Incidental Mutation 'IGL01088:Dcxr'
ID 52261
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dcxr
Ensembl Gene ENSMUSG00000039450
Gene Name dicarbonyl L-xylulose reductase
Synonyms 1810027P18Rik, 0610038K04Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01088
Quality Score
Status
Chromosome 11
Chromosomal Location 120616225-120618107 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 120616993 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 123 (I123M)
Ref Sequence ENSEMBL: ENSMUSP00000101754 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018156] [ENSMUST00000026144] [ENSMUST00000026148] [ENSMUST00000106148] [ENSMUST00000142229]
AlphaFold Q91X52
Predicted Effect probably benign
Transcript: ENSMUST00000018156
SMART Domains Protein: ENSMUSP00000018156
Gene: ENSMUSG00000018012

DomainStartEndE-ValueType
RHO 6 179 8.8e-139 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000026144
AA Change: I123M

PolyPhen 2 Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000026144
Gene: ENSMUSG00000039450
AA Change: I123M

DomainStartEndE-ValueType
Pfam:adh_short 8 195 8.9e-51 PFAM
Pfam:KR 9 175 7.1e-9 PFAM
Pfam:Epimerase 10 227 2.3e-7 PFAM
Pfam:adh_short_C2 14 242 6.3e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000026148
SMART Domains Protein: ENSMUSP00000026148
Gene: ENSMUSG00000025150

DomainStartEndE-ValueType
Pfam:KR 9 178 8.5e-8 PFAM
Pfam:adh_short 9 195 4.6e-55 PFAM
Pfam:adh_short_C2 14 242 9.4e-31 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000106148
AA Change: I123M

PolyPhen 2 Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000101754
Gene: ENSMUSG00000039450
AA Change: I123M

DomainStartEndE-ValueType
Pfam:adh_short 8 151 2.1e-22 PFAM
Pfam:KR 9 151 4.7e-7 PFAM
Pfam:NAD_binding_10 11 182 3.9e-9 PFAM
Pfam:adh_short_C2 14 150 2.2e-8 PFAM
Pfam:adh_short_C2 157 234 4e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122883
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125242
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149450
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134322
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154479
Predicted Effect probably benign
Transcript: ENSMUST00000154565
SMART Domains Protein: ENSMUSP00000117739
Gene: ENSMUSG00000025150

DomainStartEndE-ValueType
Pfam:adh_short 1 45 6.2e-10 PFAM
Pfam:adh_short_C2 33 154 9.7e-18 PFAM
Pfam:adh_short 41 123 2.2e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000142229
SMART Domains Protein: ENSMUSP00000119523
Gene: ENSMUSG00000018012

DomainStartEndE-ValueType
RHO 6 172 3.19e-127 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene acts as a homotetramer to catalyze diacetyl reductase and L-xylulose reductase reactions. The encoded protein may play a role in the uronate cycle of glucose metabolism and in the cellular osmoregulation in the proximal renal tubules. Defects in this gene are a cause of pentosuria. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2010]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr6 C T 10: 89,561,703 (GRCm39) V148I probably damaging Het
Aspn G T 13: 49,720,029 (GRCm39) K348N probably benign Het
C1qtnf9 T C 14: 61,017,205 (GRCm39) V245A probably benign Het
Cfhr4 T C 1: 139,625,823 (GRCm39) probably benign Het
Chd4 T C 6: 125,099,431 (GRCm39) probably benign Het
Clcn3 A T 8: 61,390,381 (GRCm39) C187S probably damaging Het
Fstl1 T C 16: 37,647,175 (GRCm39) Y182H probably damaging Het
Ghrhr T C 6: 55,356,178 (GRCm39) probably null Het
Gpr179 T C 11: 97,228,627 (GRCm39) E1176G probably damaging Het
H2-T22 A G 17: 36,352,811 (GRCm39) S99P probably damaging Het
Igkv4-79 T A 6: 69,020,110 (GRCm39) K68N probably damaging Het
Kpna6 C T 4: 129,549,276 (GRCm39) V169I probably damaging Het
Krit1 G T 5: 3,862,844 (GRCm39) V278F probably damaging Het
Mrpl4 T C 9: 20,914,627 (GRCm39) S68P probably damaging Het
Mylk3 A C 8: 86,078,586 (GRCm39) probably null Het
Nfasc A T 1: 132,570,514 (GRCm39) probably benign Het
Ntsr1 T C 2: 180,184,335 (GRCm39) F346S probably damaging Het
Or10ak11 A G 4: 118,686,989 (GRCm39) V216A probably benign Het
Or5b107 T C 19: 13,142,735 (GRCm39) M119T probably damaging Het
Phox2a T C 7: 101,470,942 (GRCm39) F145L probably damaging Het
Rbm7 A G 9: 48,402,149 (GRCm39) V146A probably damaging Het
Sall3 A T 18: 81,016,447 (GRCm39) Y494N probably damaging Het
Ssbp1 T A 6: 40,455,004 (GRCm39) probably benign Het
Stard7 T C 2: 127,112,746 (GRCm39) L4P probably damaging Het
Stk-ps2 A T 1: 46,069,010 (GRCm39) noncoding transcript Het
Tmem67 G A 4: 12,063,126 (GRCm39) R507C probably damaging Het
Unc13c A T 9: 73,839,563 (GRCm39) D429E possibly damaging Het
Unc93b1 A G 19: 3,985,356 (GRCm39) probably null Het
Vmn1r171 T C 7: 23,332,252 (GRCm39) V159A probably damaging Het
Zfp608 T C 18: 55,031,159 (GRCm39) E927G probably benign Het
Zfp820 T A 17: 22,040,162 (GRCm39) K16* probably null Het
Zgrf1 T C 3: 127,381,790 (GRCm39) probably benign Het
Other mutations in Dcxr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01516:Dcxr APN 11 120,616,584 (GRCm39) splice site probably null
IGL02151:Dcxr APN 11 120,616,809 (GRCm39) missense probably benign 0.00
IGL03264:Dcxr APN 11 120,617,298 (GRCm39) missense probably damaging 1.00
R0890:Dcxr UTSW 11 120,617,297 (GRCm39) missense probably damaging 1.00
R1325:Dcxr UTSW 11 120,617,381 (GRCm39) splice site probably null
R1808:Dcxr UTSW 11 120,616,438 (GRCm39) splice site probably null
R2099:Dcxr UTSW 11 120,616,403 (GRCm39) missense probably damaging 1.00
R2102:Dcxr UTSW 11 120,617,133 (GRCm39) missense probably benign 0.08
R4602:Dcxr UTSW 11 120,617,130 (GRCm39) missense possibly damaging 0.49
R4772:Dcxr UTSW 11 120,616,923 (GRCm39) missense probably benign 0.00
R5028:Dcxr UTSW 11 120,617,273 (GRCm39) missense probably damaging 0.97
R5219:Dcxr UTSW 11 120,616,314 (GRCm39) unclassified probably benign
R5336:Dcxr UTSW 11 120,618,002 (GRCm39) critical splice donor site probably null
R5518:Dcxr UTSW 11 120,617,025 (GRCm39) unclassified probably benign
R6613:Dcxr UTSW 11 120,617,832 (GRCm39) missense probably benign 0.00
R6833:Dcxr UTSW 11 120,616,917 (GRCm39) missense probably damaging 1.00
R7042:Dcxr UTSW 11 120,617,841 (GRCm39) missense possibly damaging 0.66
R7531:Dcxr UTSW 11 120,617,832 (GRCm39) missense probably benign 0.00
R7633:Dcxr UTSW 11 120,617,279 (GRCm39) missense probably benign 0.00
R7710:Dcxr UTSW 11 120,617,908 (GRCm39) missense probably benign 0.08
R9128:Dcxr UTSW 11 120,617,372 (GRCm39) missense
R9800:Dcxr UTSW 11 120,618,084 (GRCm39) unclassified probably benign
Z1176:Dcxr UTSW 11 120,618,034 (GRCm39) frame shift probably null
Posted On 2013-06-21