Incidental Mutation 'IGL00584:Nudt1'
ID5509
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nudt1
Ensembl Gene ENSMUSG00000036639
Gene Namenudix (nucleoside diphosphate linked moiety X)-type motif 1
SynonymsMth1, 8-oxo-7,8-dihydro-2'-dGTPase
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00584
Quality Score
Status
Chromosome5
Chromosomal Location140321656-140338137 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 140337710 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 139 (F139S)
Ref Sequence ENSEMBL: ENSMUSP00000106451 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031539] [ENSMUST00000050205] [ENSMUST00000071881] [ENSMUST00000110825] [ENSMUST00000110826] [ENSMUST00000110827] [ENSMUST00000196130] [ENSMUST00000196566] [ENSMUST00000197880] [ENSMUST00000198660]
Predicted Effect probably benign
Transcript: ENSMUST00000031539
SMART Domains Protein: ENSMUSP00000031539
Gene: ENSMUSG00000029560

DomainStartEndE-ValueType
low complexity region 7 30 N/A INTRINSIC
PX 60 173 1.56e-18 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000050205
AA Change: F139S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000059983
Gene: ENSMUSG00000036639
AA Change: F139S

DomainStartEndE-ValueType
Pfam:NUDIX 4 130 6.2e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000071881
AA Change: F139S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000071778
Gene: ENSMUSG00000036639
AA Change: F139S

DomainStartEndE-ValueType
Pfam:NUDIX 4 130 1.2e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110825
SMART Domains Protein: ENSMUSP00000106449
Gene: ENSMUSG00000036639

DomainStartEndE-ValueType
Pfam:NUDIX 4 103 4.4e-15 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000110826
AA Change: F139S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106450
Gene: ENSMUSG00000036639
AA Change: F139S

DomainStartEndE-ValueType
Pfam:NUDIX 4 130 1.2e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000110827
AA Change: F139S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106451
Gene: ENSMUSG00000036639
AA Change: F139S

DomainStartEndE-ValueType
Pfam:NUDIX 4 130 1.2e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145898
SMART Domains Protein: ENSMUSP00000120347
Gene: ENSMUSG00000036639

DomainStartEndE-ValueType
Pfam:NUDIX 1 64 1.4e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000196130
SMART Domains Protein: ENSMUSP00000142390
Gene: ENSMUSG00000029560

DomainStartEndE-ValueType
PX 12 125 9.7e-21 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000196566
SMART Domains Protein: ENSMUSP00000142556
Gene: ENSMUSG00000029560

DomainStartEndE-ValueType
PX 12 125 9.7e-21 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000197880
SMART Domains Protein: ENSMUSP00000142394
Gene: ENSMUSG00000029560

DomainStartEndE-ValueType
Pfam:PX 15 88 1.1e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000198660
SMART Domains Protein: ENSMUSP00000143140
Gene: ENSMUSG00000036639

DomainStartEndE-ValueType
Pfam:NUDIX 4 112 2.1e-15 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Misincorporation of oxidized nucleoside triphosphates into DNA/RNA during replication and transcription can cause mutations that may result in carcinogenesis or neurodegeneration. The protein encoded by this gene is an enzyme that hydrolyzes oxidized purine nucleoside triphosphates, such as 8-oxo-dGTP, 8-oxo-dATP, 2-hydroxy-dATP, and 2-hydroxy rATP, to monophosphates, thereby preventing misincorporation. The encoded protein is localized mainly in the cytoplasm, with some in the mitochondria, suggesting that it is involved in the sanitization of nucleotide pools both for nuclear and mitochondrial genomes. Several alternatively spliced transcript variants, some of which encode distinct isoforms, have been identified. Additional variants have been observed, but their full-length natures have not been determined. A single-nucleotide polymorphism that results in the production of an additional, longer isoform (p26) has been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Aging mice homozygous for a knock-out allele show increased incidence of tumor formation in the lung, liver and stomach. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 16 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cep162 T C 9: 87,221,090 probably benign Het
Ces4a G T 8: 105,145,163 M288I probably benign Het
Dusp19 G A 2: 80,630,782 probably null Het
Eif4g1 C A 16: 20,686,754 probably benign Het
Farp1 T G 14: 121,237,149 I258S probably damaging Het
Galnt18 T A 7: 111,471,995 Q589L probably damaging Het
Gimap7 T A 6: 48,723,733 C84* probably null Het
Il12rb2 T C 6: 67,357,692 T168A probably damaging Het
Krba1 T C 6: 48,406,318 L216S possibly damaging Het
Mki67 T C 7: 135,695,695 K2537E probably damaging Het
Myo6 G T 9: 80,242,273 probably benign Het
Nbea T A 3: 56,082,448 N329I probably damaging Het
Ndufb11 T A X: 20,617,100 Q54L possibly damaging Het
Rgn A T X: 20,557,517 M118L probably benign Het
Syt12 C T 19: 4,447,845 V370M probably damaging Het
Syt14 A T 1: 192,930,484 N669K possibly damaging Het
Other mutations in Nudt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02171:Nudt1 APN 5 140337593 missense probably damaging 1.00
R0830:Nudt1 UTSW 5 140335321 unclassified probably null
R1676:Nudt1 UTSW 5 140334623 splice site probably null
R5073:Nudt1 UTSW 5 140331907 unclassified probably null
R5837:Nudt1 UTSW 5 140334540 missense probably damaging 1.00
R7211:Nudt1 UTSW 5 140337647 missense possibly damaging 0.61
Posted On2012-04-20