Incidental Mutation 'R1127:Adh7'
ID 96272
Institutional Source Beutler Lab
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
MMRRC Submission 039200-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R1127 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 137923521-137939143 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 137927490 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 12 (A12V)
Ref Sequence ENSEMBL: ENSMUSP00000087633 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090171]
AlphaFold Q64437
Predicted Effect probably benign
Transcript: ENSMUST00000090171
AA Change: A12V

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000087633
Gene: ENSMUSG00000055301
AA Change: A12V

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
  • 1x: 98.7%
  • 3x: 97.5%
  • 10x: 93.1%
  • 20x: 80.6%
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700088E04Rik T C 15: 79,019,403 (GRCm39) D179G probably benign Het
Aadacl2fm2 G A 3: 59,659,314 (GRCm39) E256K probably benign Het
Ankhd1 T A 18: 36,767,399 (GRCm39) N1179K probably damaging Het
Ankrd50 T C 3: 38,511,336 (GRCm39) T344A probably benign Het
Aplf T C 6: 87,623,273 (GRCm39) T269A probably benign Het
Cavin4 T C 4: 48,663,637 (GRCm39) S6P probably damaging Het
Ces2g T C 8: 105,694,094 (GRCm39) probably null Het
Cyp2c66 A T 19: 39,151,812 (GRCm39) N176Y probably damaging Het
Dnah3 T A 7: 119,522,253 (GRCm39) D3980V probably damaging Het
Drc7 G T 8: 95,799,416 (GRCm39) E530D probably damaging Het
Dst A G 1: 34,314,358 (GRCm39) T6434A probably damaging Het
Dtx3l A G 16: 35,759,127 (GRCm39) S41P possibly damaging Het
Eef1b2 G A 1: 63,218,616 (GRCm39) probably null Het
Eml3 C T 19: 8,913,672 (GRCm39) T43I probably damaging Het
Fam110b T A 4: 5,799,434 (GRCm39) L284Q probably damaging Het
Gpr33 A C 12: 52,070,252 (GRCm39) H262Q probably damaging Het
Igfals T G 17: 25,099,455 (GRCm39) L182R probably damaging Het
Lamc1 A G 1: 153,126,205 (GRCm39) F496L possibly damaging Het
Muc4 T A 16: 32,569,343 (GRCm39) H134Q possibly damaging Het
Nckap1 C T 2: 80,348,286 (GRCm39) S889N probably benign Het
Nxn A T 11: 76,164,895 (GRCm39) C205* probably null Het
Oga G A 19: 45,740,594 (GRCm39) R914* probably null Het
Or11l3 T C 11: 58,516,284 (GRCm39) E196G probably damaging Het
Or52h9 C A 7: 104,202,293 (GRCm39) H56N possibly damaging Het
Pamr1 A T 2: 102,469,698 (GRCm39) I415F possibly damaging Het
Ppp4r4 G A 12: 103,545,327 (GRCm39) G200E probably damaging Het
Pramel29 G A 4: 143,933,694 (GRCm39) T471I probably damaging Het
Prdm16 C A 4: 154,613,256 (GRCm39) S57I probably damaging Het
Psmd11 A G 11: 80,362,410 (GRCm39) K157R possibly damaging Het
Ptprn2 G A 12: 117,175,628 (GRCm39) probably null Het
Pus7 G A 5: 23,973,793 (GRCm39) H234Y probably benign Het
Rd3l A G 12: 111,946,717 (GRCm39) Y20H probably benign Het
Stk31 A G 6: 49,386,141 (GRCm39) D160G probably damaging Het
Sycp2 C T 2: 178,016,159 (GRCm39) E768K possibly damaging Het
Tango6 T C 8: 107,415,527 (GRCm39) V116A probably benign Het
Ttn C T 2: 76,697,574 (GRCm39) probably benign Het
Vmn2r114 ATTT ATT 17: 23,509,906 (GRCm39) probably null Het
Xylb T C 9: 119,212,443 (GRCm39) I427T probably damaging Het
Zc3h7a T G 16: 10,956,939 (GRCm39) D890A probably damaging Het
Other mutations in Adh7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00695:Adh7 APN 3 137,927,495 (GRCm39) missense probably benign 0.31
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
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
Predicted Primers PCR Primer
(F):5'- GGGTCATCTCATTGCGTCACCATTG -3'
(R):5'- ATGGCTTTCTCTGTGTAAATGACACCG -3'

Sequencing Primer
(F):5'- tgatttctcagaccatttcatcag -3'
(R):5'- CCGGTTTCCATGTTTCTGTG -3'
Posted On 2014-01-05