Incidental Mutation 'R6446:Dut'
ID 519178
Institutional Source Beutler Lab
Gene Symbol Dut
Ensembl Gene ENSMUSG00000027203
Gene Name deoxyuridine triphosphatase
Synonyms 5031412I06Rik, 5133400F09Rik, D2Bwg0749e, Dutp, dUTPase
MMRRC Submission 044583-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.969) question?
Stock # R6446 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 125089110-125100528 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 125092939 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000080767 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051605] [ENSMUST00000082122]
AlphaFold Q8VCG1
Predicted Effect probably null
Transcript: ENSMUST00000051605
SMART Domains Protein: ENSMUSP00000057854
Gene: ENSMUSG00000027203

DomainStartEndE-ValueType
low complexity region 7 18 N/A INTRINSIC
Pfam:dUTPase 31 160 1.2e-50 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000082122
SMART Domains Protein: ENSMUSP00000080767
Gene: ENSMUSG00000027203

DomainStartEndE-ValueType
low complexity region 3 56 N/A INTRINSIC
Pfam:dUTPase 69 198 1.6e-52 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133211
Meta Mutation Damage Score 0.9496 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 93.9%
Validation Efficiency 97% (36/37)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp13a3 A G 16: 30,180,687 (GRCm39) L114P probably benign Het
Blm GCCTCCTCCTCCTCCTCCTCCTCCTCCTCC GCCTCCTCCTCCTCCTCCTCCTCCTCC 7: 80,162,652 (GRCm39) probably benign Het
Catsperg1 T C 7: 28,905,992 (GRCm39) I196V probably benign Het
Cbx2 T A 11: 118,918,752 (GRCm39) S106T probably benign Het
Ccar2 T A 14: 70,380,518 (GRCm39) E354V probably benign Het
Ccr1 A G 9: 123,764,143 (GRCm39) I129T probably damaging Het
Cdkl2 T A 5: 92,181,076 (GRCm39) I188F probably damaging Het
Cep350 T C 1: 155,737,900 (GRCm39) N2648D probably benign Het
Chtf18 A G 17: 25,940,218 (GRCm39) S658P probably benign Het
Csnka2ip G A 16: 64,299,744 (GRCm39) Q207* probably null Het
Dennd5a A G 7: 109,493,873 (GRCm39) L1253P probably damaging Het
Dennd6a T A 14: 26,350,689 (GRCm39) I374K probably damaging Het
Gcm1 T C 9: 77,967,065 (GRCm39) Y95H probably benign Het
Grid2 A T 6: 64,322,577 (GRCm39) I526F probably damaging Het
Hectd4 T A 5: 121,472,438 (GRCm39) Y2725N possibly damaging Het
Helq A T 5: 100,916,250 (GRCm39) N907K possibly damaging Het
Hpse G A 5: 100,843,435 (GRCm39) Q246* probably null Het
Iigp1c A G 18: 60,378,840 (GRCm39) D125G probably damaging Het
Kcnj15 C T 16: 95,097,118 (GRCm39) H247Y probably benign Het
Kif27 C A 13: 58,493,530 (GRCm39) V138F probably damaging Het
Map7 T G 10: 20,153,979 (GRCm39) D698E unknown Het
Mtmr11 A T 3: 96,078,504 (GRCm39) S687C probably benign Het
Ncbp2 CGTCTGGATG CG 16: 31,775,161 (GRCm39) probably null Het
Nup210l G A 3: 90,079,375 (GRCm39) G953E probably damaging Het
Or14c45 T A 7: 86,176,310 (GRCm39) I115N possibly damaging Het
Piezo2 G T 18: 63,219,678 (GRCm39) P792T probably damaging Het
Pld3 T C 7: 27,237,156 (GRCm39) D241G probably damaging Het
Prss35 G T 9: 86,637,706 (GRCm39) V159F probably damaging Het
Rimbp3 A T 16: 17,030,793 (GRCm39) M1406L probably benign Het
Serpina3g T C 12: 104,205,341 (GRCm39) F27L probably damaging Het
Setd1b G A 5: 123,299,862 (GRCm39) probably benign Het
Sh3glb1 T C 3: 144,411,366 (GRCm39) K13E probably damaging Het
Slc29a1 A T 17: 45,900,171 (GRCm39) I217N possibly damaging Het
Spag17 A T 3: 100,010,448 (GRCm39) T1981S probably benign Het
Svil A C 18: 5,057,323 (GRCm39) E590D probably benign Het
Synm A G 7: 67,384,714 (GRCm39) S541P probably damaging Het
Vmn2r108 A T 17: 20,692,609 (GRCm39) Y82* probably null 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
R6607:Dut UTSW 2 125,098,787 (GRCm39) missense probably damaging 1.00
R6888:Dut UTSW 2 125,099,044 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TCTGCAAGTCATGTGGTCGG -3'
(R):5'- TAGCCACACAGAAGGTTTTCC -3'

Sequencing Primer
(F):5'- GGCTATACAGAGAAACCCTGTCTTG -3'
(R):5'- TGCAGTAAGGTGTAGATTATCAGGAC -3'
Posted On 2018-05-24