Mutagenetix > Incidental Mutation

Incidental Mutation 'R7530:Nudt5'

583243

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

045602-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7530 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5849839-5875631 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5869179 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 135 (L135S)

Ref Sequence

ENSEMBL: ENSMUSP00000026927 (fasta)

Gene Model

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

AlphaFold

Q9JKX6

Predicted Effect

probably damaging
Transcript: ENSMUST00000026927
AA Change: L135S

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

SMART Domains

Protein: ENSMUSP00000026927
Gene: ENSMUSG00000025817
AA Change: L135S

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 damaging
Transcript: ENSMUST00000127116
AA Change: L135S

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

SMART Domains

Protein: ENSMUSP00000117670
Gene: ENSMUSG00000025817
AA Change: L135S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000179748
AA Change: L135S

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

SMART Domains

Protein: ENSMUSP00000136233
Gene: ENSMUSG00000025817
AA Change: L135S

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

0.4686

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (52/53)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430550D23Rik	C	T	2: 155,845,840 (GRCm39)	V6I	probably benign	Het
Atp10a	A	G	7: 58,423,724 (GRCm39)	T230A	probably benign	Het
Atp5mc2	A	T	15: 102,576,183 (GRCm39)	M1K	probably null	Het
Atp8a1	A	C	5: 67,902,971 (GRCm39)	L535R		Het
Bsn	A	G	9: 107,989,155 (GRCm39)	I2199T	probably damaging	Het
Ccdc73	A	G	2: 104,824,915 (GRCm39)	T155A		Het
Cdc42bpg	T	G	19: 6,372,305 (GRCm39)	F1430L	probably benign	Het
Cdc42bpg	G	T	19: 6,372,306 (GRCm39)	V1431L	probably benign	Het
Chat	A	T	14: 32,130,915 (GRCm39)	Y575*	probably null	Het
Cimip4	T	C	15: 78,270,516 (GRCm39)	D84G	probably benign	Het
Col6a4	A	T	9: 105,945,589 (GRCm39)	C842S	probably damaging	Het
Coq2	T	C	5: 100,822,008 (GRCm39)	S34G	probably benign	Het
Crybg1	C	T	10: 43,875,069 (GRCm39)	A680T	possibly damaging	Het
Ctsr	T	A	13: 61,310,931 (GRCm39)	K38N	probably damaging	Het
Dpm2	T	C	2: 32,462,313 (GRCm39)	F33S	probably damaging	Het
Ecpas	A	G	4: 58,815,317 (GRCm39)	M1322T	probably damaging	Het
Ext2	T	A	2: 93,491,998 (GRCm39)	H564L	probably benign	Het
Fbxl2	G	T	9: 113,818,241 (GRCm39)	H202N	probably benign	Het
Fra10ac1	A	T	19: 38,204,353 (GRCm39)	Y74*	probably null	Het
Greb1	T	A	12: 16,767,207 (GRCm39)	I332F	probably benign	Het
Ifnar2	A	G	16: 91,201,201 (GRCm39)	S481G	probably benign	Het
Igkv9-123	G	A	6: 67,931,381 (GRCm39)	P62S	possibly damaging	Het
Iqub	T	C	6: 24,450,622 (GRCm39)	Q659R	probably benign	Het
Kansl2	T	C	15: 98,426,896 (GRCm39)	T242A	probably benign	Het
Kif28	C	T	1: 179,536,045 (GRCm39)	G543D	probably benign	Het
Lsg1	A	G	16: 30,401,419 (GRCm39)	S93P	possibly damaging	Het
Med23	T	A	10: 24,781,851 (GRCm39)	C1052S	probably benign	Het
Mgam	G	T	6: 40,686,152 (GRCm39)		probably null	Het
Mtmr4	C	T	11: 87,502,702 (GRCm39)	R919W	probably damaging	Het
Muc5ac	G	T	7: 141,367,536 (GRCm39)	V2986L	possibly damaging	Het
Myo5b	A	G	18: 74,864,802 (GRCm39)	E1340G	probably benign	Het
Nkd2	T	C	13: 73,995,078 (GRCm39)	D40G	possibly damaging	Het
Oca2	A	C	7: 55,981,720 (GRCm39)	D614A	probably damaging	Het
Or1e16	A	G	11: 73,279,189 (GRCm39)	V221A	possibly damaging	Het
Or6c201	A	C	10: 128,969,849 (GRCm39)		probably null	Het
Or8k24	T	A	2: 86,216,515 (GRCm39)	L82F	probably damaging	Het
Plec	C	A	15: 76,069,844 (GRCm39)	A991S	unknown	Het
Plekhg2	G	A	7: 28,061,353 (GRCm39)	R817C	probably damaging	Het
Plrg1	T	A	3: 82,965,989 (GRCm39)	L48H	probably damaging	Het
Prx	A	G	7: 27,207,397 (GRCm39)	E18G	probably damaging	Het
Ptprf	T	C	4: 118,069,945 (GRCm39)	Y1479C	probably damaging	Het
Rap1b	A	T	10: 117,653,357 (GRCm39)	Y159*	probably null	Het
Rbck1	T	C	2: 152,166,212 (GRCm39)	E242G	possibly damaging	Het
Rxfp1	T	C	3: 79,557,768 (GRCm39)	D570G	probably benign	Het
Slc35f5	G	T	1: 125,512,275 (GRCm39)	L358F	probably damaging	Het
Smarcd2	A	G	11: 106,156,587 (GRCm39)	W274R	probably damaging	Het
Spata6l	A	T	19: 28,926,121 (GRCm39)	Y43*	probably null	Het
Ssu72	A	G	4: 155,815,786 (GRCm39)	T77A	probably benign	Het
Tomm40	G	A	7: 19,436,829 (GRCm39)	T297I	possibly damaging	Het
Urb1	A	T	16: 90,558,522 (GRCm39)	I1743N	probably damaging	Het
Utp20	G	A	10: 88,588,868 (GRCm39)	R2434C	probably damaging	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
R5071:Nudt5	UTSW	2	5,869,198 (GRCm39)	missense	probably benign	0.37
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
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'- AACCCTCAGACTTACCAGATGTG -3'
(R):5'- TGGACAGAGACTATGCTGCTTTC -3'

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

Posted On

2019-10-17