Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02171:Nudt1'

283538

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nudt1

Ensembl Gene

ENSMUSG00000036639

Gene Name

nudix hydrolase 1

Synonyms

nudix (nucleoside diphosphate linked moiety X)-type motif 1, 8-oxo-7,8-dihydro-2'-dGTPase, Mth1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02171

Quality Score

Status

Chromosome

Chromosomal Location

140307411-140323892 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 140323348 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 100 (E100G)

Ref Sequence

ENSEMBL: ENSMUSP00000143140 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031539] [ENSMUST00000050205] [ENSMUST00000071881] [ENSMUST00000110825] [ENSMUST00000110826] [ENSMUST00000110827] [ENSMUST00000198660] [ENSMUST00000196130] [ENSMUST00000197880] [ENSMUST00000196566]

AlphaFold

P53368

Predicted Effect

probably benign
Transcript: ENSMUST00000031539

SMART Domains

Protein: ENSMUSP00000031539
Gene: ENSMUSG00000029560

Domain	Start	End	E-Value	Type
low complexity region	7	30	N/A	INTRINSIC
PX	60	173	1.56e-18	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000050205
AA Change: E100G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000059983
Gene: ENSMUSG00000036639
AA Change: E100G

Domain	Start	End	E-Value	Type
Pfam:NUDIX	4	130	6.2e-18	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000071881
AA Change: E100G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000071778
Gene: ENSMUSG00000036639
AA Change: E100G

Domain	Start	End	E-Value	Type
Pfam:NUDIX	4	130	1.2e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110825

SMART Domains

Protein: ENSMUSP00000106449
Gene: ENSMUSG00000036639

Domain	Start	End	E-Value	Type
Pfam:NUDIX	4	103	4.4e-15	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000110826
AA Change: E100G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106450
Gene: ENSMUSG00000036639
AA Change: E100G

Domain	Start	End	E-Value	Type
Pfam:NUDIX	4	130	1.2e-20	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000110827
AA Change: E100G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106451
Gene: ENSMUSG00000036639
AA Change: E100G

Domain	Start	End	E-Value	Type
Pfam:NUDIX	4	130	1.2e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145898

SMART Domains

Protein: ENSMUSP00000120347
Gene: ENSMUSG00000036639

Domain	Start	End	E-Value	Type
Pfam:NUDIX	1	64	1.4e-10	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000198660
AA Change: E100G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000143140
Gene: ENSMUSG00000036639
AA Change: E100G

Domain	Start	End	E-Value	Type
Pfam:NUDIX	4	112	2.1e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000196130

SMART Domains

Protein: ENSMUSP00000142390
Gene: ENSMUSG00000029560

Domain	Start	End	E-Value	Type
PX	12	125	9.7e-21	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000197880

SMART Domains

Protein: ENSMUSP00000142394
Gene: ENSMUSG00000029560

Domain	Start	End	E-Value	Type
Pfam:PX	15	88	1.1e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000196566

SMART Domains

Protein: ENSMUSP00000142556
Gene: ENSMUSG00000029560

Domain	Start	End	E-Value	Type
PX	12	125	9.7e-21	SMART

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	A	G	6: 91,921,237 (GRCm39)	I772M	probably benign	Het
Abcg4	C	A	9: 44,186,306 (GRCm39)		probably benign	Het
Abo	A	G	2: 26,738,969 (GRCm39)	I18T	probably benign	Het
AI661453	C	T	17: 47,777,921 (GRCm39)		probably benign	Het
Apbb1	A	G	7: 105,208,333 (GRCm39)		probably benign	Het
Atp8a1	G	A	5: 67,895,808 (GRCm39)	S557L	probably damaging	Het
Bora	G	T	14: 99,284,758 (GRCm39)	D3Y	probably damaging	Het
Cfap46	T	C	7: 139,246,972 (GRCm39)	D323G	possibly damaging	Het
Dcdc2a	T	A	13: 25,240,417 (GRCm39)	V55E	probably damaging	Het
Dync1i1	G	T	6: 5,969,498 (GRCm39)	R441L	probably damaging	Het
Ecd	T	A	14: 20,370,895 (GRCm39)	Y608F	probably damaging	Het
Eif4g3	A	G	4: 137,853,900 (GRCm39)	T489A	probably benign	Het
Erlin1	A	G	19: 44,037,555 (GRCm39)		probably benign	Het
Fras1	A	G	5: 96,883,040 (GRCm39)	E2524G	probably benign	Het
Garem1	C	T	18: 21,262,298 (GRCm39)	D839N	probably damaging	Het
Gdap1l1	T	A	2: 163,289,470 (GRCm39)	V145E	possibly damaging	Het
Gvin3	G	T	7: 106,200,548 (GRCm39)		noncoding transcript	Het
Hydin	A	T	8: 111,178,590 (GRCm39)	K1062*	probably null	Het
Igkv4-92	T	C	6: 68,732,573 (GRCm39)	D2G	probably benign	Het
Lemd3	T	A	10: 120,769,527 (GRCm39)		probably benign	Het
Mbl1	C	T	14: 40,876,455 (GRCm39)		probably benign	Het
Mdh1	T	C	11: 21,507,438 (GRCm39)		probably benign	Het
Mms19	A	G	19: 41,945,578 (GRCm39)		probably null	Het
Nrxn3	C	A	12: 89,159,933 (GRCm39)	P20T	probably damaging	Het
Or2y1e	T	A	11: 49,218,862 (GRCm39)	F208Y	possibly damaging	Het
Or9g4	T	A	2: 85,505,285 (GRCm39)	D70V	probably damaging	Het
Palb2	A	C	7: 121,706,809 (GRCm39)	S1083A	probably damaging	Het
Phc2	T	G	4: 128,604,858 (GRCm39)	F198C	probably damaging	Het
Pkhd1l1	A	G	15: 44,379,542 (GRCm39)	D1056G	possibly damaging	Het
Psg17	A	G	7: 18,552,712 (GRCm39)	Y188H	probably damaging	Het
Scn1a	T	A	2: 66,103,543 (GRCm39)	I1906F	probably damaging	Het
Sidt2	C	A	9: 45,864,068 (GRCm39)	R150L	possibly damaging	Het
Slc39a10	G	A	1: 46,857,288 (GRCm39)	A696V	probably damaging	Het
Supt3	T	C	17: 45,314,043 (GRCm39)	I144T	probably damaging	Het
Trip4	A	G	9: 65,788,332 (GRCm39)	S38P	probably damaging	Het
Vmn1r173	G	T	7: 23,402,321 (GRCm39)	M185I	probably benign	Het
Vmn2r9	G	A	5: 108,991,502 (GRCm39)	L620F	probably damaging	Het
Wdr72	A	T	9: 74,117,816 (GRCm39)	M843L	possibly damaging	Het
Zfp595	T	A	13: 67,464,719 (GRCm39)	N518Y	possibly damaging	Het

Other mutations in Nudt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00584:Nudt1	APN	5	140,323,465 (GRCm39)	missense	probably damaging	1.00
R0830:Nudt1	UTSW	5	140,321,076 (GRCm39)	splice site	probably null
R1676:Nudt1	UTSW	5	140,320,378 (GRCm39)	splice site	probably null
R5073:Nudt1	UTSW	5	140,317,662 (GRCm39)	splice site	probably null
R5837:Nudt1	UTSW	5	140,320,295 (GRCm39)	missense	probably damaging	1.00
R7211:Nudt1	UTSW	5	140,323,402 (GRCm39)	missense	possibly damaging	0.61

Posted On

2015-04-16