Mutagenetix > Incidental Mutation

Incidental Mutation 'P0005:Nudt3'

7574

Institutional Source

Beutler Lab

Gene Symbol

Nudt3

Ensembl Gene

ENSMUSG00000024213

Gene Name

nudix hydrolase 3

Synonyms

diphosphoinositol polyphosphate phosphohydrolase, Dipp, 1110011B09Rik, nudix (nucleoside diphosphate linked moiety X)-type motif 3

MMRRC Submission

038262-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.290) question?

Stock #

P0005 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

27798356-27842426 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 27815689 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000156111 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025050] [ENSMUST00000062397] [ENSMUST00000114886] [ENSMUST00000146321] [ENSMUST00000156429] [ENSMUST00000176458] [ENSMUST00000176876] [ENSMUST00000231742]

AlphaFold

Q9JI46

Predicted Effect

probably benign
Transcript: ENSMUST00000025050

SMART Domains

Protein: ENSMUSP00000025050
Gene: ENSMUSG00000024213

Domain	Start	End	E-Value	Type
Pfam:NUDIX	17	142	3.9e-20	PFAM
low complexity region	153	165	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000062397

SMART Domains

Protein: ENSMUSP00000059061
Gene: ENSMUSG00000024213

Domain	Start	End	E-Value	Type
Pfam:NUDIX	17	135	1.5e-18	PFAM
low complexity region	144	156	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114886

SMART Domains

Protein: ENSMUSP00000110536
Gene: ENSMUSG00000024213

Domain	Start	End	E-Value	Type
Pfam:NUDIX	1	116	1.3e-18	PFAM
low complexity region	124	136	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127236

Predicted Effect

silent
Transcript: ENSMUST00000146321

Predicted Effect

probably benign
Transcript: ENSMUST00000156429

Predicted Effect

probably benign
Transcript: ENSMUST00000176458

SMART Domains

Protein: ENSMUSP00000135175
Gene: ENSMUSG00000024213

Domain	Start	End	E-Value	Type
Pfam:NUDIX	1	58	3.8e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176876

SMART Domains

Protein: ENSMUSP00000135890
Gene: ENSMUSG00000024213

Domain	Start	End	E-Value	Type
Pfam:NUDIX	17	117	1.2e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000231742

Coding Region Coverage

1x: 85.5%
3x: 80.5%
10x: 66.1%
20x: 49.6%

Validation Efficiency

95% (104/109)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] NUDT3 belongs to the MutT, or Nudix, protein family. Nudix proteins act as homeostatic checkpoints at important stages in nucleoside phosphate metabolic pathways, guarding against elevated levels of potentially dangerous intermediates, like 8-oxo-dGTP, which promotes AT-to-CG transversions (Safrany et al., 1998 [PubMed 9822604]).[supplied by OMIM, Feb 2011]

Allele List at MGI

All alleles(57) : Targeted(2) Gene trapped(55)

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp13a1	T	C	8: 70,256,397 (GRCm39)	V845A	possibly damaging	Het
Casp6	T	C	3: 129,705,792 (GRCm39)	V153A	probably benign	Het
Col6a1	A	G	10: 76,553,163 (GRCm39)		probably benign	Het
Dars2	A	G	1: 160,881,509 (GRCm39)		probably null	Het
Hmgcll1	T	A	9: 75,982,041 (GRCm39)	M162K	possibly damaging	Het
Hydin	A	T	8: 111,220,921 (GRCm39)		probably null	Het
Ift74	A	G	4: 94,550,813 (GRCm39)		probably benign	Het
Itpr1	A	T	6: 108,358,218 (GRCm39)	I595F	probably damaging	Het
Mgat4f	T	A	1: 134,315,646 (GRCm39)	M15K	probably benign	Het
Mmp17	T	C	5: 129,673,695 (GRCm39)	V258A	probably benign	Het
Nek6	T	C	2: 38,459,749 (GRCm39)		probably null	Het
Nomo1	A	T	7: 45,686,981 (GRCm39)		probably null	Het
Pramel32	A	G	4: 88,546,187 (GRCm39)	L385P	probably damaging	Het
Prkg2	A	C	5: 99,117,806 (GRCm39)	F512V	probably damaging	Het
Ptp4a3	T	A	15: 73,627,160 (GRCm39)	D72E	possibly damaging	Het
Rpgrip1l	A	T	8: 92,025,853 (GRCm39)		probably benign	Het
Rrp9	G	A	9: 106,358,376 (GRCm39)	R101H	probably benign	Het
Slc7a6os	T	C	8: 106,931,154 (GRCm39)	I161V	probably benign	Het
Tex15	T	C	8: 34,060,896 (GRCm39)	F109L	probably benign	Het
Tns2	A	G	15: 102,022,491 (GRCm39)	Q1188R	probably damaging	Het

Other mutations in Nudt3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1136:Nudt3	UTSW	17	27,842,080 (GRCm39)	missense	probably benign	0.02
R3781:Nudt3	UTSW	17	27,799,782 (GRCm39)	missense	possibly damaging	0.83
R3782:Nudt3	UTSW	17	27,799,782 (GRCm39)	missense	possibly damaging	0.83
R5625:Nudt3	UTSW	17	27,802,202 (GRCm39)	missense	probably damaging	1.00
R7664:Nudt3	UTSW	17	27,842,149 (GRCm39)	missense	probably benign	0.01
R8475:Nudt3	UTSW	17	27,799,776 (GRCm39)	missense	possibly damaging	0.83

Protein Function and Prediction

NUDT3 belongs to the MutT, or Nudix, protein family. Nudix proteins act as homeostatic checkpoints at important stages in nucleoside phosphate metabolic pathways, guarding against elevated levels of potentially dangerous intermediates, like 8-oxo-dGTP, which promotes AT-to-CG transversions [OMIM: *609228); (1)]. Nudt3 cleaves the beta-phosphate from diphosphate groups in in diphosphoinositol pentakisphosphate (PP-InsP5) and bisdiphosphoinositol tetrakisphosphate ((PP)2-InsP4) (1).

References

1. Safrany, S. T., Caffrey, J. J., Yang, X., Bembenek, M. E., Moyer, M. B., Burkhart, W. A., and Shears, S. B. (1998) A Novel Context for the 'MutT' Module, a Guardian of Cell Integrity, in a Diphosphoinositol Polyphosphate Phosphohydrolase. EMBO J. 17, 6599-6607.

Posted On

2012-10-05

Science Writer

Anne Murray