Incidental Mutation 'R3846:Nudt15'
ID 277391
Institutional Source Beutler Lab
Gene Symbol Nudt15
Ensembl Gene ENSMUSG00000033405
Gene Name nudix hydrolase 15
Synonyms A730068G11Rik, nudix (nucleoside diphosphate linked moiety X)-type motif 15, MTH2
MMRRC Submission 040894-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.117) question?
Stock # R3846 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 73756320-73785682 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 73760911 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 60 (Q60L)
Ref Sequence ENSEMBL: ENSMUSP00000039537 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022705] [ENSMUST00000043813] [ENSMUST00000162691]
AlphaFold Q8BG93
Predicted Effect probably benign
Transcript: ENSMUST00000022705
SMART Domains Protein: ENSMUSP00000022705
Gene: ENSMUSG00000022109

DomainStartEndE-ValueType
Pfam:Med4 63 206 7.8e-34 PFAM
low complexity region 259 270 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000043813
AA Change: Q60L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000039537
Gene: ENSMUSG00000033405
AA Change: Q60L

DomainStartEndE-ValueType
Pfam:NUDIX 11 142 1.5e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162691
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226903
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228141
Meta Mutation Damage Score 0.0915 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 97% (38/39)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme that belongs to the Nudix hydrolase superfamily. Members of this superfamily catalyze the hydrolysis of nucleoside diphosphates, including substrates like 8-oxo-dGTP, which are a result of oxidative damage, and can induce base mispairing during DNA replication, causing transversions. The encoded enzyme is a negative regulator of thiopurine activation and toxicity. Mutations in this gene result in poor metabolism of thiopurines, and are associated with thiopurine-induced early leukopenia. Multiple pseudogenes of this gene have been identified. [provided by RefSeq, Apr 2016]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930568D16Rik A G 2: 35,244,570 (GRCm39) Y261H probably damaging Het
Acad10 T A 5: 121,772,749 (GRCm39) I511F probably benign Het
Adgb G A 10: 10,258,465 (GRCm39) probably benign Het
Adgrg3 T C 8: 95,767,049 (GRCm39) V468A probably benign Het
Ano4 A T 10: 88,831,114 (GRCm39) I468N possibly damaging Het
Apool A T X: 111,274,155 (GRCm39) probably benign Het
Arhgap32 T C 9: 32,101,320 (GRCm39) V295A probably benign Het
Ccser2 A G 14: 36,662,245 (GRCm39) V313A probably benign Het
Ctnnd1 T C 2: 84,447,271 (GRCm39) I325V probably benign Het
Cubn T C 2: 13,287,819 (GRCm39) D3420G probably damaging Het
Dnah12 A G 14: 26,431,366 (GRCm39) T395A probably benign Het
Dock2 T G 11: 34,623,198 (GRCm39) H65P possibly damaging Het
Fsip2 A T 2: 82,816,759 (GRCm39) Q4164L possibly damaging Het
Gapvd1 A T 2: 34,619,084 (GRCm39) Y96* probably null Het
Gja3 T A 14: 57,273,161 (GRCm39) K404* probably null Het
Hdac1-ps A G 17: 78,800,401 (GRCm39) K464R possibly damaging Het
Hmcn2 A G 2: 31,320,362 (GRCm39) I3948V possibly damaging Het
Hr C T 14: 70,808,893 (GRCm39) R1090W probably damaging Het
Hrnr A G 3: 93,239,464 (GRCm39) H3234R unknown Het
Ifi207 T A 1: 173,562,869 (GRCm39) E92D probably benign Het
Iqgap2 G A 13: 95,810,186 (GRCm39) probably benign Het
Itgax G T 7: 127,732,939 (GRCm39) V273F probably damaging Het
Lamc3 A G 2: 31,814,604 (GRCm39) M1043V probably benign Het
Lgmn T C 12: 102,370,588 (GRCm39) N114S possibly damaging Het
Mov10l1 A G 15: 88,896,345 (GRCm39) N678D possibly damaging Het
Nlrp9c A G 7: 26,081,701 (GRCm39) probably null Het
Notch4 A G 17: 34,797,071 (GRCm39) T940A probably damaging Het
Or10ag56 T C 2: 87,139,526 (GRCm39) V151A probably benign Het
Or52e7 T C 7: 104,684,896 (GRCm39) C164R probably benign Het
Phip G A 9: 82,758,179 (GRCm39) R1505* probably null Het
Ptger2 T G 14: 45,226,784 (GRCm39) S121R probably damaging Het
Scyl2 A T 10: 89,476,403 (GRCm39) F907L probably damaging Het
Silc1 T A 12: 27,210,301 (GRCm39) noncoding transcript Het
Trpc4 C A 3: 54,225,433 (GRCm39) F843L probably benign Het
Tysnd1 C T 10: 61,531,867 (GRCm39) S173L possibly damaging Het
Vmn2r124 T A 17: 18,293,953 (GRCm39) V680D possibly damaging Het
Vmn2r91 G A 17: 18,327,860 (GRCm39) V485I probably benign Het
Other mutations in Nudt15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01728:Nudt15 APN 14 73,760,736 (GRCm39) critical splice donor site probably null
R0355:Nudt15 UTSW 14 73,760,824 (GRCm39) missense probably damaging 1.00
R1711:Nudt15 UTSW 14 73,760,776 (GRCm39) missense probably benign
R1763:Nudt15 UTSW 14 73,759,087 (GRCm39) missense probably benign 0.44
R2430:Nudt15 UTSW 14 73,762,742 (GRCm39) unclassified probably benign
R8132:Nudt15 UTSW 14 73,759,099 (GRCm39) missense probably benign 0.17
R9545:Nudt15 UTSW 14 73,760,918 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCATGCTTCTCTGAAGAATAATACG -3'
(R):5'- AGCTCTTTGGGTCTTCAAATCAC -3'

Sequencing Primer
(F):5'- TCTCTTACTTTCATTCTTTTCAGGC -3'
(R):5'- GCATAATGTCAAGATGGAAG -3'
Posted On 2015-04-06