) missense probably benign 0.31
Posted On 2012-12-06