Incidental Mutation 'IGL03264:Dcxr'
ID415026
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? Possibly essential (E-score: 0.508) question?
Stock #IGL03264
Quality Score
Status
Chromosome11
Chromosomal Location120725399-120727281 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 120726472 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Aspartic acid at position 82 (N82D)
Ref Sequence ENSEMBL: ENSMUSP00000101754 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018156] [ENSMUST00000026144] [ENSMUST00000026148] [ENSMUST00000106148] [ENSMUST00000142229]
Predicted Effect probably benign
Transcript: ENSMUST00000018156
SMART Domains Protein: ENSMUSP00000018156
Gene: ENSMUSG00000018012

DomainStartEndE-ValueType
RHO 6 179 8.8e-139 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000026144
AA Change: N82D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026144
Gene: ENSMUSG00000039450
AA Change: N82D

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: N82D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101754
Gene: ENSMUSG00000039450
AA Change: N82D

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 benign
Transcript: ENSMUST00000142229
SMART Domains Protein: ENSMUSP00000119523
Gene: ENSMUSG00000018012

DomainStartEndE-ValueType
RHO 6 172 3.19e-127 SMART
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
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik A T 3: 37,002,635 I3152F probably damaging Het
9130019O22Rik A G 7: 127,385,639 probably benign Het
Abcg1 T G 17: 31,064,454 S38A probably benign Het
Alkbh1 T G 12: 87,431,427 D238A probably damaging Het
Arhgef17 A T 7: 100,880,013 D1531E probably benign Het
Cacng3 G T 7: 122,671,957 G62W probably damaging Het
Cdh22 T C 2: 165,116,173 I625V probably benign Het
Ces5a T C 8: 93,502,270 N444S possibly damaging Het
Chst13 A T 6: 90,309,211 Y256* probably null Het
Clcn5 T A X: 7,178,374 H177L probably benign Het
Dars G A 1: 128,413,690 R63C probably damaging Het
Dcun1d4 A G 5: 73,520,229 S84G probably benign Het
Eef1a2 C A 2: 181,148,734 K376N possibly damaging Het
Efhc1 G A 1: 20,967,491 M297I probably benign Het
Etfb G T 7: 43,452,473 V64F probably damaging Het
Fam135b A C 15: 71,462,788 N852K probably benign Het
Gigyf2 T C 1: 87,449,068 probably benign Het
Gm12794 A T 4: 101,941,132 Q100L probably damaging Het
Gria4 T C 9: 4,513,288 K274E probably benign Het
Itgae A G 11: 73,115,574 E356G possibly damaging Het
Med12l C T 3: 59,301,367 Q2139* probably null Het
Mrvi1 A T 7: 110,926,346 S200T probably benign Het
Plxna4 A G 6: 32,178,402 F1536L possibly damaging Het
Rmnd5a A G 6: 71,393,135 I389T probably damaging Het
Rnf128 T G X: 139,611,236 V144G probably damaging Het
Rpgrip1 A G 14: 52,140,652 T486A possibly damaging Het
Rps6kc1 T C 1: 190,871,829 T199A probably benign Het
Skint5 T A 4: 113,486,657 D1338V unknown Het
Slc35g2 A T 9: 100,552,646 I324K possibly damaging Het
Slc4a5 G A 6: 83,261,525 R225H probably damaging Het
Srgap3 A T 6: 112,816,675 H113Q probably damaging Het
Stpg2 A C 3: 139,309,209 K378N possibly damaging Het
Svep1 A G 4: 58,066,422 probably benign Het
Utp11 T C 4: 124,679,728 K218E probably damaging Het
Vmn2r53 T A 7: 12,581,892 I667F possibly damaging Het
Wdfy3 A G 5: 101,900,150 L1763P probably damaging Het
Wnt2 A G 6: 17,989,960 Y313H probably benign Het
Zfp638 T C 6: 83,946,247 S676P probably benign Het
Other mutations in Dcxr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01088:Dcxr APN 11 120726167 missense possibly damaging 0.75
IGL01516:Dcxr APN 11 120725758 unclassified probably null
IGL02151:Dcxr APN 11 120725983 missense probably benign 0.00
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
Posted On2016-08-02