Mutagenetix > Incidental Mutation

Incidental Mutation 'R0781:Nudt7'

76631

Institutional Source

Beutler Lab

Gene Symbol

Nudt7

Ensembl Gene

ENSMUSG00000031767

Gene Name

nudix hydrolase 7

Synonyms

1300007B24Rik, 2210404C19Rik, nudix (nucleoside diphosphate linked moiety X)-type motif 7

MMRRC Submission

038961-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R0781 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

114860314-114881471 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

G to A at 114862111 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000114598 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066514] [ENSMUST00000073521] [ENSMUST00000109109] [ENSMUST00000134593] [ENSMUST00000147605]

AlphaFold

Q99P30

Predicted Effect

probably benign
Transcript: ENSMUST00000066514

SMART Domains

Protein: ENSMUSP00000065791
Gene: ENSMUSG00000031767

Domain	Start	End	E-Value	Type
Pfam:NUDIX	15	140	4.1e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000073521

SMART Domains

Protein: ENSMUSP00000073213
Gene: ENSMUSG00000031767

Domain	Start	End	E-Value	Type
Pfam:NUDIX	38	168	4.4e-17	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000109109
AA Change: C13Y

SMART Domains

Protein: ENSMUSP00000104737
Gene: ENSMUSG00000031767
AA Change: C13Y

Domain	Start	End	E-Value	Type
Pfam:NUDIX	62	193	3.2e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000134593

SMART Domains

Protein: ENSMUSP00000116868
Gene: ENSMUSG00000031767

Domain	Start	End	E-Value	Type
Pfam:NUDIX	38	146	4.2e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000147605

SMART Domains

Protein: ENSMUSP00000114598
Gene: ENSMUSG00000031767

Domain	Start	End	E-Value	Type
Pfam:NUDIX	38	107	1.2e-8	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.0%
20x: 93.2%

Validation Efficiency

97% (67/69)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the Nudix hydrolase family. Nudix hydrolases eliminate potentially toxic nucleotide metabolites from the cell and regulate the concentrations and availability of many different nucleotide substrates, cofactors, and signaling molecules. Alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Aug 2011]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921513D11Rik	G	T	17: 79,935,180 (GRCm39)	A98S	probably benign	Het
Acp2	A	G	2: 91,038,767 (GRCm39)		probably null	Het
Akap13	T	G	7: 75,261,125 (GRCm39)	S447A	possibly damaging	Het
Alk	G	A	17: 72,291,740 (GRCm39)		probably benign	Het
Ankrd55	A	G	13: 112,517,767 (GRCm39)		probably benign	Het
Arhgef39	T	C	4: 43,496,834 (GRCm39)	T327A	probably benign	Het
Calhm5	T	G	10: 33,972,013 (GRCm39)	I141L	probably benign	Het
Cdan1	G	A	2: 120,551,083 (GRCm39)	A1103V	probably damaging	Het
Cdk17	T	A	10: 93,074,895 (GRCm39)	Y3*	probably null	Het
Cdon	T	C	9: 35,367,733 (GRCm39)		probably benign	Het
Cntn3	T	A	6: 102,222,119 (GRCm39)	N460I	probably benign	Het
Cntrl	T	A	2: 35,050,639 (GRCm39)	C985S	possibly damaging	Het
Col6a2	T	C	10: 76,443,574 (GRCm39)	E497G	probably benign	Het
Crybg1	A	G	10: 43,875,089 (GRCm39)	M673T	possibly damaging	Het
Csmd1	A	C	8: 15,971,174 (GRCm39)	I3047S	probably benign	Het
Cyp2u1	A	G	3: 131,087,258 (GRCm39)	I441T	possibly damaging	Het
Disp2	T	C	2: 118,620,920 (GRCm39)	S551P	probably damaging	Het
Dstyk	A	G	1: 132,381,063 (GRCm39)		probably benign	Het
Frem1	T	C	4: 82,868,557 (GRCm39)	S1457G	probably damaging	Het
Gabbr2	C	T	4: 46,718,838 (GRCm39)	C613Y	probably damaging	Het
Gdf7	C	A	12: 8,351,555 (GRCm39)		probably benign	Het
Hnrnpul2	A	G	19: 8,804,110 (GRCm39)	R570G	probably damaging	Het
Ift70a1	A	T	2: 75,810,320 (GRCm39)	C588S	probably damaging	Het
Iqcf4	T	C	9: 106,445,860 (GRCm39)	I96V	probably benign	Het
Iqck	G	A	7: 118,498,880 (GRCm39)	D173N	possibly damaging	Het
Itpr3	C	T	17: 27,329,529 (GRCm39)	H1518Y	probably benign	Het
Kdm5d	T	A	Y: 910,539 (GRCm39)	L250H	probably damaging	Het
Kntc1	C	T	5: 123,937,965 (GRCm39)		probably benign	Het
Lmtk3	T	A	7: 45,444,427 (GRCm39)		probably benign	Het
Lpin3	A	G	2: 160,735,999 (GRCm39)	D93G	probably benign	Het
Ncoa6	A	T	2: 155,253,440 (GRCm39)		probably benign	Het
Nup160	A	G	2: 90,563,563 (GRCm39)		probably benign	Het
Oit3	G	A	10: 59,264,016 (GRCm39)	R373C	probably damaging	Het
Olfml2a	A	T	2: 38,849,765 (GRCm39)	I494L	probably damaging	Het
Opa3	A	G	7: 18,962,524 (GRCm39)		probably benign	Het
Or51e2	A	G	7: 102,392,214 (GRCm39)		probably benign	Het
Or5ac15	A	T	16: 58,940,187 (GRCm39)	V82D	probably damaging	Het
Or9r7	A	G	10: 129,962,522 (GRCm39)	Y135H	probably damaging	Het
Pak3	TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	X: 142,526,889 (GRCm39)		probably benign	Het
Parp6	G	T	9: 59,556,847 (GRCm39)	C584F	probably damaging	Het
Pcgf2	A	G	11: 97,582,676 (GRCm39)		probably benign	Het
Pde3a	T	C	6: 141,405,042 (GRCm39)		probably benign	Het
Pitrm1	A	G	13: 6,608,280 (GRCm39)	D335G	probably benign	Het
Pkhd1	A	T	1: 20,187,708 (GRCm39)	N3533K	probably benign	Het
Pkp4	T	C	2: 59,169,109 (GRCm39)	L752P	probably damaging	Het
Plcb3	C	A	19: 6,939,281 (GRCm39)	E566*	probably null	Het
Ppef2	T	C	5: 92,392,689 (GRCm39)	K261R	probably benign	Het
Prdm14	A	G	1: 13,184,585 (GRCm39)	S529P	probably damaging	Het
Prune2	T	C	19: 17,102,586 (GRCm39)	S2582P	probably benign	Het
Sardh	G	A	2: 27,081,931 (GRCm39)	T865I	possibly damaging	Het
Slc26a3	A	T	12: 31,515,812 (GRCm39)	I571F	possibly damaging	Het
Slc5a5	A	T	8: 71,342,864 (GRCm39)	M232K	probably benign	Het
Slc9a1	T	A	4: 133,097,859 (GRCm39)	M2K	probably benign	Het
Spata31e3	A	T	13: 50,402,296 (GRCm39)	D83E	possibly damaging	Het
Ss18l1	G	A	2: 179,697,647 (GRCm39)	S177N	possibly damaging	Het
Svs5	A	T	2: 164,175,507 (GRCm39)	I120L	probably benign	Het
Tcl1b1	G	T	12: 105,126,074 (GRCm39)	V19F	probably damaging	Het
Tmem108	C	T	9: 103,361,889 (GRCm39)	V566M	probably damaging	Het
Trmu	C	A	15: 85,763,604 (GRCm39)	C9*	probably null	Het
Vnn1	A	T	10: 23,775,499 (GRCm39)	I250F	possibly damaging	Het
Vps13c	T	A	9: 67,879,285 (GRCm39)	Y3409N	probably damaging	Het
Xrn1	T	A	9: 95,873,322 (GRCm39)	N695K	probably benign	Het
Zfp84	T	A	7: 29,470,797 (GRCm39)	M1K	probably null	Het
Zfyve26	G	A	12: 79,326,841 (GRCm39)	R761C	probably damaging	Het
Zp3r	A	G	1: 130,505,621 (GRCm39)		probably null	Het

Other mutations in Nudt7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01554:Nudt7	APN	8	114,874,625 (GRCm39)	splice site	probably benign
IGL02549:Nudt7	APN	8	114,878,688 (GRCm39)	missense	probably damaging	1.00
R0525:Nudt7	UTSW	8	114,878,392 (GRCm39)	critical splice acceptor site	probably null
R5167:Nudt7	UTSW	8	114,878,567 (GRCm39)	nonsense	probably null
R5198:Nudt7	UTSW	8	114,862,185 (GRCm39)	splice site	probably null
R5562:Nudt7	UTSW	8	114,874,723 (GRCm39)	missense	probably damaging	1.00
R5597:Nudt7	UTSW	8	114,878,506 (GRCm39)	missense	probably benign	0.12
R6957:Nudt7	UTSW	8	114,860,385 (GRCm39)	missense	probably benign	0.03
R7410:Nudt7	UTSW	8	114,860,559 (GRCm39)	intron	probably benign
R8245:Nudt7	UTSW	8	114,863,080 (GRCm39)	missense	probably damaging	0.99
R8248:Nudt7	UTSW	8	114,878,737 (GRCm39)	missense	probably benign	0.08
R9602:Nudt7	UTSW	8	114,878,499 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGTCACTGTCACACACCATGC -3'
(R):5'- TGGCTGTCCTCAACAATAAGGTGAGT -3'

Sequencing Primer
(F):5'- GCAAACAAGCAGCATAAAGCATAG -3'
(R):5'- gaggcaggaggatgacaag -3'

Posted On

2013-10-16