Mutagenetix > Incidental Mutation

Incidental Mutation 'R0830:Nudt1'

77482

Institutional Source

Beutler Lab

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 #

R0830 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

140307411-140323892 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 140321076 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000031536 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031536] [ENSMUST00000031539] [ENSMUST00000050205] [ENSMUST00000071881] [ENSMUST00000110825] [ENSMUST00000110826] [ENSMUST00000110827] [ENSMUST00000198660] [ENSMUST00000197880] [ENSMUST00000196130]

AlphaFold

P53368

Predicted Effect

probably null
Transcript: ENSMUST00000031536

SMART Domains

Protein: ENSMUSP00000031536
Gene: ENSMUSG00000029557

Domain	Start	End	E-Value	Type
Pfam:FtsJ	52	237	8e-52	PFAM

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 benign
Transcript: ENSMUST00000050205
AA Change: L54Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000059983
Gene: ENSMUSG00000036639
AA Change: L54Q

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

Predicted Effect

probably benign
Transcript: ENSMUST00000071881
AA Change: L54Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000071778
Gene: ENSMUSG00000036639
AA Change: L54Q

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

Predicted Effect

probably benign
Transcript: ENSMUST00000110825
AA Change: L54Q

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000106449
Gene: ENSMUSG00000036639
AA Change: L54Q

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

Predicted Effect

probably benign
Transcript: ENSMUST00000110826
AA Change: L54Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000106450
Gene: ENSMUSG00000036639
AA Change: L54Q

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

Predicted Effect

probably benign
Transcript: ENSMUST00000110827
AA Change: L54Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000106451
Gene: ENSMUSG00000036639
AA Change: L54Q

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

Predicted Effect

probably benign
Transcript: ENSMUST00000198660
AA Change: L54Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000143140
Gene: ENSMUSG00000036639
AA Change: L54Q

Domain	Start	End	E-Value	Type
Pfam:NUDIX	4	112	2.1e-15	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 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: ENSMUST00000196130

SMART Domains

Protein: ENSMUSP00000142390
Gene: ENSMUSG00000029560

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

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.0%
20x: 90.6%

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700056E22Rik	C	T	1: 183,765,624 (GRCm39)	R145H	probably damaging	Het
Adam26a	C	T	8: 44,021,439 (GRCm39)	V684I	probably benign	Het
Alk	T	C	17: 72,910,195 (GRCm39)	I170M	probably benign	Het
Apc2	T	C	10: 80,151,239 (GRCm39)	Y2069H	probably damaging	Het
Aspm	A	G	1: 139,401,992 (GRCm39)	T1219A	probably damaging	Het
Bnip1	T	C	17: 27,008,679 (GRCm39)	S94P	probably benign	Het
Cftr	A	G	6: 18,270,224 (GRCm39)	I805V	probably benign	Het
Col25a1	T	A	3: 130,378,375 (GRCm39)	D609E	probably damaging	Het
Cplane1	T	A	15: 8,276,669 (GRCm39)	V2771E	unknown	Het
Cyp2g1	A	G	7: 26,514,216 (GRCm39)	K274R	probably benign	Het
D5Ertd579e	G	A	5: 36,771,101 (GRCm39)	T1098I	probably damaging	Het
Ddx39a	T	A	8: 84,446,452 (GRCm39)	C74S	possibly damaging	Het
E2f3	C	T	13: 30,169,543 (GRCm39)	A37T	probably benign	Het
Emilin2	A	G	17: 71,580,815 (GRCm39)	M637T	probably benign	Het
Exosc7	T	C	9: 122,948,358 (GRCm39)	L93P	probably benign	Het
F2	T	C	2: 91,460,545 (GRCm39)	E316G	probably benign	Het
Fat4	A	C	3: 39,053,258 (GRCm39)	Q4084P	probably benign	Het
Flywch1	T	C	17: 23,981,344 (GRCm39)	K160E	probably benign	Het
Foxi2	A	G	7: 135,013,459 (GRCm39)	T230A	probably benign	Het
Fthl17a	A	G	X: 84,313,679 (GRCm39)	N154S	possibly damaging	Het
Hykk	G	A	9: 54,844,601 (GRCm39)	R222Q	probably damaging	Het
Il18rap	T	A	1: 40,582,150 (GRCm39)	V357E	probably damaging	Het
Ing4	A	G	6: 125,020,923 (GRCm39)	E15G	probably damaging	Het
Irak1	T	C	X: 73,060,189 (GRCm39)	D679G	probably damaging	Het
Itga1	T	C	13: 115,143,568 (GRCm39)	E321G	probably benign	Het
Nup58	A	G	14: 60,480,931 (GRCm39)	F138S	probably damaging	Het
Or10al6	A	T	17: 38,082,804 (GRCm39)	M87L	probably damaging	Het
Or2a5	G	T	6: 42,873,532 (GRCm39)	W49L	probably benign	Het
Pllp	T	C	8: 95,406,103 (GRCm39)	Y60C	probably damaging	Het
Pnpla7	T	C	2: 24,887,267 (GRCm39)	V37A	probably damaging	Het
Poglut3	T	G	9: 53,302,011 (GRCm39)	L32R	probably damaging	Het
Psme4	A	G	11: 30,757,797 (GRCm39)	H310R	possibly damaging	Het
Rasl10b	G	A	11: 83,308,665 (GRCm39)		probably null	Het
Sash1	C	T	10: 8,605,673 (GRCm39)	V906M	probably benign	Het
Scn1a	A	T	2: 66,130,128 (GRCm39)	I1212K	probably damaging	Het
Stbd1	A	T	5: 92,752,989 (GRCm39)	S160C	probably benign	Het
Tex29	T	C	8: 11,904,157 (GRCm39)	V99A	probably benign	Het
Tg	A	T	15: 66,596,993 (GRCm39)	N79I	probably damaging	Het
Tie1	T	C	4: 118,339,860 (GRCm39)	D389G	probably damaging	Het
Vmn1r178	A	G	7: 23,593,452 (GRCm39)	T167A	possibly damaging	Het
Xkr4	C	T	1: 3,740,968 (GRCm39)	G202S	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
IGL02171:Nudt1	APN	5	140,323,348 (GRCm39)	missense	probably damaging	1.00
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

Predicted Primers

PCR Primer
(F):5'- TATAGCAATGCCTCTGCACGCTGTCC -3'
(R):5'- TGACTCATCCCCACGCTACAAGTCTG -3'

Sequencing Primer
(F):5'- TGTCCTCCTGGAATACGCAG -3'
(R):5'- TAGAAAGGCTTGGTGCCTATAC -3'

Posted On

2013-10-16