Incidental Mutation 'R0890:Dhdh'
ID 83467
Institutional Source Beutler Lab
Gene Symbol Dhdh
Ensembl Gene ENSMUSG00000011382
Gene Name dihydrodiol dehydrogenase
Synonyms Xld1, Xld-1, 1300018L09Rik, B830008H07Rik
MMRRC Submission 039053-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R0890 (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 C at 45131395 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 146 (D146G)
Ref Sequence ENSEMBL: ENSMUSP00000011526 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000011526] [ENSMUST00000107758] [ENSMUST00000107759] [ENSMUST00000210813]
AlphaFold Q9DBB8
Predicted Effect possibly damaging
Transcript: ENSMUST00000011526
AA Change: D146G

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000011526
Gene: ENSMUSG00000011382
AA Change: D146G

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: D47G
Predicted Effect probably benign
Transcript: ENSMUST00000210813
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211413
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.1%
  • 20x: 94.0%
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 T C 7: 119,972,936 (GRCm39) S837P probably benign Het
Cdh24 A G 14: 54,870,051 (GRCm39) V240A probably benign Het
Clcn4 T C 7: 7,291,964 (GRCm39) T556A possibly damaging Het
Coa7 G A 4: 108,195,583 (GRCm39) A171T probably damaging Het
Col12a1 A T 9: 79,607,684 (GRCm39) S381R probably damaging Het
Col9a3 C T 2: 180,251,856 (GRCm39) P335L probably benign Het
Dcxr T A 11: 120,617,297 (GRCm39) N82I probably damaging Het
Dhrs13 T A 11: 77,925,176 (GRCm39) L99Q probably null Het
Dnai1 C T 4: 41,604,253 (GRCm39) T220M possibly damaging Het
Gapvd1 T A 2: 34,602,329 (GRCm39) D606V probably damaging Het
Gcn1 T G 5: 115,717,852 (GRCm39) C246G possibly damaging Het
Gdf10 A G 14: 33,654,113 (GRCm39) K207E possibly damaging Het
Gucy2d T C 7: 98,122,472 (GRCm39) V1046A probably benign Het
Itpr3 C A 17: 27,307,985 (GRCm39) Y257* probably null Het
Kifc5b C T 17: 27,141,996 (GRCm39) T158M possibly damaging Het
Klra7 C T 6: 130,195,916 (GRCm39) D251N probably benign Het
Mesp1 T C 7: 79,442,683 (GRCm39) D198G probably benign Het
Mrgprb8 T A 7: 48,038,777 (GRCm39) C149* probably null Het
Nphp4 C A 4: 152,582,677 (GRCm39) L169I possibly damaging Het
Or1j1 T A 2: 36,702,586 (GRCm39) T173S probably benign Het
Or52p2 C A 7: 102,237,408 (GRCm39) E181* probably null Het
Or5h17 T A 16: 58,820,150 (GRCm39) I34K possibly damaging Het
Pcgf5 A T 19: 36,389,544 (GRCm39) H7L probably benign Het
Polr3b A C 10: 84,550,200 (GRCm39) K970T probably benign Het
Pomgnt1 A G 4: 116,009,382 (GRCm39) D93G probably benign Het
Rnf213 A G 11: 119,321,312 (GRCm39) K1256E possibly damaging Het
Scn9a T C 2: 66,314,079 (GRCm39) T1869A probably damaging Het
Setdb2 A G 14: 59,656,669 (GRCm39) V232A possibly damaging Het
Sh3d21 T C 4: 126,044,945 (GRCm39) E578G probably damaging Het
Tmem168 A T 6: 13,603,271 (GRCm39) S32T probably damaging Het
Vmn1r38 T G 6: 66,753,514 (GRCm39) I201L probably benign Het
Wfs1 C A 5: 37,132,888 (GRCm39) W130C 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
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
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 PCR Primer
(F):5'- TCAGCCGAGACTACGAAGTACCTG -3'
(R):5'- GACAGTTGGTACATGAAACCTGGGG -3'

Sequencing Primer
(F):5'- TGGCTTCTGTGCACCAAAGA -3'
(R):5'- TCAAGAAGGACCTTGTATTGGG -3'
Posted On 2013-11-08