Incidental Mutation 'IGL01326:Adh1'
ID 74253
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adh1
Ensembl Gene ENSMUSG00000074207
Gene Name alcohol dehydrogenase 1 (class I)
Synonyms Adh-1-t, Adh-1t, Adh-1, Adh1tl, Adh1-t, Adh1-e, class I alcohol dehydrogenase, Adh-1e, ADH-AA
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01326
Quality Score
Status
Chromosome 3
Chromosomal Location 137983346-137996459 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 137992672 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 263 (V263M)
Ref Sequence ENSEMBL: ENSMUSP00000004232 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004232] [ENSMUST00000159159]
AlphaFold P00329
Predicted Effect probably damaging
Transcript: ENSMUST00000004232
AA Change: V263M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000004232
Gene: ENSMUSG00000074207
AA Change: V263M

DomainStartEndE-ValueType
Pfam:ADH_N 34 161 1.3e-25 PFAM
Pfam:ADH_zinc_N 203 337 3.6e-27 PFAM
Pfam:ADH_zinc_N_2 236 369 1.2e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159159
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160080
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162032
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 I alcohol dehydrogenase, gamma subunit, which is a member of the alcohol dehydrogenase family. Members of this enzyme family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. Class I alcohol dehydrogenase, consisting of several homo- and heterodimers of alpha, beta, and gamma subunits, exhibits high activity for ethanol oxidation and plays a major role in ethanol catabolism. Three genes encoding alpha, beta and gamma subunits are tandemly organized in a genomic segment as a gene cluster. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit impaired metabolism of (and sensitivity to) ethanol and retinol. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap13 T A 7: 75,375,096 (GRCm39) H1909Q probably benign Het
Atg2b C T 12: 105,588,403 (GRCm39) A1936T probably damaging Het
Atp8b3 G T 10: 80,360,210 (GRCm39) L954M probably damaging Het
C8a T C 4: 104,713,617 (GRCm39) Y171C probably damaging Het
Cd6 A G 19: 10,768,466 (GRCm39) S508P probably benign Het
Cdk4 A G 10: 126,900,492 (GRCm39) D86G possibly damaging Het
Cdr2l G T 11: 115,281,796 (GRCm39) R100S probably benign Het
Cndp1 T A 18: 84,640,357 (GRCm39) T283S probably benign Het
Cr2 T C 1: 194,823,529 (GRCm39) Y1023C probably null Het
Csmd3 A G 15: 47,713,181 (GRCm39) F1494L probably benign Het
Eeig2 A G 3: 108,887,101 (GRCm39) V299A possibly damaging Het
Eng G T 2: 32,562,394 (GRCm39) G231W probably benign Het
Erp44 A G 4: 48,218,126 (GRCm39) V181A probably benign Het
Fkbp15 A G 4: 62,241,487 (GRCm39) S553P probably damaging Het
Glg1 A G 8: 111,909,205 (GRCm39) V495A probably damaging Het
Gm9631 A T 11: 121,836,454 (GRCm39) D28E possibly damaging Het
Gnptab G T 10: 88,268,927 (GRCm39) L543F probably damaging Het
H4c3 A T 13: 23,882,353 (GRCm39) I27N probably damaging Het
Khdrbs2 T G 1: 32,696,558 (GRCm39) L329R possibly damaging Het
Kidins220 C A 12: 25,088,498 (GRCm39) H1080Q probably damaging Het
Maml1 G A 11: 50,156,715 (GRCm39) P487S probably benign Het
Me1 C T 9: 86,480,771 (GRCm39) probably null Het
Morc2a C T 11: 3,631,775 (GRCm39) R569C probably benign Het
Mrc1 A G 2: 14,271,335 (GRCm39) Q413R probably damaging Het
Mrgprx1 A T 7: 47,671,517 (GRCm39) C77S probably benign Het
Mtarc2 T C 1: 184,566,048 (GRCm39) probably benign Het
Myo1d A T 11: 80,575,147 (GRCm39) probably benign Het
Nr4a1 T G 15: 101,171,940 (GRCm39) L538R probably damaging Het
Olfm1 T C 2: 28,119,564 (GRCm39) Y385H probably damaging Het
Or4a39 A T 2: 89,236,675 (GRCm39) F249L possibly damaging Het
Or5m9 A G 2: 85,877,627 (GRCm39) E267G probably damaging Het
Pkd1 T A 17: 24,795,148 (GRCm39) Y2278* probably null Het
Plcg2 T C 8: 118,300,738 (GRCm39) probably benign Het
Prkdc G T 16: 15,647,556 (GRCm39) C3660F probably benign Het
Ptpn11 T C 5: 121,281,199 (GRCm39) D493G probably damaging Het
Rad23b T A 4: 55,383,601 (GRCm39) F278I possibly damaging Het
Saxo2 T C 7: 82,297,613 (GRCm39) I9V probably benign Het
Scn7a T C 2: 66,582,604 (GRCm39) I98V probably benign Het
Serac1 T A 17: 6,124,528 (GRCm39) probably benign Het
Simc1 T C 13: 54,672,473 (GRCm39) C274R probably benign Het
Sirt3 A G 7: 140,444,006 (GRCm39) probably benign Het
Tctn3 A G 19: 40,585,880 (GRCm39) L555P probably damaging Het
Ttc14 A G 3: 33,855,507 (GRCm39) I151V probably benign Het
Ush2a T A 1: 187,995,518 (GRCm39) Y96* probably null Het
Usp42 T C 5: 143,706,970 (GRCm39) T270A possibly damaging Het
Vmn1r31 A G 6: 58,449,784 (GRCm39) I27T probably benign Het
Vmn2r93 G A 17: 18,536,906 (GRCm39) A530T possibly damaging Het
Other mutations in Adh1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00424:Adh1 APN 3 137,988,260 (GRCm39) missense probably benign 0.00
IGL00510:Adh1 APN 3 137,995,668 (GRCm39) missense probably damaging 1.00
IGL01662:Adh1 APN 3 137,988,512 (GRCm39) missense possibly damaging 0.96
IGL02090:Adh1 APN 3 137,988,546 (GRCm39) missense possibly damaging 0.95
PIT4687001:Adh1 UTSW 3 137,995,596 (GRCm39) missense probably damaging 1.00
R0413:Adh1 UTSW 3 137,986,193 (GRCm39) missense probably benign 0.00
R0882:Adh1 UTSW 3 137,992,558 (GRCm39) missense possibly damaging 0.65
R1426:Adh1 UTSW 3 137,992,556 (GRCm39) missense probably damaging 1.00
R1464:Adh1 UTSW 3 137,994,508 (GRCm39) critical splice acceptor site probably null
R1464:Adh1 UTSW 3 137,994,508 (GRCm39) critical splice acceptor site probably null
R1901:Adh1 UTSW 3 137,994,558 (GRCm39) missense probably benign 0.00
R2056:Adh1 UTSW 3 137,992,676 (GRCm39) missense probably damaging 1.00
R2095:Adh1 UTSW 3 137,988,557 (GRCm39) missense probably damaging 1.00
R3155:Adh1 UTSW 3 137,986,250 (GRCm39) missense probably damaging 0.99
R3752:Adh1 UTSW 3 137,994,555 (GRCm39) missense probably benign
R3795:Adh1 UTSW 3 137,985,526 (GRCm39) missense possibly damaging 0.85
R4351:Adh1 UTSW 3 137,986,258 (GRCm39) missense probably benign 0.21
R4698:Adh1 UTSW 3 137,988,274 (GRCm39) missense probably benign 0.05
R4747:Adh1 UTSW 3 137,994,642 (GRCm39) missense probably damaging 1.00
R5626:Adh1 UTSW 3 137,986,171 (GRCm39) missense probably benign 0.04
R6014:Adh1 UTSW 3 137,992,559 (GRCm39) missense probably benign 0.00
R6060:Adh1 UTSW 3 137,992,544 (GRCm39) missense probably damaging 1.00
R6225:Adh1 UTSW 3 137,995,565 (GRCm39) missense probably benign 0.04
R6637:Adh1 UTSW 3 137,988,231 (GRCm39) nonsense probably null
R7129:Adh1 UTSW 3 137,986,235 (GRCm39) missense probably damaging 0.98
R7288:Adh1 UTSW 3 137,988,493 (GRCm39) missense probably benign
R7291:Adh1 UTSW 3 137,988,569 (GRCm39) missense probably damaging 1.00
R7367:Adh1 UTSW 3 137,996,312 (GRCm39) missense probably benign 0.04
R7378:Adh1 UTSW 3 137,994,648 (GRCm39) splice site probably null
R7453:Adh1 UTSW 3 137,995,702 (GRCm39) critical splice donor site probably null
R7613:Adh1 UTSW 3 137,992,592 (GRCm39) nonsense probably null
R8848:Adh1 UTSW 3 137,986,262 (GRCm39) missense probably benign 0.12
R9513:Adh1 UTSW 3 137,988,571 (GRCm39) nonsense probably null
Z1187:Adh1 UTSW 3 137,992,544 (GRCm39) missense probably damaging 1.00
Z1190:Adh1 UTSW 3 137,992,544 (GRCm39) missense probably damaging 1.00
Posted On 2013-10-07