Incidental Mutation 'IGL02683:Nudt5'
ID 303431
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nudt5
Ensembl Gene ENSMUSG00000025817
Gene Name nudix hydrolase 5
Synonyms nudix (nucleoside diphosphate linked moiety X)-type motif 5
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02683
Quality Score
Status
Chromosome 2
Chromosomal Location 5849839-5875631 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 5868412 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 103 (S103R)
Ref Sequence ENSEMBL: ENSMUSP00000136233 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026927] [ENSMUST00000071016] [ENSMUST00000127116] [ENSMUST00000179748] [ENSMUST00000194933]
AlphaFold Q9JKX6
Predicted Effect probably damaging
Transcript: ENSMUST00000026927
AA Change: S103R

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000026927
Gene: ENSMUSG00000025817
AA Change: S103R

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 possibly damaging
Transcript: ENSMUST00000127116
AA Change: S103R

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000117670
Gene: ENSMUSG00000025817
AA Change: S103R

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 damaging
Transcript: ENSMUST00000179748
AA Change: S103R

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000136233
Gene: ENSMUSG00000025817
AA Change: S103R

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
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 T C 8: 111,779,163 (GRCm39) probably benign Het
Abhd3 A G 18: 10,658,790 (GRCm39) S215P probably damaging Het
Adam20 G A 8: 41,248,621 (GRCm39) V244M probably damaging Het
Akr1c21 A C 13: 4,626,312 (GRCm39) D112A probably damaging Het
Ano6 A T 15: 95,846,193 (GRCm39) Y498F probably damaging Het
Aspscr1 T C 11: 120,592,052 (GRCm39) F263S probably damaging Het
Capn11 A G 17: 45,964,517 (GRCm39) F100S probably damaging Het
Cd63 T C 10: 128,746,299 (GRCm39) C9R probably damaging Het
Cenpj T C 14: 56,790,409 (GRCm39) K547E possibly damaging Het
Clasp1 A G 1: 118,466,996 (GRCm39) D793G probably benign Het
Cmya5 G A 13: 93,227,505 (GRCm39) Q2528* probably null Het
Crybg1 A G 10: 43,865,212 (GRCm39) S1422P possibly damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dnal1 G A 12: 84,185,128 (GRCm39) G178D probably damaging Het
E2f7 T C 10: 110,618,320 (GRCm39) M795T probably benign Het
Glipr1l2 T C 10: 111,919,381 (GRCm39) V34A probably benign Het
Gsdmc2 C T 15: 63,705,261 (GRCm39) V151M probably damaging Het
Htr7 T C 19: 35,937,762 (GRCm39) T448A probably benign Het
Kcnj5 T C 9: 32,229,076 (GRCm39) T41A possibly damaging Het
Kcnt1 T C 2: 25,790,937 (GRCm39) M12T possibly damaging Het
Kif1c G A 11: 70,617,278 (GRCm39) A871T possibly damaging Het
Map3k10 T C 7: 27,358,362 (GRCm39) K571R probably damaging Het
Med23 C A 10: 24,746,615 (GRCm39) A45E probably benign Het
Or9m1 T A 2: 87,733,448 (GRCm39) T191S possibly damaging Het
Parp3 A G 9: 106,350,384 (GRCm39) S369P possibly damaging Het
Plxna4 A T 6: 32,494,541 (GRCm39) L25Q probably benign Het
Pon2 A G 6: 5,269,062 (GRCm39) V204A probably damaging Het
Ppfia1 A G 7: 144,067,095 (GRCm39) M463T probably damaging Het
Ppp1r14d T C 2: 119,049,303 (GRCm39) E95G probably damaging Het
Pramel18 T C 4: 101,767,551 (GRCm39) S267P probably benign Het
Prrc2a A G 17: 35,374,969 (GRCm39) V1227A probably benign Het
Rabgap1 T A 2: 37,392,951 (GRCm39) W536R probably damaging Het
Slco6d1 A G 1: 98,408,397 (GRCm39) N431S probably benign Het
Spen C T 4: 141,198,956 (GRCm39) V3224I probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Ssh2 A G 11: 77,289,082 (GRCm39) D88G probably damaging Het
Stat5b T G 11: 100,695,772 (GRCm39) K70T probably benign Het
Tex44 A G 1: 86,355,465 (GRCm39) D458G probably benign Het
Tut1 T A 19: 8,942,622 (GRCm39) C570S probably benign Het
Usp42 T C 5: 143,701,101 (GRCm39) E974G possibly damaging Het
Vezf1 A T 11: 87,967,153 (GRCm39) Q310L probably benign Het
Vmn2r83 A T 10: 79,327,115 (GRCm39) R574S probably benign Het
Zfp664 T C 5: 124,963,386 (GRCm39) V260A 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
R0158:Nudt5 UTSW 2 5,867,114 (GRCm39) missense probably damaging 1.00
R1193:Nudt5 UTSW 2 5,868,411 (GRCm39) missense probably benign 0.40
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
Posted On 2015-04-16