Incidental Mutation 'IGL01728:Nudt15'
ID 105377
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nudt15
Ensembl Gene ENSMUSG00000033405
Gene Name nudix hydrolase 15
Synonyms A730068G11Rik, nudix (nucleoside diphosphate linked moiety X)-type motif 15, MTH2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.117) question?
Stock # IGL01728
Quality Score
Status
Chromosome 14
Chromosomal Location 73756320-73785682 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 73760736 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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 null
Transcript: ENSMUST00000043813
SMART Domains Protein: ENSMUSP00000039537
Gene: ENSMUSG00000033405

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
Coding Region Coverage
Validation Efficiency
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019A02Rik A G 1: 53,221,668 (GRCm39) S54P probably benign Het
Adamtsl1 T C 4: 86,029,074 (GRCm39) I71T probably damaging Het
Agbl3 T C 6: 34,759,092 (GRCm39) M1T probably null Het
Ankib1 A G 5: 3,751,992 (GRCm39) probably benign Het
Brinp3 T G 1: 146,707,289 (GRCm39) probably null Het
Chuk T C 19: 44,087,085 (GRCm39) N138S possibly damaging Het
Dock7 G A 4: 98,850,568 (GRCm39) T1588M probably damaging Het
Ehbp1 G A 11: 22,051,115 (GRCm39) T479I probably damaging Het
Gpn2 T C 4: 133,311,813 (GRCm39) I15T possibly damaging Het
H3c2 G A 13: 23,936,712 (GRCm39) R117H probably benign Het
Haao A G 17: 84,142,658 (GRCm39) F149S probably damaging Het
Iqsec3 T A 6: 121,389,623 (GRCm39) probably benign Het
Lrrc39 G T 3: 116,373,149 (GRCm39) probably benign Het
Ltbp2 C A 12: 84,837,783 (GRCm39) S1199I probably damaging Het
Mageb3 G T 2: 121,784,941 (GRCm39) P254T probably damaging Het
Mapkbp1 C T 2: 119,854,302 (GRCm39) P1300S probably damaging Het
Mtfmt T A 9: 65,343,100 (GRCm39) L2H probably damaging Het
Myo18a G T 11: 77,668,682 (GRCm39) G181W probably damaging Het
Mzf1 T C 7: 12,785,654 (GRCm39) probably benign Het
Nfatc2 A T 2: 168,378,162 (GRCm39) L280Q probably damaging Het
Or51k2 T C 7: 103,595,959 (GRCm39) F62S probably damaging Het
Or8b53 A G 9: 38,667,391 (GRCm39) M136V possibly damaging Het
Parp14 A G 16: 35,677,805 (GRCm39) V721A probably damaging Het
Pbp2 G T 6: 135,287,073 (GRCm39) N91K probably damaging Het
Pde7b C A 10: 20,310,210 (GRCm39) probably null Het
Pramel7 C A 2: 87,321,674 (GRCm39) E120D possibly damaging Het
Rbbp5 C T 1: 132,425,818 (GRCm39) T516M probably benign Het
Slc16a12 A G 19: 34,668,071 (GRCm39) V28A possibly damaging Het
Slc6a9 T C 4: 117,721,802 (GRCm39) F276S probably damaging Het
Spata9 A T 13: 76,141,193 (GRCm39) I147L probably benign Het
Tenm4 A T 7: 96,545,271 (GRCm39) Y2429F probably damaging Het
Tmtc1 A G 6: 148,312,564 (GRCm39) S212P probably benign Het
Unc5cl A T 17: 48,766,991 (GRCm39) I122F probably damaging Het
Unc79 T A 12: 103,131,943 (GRCm39) F2350I probably damaging Het
Other mutations in Nudt15
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R3846:Nudt15 UTSW 14 73,760,911 (GRCm39) missense probably benign 0.01
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
Posted On 2014-01-21