Mutagenetix > Incidental Mutation

Incidental Mutation 'R8248:Nudt7'

640376

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

067675-MU

Accession Numbers

Essential gene?

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

Stock #

R8248 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

114860314-114881471 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 114878737 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 255 (Y255C)

Ref Sequence

ENSEMBL: ENSMUSP00000104737 (fasta)

Gene Model

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

AlphaFold

Q99P30

Predicted Effect

probably benign
Transcript: ENSMUST00000066514
AA Change: Y202C

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000065791
Gene: ENSMUSG00000031767
AA Change: Y202C

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

Predicted Effect

probably benign
Transcript: ENSMUST00000073521
AA Change: Y231C

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000073213
Gene: ENSMUSG00000031767
AA Change: Y231C

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

Predicted Effect

probably benign
Transcript: ENSMUST00000109109
AA Change: Y255C

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000104737
Gene: ENSMUSG00000031767
AA Change: Y255C

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
AA Change: Y211C

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000114598
Gene: ENSMUSG00000031767
AA Change: Y211C

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (60/60)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930003A15Rik	T	C	16: 19,702,556 (GRCm39)	D24G	noncoding transcript	Het
Adam32	A	G	8: 25,391,486 (GRCm39)	S343P	possibly damaging	Het
Agbl2	G	A	2: 90,627,908 (GRCm39)	G238R	probably damaging	Het
Ahi1	T	A	10: 20,847,991 (GRCm39)	D466E	probably benign	Het
Ahnak	T	A	19: 8,979,310 (GRCm39)	V198E	probably damaging	Het
Ank2	T	A	3: 126,731,434 (GRCm39)	H658L	possibly damaging	Het
Atp8b5	T	A	4: 43,366,072 (GRCm39)	I781N	probably damaging	Het
Bloc1s6	A	T	2: 122,584,565 (GRCm39)	R47*	probably null	Het
Clk2	G	A	3: 89,080,811 (GRCm39)	V266M	probably damaging	Het
Cul9	A	C	17: 46,840,940 (GRCm39)	Y777D	probably damaging	Het
Dcp1a	A	G	14: 30,244,883 (GRCm39)	T570A	possibly damaging	Het
Dcp1a	C	T	14: 30,201,555 (GRCm39)		probably benign	Het
Dnajb2	T	G	1: 75,220,226 (GRCm39)	D248E		Het
Dpy19l1	T	C	9: 24,414,191 (GRCm39)	H79R	probably benign	Het
Elmo1	T	C	13: 20,784,371 (GRCm39)	S643P	probably damaging	Het
Evi5	A	G	5: 107,966,753 (GRCm39)		probably null	Het
Fam76b	T	C	9: 13,742,398 (GRCm39)	C110R	probably damaging	Het
Galnt7	T	A	8: 57,991,222 (GRCm39)	K429N	probably benign	Het
Gm10142	T	A	10: 77,551,950 (GRCm39)	C104S	probably damaging	Het
Gm7298	A	C	6: 121,764,402 (GRCm39)	H1427P	probably benign	Het
Golga7b	A	T	19: 42,255,310 (GRCm39)	I87F	probably damaging	Het
Gpr165	C	A	X: 95,757,623 (GRCm39)	D7E	probably benign	Het
Gpr25	C	A	1: 136,188,415 (GRCm39)	R66L	probably benign	Het
H2-Q2	A	G	17: 35,563,841 (GRCm39)	N241D	probably benign	Het
Il1a	T	C	2: 129,144,881 (GRCm39)	D179G	probably benign	Het
Itch	T	C	2: 155,048,303 (GRCm39)		probably null	Het
Itsn2	T	C	12: 4,712,052 (GRCm39)	V913A	probably benign	Het
Kdm1b	T	A	13: 47,225,354 (GRCm39)		probably benign	Het
Lama4	T	C	10: 38,937,375 (GRCm39)	I655T	possibly damaging	Het
Lats1	T	A	10: 7,581,667 (GRCm39)	S817R	probably damaging	Het
Lrrc8c	A	T	5: 105,755,733 (GRCm39)	M503L	probably benign	Het
Mast4	T	C	13: 102,875,229 (GRCm39)	T1380A	probably damaging	Het
Mfap1a	G	T	2: 121,336,976 (GRCm39)	T16K	possibly damaging	Het
Mroh2b	C	T	15: 4,960,586 (GRCm39)	T773I	probably benign	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Pfas	T	C	11: 68,891,089 (GRCm39)	T310A	probably damaging	Het
Pkhd1l1	T	G	15: 44,406,942 (GRCm39)	I2393R	probably damaging	Het
Pmm1	A	C	15: 81,844,932 (GRCm39)	L24R	possibly damaging	Het
Pram1	T	C	17: 33,860,138 (GRCm39)	V235A	probably benign	Het
Prg4	T	C	1: 150,330,877 (GRCm39)	T599A	unknown	Het
Prpf40b	A	G	15: 99,214,166 (GRCm39)	K812E	unknown	Het
Qars1	G	A	9: 108,386,651 (GRCm39)	A155T	probably benign	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Rgs6	A	G	12: 83,184,478 (GRCm39)		probably benign	Het
Rom1	T	A	19: 8,906,045 (GRCm39)	R165W	probably damaging	Het
Rps6kb2	T	A	19: 4,206,987 (GRCm39)		probably benign	Het
Ryr1	A	T	7: 28,768,546 (GRCm39)	W2808R	probably damaging	Het
Sh3gl1	A	G	17: 56,326,038 (GRCm39)		probably null	Het
Slc22a30	A	T	19: 8,347,563 (GRCm39)	M279K	probably benign	Het
Snx11	A	G	11: 96,660,759 (GRCm39)	S184P	unknown	Het
Srgap1	A	G	10: 121,640,722 (GRCm39)	C692R	probably damaging	Het
Srgap3	T	C	6: 112,700,104 (GRCm39)	N982S	probably damaging	Het
Stac	T	A	9: 111,422,813 (GRCm39)	D270V	probably benign	Het
Syn3	T	A	10: 85,970,885 (GRCm39)	I246F	probably benign	Het
Tnr	T	C	1: 159,719,663 (GRCm39)	V980A	probably damaging	Het
Usp17le	G	T	7: 104,419,001 (GRCm39)	A47E	possibly damaging	Het
Vmn2r118	T	C	17: 55,917,936 (GRCm39)	N192S	probably benign	Het
Zmym4	C	A	4: 126,799,162 (GRCm39)	V725L	possibly damaging	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
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
R9602:Nudt7	UTSW	8	114,878,499 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCTTCGAGTACAAAGACCC -3'
(R):5'- GGTAAAATTATTCTCCCCTGCCAG -3'

Sequencing Primer
(F):5'- ACCCTGAGACTGGTGTGAACTAC -3'
(R):5'- CCAGTGCATTTTTCCAGTTTTGAAAG -3'

Posted On

2020-07-28