Incidental Mutation 'R5626:Adh1'
ID 441830
Institutional Source Beutler Lab
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
MMRRC Submission 043165-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5626 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 137983346-137996459 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 137986171 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 53 (V53L)
Ref Sequence ENSEMBL: ENSMUSP00000004232 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004232] [ENSMUST00000159159]
AlphaFold P00329
Predicted Effect probably benign
Transcript: ENSMUST00000004232
AA Change: V53L

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000004232
Gene: ENSMUSG00000074207
AA Change: V53L

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: ENSMUST00000161799
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162032
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arfgap2 C T 2: 91,105,737 (GRCm39) Q514* probably null Het
Calhm2 A C 19: 47,121,558 (GRCm39) C204G probably damaging Het
Carhsp1 T C 16: 8,478,897 (GRCm39) N119D probably benign Het
Cfap57 A G 4: 118,471,980 (GRCm39) L133P probably damaging Het
Clcn4 A T 7: 7,292,017 (GRCm39) V598E probably damaging Het
Cpxm2 TGCAGCAGCAGCAGCAGCAG TGCAGCAGCAGCAGCAG 7: 131,661,581 (GRCm39) probably benign Het
Ddi1 T C 9: 6,266,003 (GRCm39) H122R probably benign Het
Dync1h1 A G 12: 110,607,575 (GRCm39) T2697A probably benign Het
Ednrb T A 14: 104,080,564 (GRCm39) I117F probably damaging Het
Egflam A G 15: 7,280,688 (GRCm39) S446P possibly damaging Het
F5 A G 1: 164,036,604 (GRCm39) I1922V probably damaging Het
Gpc1 T A 1: 92,784,841 (GRCm39) probably null Het
Gphn A C 12: 78,730,671 (GRCm39) I769L probably benign Het
Grid2 T C 6: 64,053,929 (GRCm39) probably null Het
Hira G T 16: 18,746,262 (GRCm39) Q468H probably damaging Het
Hmcn1 C T 1: 150,532,318 (GRCm39) G3154E probably damaging Het
Ighv16-1 G A 12: 114,032,472 (GRCm39) T92M probably damaging Het
Lcmt2 T C 2: 120,969,943 (GRCm39) E380G probably benign Het
Ms4a14 A G 19: 11,281,419 (GRCm39) F380L probably benign Het
Myof T C 19: 37,911,438 (GRCm39) N1511D probably benign Het
Ncbp1 G A 4: 46,161,290 (GRCm39) S422N probably damaging Het
Pcolce T A 5: 137,608,661 (GRCm39) T26S probably damaging Het
Pitpnm3 T C 11: 72,003,158 (GRCm39) I51V probably benign Het
Plcb3 T C 19: 6,932,643 (GRCm39) S1041G probably benign Het
Ppp5c T C 7: 16,761,629 (GRCm39) D37G probably benign Het
Prkca T C 11: 107,948,641 (GRCm39) D116G possibly damaging Het
Qrsl1 A T 10: 43,757,516 (GRCm39) D367E probably benign Het
Rbm26 T C 14: 105,381,667 (GRCm39) T493A probably benign Het
Saxo1 T C 4: 86,363,826 (GRCm39) E219G probably damaging Het
Slc22a16 A T 10: 40,460,849 (GRCm39) probably null Het
Tmem30c T C 16: 57,096,506 (GRCm39) N205S possibly damaging Het
Trp53i11 A G 2: 93,029,723 (GRCm39) N119S possibly damaging Het
Wnt3a A T 11: 59,181,409 (GRCm39) I22N probably benign Het
Zfp998 A G 13: 66,580,040 (GRCm39) Y148H probably benign 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
IGL01326:Adh1 APN 3 137,992,672 (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
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
Predicted Primers PCR Primer
(F):5'- CGGAAACACTGGAGAATCTTGG -3'
(R):5'- GAGGAAGCCTTCTATTGCCTG -3'

Sequencing Primer
(F):5'- CACTGGAGAATCTTGGAGATAAATG -3'
(R):5'- GAAGCCTTCTATTGCCTGGCTTTTC -3'
Posted On 2016-11-08