Incidental Mutation 'R1193:Nudt5'
ID 100921
Institutional Source Beutler Lab
Gene Symbol Nudt5
Ensembl Gene ENSMUSG00000025817
Gene Name nudix hydrolase 5
Synonyms nudix (nucleoside diphosphate linked moiety X)-type motif 5
MMRRC Submission 039265-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1193 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 5849839-5875631 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 5868411 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 103 (S103N)
Ref Sequence ENSEMBL: ENSMUSP00000136233 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026927] [ENSMUST00000071016] [ENSMUST00000127116] [ENSMUST00000179748] [ENSMUST00000194933]
AlphaFold Q9JKX6
Predicted Effect probably benign
Transcript: ENSMUST00000026927
AA Change: S103N

PolyPhen 2 Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000026927
Gene: ENSMUSG00000025817
AA Change: S103N

DomainStartEndE-ValueType
Pfam:NUDIX 57 191 1.1e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000071016
SMART Domains Protein: ENSMUSP00000063314
Gene: ENSMUSG00000056718

DomainStartEndE-ValueType
low complexity region 49 59 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000127116
AA Change: S103N

PolyPhen 2 Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000117670
Gene: ENSMUSG00000025817
AA Change: S103N

DomainStartEndE-ValueType
Pfam:NUDIX 57 158 3.3e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128604
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142918
Predicted Effect probably benign
Transcript: ENSMUST00000179748
AA Change: S103N

PolyPhen 2 Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000136233
Gene: ENSMUSG00000025817
AA Change: S103N

DomainStartEndE-ValueType
Pfam:NUDIX 57 192 1.2e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000194933
SMART Domains Protein: ENSMUSP00000141265
Gene: ENSMUSG00000025817

DomainStartEndE-ValueType
PDB:3BM4|B 1 88 4e-44 PDB
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.5%
  • 20x: 86.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the Nudix (nucleoside diphosphate linked moiety X) hydrolase superfamily. The encoded enzyme catalyzes the hydrolysis of modified nucleoside diphosphates, including ADP-ribose (ADPR) and 8-oxoGua-containing 8-oxo-dADP and 8-oxo-dGDP. Protein-bound ADP ribose can be hazardous to the cell because it can modify some amino acid residues, resulting in the inhibition of ATP-activated potassium channels. 8-oxoGua is an oxidized form of guanine that can potentially alter genetic information by pairing with adenine and cytosine in RNA. Presence of 8-oxoGua in RNA results in formation of abnormal proteins due to translational errors. [provided by RefSeq, Aug 2013]
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl6a A G 3: 32,766,293 (GRCm39) D49G probably benign Het
D6Ertd527e C G 6: 87,088,506 (GRCm39) T223S unknown Het
Dna2 C T 10: 62,784,966 (GRCm39) R28W probably benign Het
Gpm6a A T 8: 55,500,268 (GRCm39) probably null Het
Nrbp1 T A 5: 31,403,157 (GRCm39) I210N probably damaging Het
Or5an9 A T 19: 12,187,803 (GRCm39) Y291F probably damaging Het
Or6z3 A G 7: 6,463,715 (GRCm39) N69S probably benign Het
Pds5a G T 5: 65,795,145 (GRCm39) A697E probably damaging Het
Pik3ca A G 3: 32,510,242 (GRCm39) D806G probably damaging Het
Rars1 C T 11: 35,700,153 (GRCm39) A548T possibly damaging Het
Rfk C T 19: 17,372,685 (GRCm39) P69L probably damaging Het
Shf G A 2: 122,199,163 (GRCm39) P51S probably damaging Het
Sp4 C T 12: 118,262,981 (GRCm39) R355H possibly damaging Het
Tcaim T C 9: 122,647,895 (GRCm39) Y137H probably damaging Het
Tenm2 C T 11: 35,954,004 (GRCm39) G1236R possibly damaging Het
Tmem150c T C 5: 100,231,451 (GRCm39) T175A probably damaging Het
Twnk A G 19: 44,996,229 (GRCm39) K221E probably damaging Het
Vmn2r67 T C 7: 84,800,653 (GRCm39) K428E probably damaging Het
Vmn2r82 T A 10: 79,213,739 (GRCm39) Y108* probably null Het
Wwox G A 8: 115,406,614 (GRCm39) V202M probably benign Het
Other mutations in Nudt5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00801:Nudt5 APN 2 5,871,168 (GRCm39) missense probably damaging 1.00
IGL01085:Nudt5 APN 2 5,869,238 (GRCm39) missense probably benign 0.01
IGL02683:Nudt5 APN 2 5,868,412 (GRCm39) missense probably damaging 0.97
R0158:Nudt5 UTSW 2 5,867,114 (GRCm39) missense probably damaging 1.00
R2202:Nudt5 UTSW 2 5,860,794 (GRCm39) missense possibly damaging 0.93
R2203:Nudt5 UTSW 2 5,860,794 (GRCm39) missense possibly damaging 0.93
R2204:Nudt5 UTSW 2 5,860,794 (GRCm39) missense possibly damaging 0.93
R2205:Nudt5 UTSW 2 5,860,794 (GRCm39) missense possibly damaging 0.93
R3836:Nudt5 UTSW 2 5,871,158 (GRCm39) splice site probably null
R4652:Nudt5 UTSW 2 5,860,876 (GRCm39) intron probably benign
R4841:Nudt5 UTSW 2 5,869,239 (GRCm39) missense probably benign 0.00
R4842:Nudt5 UTSW 2 5,869,239 (GRCm39) missense probably benign 0.00
R5071:Nudt5 UTSW 2 5,869,198 (GRCm39) missense probably benign 0.37
R5073:Nudt5 UTSW 2 5,869,198 (GRCm39) missense probably benign 0.37
R5074:Nudt5 UTSW 2 5,869,198 (GRCm39) missense probably benign 0.37
R5106:Nudt5 UTSW 2 5,859,640 (GRCm39) utr 5 prime probably benign
R6328:Nudt5 UTSW 2 5,869,248 (GRCm39) missense possibly damaging 0.59
R7530:Nudt5 UTSW 2 5,869,179 (GRCm39) missense probably damaging 1.00
R8362:Nudt5 UTSW 2 5,858,322 (GRCm39) critical splice acceptor site probably null
R8936:Nudt5 UTSW 2 5,869,228 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- GGCCATTCGTTCCTCATAGTGACC -3'
(R):5'- TCGAACTTGCTCCCATGCAGAG -3'

Sequencing Primer
(F):5'- GTGACCATAATACTGACCTAGTCTG -3'
(R):5'- cctccaactctcaatcctcc -3'
Posted On 2014-01-15