Incidental Mutation 'R5837:Nudt1'
ID 449642
Institutional Source Beutler Lab
Gene Symbol Nudt1
Ensembl Gene ENSMUSG00000036639
Gene Name nudix hydrolase 1
Synonyms nudix (nucleoside diphosphate linked moiety X)-type motif 1, 8-oxo-7,8-dihydro-2'-dGTPase, Mth1
MMRRC Submission 044057-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5837 (G1)
Quality Score 176
Status Validated
Chromosome 5
Chromosomal Location 140307411-140323892 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 140320295 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 25 (R25G)
Ref Sequence ENSEMBL: ENSMUSP00000106449 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031536] [ENSMUST00000050205] [ENSMUST00000071881] [ENSMUST00000110825] [ENSMUST00000110826] [ENSMUST00000110827] [ENSMUST00000198660]
AlphaFold P53368
Predicted Effect probably benign
Transcript: ENSMUST00000031536
SMART Domains Protein: ENSMUSP00000031536
Gene: ENSMUSG00000029557

DomainStartEndE-ValueType
Pfam:FtsJ 52 237 8e-52 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000050205
AA Change: R25G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000059983
Gene: ENSMUSG00000036639
AA Change: R25G

DomainStartEndE-ValueType
Pfam:NUDIX 4 130 6.2e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000071881
AA Change: R25G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000071778
Gene: ENSMUSG00000036639
AA Change: R25G

DomainStartEndE-ValueType
Pfam:NUDIX 4 130 1.2e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000110825
AA Change: R25G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000106449
Gene: ENSMUSG00000036639
AA Change: R25G

DomainStartEndE-ValueType
Pfam:NUDIX 4 103 4.4e-15 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000110826
AA Change: R25G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000106450
Gene: ENSMUSG00000036639
AA Change: R25G

DomainStartEndE-ValueType
Pfam:NUDIX 4 130 1.2e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000110827
AA Change: R25G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000106451
Gene: ENSMUSG00000036639
AA Change: R25G

DomainStartEndE-ValueType
Pfam:NUDIX 4 130 1.2e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145898
SMART Domains Protein: ENSMUSP00000120347
Gene: ENSMUSG00000036639

DomainStartEndE-ValueType
Pfam:NUDIX 1 64 1.4e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000198660
AA Change: R25G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000143140
Gene: ENSMUSG00000036639
AA Change: R25G

DomainStartEndE-ValueType
Pfam:NUDIX 4 112 2.1e-15 PFAM
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.6%
Validation Efficiency 99% (72/73)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Misincorporation of oxidized nucleoside triphosphates into DNA/RNA during replication and transcription can cause mutations that may result in carcinogenesis or neurodegeneration. The protein encoded by this gene is an enzyme that hydrolyzes oxidized purine nucleoside triphosphates, such as 8-oxo-dGTP, 8-oxo-dATP, 2-hydroxy-dATP, and 2-hydroxy rATP, to monophosphates, thereby preventing misincorporation. The encoded protein is localized mainly in the cytoplasm, with some in the mitochondria, suggesting that it is involved in the sanitization of nucleotide pools both for nuclear and mitochondrial genomes. Several alternatively spliced transcript variants, some of which encode distinct isoforms, have been identified. Additional variants have been observed, but their full-length natures have not been determined. A single-nucleotide polymorphism that results in the production of an additional, longer isoform (p26) has been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Aging mice homozygous for a knock-out allele show increased incidence of tumor formation in the lung, liver and stomach. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 G A 2: 25,323,371 (GRCm39) R113Q probably benign Het
Ank1 A G 8: 23,594,806 (GRCm39) N605D probably damaging Het
Apob A G 12: 8,053,277 (GRCm39) M1240V probably benign Het
Atf1 T A 15: 100,152,265 (GRCm39) I86N probably damaging Het
Best1 T A 19: 9,966,483 (GRCm39) probably null Het
Bet1l C A 7: 140,434,694 (GRCm39) R51L probably benign Het
Bpifa5 A G 2: 154,005,598 (GRCm39) Y60C probably damaging Het
Ccdc141 G T 2: 76,938,781 (GRCm39) Q275K possibly damaging Het
Cep295 T A 9: 15,258,280 (GRCm39) H241L probably damaging Het
Commd7 A G 2: 153,471,144 (GRCm39) V36A possibly damaging Het
Cyld G A 8: 89,468,032 (GRCm39) S555N probably damaging Het
Cyp2j13 A T 4: 95,959,919 (GRCm39) I79N probably damaging Het
Dact2 A G 17: 14,416,515 (GRCm39) S562P probably damaging Het
Dnajc13 T A 9: 104,053,865 (GRCm39) I1664F possibly damaging Het
Ehmt1 A G 2: 24,753,926 (GRCm39) V277A probably damaging Het
Fbn1 A T 2: 125,221,054 (GRCm39) probably null Het
Galnt6 G A 15: 100,592,527 (GRCm39) T560M possibly damaging Het
Glra1 G T 11: 55,427,333 (GRCm39) probably null Het
Gm10762 C T 2: 128,809,077 (GRCm39) probably benign Het
Greb1 C T 12: 16,738,586 (GRCm39) R1459H probably damaging Het
Ift140 A G 17: 25,308,514 (GRCm39) K1048E probably damaging Het
Ilk T C 7: 105,390,378 (GRCm39) probably null Het
Lgi4 C T 7: 30,770,208 (GRCm39) probably benign Het
Loxhd1 A G 18: 77,374,105 (GRCm39) T59A possibly damaging Het
Lzic G T 4: 149,570,457 (GRCm39) probably null Het
Mef2d A G 3: 88,069,088 (GRCm39) T286A probably benign Het
Mycbp2 C A 14: 103,361,839 (GRCm39) C4447F probably damaging Het
Ncoa2 A G 1: 13,294,930 (GRCm39) probably benign Het
Nolc1 T C 19: 46,071,622 (GRCm39) probably benign Het
Npl T C 1: 153,379,271 (GRCm39) T271A probably benign Het
Nudt19 T C 7: 35,251,061 (GRCm39) E226G possibly damaging Het
Oc90 T C 15: 65,748,295 (GRCm39) D405G probably benign Het
Or10q1b T A 19: 13,682,324 (GRCm39) C44* probably null Het
Or1e1c A G 11: 73,266,474 (GRCm39) M300V probably benign Het
Or5as1 A T 2: 86,980,699 (GRCm39) F102Y probably benign Het
Or9k2b A T 10: 130,016,266 (GRCm39) L161H probably damaging Het
Pcdhb1 T C 18: 37,398,880 (GRCm39) I277T possibly damaging Het
Pcdhb9 C A 18: 37,535,851 (GRCm39) A615E probably damaging Het
Phrf1 C G 7: 140,839,974 (GRCm39) D1056E probably benign Het
Phyhip C A 14: 70,704,450 (GRCm39) A223E probably damaging Het
Polr2h T A 16: 20,536,682 (GRCm39) I4N probably damaging Het
Ppp1r12c C A 7: 4,500,403 (GRCm39) probably benign Het
Pramel11 A G 4: 143,623,490 (GRCm39) V228A probably benign Het
Psg17 T A 7: 18,554,140 (GRCm39) T37S possibly damaging Het
Ptprz1 T C 6: 23,001,417 (GRCm39) V1169A probably benign Het
Rabgap1l T C 1: 160,134,792 (GRCm39) probably benign Het
Rapgef3 C T 15: 97,655,223 (GRCm39) probably benign Het
Rbp3 C A 14: 33,676,230 (GRCm39) H59Q probably benign Het
Robo3 T A 9: 37,341,112 (GRCm39) probably null Het
Slco4c1 C T 1: 96,746,707 (GRCm39) E712K probably benign Het
Ssh3 T C 19: 4,316,428 (GRCm39) T168A probably benign Het
Stoml2 G T 4: 43,028,989 (GRCm39) N248K probably damaging Het
Tmigd1 A G 11: 76,806,911 (GRCm39) probably benign Het
Tnc T A 4: 63,931,451 (GRCm39) D753V probably damaging Het
Tnik A T 3: 28,722,202 (GRCm39) probably benign Het
Treml1 A G 17: 48,667,180 (GRCm39) S22G possibly damaging Het
Trmt2a C T 16: 18,067,326 (GRCm39) probably benign Het
Ttn T C 2: 76,547,718 (GRCm39) T32151A probably damaging Het
Utp25 A T 1: 192,800,701 (GRCm39) F373Y probably damaging Het
Vmn1r67 T C 7: 10,180,949 (GRCm39) I10T probably benign Het
Vmn2r116 T C 17: 23,606,054 (GRCm39) F322S probably damaging Het
Wdr19 A G 5: 65,360,300 (GRCm39) D35G probably benign Het
Zfp365 A T 10: 67,724,870 (GRCm39) H339Q probably damaging Het
Zfp677 A T 17: 21,617,648 (GRCm39) H235L probably damaging Het
Zpbp2 G A 11: 98,442,097 (GRCm39) probably benign Het
Other mutations in Nudt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00584:Nudt1 APN 5 140,323,465 (GRCm39) missense probably damaging 1.00
IGL02171:Nudt1 APN 5 140,323,348 (GRCm39) missense probably damaging 1.00
R0830:Nudt1 UTSW 5 140,321,076 (GRCm39) splice site probably null
R1676:Nudt1 UTSW 5 140,320,378 (GRCm39) splice site probably null
R5073:Nudt1 UTSW 5 140,317,662 (GRCm39) splice site probably null
R7211:Nudt1 UTSW 5 140,323,402 (GRCm39) missense possibly damaging 0.61
Predicted Primers PCR Primer
(F):5'- AGAATGTATCTCCCTCCCACC -3'
(R):5'- GCAGAGGCATTGCTATAACTAGTTG -3'

Sequencing Primer
(F):5'- CTGGCCACAACAGAACTCATATGATG -3'
(R):5'- CATGGTCTACATAGCATCGGTCAG -3'
Posted On 2016-12-20