Incidental Mutation 'R8300:Adh7'
ID 639186
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 067788-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R8300 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 137923521-137939143 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 137929825 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 167 (E167G)
Ref Sequence ENSEMBL: ENSMUSP00000087633 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090171]
AlphaFold Q64437
Predicted Effect probably damaging
Transcript: ENSMUST00000090171
AA Change: E167G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000087633
Gene: ENSMUSG00000055301
AA Change: E167G

DomainStartEndE-ValueType
Pfam:ADH_N 34 160 6.6e-27 PFAM
Pfam:ADH_zinc_N 202 337 2e-22 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (64/64)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AB124611 A G 9: 21,437,561 (GRCm39) M1V probably null Het
Abca12 T A 1: 71,353,123 (GRCm39) N773I possibly damaging Het
Ank2 T A 3: 126,804,555 (GRCm39) D622V Het
Asf1b T A 8: 84,695,805 (GRCm39) F149I possibly damaging Het
Bach1 T C 16: 87,515,996 (GRCm39) V179A probably benign Het
C1ra C T 6: 124,498,597 (GRCm39) A430V probably benign Het
Cacna1c T A 6: 118,575,717 (GRCm39) Q1944L Het
Camkk1 T C 11: 72,918,266 (GRCm39) V158A probably benign Het
Ccdc152 T C 15: 3,327,634 (GRCm39) T48A probably benign Het
Cd180 A T 13: 102,841,301 (GRCm39) M116L probably benign Het
Clca3a2 C T 3: 144,804,692 (GRCm39) G12R probably benign Het
Coq8b T C 7: 26,941,671 (GRCm39) V252A possibly damaging Het
Cp A G 3: 20,011,385 (GRCm39) probably benign Het
Ctsj A T 13: 61,150,285 (GRCm39) V238E probably damaging Het
Ctsj C T 13: 61,150,286 (GRCm39) V238I probably damaging Het
Cxcr2 A T 1: 74,198,333 (GRCm39) M276L probably benign Het
Drd5 T C 5: 38,477,672 (GRCm39) S222P probably damaging Het
Egflam T C 15: 7,283,932 (GRCm39) D269G possibly damaging Het
Fbn2 C T 18: 58,342,687 (GRCm39) R64Q probably benign Het
Fyb2 A T 4: 104,857,689 (GRCm39) K622M probably damaging Het
Gm10220 T C 5: 26,322,818 (GRCm39) E198G probably damaging Het
Gm1527 A T 3: 28,980,744 (GRCm39) N615Y possibly damaging Het
Gpatch3 A G 4: 133,307,140 (GRCm39) H308R probably damaging Het
Gsdmc4 A G 15: 63,766,790 (GRCm39) I261T probably damaging Het
Gsg1 T G 6: 135,214,580 (GRCm39) T310P probably benign Het
Hecw2 T C 1: 53,926,775 (GRCm39) S1075G probably null Het
Hyal6 A G 6: 24,734,087 (GRCm39) T7A probably benign Het
Ighv1-59 T G 12: 115,298,987 (GRCm39) Q22H probably damaging Het
Lyst T A 13: 13,838,643 (GRCm39) M1853K possibly damaging Het
Maco1 A G 4: 134,555,762 (GRCm39) I237T probably benign Het
Mccc1 A T 3: 36,017,753 (GRCm39) M649K probably damaging Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Nek4 A G 14: 30,692,352 (GRCm39) D399G Het
Obscn T C 11: 58,933,896 (GRCm39) K5323E probably benign Het
Or6p1 T A 1: 174,258,100 (GRCm39) Y35* probably null Het
Paics T C 5: 77,109,253 (GRCm39) V196A probably damaging Het
Pced1a C A 2: 130,266,157 (GRCm39) probably benign Het
Pierce1 A T 2: 28,352,435 (GRCm39) Y109* probably null Het
Pik3cb A G 9: 98,928,711 (GRCm39) V848A probably damaging Het
Ppm1h T A 10: 122,618,118 (GRCm39) N92K probably damaging Het
Ppp1r16b T A 2: 158,588,571 (GRCm39) I152N probably damaging Het
Pramel7 A G 2: 87,319,967 (GRCm39) M442T probably benign Het
Prex2 A T 1: 11,301,942 (GRCm39) N1415I possibly damaging Het
Pum3 T C 19: 27,399,773 (GRCm39) K220R probably benign Het
Qrich2 G T 11: 116,347,175 (GRCm39) D1216E probably benign Het
Rbbp8 T A 18: 11,838,833 (GRCm39) silent Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Rimbp2 C T 5: 128,874,835 (GRCm39) R252Q probably damaging Het
Rnpep T C 1: 135,211,397 (GRCm39) H117R probably benign Het
Serpinb10 A G 1: 107,474,456 (GRCm39) D206G probably benign Het
Sh3tc1 C T 5: 35,854,792 (GRCm39) V1302M probably benign Het
Slmap T C 14: 26,139,374 (GRCm39) E780G possibly damaging Het
Snrpg T A 6: 86,353,558 (GRCm39) V46E probably damaging Het
Spef1l A T 7: 139,557,091 (GRCm39) I98N probably damaging Het
Sptbn5 T A 2: 119,878,058 (GRCm39) Q953L noncoding transcript Het
Stard9 C T 2: 120,535,250 (GRCm39) L3836F possibly damaging Het
Tcerg1 T A 18: 42,683,137 (GRCm39) M619K probably benign Het
Tcof1 G C 18: 60,962,123 (GRCm39) A702G possibly damaging Het
Tnfrsf9 C T 4: 151,017,556 (GRCm39) T137M probably damaging Het
Tpbgl G T 7: 99,274,774 (GRCm39) A361E probably damaging Het
Trak1 G T 9: 121,289,565 (GRCm39) E626* probably null Het
Trio G T 15: 27,855,108 (GRCm39) H750Q possibly damaging Het
U2af2 T C 7: 5,070,414 (GRCm39) probably benign Het
Vmn2r3 T C 3: 64,182,347 (GRCm39) I451V probably benign Het
Zfp930 A T 8: 69,680,998 (GRCm39) N230I probably benign 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
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
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'- TTCAGCCAGTCATTTGGGTTC -3'
(R):5'- AAATTTCGACTTTGATCCCACC -3'

Sequencing Primer
(F):5'- CCCCATGGTAGTTTCTGGATTGAC -3'
(R):5'- ACCTCTTTCAAATTGCTTTAGGG -3'
Posted On 2020-07-28