Mutagenetix > Incidental Mutation

Incidental Mutation 'R5071:Nudt5'

388732

Institutional Source

Beutler Lab

Gene Symbol

Nudt5

Ensembl Gene

ENSMUSG00000025817

Gene Name

nudix hydrolase 5

Synonyms

nudix (nucleoside diphosphate linked moiety X)-type motif 5

MMRRC Submission

042661-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5071 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

5849839-5875631 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 5869198 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 141 (H141Q)

Ref Sequence

ENSEMBL: ENSMUSP00000117670 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026927] [ENSMUST00000071016] [ENSMUST00000127116] [ENSMUST00000179748] [ENSMUST00000194933]

AlphaFold

Q9JKX6

Predicted Effect

probably benign
Transcript: ENSMUST00000026927
AA Change: H141Q

PolyPhen 2 Score 0.352 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000026927
Gene: ENSMUSG00000025817
AA Change: H141Q

Domain	Start	End	E-Value	Type
Pfam:NUDIX	57	191	1.1e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000071016

SMART Domains

Protein: ENSMUSP00000063314
Gene: ENSMUSG00000056718

Domain	Start	End	E-Value	Type
low complexity region	49	59	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127116
AA Change: H141Q

PolyPhen 2 Score 0.373 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000117670
Gene: ENSMUSG00000025817
AA Change: H141Q

Domain	Start	End	E-Value	Type
Pfam:NUDIX	57	158	3.3e-19	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128604

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142918

Predicted Effect

probably benign
Transcript: ENSMUST00000179748
AA Change: H141Q

PolyPhen 2 Score 0.352 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000136233
Gene: ENSMUSG00000025817
AA Change: H141Q

Domain	Start	End	E-Value	Type
Pfam:NUDIX	57	192	1.2e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000194933

SMART Domains

Protein: ENSMUSP00000141265
Gene: ENSMUSG00000025817

Domain	Start	End	E-Value	Type
PDB:3BM4\|B	1	88	4e-44	PDB

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.3%

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy8	A	T	15: 64,659,207 (GRCm39)	W528R	probably damaging	Het
Agbl1	A	G	7: 76,071,665 (GRCm39)	E329G	probably damaging	Het
Agbl5	G	A	5: 31,060,403 (GRCm39)	R141Q	probably damaging	Het
AI182371	A	T	2: 34,975,227 (GRCm39)	I334N	probably benign	Het
Aldh1b1	A	G	4: 45,803,383 (GRCm39)		probably null	Het
Armc9	G	A	1: 86,113,838 (GRCm39)	M298I	probably benign	Het
Atp8a1	T	A	5: 67,973,066 (GRCm39)	K27N	probably benign	Het
BC004004	G	A	17: 29,513,389 (GRCm39)		probably null	Het
Ccdc83	A	T	7: 89,899,737 (GRCm39)	F45Y	probably damaging	Het
Cct8l1	G	A	5: 25,721,881 (GRCm39)	V199I	probably benign	Het
Cdc23	C	A	18: 34,784,742 (GRCm39)	V7L	unknown	Het
Cdh17	G	T	4: 11,810,325 (GRCm39)	G672V	probably damaging	Het
Cdh5	C	A	8: 104,867,334 (GRCm39)	T537K	probably damaging	Het
Chd1	T	A	17: 15,982,667 (GRCm39)	S1377R	probably benign	Het
Chd2	T	C	7: 73,079,437 (GRCm39)	N1821S	probably benign	Het
Cnot3	A	G	7: 3,653,860 (GRCm39)	K4R	probably damaging	Het
Colq	T	A	14: 31,250,789 (GRCm39)	I339F	possibly damaging	Het
Coq2	A	T	5: 100,815,816 (GRCm39)	L121Q	probably damaging	Het
Csnk1e	G	A	15: 79,305,072 (GRCm39)	R342*	probably null	Het
Cstl1	A	T	2: 148,592,847 (GRCm39)	M1L	probably benign	Het
Cwh43	A	G	5: 73,581,256 (GRCm39)		probably null	Het
Cyp2a22	A	T	7: 26,631,906 (GRCm39)	F450Y	probably benign	Het
Cyp2d10	C	T	15: 82,287,954 (GRCm39)	R383H	probably benign	Het
Cyp4a29	A	G	4: 115,104,860 (GRCm39)	T123A	probably benign	Het
Dgkh	T	C	14: 78,841,972 (GRCm39)	K417E	probably damaging	Het
Dnah11	A	T	12: 118,046,188 (GRCm39)	L1750*	probably null	Het
Edn1	A	G	13: 42,457,153 (GRCm39)	E62G	probably damaging	Het
Eef1akmt1	A	G	14: 57,803,464 (GRCm39)	L30P	probably damaging	Het
Fbxo42	T	C	4: 140,926,256 (GRCm39)	W313R	probably damaging	Het
Fign	A	T	2: 63,810,037 (GRCm39)	L411*	probably null	Het
Fitm1	T	A	14: 55,813,230 (GRCm39)	V31E	possibly damaging	Het
Fryl	G	A	5: 73,232,110 (GRCm39)	P1550L	probably damaging	Het
Gabrd	A	C	4: 155,471,619 (GRCm39)	F228C	probably damaging	Het
Gm5916	A	C	9: 36,039,964 (GRCm39)	L8R	probably benign	Het
Gpr108	A	G	17: 57,542,335 (GRCm39)	S557P	probably damaging	Het
Gpr75	C	A	11: 30,842,380 (GRCm39)	N428K	probably damaging	Het
H2-M5	T	G	17: 37,298,076 (GRCm39)		probably null	Het
Hdac6	A	G	X: 7,811,036 (GRCm39)	F104L	probably damaging	Homo
Homer3	T	C	8: 70,744,005 (GRCm39)	V243A	probably benign	Het
Hspg2	T	C	4: 137,267,541 (GRCm39)	S2050P	probably damaging	Het
Hydin	A	G	8: 111,265,105 (GRCm39)	N2763D	probably benign	Het
Ifi203	T	C	1: 173,762,676 (GRCm39)	Q152R	possibly damaging	Het
Ifi44	T	C	3: 151,455,269 (GRCm39)		probably benign	Het
Ifi47	A	G	11: 48,986,361 (GRCm39)	T43A	probably benign	Het
Ighv1-24	A	G	12: 114,736,748 (GRCm39)	Y51H	probably benign	Het
Inf2	A	T	12: 112,578,473 (GRCm39)		probably null	Het
Insl6	T	C	19: 29,302,655 (GRCm39)	R21G	probably benign	Het
Kif19a	G	A	11: 114,658,053 (GRCm39)	M37I	probably benign	Het
Ltbp3	T	C	19: 5,806,851 (GRCm39)	C1043R	probably damaging	Het
Mpeg1	T	A	19: 12,438,545 (GRCm39)	M1K	probably null	Het
Mrtfa	A	G	15: 80,906,627 (GRCm39)	V91A	probably damaging	Het
Muc21	G	A	17: 35,931,444 (GRCm39)		probably benign	Het
Ncald	A	T	15: 37,397,478 (GRCm39)	H67Q	probably damaging	Het
Nek9	C	A	12: 85,374,233 (GRCm39)	R268L	possibly damaging	Het
Numbl	G	A	7: 26,980,415 (GRCm39)	D466N	probably damaging	Het
Or14c46	A	G	7: 85,918,799 (GRCm39)	I66T	probably damaging	Het
Or2l5	A	G	16: 19,333,777 (GRCm39)	I203T	probably benign	Het
Or4c100	T	C	2: 88,356,385 (GRCm39)	S153P	probably damaging	Het
Or51l14	A	T	7: 103,100,617 (GRCm39)	E24D	probably benign	Het
Or52n2c	A	C	7: 104,574,700 (GRCm39)	N90K	probably benign	Het
Or6x1	T	C	9: 40,098,960 (GRCm39)	L183S	probably damaging	Het
Or8h10	A	T	2: 86,808,666 (GRCm39)	V158D	possibly damaging	Het
Pik3c2g	T	A	6: 139,665,873 (GRCm39)	C65S	probably null	Het
Plagl1	A	G	10: 13,003,005 (GRCm39)	Y91C	probably damaging	Het
Polr1a	A	G	6: 71,908,693 (GRCm39)	N506S	possibly damaging	Het
Pomt2	A	C	12: 87,180,234 (GRCm39)	C256G	probably damaging	Het
Psg29	T	A	7: 16,945,763 (GRCm39)	D444E	probably damaging	Het
Ptgs1	A	T	2: 36,141,272 (GRCm39)	N573I	probably damaging	Het
Ptprf	C	A	4: 118,069,196 (GRCm39)	G1624W	probably damaging	Het
Rbm38	C	T	2: 172,863,875 (GRCm39)	P15S	probably benign	Het
Rc3h1	A	G	1: 160,787,047 (GRCm39)	D814G	possibly damaging	Het
Rnf40	T	C	7: 127,196,458 (GRCm39)	L802P	probably damaging	Het
Rusc2	A	G	4: 43,415,240 (GRCm39)	D182G	probably benign	Het
Setd1b	A	G	5: 123,298,977 (GRCm39)		probably benign	Het
Slc4a2	G	A	5: 24,643,760 (GRCm39)	S855N	probably benign	Het
Slc8a2	T	C	7: 15,884,508 (GRCm39)	L626P	possibly damaging	Het
Slirp	A	G	12: 87,490,784 (GRCm39)	T29A	probably damaging	Het
Smarcc2	A	G	10: 128,299,809 (GRCm39)	D158G	probably damaging	Het
Sptbn1	A	G	11: 30,063,854 (GRCm39)		probably null	Het
St3gal5	T	C	6: 72,109,037 (GRCm39)	C42R	probably damaging	Het
Syt7	T	C	19: 10,420,792 (GRCm39)	S397P	possibly damaging	Het
Tenm2	T	A	11: 35,959,208 (GRCm39)	T1114S	probably damaging	Het
Thada	T	A	17: 84,693,960 (GRCm39)	D1263V	probably damaging	Het
Tmco3	G	T	8: 13,342,860 (GRCm39)	E199*	probably null	Het
Tpcn1	A	T	5: 120,686,334 (GRCm39)		probably null	Het
Tppp2	G	A	14: 52,157,912 (GRCm39)	R119Q	probably benign	Het
Trim30d	A	C	7: 104,137,165 (GRCm39)	V13G	probably damaging	Het
Ubxn2b	A	T	4: 6,214,746 (GRCm39)	Q260L	probably damaging	Het
Ufl1	A	G	4: 25,254,780 (GRCm39)	Y559H	probably benign	Het
Usp5	A	G	6: 124,803,342 (GRCm39)	F7L	probably benign	Het
Utrn	A	T	10: 12,259,948 (GRCm39)		probably null	Het
Vmn1r28	A	T	6: 58,242,894 (GRCm39)	I246F	probably benign	Het
Vmn2r2	C	A	3: 64,024,321 (GRCm39)	M753I	probably benign	Het
Zbtb26	T	C	2: 37,325,941 (GRCm39)	H365R	probably benign	Het
Zfp976	A	T	7: 42,262,354 (GRCm39)	Y494*	probably null	Het

Other mutations in Nudt5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00801:Nudt5	APN	2	5,871,168 (GRCm39)	missense	probably damaging	1.00
IGL01085:Nudt5	APN	2	5,869,238 (GRCm39)	missense	probably benign	0.01
IGL02683:Nudt5	APN	2	5,868,412 (GRCm39)	missense	probably damaging	0.97
R0158:Nudt5	UTSW	2	5,867,114 (GRCm39)	missense	probably damaging	1.00
R1193:Nudt5	UTSW	2	5,868,411 (GRCm39)	missense	probably benign	0.40
R2202:Nudt5	UTSW	2	5,860,794 (GRCm39)	missense	possibly damaging	0.93
R2203:Nudt5	UTSW	2	5,860,794 (GRCm39)	missense	possibly damaging	0.93
R2204:Nudt5	UTSW	2	5,860,794 (GRCm39)	missense	possibly damaging	0.93
R2205:Nudt5	UTSW	2	5,860,794 (GRCm39)	missense	possibly damaging	0.93
R3836:Nudt5	UTSW	2	5,871,158 (GRCm39)	splice site	probably null
R4652:Nudt5	UTSW	2	5,860,876 (GRCm39)	intron	probably benign
R4841:Nudt5	UTSW	2	5,869,239 (GRCm39)	missense	probably benign	0.00
R4842:Nudt5	UTSW	2	5,869,239 (GRCm39)	missense	probably benign	0.00
R5073:Nudt5	UTSW	2	5,869,198 (GRCm39)	missense	probably benign	0.37
R5074:Nudt5	UTSW	2	5,869,198 (GRCm39)	missense	probably benign	0.37
R5106:Nudt5	UTSW	2	5,859,640 (GRCm39)	utr 5 prime	probably benign
R6328:Nudt5	UTSW	2	5,869,248 (GRCm39)	missense	possibly damaging	0.59
R7530:Nudt5	UTSW	2	5,869,179 (GRCm39)	missense	probably damaging	1.00
R8362:Nudt5	UTSW	2	5,858,322 (GRCm39)	critical splice acceptor site	probably null
R8936:Nudt5	UTSW	2	5,869,228 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CCCTCAGACTTACCAGATGTG -3'
(R):5'- CAGCTATGGACAGAGACTATGC -3'

Sequencing Primer
(F):5'- CTTGAGAGAGCGTTTTGAATCCAC -3'
(R):5'- GGACAGAGACTATGCTGCTTTCAATG -3'

Posted On

2016-06-06