Incidental Mutation 'IGL02683:Nudt5'
ID303431
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nudt5
Ensembl Gene ENSMUSG00000025817
Gene Namenudix (nucleoside diphosphate linked moiety X)-type motif 5
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02683
Quality Score
Status
Chromosome2
Chromosomal Location5845019-5871895 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 5863601 bp
ZygosityHeterozygous
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]
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
Aars T C 8: 111,052,531 probably benign Het
Abhd3 A G 18: 10,658,790 S215P probably damaging Het
Adam20 G A 8: 40,795,584 V244M probably damaging Het
Akr1c21 A C 13: 4,576,313 D112A probably damaging Het
Ano6 A T 15: 95,948,312 Y498F probably damaging Het
Aspscr1 T C 11: 120,701,226 F263S probably damaging Het
Capn11 A G 17: 45,653,591 F100S probably damaging Het
Cd63 T C 10: 128,910,430 C9R probably damaging Het
Cenpj T C 14: 56,552,952 K547E possibly damaging Het
Clasp1 A G 1: 118,539,266 D793G probably benign Het
Cmya5 G A 13: 93,090,997 Q2528* probably null Het
Crybg1 A G 10: 43,989,216 S1422P possibly damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dnal1 G A 12: 84,138,354 G178D probably damaging Het
E2f7 T C 10: 110,782,459 M795T probably benign Het
Glipr1l2 T C 10: 112,083,476 V34A probably benign Het
Gm12800 T C 4: 101,910,354 S267P probably benign Het
Gsdmc2 C T 15: 63,833,412 V151M probably damaging Het
Htr7 T C 19: 35,960,362 T448A probably benign Het
Kcnj5 T C 9: 32,317,780 T41A possibly damaging Het
Kcnt1 T C 2: 25,900,925 M12T possibly damaging Het
Kif1c G A 11: 70,726,452 A871T possibly damaging Het
Map3k10 T C 7: 27,658,937 K571R probably damaging Het
Med23 C A 10: 24,870,717 A45E probably benign Het
Olfr1154 T A 2: 87,903,104 T191S possibly damaging Het
Parp3 A G 9: 106,473,185 S369P possibly damaging Het
Plxna4 A T 6: 32,517,606 L25Q probably benign Het
Pon2 A G 6: 5,269,062 V204A probably damaging Het
Ppfia1 A G 7: 144,513,358 M463T probably damaging Het
Ppp1r14d T C 2: 119,218,822 E95G probably damaging Het
Prrc2a A G 17: 35,155,993 V1227A probably benign Het
Rabgap1 T A 2: 37,502,939 W536R probably damaging Het
Slco6d1 A G 1: 98,480,672 N431S probably benign Het
Spen C T 4: 141,471,645 V3224I probably benign Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Ssh2 A G 11: 77,398,256 D88G probably damaging Het
Stat5b T G 11: 100,804,946 K70T probably benign Het
Tex44 A G 1: 86,427,743 D458G probably benign Het
Tut1 T A 19: 8,965,258 C570S probably benign Het
Usp42 T C 5: 143,715,346 E974G possibly damaging Het
Vezf1 A T 11: 88,076,327 Q310L probably benign Het
Vmn2r83 A T 10: 79,491,281 R574S probably benign Het
Zfp664 T C 5: 124,886,322 V260A probably benign Het
Other mutations in Nudt5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00801:Nudt5 APN 2 5866357 missense probably damaging 1.00
IGL01085:Nudt5 APN 2 5864427 missense probably benign 0.01
R0158:Nudt5 UTSW 2 5862303 missense probably damaging 1.00
R1193:Nudt5 UTSW 2 5863600 missense probably benign 0.40
R2202:Nudt5 UTSW 2 5855983 missense possibly damaging 0.93
R2203:Nudt5 UTSW 2 5855983 missense possibly damaging 0.93
R2204:Nudt5 UTSW 2 5855983 missense possibly damaging 0.93
R2205:Nudt5 UTSW 2 5855983 missense possibly damaging 0.93
R3836:Nudt5 UTSW 2 5866347 splice site probably null
R4652:Nudt5 UTSW 2 5856065 intron probably benign
R4841:Nudt5 UTSW 2 5864428 missense probably benign 0.00
R4842:Nudt5 UTSW 2 5864428 missense probably benign 0.00
R5071:Nudt5 UTSW 2 5864387 missense probably benign 0.37
R5073:Nudt5 UTSW 2 5864387 missense probably benign 0.37
R5074:Nudt5 UTSW 2 5864387 missense probably benign 0.37
R5106:Nudt5 UTSW 2 5854829 utr 5 prime probably benign
R6328:Nudt5 UTSW 2 5864437 missense possibly damaging 0.59
R7530:Nudt5 UTSW 2 5864368 missense probably damaging 1.00
R8362:Nudt5 UTSW 2 5853511 critical splice acceptor site probably null
Posted On2015-04-16