Incidental Mutation 'R3774:Dhdh'
ID 273503
Institutional Source Beutler Lab
Gene Symbol Dhdh
Ensembl Gene ENSMUSG00000011382
Gene Name dihydrodiol dehydrogenase
Synonyms Xld1, Xld-1, 1300018L09Rik, B830008H07Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R3774 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 45122380-45138312 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 45131362 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 157 (D157V)
Ref Sequence ENSEMBL: ENSMUSP00000011526 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000011526] [ENSMUST00000107758] [ENSMUST00000107759] [ENSMUST00000210813]
AlphaFold Q9DBB8
Predicted Effect probably benign
Transcript: ENSMUST00000011526
AA Change: D157V

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000011526
Gene: ENSMUSG00000011382
AA Change: D157V

DomainStartEndE-ValueType
Pfam:GFO_IDH_MocA 3 124 2e-25 PFAM
low complexity region 307 320 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107758
SMART Domains Protein: ENSMUSP00000103387
Gene: ENSMUSG00000023467

DomainStartEndE-ValueType
low complexity region 100 108 N/A INTRINSIC
Pfam:Tub 203 451 4.1e-85 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107759
SMART Domains Protein: ENSMUSP00000103388
Gene: ENSMUSG00000023467

DomainStartEndE-ValueType
low complexity region 100 108 N/A INTRINSIC
Pfam:Tub 203 444 3.4e-117 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209450
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210440
Predicted Effect unknown
Transcript: ENSMUST00000210701
AA Change: D58V
Predicted Effect probably benign
Transcript: ENSMUST00000210813
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211413
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme that belongs to the family of dihydrodiol dehydrogenases, which exist in multiple forms in mammalian tissues and are involved in the metabolism of xenobiotics and sugars. These enzymes catalyze the NADP1-linked oxidation of transdihydrodiols of aromatic hydrocarbons to corresponding catechols. This enzyme is a dimeric dihydrodiol dehydrogenase, and it differs from monomeric dihydrodiol dehydrogenases in its high substrate specificity for trans-dihydrodiols of aromatic hydrocarbons in the oxidative direction. [provided by RefSeq, Jul 2008]
PHENOTYPE: This locus controls electrophoretic variation in xylose dehydrogenase. The a allele determines a fast anodally migrating band in IS/Cam; the b allele determines a slower band in most inbreds; the c allele determines no band in 101/H. a/b heterozygotes show 3-bands, suggesting the enzyme is a dimer. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadm A G 3: 153,638,734 (GRCm39) V213A probably benign Het
Ccndbp1 A G 2: 120,839,581 (GRCm39) K26R possibly damaging Het
Chrna10 T C 7: 101,763,535 (GRCm39) T87A probably benign Het
Col27a1 T A 4: 63,232,963 (GRCm39) N360K probably benign Het
Crispld2 T C 8: 120,756,005 (GRCm39) S325P probably damaging Het
Dgkd T A 1: 87,864,022 (GRCm39) I79N probably damaging Het
Dnajc15 A T 14: 78,094,377 (GRCm39) probably null Het
Fbxo44 G T 4: 148,241,051 (GRCm39) F179L probably damaging Het
Gm5565 T A 5: 146,095,419 (GRCm39) E192V probably benign Het
Gpat4 G A 8: 23,670,171 (GRCm39) P286L probably damaging Het
Itgav A G 2: 83,622,308 (GRCm39) E630G probably damaging Het
Iws1 T C 18: 32,213,048 (GRCm39) S159P probably damaging Het
Kif23 G A 9: 61,832,274 (GRCm39) S623L probably benign Het
Krt32 A G 11: 99,978,947 (GRCm39) C36R probably benign Het
Med12l A C 3: 59,155,363 (GRCm39) Q1181P probably damaging Het
Megf10 G A 18: 57,410,177 (GRCm39) G653S probably damaging Het
Mon1a A G 9: 107,778,502 (GRCm39) Y242C probably damaging Het
Msh6 G T 17: 88,293,609 (GRCm39) R788L probably damaging Het
Mttp T C 3: 137,820,024 (GRCm39) probably null Het
Mxi1 C A 19: 53,360,160 (GRCm39) A294E probably benign Het
Olfm5 T A 7: 103,811,056 (GRCm39) R27S possibly damaging Het
Or52n2b T A 7: 104,566,113 (GRCm39) Y130F probably benign Het
Palmd T C 3: 116,721,312 (GRCm39) E81G probably damaging Het
Pecr A G 1: 72,298,530 (GRCm39) F297L probably benign Het
Phf11b A G 14: 59,563,506 (GRCm39) L137S probably benign Het
Phlpp1 GAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC GAGCAGCAGCAGCAGCAGCAGCAGCAGC 1: 106,320,921 (GRCm39) probably benign Het
Plcb4 A G 2: 135,800,065 (GRCm39) K472E probably benign Het
Pomgnt1 G A 4: 116,011,325 (GRCm39) R230H probably damaging Het
Pomt1 A G 2: 32,134,262 (GRCm39) H261R possibly damaging Het
Ppm1d T C 11: 85,227,993 (GRCm39) I303T probably damaging Het
Ptprc T G 1: 137,992,511 (GRCm39) Q1205H probably damaging Het
Rad23b C T 4: 55,382,589 (GRCm39) T264I possibly damaging Het
Rfc1 T C 5: 65,421,749 (GRCm39) Y1050C probably damaging Het
Septin8 T C 11: 53,428,406 (GRCm39) V352A probably damaging Het
Slc25a13 T A 6: 6,109,288 (GRCm39) Q358L probably damaging Het
Ssh1 T C 5: 114,104,783 (GRCm39) D12G probably damaging Het
Tmem59l A G 8: 70,939,951 (GRCm39) L6S unknown Het
Tnik T C 3: 28,692,568 (GRCm39) Y820H probably damaging Het
Trpm3 T C 19: 22,955,966 (GRCm39) F1143L possibly damaging Het
Trpm3 T A 19: 22,965,339 (GRCm39) S1611R probably benign Het
Ttyh3 A G 5: 140,634,489 (GRCm39) F32L probably damaging Het
Unkl T A 17: 25,407,381 (GRCm39) probably null Het
Vwf T A 6: 125,626,062 (GRCm39) probably null Het
Wdr11 T A 7: 129,233,417 (GRCm39) probably null Het
Yeats2 A G 16: 19,969,245 (GRCm39) D12G probably damaging Het
Other mutations in Dhdh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02172:Dhdh APN 7 45,125,041 (GRCm39) missense probably damaging 1.00
R0020:Dhdh UTSW 7 45,137,528 (GRCm39) missense probably benign 0.00
R0331:Dhdh UTSW 7 45,137,544 (GRCm39) missense probably benign 0.26
R0514:Dhdh UTSW 7 45,138,130 (GRCm39) missense probably benign 0.16
R0890:Dhdh UTSW 7 45,131,395 (GRCm39) missense possibly damaging 0.80
R4967:Dhdh UTSW 7 45,128,530 (GRCm39) missense probably damaging 1.00
R7000:Dhdh UTSW 7 45,124,698 (GRCm39) missense possibly damaging 0.68
R8869:Dhdh UTSW 7 45,137,536 (GRCm39) missense probably benign 0.01
R9653:Dhdh UTSW 7 45,128,551 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2015-03-25