Incidental Mutation 'IGL01993:Adh4'
ID279250
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adh4
Ensembl Gene ENSMUSG00000037797
Gene Namealcohol dehydrogenase 4 (class II), pi polypeptide
SynonymsAdh2, mouse class II type ADH
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.103) question?
Stock #IGL01993
Quality Score
Status
Chromosome3
Chromosomal Location138415466-138430892 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) C to T at 138429027 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000124163 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013458] [ENSMUST00000161312]
Predicted Effect probably benign
Transcript: ENSMUST00000013458
SMART Domains Protein: ENSMUSP00000013458
Gene: ENSMUSG00000037797

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:ADH_N 46 177 2.8e-25 PFAM
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 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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 C A 11: 9,258,452 probably benign Het
Acnat2 A T 4: 49,380,131 S398T probably benign Het
Adgrb2 G T 4: 130,018,842 E1296D possibly damaging Het
Anapc2 C A 2: 25,274,713 D322E probably benign Het
Apobec1 A G 6: 122,588,179 probably benign Het
Asic1 T C 15: 99,697,472 V393A probably benign Het
Cfap65 A C 1: 74,920,543 F816C probably damaging Het
Cfap69 A C 5: 5,581,284 L914R probably damaging Het
Cspg4 C T 9: 56,898,478 T2191I probably benign Het
Cyp11a1 T A 9: 58,020,823 I210N probably damaging Het
Dgkb T A 12: 37,982,010 Y24N probably benign Het
Epc1 T C 18: 6,449,136 T504A possibly damaging Het
Fam135a A T 1: 24,055,911 D125E probably damaging Het
Fam192a G T 8: 94,575,752 A217D possibly damaging Het
Fgd3 T C 13: 49,280,188 H345R possibly damaging Het
Gm11492 G T 11: 87,567,729 G310W possibly damaging Het
Gm12253 T C 11: 58,434,553 V17A probably damaging Het
Hars C T 18: 36,770,212 G355D probably damaging Het
Hpgd A T 8: 56,319,062 I190F probably benign Het
Ighv1-34 A T 12: 114,851,383 M53K probably benign Het
Ildr2 A T 1: 166,269,370 T53S possibly damaging Het
Ints5 T A 19: 8,895,465 C263S probably benign Het
Lars2 T C 9: 123,394,943 probably benign Het
Ldha G A 7: 46,855,100 A349T possibly damaging Het
Map3k2 T A 18: 32,226,631 C512* probably null Het
Mb21d1 A G 9: 78,442,520 S187P probably benign Het
Parp4 G A 14: 56,610,788 R687Q possibly damaging Het
Plk2 T C 13: 110,399,197 S518P probably damaging Het
Prrc2b T G 2: 32,224,045 V2036G possibly damaging Het
Psg16 T A 7: 17,093,706 S196T probably benign Het
Ranbp17 T C 11: 33,500,770 T56A possibly damaging Het
Retsat T C 6: 72,604,995 probably benign Het
Robo3 G T 9: 37,424,653 L484I probably damaging Het
Slc17a6 T C 7: 51,667,957 M446T possibly damaging Het
Slc38a1 G A 15: 96,624,046 T11M probably damaging Het
Tmem138 T C 19: 10,571,588 N106S probably benign Het
Traf1 G A 2: 34,946,867 probably benign Het
Tspan8 T C 10: 115,840,008 probably benign Het
Ubr5 T C 15: 37,973,012 E2615G probably damaging Het
Vwde A G 6: 13,219,978 I58T possibly damaging Het
Zc3h12c A G 9: 52,116,311 S603P probably damaging Het
Zfp746 A T 6: 48,082,158 S172R probably damaging Het
Other mutations in Adh4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00592:Adh4 APN 3 138420636 missense probably damaging 0.99
IGL01450:Adh4 APN 3 138424033 missense probably benign 0.05
IGL01608:Adh4 APN 3 138429027 unclassified probably benign
IGL01618:Adh4 APN 3 138429027 unclassified probably benign
IGL01621:Adh4 APN 3 138429027 unclassified probably benign
IGL01640:Adh4 APN 3 138429027 unclassified probably benign
IGL01979:Adh4 APN 3 138429027 unclassified probably benign
IGL01982:Adh4 APN 3 138429027 unclassified probably benign
IGL02720:Adh4 APN 3 138419220 missense possibly damaging 0.87
IGL03030:Adh4 APN 3 138429145 missense probably benign 0.13
PIT4403001:Adh4 UTSW 3 138424178 missense probably damaging 0.97
R0295:Adh4 UTSW 3 138429076 missense probably damaging 1.00
R0308:Adh4 UTSW 3 138424102 missense probably damaging 1.00
R0636:Adh4 UTSW 3 138428074 missense probably damaging 1.00
R1450:Adh4 UTSW 3 138424174 missense probably damaging 1.00
R4824:Adh4 UTSW 3 138429046 missense possibly damaging 0.81
R5137:Adh4 UTSW 3 138422235 missense probably benign 0.00
R5263:Adh4 UTSW 3 138428055 missense probably benign 0.00
R5566:Adh4 UTSW 3 138424189 missense probably damaging 1.00
R6162:Adh4 UTSW 3 138415489 splice site probably null
R7297:Adh4 UTSW 3 138429140 missense possibly damaging 0.88
Posted On2015-04-16