Mutagenetix > Incidental Mutation

Incidental Mutation 'R0525:Nudt7'

48852

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

038718-MU

Accession Numbers

Essential gene?

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

Stock #

R0525 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

114860314-114881471 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to T at 114878392 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 null
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 null
Transcript: ENSMUST00000073521

SMART Domains

Protein: ENSMUSP00000073213
Gene: ENSMUSG00000031767

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

Predicted Effect

probably null
Transcript: ENSMUST00000109109

SMART Domains

Protein: ENSMUSP00000104737
Gene: ENSMUSG00000031767

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 null
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

0.9490

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.8%

Validation Efficiency

100% (72/72)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933440M02Rik	T	A	7: 124,930,671 (GRCm39)		noncoding transcript	Het
A930002H24Rik	A	G	17: 64,170,642 (GRCm39)	W49R	unknown	Het
Abca13	G	A	11: 9,243,371 (GRCm39)	V1745M	probably damaging	Het
Abca16	T	G	7: 120,065,033 (GRCm39)	Y563*	probably null	Het
Acot12	C	T	13: 91,908,186 (GRCm39)		probably benign	Het
Alms1	G	A	6: 85,564,742 (GRCm39)	A39T	unknown	Het
Arid5b	T	C	10: 67,933,676 (GRCm39)	D742G	possibly damaging	Het
Atp1a4	G	A	1: 172,067,255 (GRCm39)		probably benign	Het
AU021092	T	A	16: 5,035,725 (GRCm39)	E145V	possibly damaging	Het
Calr4	A	T	4: 109,099,461 (GRCm39)		probably benign	Het
Clip4	T	A	17: 72,106,093 (GRCm39)		probably null	Het
Cnpy4	A	T	5: 138,190,878 (GRCm39)	H180L	probably benign	Het
Cyp2j9	T	C	4: 96,467,802 (GRCm39)		probably null	Het
Dgkq	A	G	5: 108,802,481 (GRCm39)	S406P	probably damaging	Het
Dhx8	G	A	11: 101,654,754 (GRCm39)	C1014Y	probably damaging	Het
Dnah3	T	C	7: 119,527,977 (GRCm39)	Y3824C	probably damaging	Het
Donson	A	T	16: 91,483,133 (GRCm39)	H69Q	probably damaging	Het
Dppa3	A	G	6: 122,606,939 (GRCm39)	E143G	probably damaging	Het
Drg1	A	G	11: 3,212,545 (GRCm39)	F96L	probably damaging	Het
Dvl1	A	C	4: 155,940,052 (GRCm39)	T395P	probably damaging	Het
Eftud2	A	T	11: 102,730,079 (GRCm39)	V897D	probably damaging	Het
Enpp6	A	G	8: 47,535,478 (GRCm39)	N341S	possibly damaging	Het
F11	A	G	8: 45,706,086 (GRCm39)	F100L	probably benign	Het
Fas	T	C	19: 34,296,727 (GRCm39)	Y189H	probably damaging	Het
Galnt14	G	T	17: 73,852,076 (GRCm39)	S114R	probably damaging	Het
Gfpt2	A	G	11: 49,720,602 (GRCm39)	I528V	probably benign	Het
Glt6d1	A	G	2: 25,684,280 (GRCm39)	V242A	possibly damaging	Het
Grm1	A	T	10: 10,594,953 (GRCm39)		probably benign	Het
Gskip	G	A	12: 105,665,224 (GRCm39)	A88T	probably damaging	Het
Gtpbp1	A	G	15: 79,597,648 (GRCm39)	I348V	probably benign	Het
Hnrnpul1	C	A	7: 25,440,308 (GRCm39)	R316L	possibly damaging	Het
Il34	T	C	8: 111,474,915 (GRCm39)	E121G	probably damaging	Het
Lrr1	T	C	12: 69,215,685 (GRCm39)	L19P	probably damaging	Het
Mat2b	A	G	11: 40,573,496 (GRCm39)		probably benign	Het
Mettl21e	T	C	1: 44,245,542 (GRCm39)	K235E	probably damaging	Het
Mir124-2hg	T	A	3: 17,839,693 (GRCm39)	E126V	possibly damaging	Het
Myh15	A	G	16: 48,952,414 (GRCm39)	K828R	probably benign	Het
Myom3	A	G	4: 135,492,237 (GRCm39)	D127G	possibly damaging	Het
Nek5	C	A	8: 22,569,093 (GRCm39)		probably benign	Het
Or10ag56	A	T	2: 87,139,693 (GRCm39)	T187S	probably benign	Het
Or10d4c	T	G	9: 39,558,767 (GRCm39)	C248W	probably damaging	Het
Or1j4	T	C	2: 36,740,202 (GRCm39)	L48P	probably damaging	Het
Or4a67	G	A	2: 88,597,658 (GRCm39)	Q334*	probably null	Het
Or8k23	C	T	2: 86,186,619 (GRCm39)	V36I	probably benign	Het
Phyhd1	A	G	2: 30,171,040 (GRCm39)	H241R	probably damaging	Het
Pmch	T	C	10: 87,927,262 (GRCm39)		probably benign	Het
Ror1	A	G	4: 100,298,717 (GRCm39)	S697G	probably damaging	Het
Rslcan18	A	G	13: 67,260,322 (GRCm39)	V25A	probably benign	Het
Sema6b	T	C	17: 56,433,630 (GRCm39)	H426R	probably damaging	Het
Serpina3g	T	C	12: 104,204,598 (GRCm39)	F9S	probably damaging	Het
Serpinb12	T	A	1: 106,874,432 (GRCm39)	H52Q	probably benign	Het
Sh3gl1	T	C	17: 56,324,873 (GRCm39)	K294R	probably benign	Het
Sidt1	G	T	16: 44,079,809 (GRCm39)	T615K	possibly damaging	Het
Slc16a4	A	C	3: 107,205,255 (GRCm39)		probably benign	Het
Sned1	T	A	1: 93,199,696 (GRCm39)		probably null	Het
Sp2	A	T	11: 96,846,924 (GRCm39)		probably benign	Het
Steap1	T	A	5: 5,792,903 (GRCm39)	I3F	possibly damaging	Het
Stxbp5l	A	T	16: 36,950,159 (GRCm39)		probably null	Het
Tbc1d9	G	T	8: 83,995,614 (GRCm39)	V968F	probably benign	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Triobp	T	C	15: 78,858,098 (GRCm39)	L1233P	possibly damaging	Het
Trp53bp1	C	A	2: 121,082,349 (GRCm39)	A317S	probably null	Het
Trpc4ap	A	G	2: 155,482,398 (GRCm39)	F531L	possibly damaging	Het
Ugt1a10	C	T	1: 88,145,971 (GRCm39)	P473L	probably damaging	Het
Vmn1r86	T	C	7: 12,836,088 (GRCm39)	K213E	probably benign	Het
Vps8	G	A	16: 21,358,859 (GRCm39)		probably null	Het
Wnk1	A	T	6: 119,903,525 (GRCm39)	S2563T	probably damaging	Het
Yrdc	C	G	4: 124,745,559 (GRCm39)	R3G	probably damaging	Het
Zfp287	A	T	11: 62,606,070 (GRCm39)	V279E	probably benign	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
R0781:Nudt7	UTSW	8	114,862,111 (GRCm39)	intron	probably benign
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'- CGCAGATAATGCTTCTGCCTTGCTC -3'
(R):5'- TGCATGATGAAATCACGGCCAGAC -3'

Sequencing Primer
(F):5'- acacacacacacacacacac -3'
(R):5'- CCAGACTGTGTGATTTGCTTC -3'

Posted On

2013-06-12