Incidental Mutation 'R8475:Nudt3'
ID 657245
Institutional Source Beutler Lab
Gene Symbol Nudt3
Ensembl Gene ENSMUSG00000024213
Gene Name nudix hydrolase 3
Synonyms diphosphoinositol polyphosphate phosphohydrolase, Dipp, 1110011B09Rik, nudix (nucleoside diphosphate linked moiety X)-type motif 3
MMRRC Submission 067919-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.393) question?
Stock # R8475 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 27798356-27842426 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 27799776 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 136 (S136P)
Ref Sequence ENSEMBL: ENSMUSP00000156111 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025050] [ENSMUST00000062397] [ENSMUST00000114886] [ENSMUST00000156429] [ENSMUST00000176458] [ENSMUST00000176876] [ENSMUST00000231742]
AlphaFold Q9JI46
Predicted Effect possibly damaging
Transcript: ENSMUST00000025050
AA Change: S165P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000025050
Gene: ENSMUSG00000024213
AA Change: S165P

DomainStartEndE-ValueType
Pfam:NUDIX 17 142 3.9e-20 PFAM
low complexity region 153 165 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000062397
AA Change: S156P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000059061
Gene: ENSMUSG00000024213
AA Change: S156P

DomainStartEndE-ValueType
Pfam:NUDIX 17 135 1.5e-18 PFAM
low complexity region 144 156 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000114886
AA Change: S136P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000110536
Gene: ENSMUSG00000024213
AA Change: S136P

DomainStartEndE-ValueType
Pfam:NUDIX 1 116 1.3e-18 PFAM
low complexity region 124 136 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000156429
AA Change: S113P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect probably benign
Transcript: ENSMUST00000176458
SMART Domains Protein: ENSMUSP00000135175
Gene: ENSMUSG00000024213

DomainStartEndE-ValueType
Pfam:NUDIX 1 58 3.8e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000176876
SMART Domains Protein: ENSMUSP00000135890
Gene: ENSMUSG00000024213

DomainStartEndE-ValueType
Pfam:NUDIX 17 117 1.2e-18 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000231742
AA Change: S136P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (48/48)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] NUDT3 belongs to the MutT, or Nudix, protein family. Nudix proteins act as homeostatic checkpoints at important stages in nucleoside phosphate metabolic pathways, guarding against elevated levels of potentially dangerous intermediates, like 8-oxo-dGTP, which promotes AT-to-CG transversions (Safrany et al., 1998 [PubMed 9822604]).[supplied by OMIM, Feb 2011]
Allele List at MGI

All alleles(57) : Targeted(2) Gene trapped(55)
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik G A 5: 138,561,188 (GRCm39) T158M probably benign Het
Adamts14 T C 10: 61,038,666 (GRCm39) E945G probably damaging Het
Adgrl3 T C 5: 81,871,976 (GRCm39) V958A probably benign Het
Adh6a T C 3: 138,030,979 (GRCm39) I156T probably benign Het
Akt1 A G 12: 112,624,863 (GRCm39) V201A possibly damaging Het
Als2cl C G 9: 110,715,484 (GRCm39) A182G possibly damaging Het
Amn T A 12: 111,241,819 (GRCm39) L295Q probably benign Het
Dbf4 A G 5: 8,448,664 (GRCm39) probably benign Het
Depdc7 G A 2: 104,552,314 (GRCm39) R498C probably benign Het
Eogt A T 6: 97,122,327 (GRCm39) Y35* probably null Het
Epb41l1 T G 2: 156,364,150 (GRCm39) S886R probably damaging Het
Fshr A T 17: 89,293,456 (GRCm39) D407E probably damaging Het
Gngt1 C A 6: 3,994,262 (GRCm39) D13E probably benign Het
Grxcr1 T C 5: 68,323,484 (GRCm39) L254P possibly damaging Het
Itga11 A G 9: 62,651,327 (GRCm39) D290G probably damaging Het
Klf16 A G 10: 80,412,719 (GRCm39) S106P probably benign Het
Klk1b5 A G 7: 43,500,204 (GRCm39) D264G possibly damaging Het
Lama2 C T 10: 26,977,369 (GRCm39) V1937M possibly damaging Het
Lipi T A 16: 75,370,862 (GRCm39) K118N probably benign Het
Manba G A 3: 135,217,573 (GRCm39) V130I probably benign Het
Map2 A G 1: 66,453,164 (GRCm39) S527G probably damaging Het
Masp1 C A 16: 23,271,281 (GRCm39) V656L probably damaging Het
Mrpl10 A T 11: 96,938,261 (GRCm39) N137I probably benign Het
Mtfmt C A 9: 65,359,469 (GRCm39) N381K probably benign Het
Myo18b A T 5: 113,021,422 (GRCm39) Y546* probably null Het
Nectin4 C T 1: 171,212,280 (GRCm39) R293* probably null Het
Or14c39 A C 7: 86,344,361 (GRCm39) R232S probably benign Het
Or1q1 G A 2: 36,887,066 (GRCm39) M81I probably damaging Het
Or4a81 T C 2: 89,619,586 (GRCm39) M37V probably benign Het
Or52h7 A G 7: 104,214,066 (GRCm39) M213V probably benign Het
Or9m2 T C 2: 87,820,536 (GRCm39) L27P probably damaging Het
Oxnad1 A G 14: 31,823,250 (GRCm39) probably null Het
Parn A G 16: 13,425,113 (GRCm39) probably null Het
Pcdha12 T C 18: 37,154,136 (GRCm39) V285A possibly damaging Het
Pfkfb2 G C 1: 130,624,816 (GRCm39) Q515E probably benign Het
Pjvk T C 2: 76,480,901 (GRCm39) F40L probably benign Het
Pygo2 A G 3: 89,340,697 (GRCm39) Y328C probably damaging Het
Rapgef5 A C 12: 117,681,965 (GRCm39) K215Q probably damaging Het
Sephs1 T A 2: 4,893,821 (GRCm39) probably null Het
Slc12a9 C A 5: 137,313,737 (GRCm39) V741L probably benign Het
Spmip4 A G 6: 50,566,107 (GRCm39) Y123H probably damaging Het
Tbx21 A T 11: 96,990,808 (GRCm39) V290D possibly damaging Het
Tep1 C A 14: 51,078,712 (GRCm39) G1514W probably damaging Het
Vmn2r16 T C 5: 109,487,073 (GRCm39) M98T probably benign Het
Zfr A G 15: 12,150,455 (GRCm39) N474S probably benign Het
Zpbp T C 11: 11,365,203 (GRCm39) K215E possibly damaging Het
Other mutations in Nudt3
AlleleSourceChrCoordTypePredicted EffectPPH Score
P0005:Nudt3 UTSW 17 27,815,689 (GRCm39) splice site probably benign
R1136:Nudt3 UTSW 17 27,842,080 (GRCm39) missense probably benign 0.02
R3781:Nudt3 UTSW 17 27,799,782 (GRCm39) missense possibly damaging 0.83
R3782:Nudt3 UTSW 17 27,799,782 (GRCm39) missense possibly damaging 0.83
R5625:Nudt3 UTSW 17 27,802,202 (GRCm39) missense probably damaging 1.00
R7664:Nudt3 UTSW 17 27,842,149 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TGCAGGAAAGTGCTTGTGAG -3'
(R):5'- ATGAAGTCTGCCTCCCACTC -3'

Sequencing Primer
(F):5'- GCAGGAAAGTGCTTGTGAGTTACAC -3'
(R):5'- TCCCACTCAGAGCTGTGC -3'
Posted On 2021-01-18