Incidental Mutation 'R8869:Dhdh'
ID 676138
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 # R8869 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 45122380-45138312 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 45137536 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 50 (N50K)
Ref Sequence ENSEMBL: ENSMUSP00000011526 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000011526] [ENSMUST00000033096] [ENSMUST00000107758] [ENSMUST00000107759] [ENSMUST00000210813] [ENSMUST00000211765]
AlphaFold Q9DBB8
Predicted Effect probably benign
Transcript: ENSMUST00000011526
AA Change: N50K

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000011526
Gene: ENSMUSG00000011382
AA Change: N50K

DomainStartEndE-ValueType
Pfam:GFO_IDH_MocA 3 124 2e-25 PFAM
low complexity region 307 320 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000033096
SMART Domains Protein: ENSMUSP00000033096
Gene: ENSMUSG00000030824

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:EF-hand_7 227 319 2.1e-9 PFAM
coiled coil region 340 407 N/A INTRINSIC
low complexity region 420 433 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 probably benign
Transcript: ENSMUST00000210701
Predicted Effect probably benign
Transcript: ENSMUST00000210813
Predicted Effect probably benign
Transcript: ENSMUST00000211765
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl5 G A 19: 55,266,523 (GRCm39) R114Q possibly damaging Het
Atp1a4 C T 1: 172,054,690 (GRCm39) V980I probably benign Het
Bltp1 T A 3: 37,013,007 (GRCm39) C1895S probably damaging Het
Brd1 A T 15: 88,614,729 (GRCm39) D55E probably benign Het
Cachd1 A G 4: 100,809,280 (GRCm39) D255G probably benign Het
Ccdc168 A T 1: 44,097,425 (GRCm39) D1224E possibly damaging Het
Ces2f C A 8: 105,676,704 (GRCm39) P133T probably damaging Het
Cfap251 A T 5: 123,460,505 (GRCm39) M1156L possibly damaging Het
Clock GGCTGCTGCTGCTGCTGCTGCTGCTG GGCTGCTGCTGCTGCTGCTGCTG 5: 76,374,889 (GRCm39) probably benign Het
Cyp4f37 A T 17: 32,844,096 (GRCm39) I67F probably benign Het
Dbf4 T C 5: 8,448,656 (GRCm39) I84V Het
Dcc T C 18: 71,511,755 (GRCm39) T887A probably benign Het
Dnah7c A T 1: 46,671,504 (GRCm39) E1631V probably damaging Het
Dusp23 A G 1: 172,460,293 (GRCm39) C53R possibly damaging Het
Efcab6 G A 15: 83,928,432 (GRCm39) S54L probably damaging Het
Fcamr T C 1: 130,739,335 (GRCm39) F212L probably damaging Het
Gfap G C 11: 102,787,810 (GRCm39) A45G probably benign Het
Grm8 C T 6: 27,363,752 (GRCm39) V588M probably benign Het
H1f8 A G 6: 115,926,911 (GRCm39) T263A probably benign Het
Hoatz T A 9: 50,992,832 (GRCm39) probably null Het
Inhca T C 9: 103,149,831 (GRCm39) Y242C probably damaging Het
Malrd1 T A 2: 15,570,368 (GRCm39) probably null Het
Mxi1 G A 19: 53,360,126 (GRCm39) G283S probably damaging Het
Myh15 T C 16: 48,997,366 (GRCm39) V1728A probably benign Het
Nxph2 T A 2: 23,290,071 (GRCm39) V141D probably damaging Het
Or11l3 T C 11: 58,515,994 (GRCm39) E106G unknown Het
Or2t26 A T 11: 49,039,483 (GRCm39) Y133F probably damaging Het
Or4f6 A T 2: 111,838,596 (GRCm39) S312T possibly damaging Het
Or5b121 A T 19: 13,507,892 (GRCm39) N329I probably damaging Het
Or5d36 T A 2: 87,901,753 (GRCm39) probably null Het
Or5h25 A G 16: 58,930,121 (GRCm39) V284A Het
Or5w10 A T 2: 87,375,753 (GRCm39) M45K probably damaging Het
Or8c10 A G 9: 38,279,142 (GRCm39) N90S possibly damaging Het
Otof T A 5: 30,578,325 (GRCm39) I108F probably benign Het
Pcdha4 A T 18: 37,086,011 (GRCm39) R65* probably null Het
Pde11a T C 2: 76,041,434 (GRCm39) H412R probably benign Het
Peli3 C T 19: 4,982,541 (GRCm39) G375S probably damaging Het
Ppp6r3 A G 19: 3,561,927 (GRCm39) probably null Het
Prcp T C 7: 92,559,518 (GRCm39) V194A possibly damaging Het
Prkce T C 17: 86,476,370 (GRCm39) probably null Het
Prss23 A T 7: 89,159,887 (GRCm39) S61T probably benign Het
Ptprq C T 10: 107,535,469 (GRCm39) R432H probably damaging Het
Rnase2a T A 14: 51,493,101 (GRCm39) N88I possibly damaging Het
Rspry1 G T 8: 95,359,780 (GRCm39) L230F probably damaging Het
Slco1a8 A G 6: 141,927,810 (GRCm39) V548A probably damaging Het
Smpd2 A G 10: 41,365,301 (GRCm39) L65P probably benign Het
Sorl1 A G 9: 41,933,722 (GRCm39) Y1083H probably benign Het
Tjp1 A G 7: 64,986,386 (GRCm39) S241P probably damaging Het
Tmed6 A C 8: 107,792,164 (GRCm39) L27R probably damaging Het
Tmem52 G A 4: 155,553,788 (GRCm39) C32Y probably damaging Het
Tmprss15 C A 16: 78,750,834 (GRCm39) G1022* probably null Het
Ttn T C 2: 76,730,345 (GRCm39) S5085G unknown Het
Vmn2r37 C T 7: 9,209,854 (GRCm39) V553M possibly damaging Het
Wdr70 A T 15: 8,123,210 (GRCm39) M42K probably benign Het
Zfp735 T A 11: 73,602,510 (GRCm39) C485S possibly 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
R3774:Dhdh UTSW 7 45,131,362 (GRCm39) missense probably benign 0.06
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
R9653:Dhdh UTSW 7 45,128,551 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTAACTGTCTCCTAACCAGGCC -3'
(R):5'- TACCAAGCACAGCCTAAGTCTG -3'

Sequencing Primer
(F):5'- CGAGCCTGAGCCTTTCCAAAG -3'
(R):5'- AGCCTAAGTCTGCCCCC -3'
Posted On 2021-07-15