Incidental Mutation 'IGL01516:Dcxr'
ID90394
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dcxr
Ensembl Gene ENSMUSG00000039450
Gene Namedicarbonyl L-xylulose reductase
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01516
Quality Score
Status
Chromosome11
Chromosomal Location120725399-120727281 bp(-) (GRCm38)
Type of Mutationunclassified (2152 bp from exon)
DNA Base Change (assembly) A to G at 120725758 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000119523 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018156] [ENSMUST00000026139] [ENSMUST00000026144] [ENSMUST00000026148] [ENSMUST00000106148] [ENSMUST00000142229] [ENSMUST00000145781]
Predicted Effect probably null
Transcript: ENSMUST00000018156
SMART Domains Protein: ENSMUSP00000018156
Gene: ENSMUSG00000018012

DomainStartEndE-ValueType
RHO 6 179 8.8e-139 SMART
Predicted Effect probably null
Transcript: ENSMUST00000026139
SMART Domains Protein: ENSMUSP00000026139
Gene: ENSMUSG00000025145

DomainStartEndE-ValueType
LRR 57 84 9.11e0 SMART
LRR 85 112 1.01e-1 SMART
Blast:LRR 113 142 4e-11 BLAST
LRR 143 170 4.47e-3 SMART
LRR 171 198 2.2e-2 SMART
LRR 199 226 1.66e2 SMART
coiled coil region 360 645 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000026144
AA Change: I204T

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000026144
Gene: ENSMUSG00000039450
AA Change: I204T

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 probably damaging
Transcript: ENSMUST00000106148
AA Change: I196T

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000101754
Gene: ENSMUSG00000039450
AA Change: I196T

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: ENSMUST00000134322
Predicted Effect probably null
Transcript: ENSMUST00000142229
SMART Domains Protein: ENSMUSP00000119523
Gene: ENSMUSG00000018012

DomainStartEndE-ValueType
RHO 6 172 3.19e-127 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000145781
SMART Domains Protein: ENSMUSP00000123038
Gene: ENSMUSG00000025145

DomainStartEndE-ValueType
LRR 57 84 9.11e0 SMART
LRR 85 112 1.01e-1 SMART
Blast:LRR 113 142 1e-10 BLAST
LRR 143 170 4.47e-3 SMART
LRR 171 198 2.2e-2 SMART
LRR 199 226 1.66e2 SMART
coiled coil region 360 399 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149450
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 noncoding transcript
Transcript: ENSMUST00000155187
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921517D22Rik A G 13: 59,690,734 S95P probably benign Het
Abca6 T A 11: 110,218,217 H709L possibly damaging Het
BC051142 A G 17: 34,449,260 D168G possibly damaging Het
Bpifb1 A G 2: 154,218,252 Y455C probably benign Het
Clk1 G A 1: 58,414,404 T341I probably damaging Het
Corin A T 5: 72,454,487 Y77* probably null Het
Cps1 C T 1: 67,230,284 R1481C probably damaging Het
Cspg5 A G 9: 110,246,693 K166E probably benign Het
Epha5 C A 5: 84,386,276 L65F probably damaging Het
Erbb4 T A 1: 68,328,245 K438* probably null Het
Gldc A T 19: 30,099,032 C1005S probably damaging Het
Hs3st5 C T 10: 36,833,051 T194I probably damaging Het
Hspa12a T A 19: 58,827,676 D45V probably benign Het
Il1rn C T 2: 24,349,539 T130I probably damaging Het
Klk1b22 G T 7: 44,116,308 C196F probably damaging Het
Lamp1 C T 8: 13,173,863 H332Y probably damaging Het
Limd2 T C 11: 106,159,044 T40A probably benign Het
Lztr1 G A 16: 17,522,391 probably null Het
Mbd4 T C 6: 115,849,530 T167A probably damaging Het
Mitf T A 6: 98,010,390 probably null Het
Mlph A G 1: 90,939,390 D378G probably damaging Het
Mrgprb5 A T 7: 48,168,384 L201Q probably damaging Het
Myo5b A T 18: 74,627,195 I261F probably damaging Het
Olfr1413 A T 1: 92,573,443 I91F probably benign Het
Olfr918 C T 9: 38,672,863 V207I probably benign Het
Paics T A 5: 76,956,731 L68I probably damaging Het
Pramef20 A G 4: 144,377,767 V56A probably damaging Het
Prkca C T 11: 107,961,602 V102M probably null Het
Ptpn21 G A 12: 98,715,189 T62I probably damaging Het
Ptpre A T 7: 135,664,999 E212V probably damaging Het
Rufy2 A C 10: 63,011,433 K539Q possibly damaging Het
Serpinb9d T A 13: 33,202,671 probably null Het
Smarcd1 T C 15: 99,712,213 F442L probably benign Het
Tas2r115 A G 6: 132,737,613 V125A probably damaging Het
Tmem154 C T 3: 84,684,590 H120Y probably benign Het
Tnrc6b A G 15: 80,902,622 K1321E possibly damaging Het
Trmt13 A G 3: 116,589,810 probably benign Het
Vmn1r19 T C 6: 57,404,872 F137L probably benign Het
Vmn1r202 T A 13: 22,501,462 T262S possibly damaging Het
Vmn2r57 A G 7: 41,399,946 V793A probably damaging Het
Wapl A G 14: 34,692,081 N300S probably damaging Het
Xpot T A 10: 121,590,222 probably null Het
Zfp784 G A 7: 5,036,037 probably benign Het
Zfyve26 G T 12: 79,287,851 P131Q probably benign Het
Other mutations in Dcxr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01088:Dcxr APN 11 120726167 missense possibly damaging 0.75
IGL02151:Dcxr APN 11 120725983 missense probably benign 0.00
IGL03264:Dcxr APN 11 120726472 missense probably damaging 1.00
R0890:Dcxr UTSW 11 120726471 missense probably damaging 1.00
R1325:Dcxr UTSW 11 120726555 unclassified probably null
R1808:Dcxr UTSW 11 120725612 splice site probably null
R2099:Dcxr UTSW 11 120725577 missense probably damaging 1.00
R2102:Dcxr UTSW 11 120726307 missense probably benign 0.08
R4602:Dcxr UTSW 11 120726304 missense possibly damaging 0.49
R4772:Dcxr UTSW 11 120726097 missense probably benign 0.00
R5028:Dcxr UTSW 11 120726447 missense probably damaging 0.97
R5219:Dcxr UTSW 11 120725488 unclassified probably benign
R5336:Dcxr UTSW 11 120727176 critical splice donor site probably null
R5518:Dcxr UTSW 11 120726199 unclassified probably benign
R6613:Dcxr UTSW 11 120727006 missense probably benign 0.00
R6833:Dcxr UTSW 11 120726091 missense probably damaging 1.00
R7042:Dcxr UTSW 11 120727015 missense possibly damaging 0.66
R7531:Dcxr UTSW 11 120727006 missense probably benign 0.00
R7633:Dcxr UTSW 11 120726453 missense probably benign 0.00
R7710:Dcxr UTSW 11 120727082 missense probably benign 0.08
Z1176:Dcxr UTSW 11 120727208 frame shift probably null
Posted On2013-12-09