Incidental Mutation 'R6607:Dut'
ID 525725
Institutional Source Beutler Lab
Gene Symbol Dut
Ensembl Gene ENSMUSG00000027203
Gene Name deoxyuridine triphosphatase
Synonyms 5031412I06Rik, 5133400F09Rik, D2Bwg0749e, Dutp, dUTPase
MMRRC Submission 044730-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.969) question?
Stock # R6607 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 125089110-125100528 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 125098787 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 140 (D140G)
Ref Sequence ENSEMBL: ENSMUSP00000080767 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051605] [ENSMUST00000082122]
AlphaFold Q8VCG1
Predicted Effect probably damaging
Transcript: ENSMUST00000051605
AA Change: D102G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000057854
Gene: ENSMUSG00000027203
AA Change: D102G

DomainStartEndE-ValueType
low complexity region 7 18 N/A INTRINSIC
Pfam:dUTPase 31 160 1.2e-50 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000082122
AA Change: D140G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000080767
Gene: ENSMUSG00000027203
AA Change: D140G

DomainStartEndE-ValueType
low complexity region 3 56 N/A INTRINSIC
Pfam:dUTPase 69 198 1.6e-52 PFAM
Meta Mutation Damage Score 0.8806 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
Validation Efficiency 96% (27/28)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an essential enzyme of nucleotide metabolism. The encoded protein forms a ubiquitous, homotetrameric enzyme that hydrolyzes dUTP to dUMP and pyrophosphate. This reaction serves two cellular purposes: providing a precursor (dUMP) for the synthesis of thymine nucleotides needed for DNA replication, and limiting intracellular pools of dUTP. Elevated levels of dUTP lead to increased incorporation of uracil into DNA, which induces extensive excision repair mediated by uracil glycosylase. This repair process, resulting in the removal and reincorporation of dUTP, is self-defeating and leads to DNA fragmentation and cell death. Alternative splicing of this gene leads to different isoforms that localize to either the mitochondrion or nucleus. A related pseudogene is located on chromosome 19. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4galt T C 15: 83,112,507 (GRCm39) D92G possibly damaging Het
Ace A T 11: 105,863,203 (GRCm39) H326L possibly damaging Het
Adtrp A G 13: 41,931,087 (GRCm39) F167L probably benign Het
Agbl2 A G 2: 90,631,670 (GRCm39) T343A probably damaging Het
Cacna1a A T 8: 85,306,121 (GRCm39) I1290F probably damaging Het
Cdh4 G A 2: 179,515,889 (GRCm39) V356I probably benign Het
Celsr1 A G 15: 85,847,486 (GRCm39) V1417A probably benign Het
Ctbs A G 3: 146,163,128 (GRCm39) D172G possibly damaging Het
Dnah5 A G 15: 28,445,346 (GRCm39) T4161A possibly damaging Het
Ep400 T C 5: 110,831,180 (GRCm39) D2162G unknown Het
Esyt2 G A 12: 116,332,360 (GRCm39) D781N probably benign Het
Fam174b T C 7: 73,416,312 (GRCm39) L135P probably damaging Het
Fbxo15 A T 18: 84,977,270 (GRCm39) T106S possibly damaging Het
Foxq1 A G 13: 31,743,129 (GRCm39) D77G possibly damaging Het
Gclm G A 3: 122,049,264 (GRCm39) probably null Het
Gcn1 T A 5: 115,747,537 (GRCm39) S1677T probably damaging Het
Hamp2 T A 7: 30,622,013 (GRCm39) R59* probably null Het
Herc1 C T 9: 66,325,849 (GRCm39) A1441V probably benign Het
Lrp1 G A 10: 127,396,005 (GRCm39) H2422Y probably damaging Het
Rbks C T 5: 31,805,136 (GRCm39) V243M possibly damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rsf1 CG CGACGGCGGTG 7: 97,229,115 (GRCm39) probably benign Homo
Slc17a4 T C 13: 24,089,397 (GRCm39) probably null Het
Slc29a1 A C 17: 45,899,853 (GRCm39) probably null Het
Tenm2 A G 11: 35,954,602 (GRCm39) probably null Het
Tmem26 T A 10: 68,614,543 (GRCm39) H319Q probably benign Het
Vmn1r203 A G 13: 22,708,891 (GRCm39) Y224C probably benign Het
Vmn1r223 T C 13: 23,433,919 (GRCm39) I171T probably damaging Het
Vmn2r101 T C 17: 19,832,296 (GRCm39) L764S probably damaging Het
Vmn2r84 T C 10: 130,226,731 (GRCm39) H369R possibly damaging Het
Other mutations in Dut
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0268:Dut UTSW 2 125,099,011 (GRCm39) missense probably damaging 1.00
R1083:Dut UTSW 2 125,089,748 (GRCm39) frame shift probably null
R6446:Dut UTSW 2 125,092,939 (GRCm39) critical splice donor site probably null
R6888:Dut UTSW 2 125,099,044 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- GGAAATGCTCACCACTTGATAAGC -3'
(R):5'- TACCATCGCTGTGTACTGAC -3'

Sequencing Primer
(F):5'- TGCTCACCACTTGATAAGCATTCAG -3'
(R):5'- GTGTACTGACCCATTTTCTGTAAC -3'
Posted On 2018-06-22