Incidental Mutation 'R5263:Adh4'
ID 401546
Institutional Source Beutler Lab
Gene Symbol Adh4
Ensembl Gene ENSMUSG00000037797
Gene Name alcohol dehydrogenase 4 (class II), pi polypeptide
Synonyms Adh2, mouse class II type ADH
MMRRC Submission 042831-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.120) question?
Stock # R5263 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 138121227-138136653 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 138133816 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 309 (V309L)
Ref Sequence ENSEMBL: ENSMUSP00000013458 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013458] [ENSMUST00000161312]
AlphaFold Q9QYY9
PDB Structure Mouse class II alcohol dehydrogenase complex with NADH [X-RAY DIFFRACTION]
Mouse class II alcohol dehydrogenase complex with NADH and inhibitor [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000013458
AA Change: V309L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000013458
Gene: ENSMUSG00000037797
AA Change: V309L

Pfam:ADH_N 34 165 3.1e-23 PFAM
Pfam:ADH_zinc_N 207 337 8.2e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161312
SMART Domains Protein: ENSMUSP00000124163
Gene: ENSMUSG00000037797

Pfam:ADH_N 46 177 2.8e-25 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes class II alcohol dehydrogenase 4 pi 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 II alcohol dehydrogenase is a homodimer composed of 2 pi subunits. It exhibits a high activity for oxidation of long-chain aliphatic alcohols and aromatic alcohols and is less sensitive to pyrazole. This gene is localized to chromosome 4 in the cluster of alcohol dehydrogenase genes. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agmo T C 12: 37,407,680 (GRCm39) V188A probably benign Het
Aqr A G 2: 113,947,059 (GRCm39) M1041T probably damaging Het
Arhgef4 T A 1: 34,764,078 (GRCm39) S1111R possibly damaging Het
Ascc3 A C 10: 50,592,757 (GRCm39) E1144D probably benign Het
Cct3 T C 3: 88,228,672 (GRCm39) probably null Het
Cd209f T C 8: 4,154,506 (GRCm39) T114A probably benign Het
Cgnl1 G A 9: 71,539,936 (GRCm39) Q1103* probably null Het
Cop1 G A 1: 159,152,507 (GRCm39) D586N probably damaging Het
Dcaf5 A G 12: 80,395,120 (GRCm39) S350P probably damaging Het
Dhx29 T C 13: 113,084,755 (GRCm39) C658R probably damaging Het
Dync1i1 G A 6: 5,969,446 (GRCm39) V424I possibly damaging Het
Gfap C T 11: 102,787,756 (GRCm39) R63Q probably damaging Het
Gm10563 CTTT CTTTATTT 4: 155,698,940 (GRCm39) probably null Het
Gprc6a C A 10: 51,502,900 (GRCm39) G321V probably damaging Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Izumo1r A G 9: 14,812,976 (GRCm39) C99R probably damaging Het
Lrp1b T C 2: 41,850,691 (GRCm39) D102G probably damaging Het
Mettl4 G A 17: 95,047,937 (GRCm39) Q235* probably null Het
Mmrn2 A G 14: 34,121,541 (GRCm39) T804A probably benign Het
Mrgprb5 A G 7: 47,817,937 (GRCm39) V266A probably damaging Het
Ntng1 T C 3: 109,842,188 (GRCm39) D195G probably damaging Het
Pld4 T C 12: 112,731,465 (GRCm39) L206P probably damaging Het
Polr3a T C 14: 24,505,009 (GRCm39) I1084V possibly damaging Het
Prkd1 A G 12: 50,435,089 (GRCm39) L546P probably damaging Het
Rhob A T 12: 8,549,232 (GRCm39) M134K probably benign Het
Ryr3 A G 2: 112,548,347 (GRCm39) S3087P possibly damaging Het
Sema6c T C 3: 95,080,463 (GRCm39) L887P probably benign Het
Sltm T C 9: 70,492,081 (GRCm39) S648P unknown Het
Sucnr1 A G 3: 59,994,190 (GRCm39) I239M possibly damaging Het
Tgtp2 T A 11: 48,950,090 (GRCm39) M161L probably damaging Het
Trpm7 A G 2: 126,663,137 (GRCm39) V1037A probably benign Het
Vmn2r13 A T 5: 109,321,841 (GRCm39) H285Q probably benign Het
Zfp971 T A 2: 177,675,555 (GRCm39) C385S probably damaging Het
Zfpm2 T A 15: 40,962,791 (GRCm39) V283E probably benign Het
Zranb1 CTGATGATGATG CTGATGATGATGATG 7: 132,584,556 (GRCm39) probably benign Het
Other mutations in Adh4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00592:Adh4 APN 3 138,126,397 (GRCm39) missense probably damaging 0.99
IGL01450:Adh4 APN 3 138,129,794 (GRCm39) missense probably benign 0.05
IGL01608:Adh4 APN 3 138,134,788 (GRCm39) unclassified probably benign
IGL01618:Adh4 APN 3 138,134,788 (GRCm39) unclassified probably benign
IGL01621:Adh4 APN 3 138,134,788 (GRCm39) unclassified probably benign
IGL01640:Adh4 APN 3 138,134,788 (GRCm39) unclassified probably benign
IGL01979:Adh4 APN 3 138,134,788 (GRCm39) unclassified probably benign
IGL01982:Adh4 APN 3 138,134,788 (GRCm39) unclassified probably benign
IGL01993:Adh4 APN 3 138,134,788 (GRCm39) unclassified probably benign
IGL02720:Adh4 APN 3 138,124,981 (GRCm39) missense possibly damaging 0.87
IGL03030:Adh4 APN 3 138,134,906 (GRCm39) missense probably benign 0.13
PIT4403001:Adh4 UTSW 3 138,129,939 (GRCm39) missense probably damaging 0.97
R0295:Adh4 UTSW 3 138,134,837 (GRCm39) missense probably damaging 1.00
R0308:Adh4 UTSW 3 138,129,863 (GRCm39) missense probably damaging 1.00
R0636:Adh4 UTSW 3 138,133,835 (GRCm39) missense probably damaging 1.00
R1450:Adh4 UTSW 3 138,129,935 (GRCm39) missense probably damaging 1.00
R4824:Adh4 UTSW 3 138,134,807 (GRCm39) missense possibly damaging 0.81
R5137:Adh4 UTSW 3 138,127,996 (GRCm39) missense probably benign 0.00
R5566:Adh4 UTSW 3 138,129,950 (GRCm39) missense probably damaging 1.00
R6162:Adh4 UTSW 3 138,121,250 (GRCm39) splice site probably null
R7297:Adh4 UTSW 3 138,134,901 (GRCm39) missense possibly damaging 0.88
R8430:Adh4 UTSW 3 138,128,145 (GRCm39) missense probably damaging 1.00
R9053:Adh4 UTSW 3 138,128,045 (GRCm39) missense probably damaging 0.99
R9253:Adh4 UTSW 3 138,129,860 (GRCm39) missense probably damaging 1.00
Z1187:Adh4 UTSW 3 138,125,091 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-07-06