Incidental Mutation 'IGL02792:Adh7'
ID359788
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adh7
Ensembl Gene ENSMUSG00000055301
Gene Namealcohol dehydrogenase 7 (class IV), mu or sigma polypeptide
SynonymsAdh3, Adh-3, Adh-3e, Adh3-e, Adh-3t, Adh3-t, Adh4, Adt-1, IV ADH
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.069) question?
Stock #IGL02792
Quality Score
Status
Chromosome3
Chromosomal Location138217760-138233382 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 138223737 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Isoleucine at position 89 (K89I)
Ref Sequence ENSEMBL: ENSMUSP00000087633 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090171]
Predicted Effect probably damaging
Transcript: ENSMUST00000090171
AA Change: K89I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000087633
Gene: ENSMUSG00000055301
AA Change: K89I

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: ENSMUST00000196133
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199865
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 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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700067P10Rik G A 17: 48,090,587 V131M probably benign Het
Abca6 A T 11: 110,188,681 C1216S probably damaging Het
Acly T C 11: 100,478,410 K1018E probably damaging Het
Acsl5 G A 19: 55,293,731 probably null Het
Adgrb1 C A 15: 74,547,622 L771I probably damaging Het
Adora2b A T 11: 62,265,483 I253F possibly damaging Het
Akna G A 4: 63,377,706 P975S possibly damaging Het
Alg9 T C 9: 50,842,748 L576P possibly damaging Het
Arhgap20 A G 9: 51,849,918 E1023G possibly damaging Het
Astn2 A T 4: 65,644,821 S908T probably benign Het
Atp1a4 C T 1: 172,227,299 probably null Het
Cabin1 T C 10: 75,746,739 Y281C probably damaging Het
Cdc42bpb G T 12: 111,299,561 F1312L probably benign Het
Cfap65 A C 1: 74,927,178 F330C probably damaging Het
Col27a1 C T 4: 63,315,583 P689S unknown Het
Col4a3 A T 1: 82,718,803 K1643N probably damaging Het
Dopey2 T A 16: 93,801,572 V1875D possibly damaging Het
Eftud2 A G 11: 102,870,256 probably benign Het
Ergic3 C A 2: 156,017,850 T357K probably damaging Het
Glra1 A T 11: 55,536,400 D36E probably damaging Het
Gpatch1 A G 7: 35,301,593 Y330H probably damaging Het
Hmcn2 T C 2: 31,346,590 S382P probably damaging Het
Kat6a G A 8: 22,938,300 E1224K probably damaging Het
Klk13 A G 7: 43,721,414 E29G possibly damaging Het
Klra9 T C 6: 130,188,680 D124G probably benign Het
Lrmda T C 14: 22,019,910 probably null Het
Ltbp1 G A 17: 75,282,994 V539M probably damaging Het
Ngfr A C 11: 95,571,861 L317R probably damaging Het
Nlrp6 C A 7: 140,922,435 H151Q probably damaging Het
Nnt A G 13: 119,357,646 L633P probably damaging Het
Nxpe3 C T 16: 55,866,172 V158M probably damaging Het
Olfr266 T C 3: 106,822,140 T140A probably damaging Het
Olfr716 T C 7: 107,148,218 F301L probably benign Het
Olfr828 C T 9: 18,815,958 S112N probably benign Het
Pla2g4f T C 2: 120,303,369 Y517C probably damaging Het
Poc1a A T 9: 106,295,194 I207F possibly damaging Het
Polr2a A G 11: 69,746,112 S338P probably damaging Het
Ptprz1 T C 6: 22,959,723 V73A probably damaging Het
Relb A T 7: 19,613,864 L281Q probably damaging Het
Rrp8 A T 7: 105,733,811 L382* probably null Het
Setd1a C T 7: 127,791,350 S523F unknown Het
Slamf8 A G 1: 172,588,130 I47T probably damaging Het
Slc16a4 G A 3: 107,298,877 A88T probably benign Het
Sox6 C T 7: 115,541,649 M532I probably benign Het
Tcp11l1 T A 2: 104,681,820 Y489F probably benign Het
Tdrd6 T G 17: 43,625,027 D1710A probably benign Het
Trim58 C T 11: 58,640,466 probably benign Het
Vangl1 A T 3: 102,163,423 I399N probably damaging Het
Vmn1r201 T C 13: 22,474,844 L76P probably damaging Het
Vmn1r58 T C 7: 5,411,229 M1V probably null Het
Wdfy4 T C 14: 33,095,305 I1561V probably benign Het
Xkr9 A G 1: 13,700,803 D181G probably damaging Het
Zfp318 T C 17: 46,409,178 F1101L probably damaging Het
Zfpm2 C A 15: 41,103,013 Q833K probably benign Het
Other mutations in Adh7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00695:Adh7 APN 3 138221734 missense probably benign 0.31
IGL01596:Adh7 APN 3 138226242 missense probably damaging 1.00
IGL01960:Adh7 APN 3 138226282 missense probably damaging 1.00
IGL03192:Adh7 APN 3 138227960 missense probably damaging 1.00
R1127:Adh7 UTSW 3 138221729 missense probably benign 0.01
R1539:Adh7 UTSW 3 138223955 missense possibly damaging 0.51
R1612:Adh7 UTSW 3 138228881 missense possibly damaging 0.81
R1779:Adh7 UTSW 3 138223991 missense probably damaging 0.99
R3912:Adh7 UTSW 3 138221780 missense probably damaging 1.00
R3913:Adh7 UTSW 3 138221780 missense probably damaging 1.00
R5699:Adh7 UTSW 3 138226326 missense probably benign 0.00
R5765:Adh7 UTSW 3 138226329 missense probably benign 0.37
R6383:Adh7 UTSW 3 138228017 missense probably benign 0.09
R6520:Adh7 UTSW 3 138224010 missense probably damaging 1.00
R6883:Adh7 UTSW 3 138224064 missense probably damaging 1.00
R7081:Adh7 UTSW 3 138228845 missense probably benign
R7821:Adh7 UTSW 3 138226375 missense probably damaging 1.00
Z1176:Adh7 UTSW 3 138223731 missense probably benign 0.31
Posted On2015-12-18