Mutagenetix > Incidental Mutation

Incidental Mutation 'R8029:Nudt9'

617813

Institutional Source

Beutler Lab

Gene Symbol

Nudt9

Ensembl Gene

ENSMUSG00000029310

Gene Name

nudix (nucleoside diphosphate linked moiety X)-type motif 9

Synonyms

1190002C07Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.226) question?

Stock #

R8029 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

104046306-104065379 bp(+) (GRCm38)

Type of Mutation

start gained

DNA Base Change (assembly)

C to T at 104050611 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000114631 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031250] [ENSMUST00000128511] [ENSMUST00000134313] [ENSMUST00000148261] [ENSMUST00000150226]

AlphaFold

Q8BVU5

Predicted Effect

silent
Transcript: ENSMUST00000031250

SMART Domains

Protein: ENSMUSP00000031250
Gene: ENSMUSG00000029310

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
low complexity region	152	166	N/A	INTRINSIC
Pfam:NUDIX	189	334	1.2e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000128511

SMART Domains

Protein: ENSMUSP00000119820
Gene: ENSMUSG00000029310

Domain	Start	End	E-Value	Type
PDB:1QVJ\|A	9	158	1e-89	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000134313

SMART Domains

Protein: ENSMUSP00000117181
Gene: ENSMUSG00000029310

Domain	Start	End	E-Value	Type
PDB:1QVJ\|A	9	152	2e-84	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000148261

SMART Domains

Protein: ENSMUSP00000115170
Gene: ENSMUSG00000029310

Domain	Start	End	E-Value	Type
PDB:1QVJ\|A	9	110	2e-68	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000150226

SMART Domains

Protein: ENSMUSP00000114631
Gene: ENSMUSG00000029310

Domain	Start	End	E-Value	Type
low complexity region	102	116	N/A	INTRINSIC
Pfam:NUDIX	131	207	6.4e-9	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the Nudix hydrolase family. Nudix boxes are found in a family of diverse enzymes that catalyze the hydrolysis of nucleoside diphosphate derivatives. This enzyme is an ADP-ribose pyrophosphatase that catalyzes the hydrolysis of ADP-ribose to AMP and ribose-5-P. It requires divalent metal ions and an intact Nudix motif for enzymatic activity. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	T	C	13: 59,742,377	H543R	possibly damaging	Het
Acvr1c	A	G	2: 58,296,117	I118T	possibly damaging	Het
Alpk1	T	C	3: 127,729,285	D36G	possibly damaging	Het
Aox2	G	A	1: 58,343,668	V1036I	probably benign	Het
Arhgef1	T	C	7: 24,919,738	L468P	probably damaging	Het
Armc2	A	T	10: 41,927,000	L559Q	probably damaging	Het
Asb3	A	T	11: 31,101,180	R506*	probably null	Het
Asna1	T	C	8: 85,019,827	M131V	probably benign	Het
Aspm	A	G	1: 139,471,632	H1045R	probably benign	Het
Cacna1g	G	T	11: 94,409,738	R2099S	probably benign	Het
Cd177	C	T	7: 24,756,169	W309*	probably null	Het
Cd34	A	C	1: 194,958,552	M242L	probably benign	Het
Cdh24	T	A	14: 54,639,399	N49I	probably damaging	Het
Ces2b	A	G	8: 104,834,850	N192S	probably damaging	Het
Chsy3	A	G	18: 59,179,447	I331V	possibly damaging	Het
Disp1	A	G	1: 183,089,288	S523P	probably damaging	Het
Dlgap5	T	C	14: 47,416,440	H44R	probably benign	Het
Dnajc30	G	T	5: 135,064,332	A28S	probably benign	Het
Dsc2	C	T	18: 20,032,274	G881R	possibly damaging	Het
Exd1	A	T	2: 119,528,723	H226Q	probably damaging	Het
Gata6	T	A	18: 11,054,944	V291E	possibly damaging	Het
Gfi1b	A	T	2: 28,613,675		probably null	Het
Grk3	T	A	5: 112,961,642	I150L	probably benign	Het
Gstcd	C	T	3: 133,082,107	V277M	probably damaging	Het
Idua	T	C	5: 108,669,412	F17S	probably benign	Het
Ighg1	T	C	12: 113,329,145	K268R		Het
Lama1	G	T	17: 67,817,594	R2883M		Het
Lpar3	T	C	3: 146,240,963	M132T	probably benign	Het
Macf1	T	C	4: 123,444,892	T4351A	possibly damaging	Het
March6	A	G	15: 31,496,002		probably null	Het
Mbtps1	C	A	8: 119,547,805		probably benign	Het
Mctp1	T	C	13: 77,029,886	Y931H	probably damaging	Het
Mug2	A	G	6: 122,081,545		probably null	Het
Myh1	G	T	11: 67,211,240		probably null	Het
Mylk2	T	C	2: 152,920,299	S497P	probably damaging	Het
Nectin4	A	G	1: 171,386,687	D470G	probably benign	Het
Nop2	C	T	6: 125,144,420	P722S	possibly damaging	Het
Nphp1	T	C	2: 127,741,116	T626A	probably benign	Het
Olfr1145	A	G	2: 87,810,032	T71A	probably benign	Het
Olfr18	A	G	9: 20,314,347	F191S	possibly damaging	Het
Olfr512	T	A	7: 108,713,830	F159Y	possibly damaging	Het
Olfr835	T	C	9: 19,035,794	S224P	probably damaging	Het
Oplah	T	C	15: 76,305,696	Y143C	probably benign	Het
Osbpl1a	T	G	18: 12,914,521	E125D	probably benign	Het
P2ry1	C	A	3: 61,003,522	N27K	possibly damaging	Het
Palld	A	T	8: 61,877,312	I177N	probably damaging	Het
Plcl1	A	T	1: 55,696,078	I193L	probably benign	Het
Polr1a	T	A	6: 71,912,956	L53*	probably null	Het
Ppp1r9a	A	G	6: 5,057,518	E531G	possibly damaging	Het
Prex1	C	A	2: 166,575,603	Q1361H	probably benign	Het
Ptprc	T	C	1: 138,078,459	E795G	probably damaging	Het
Rars	C	T	11: 35,821,165	V295I	probably damaging	Het
Rnaseh2b	T	C	14: 62,353,548	V116A	possibly damaging	Het
Rnf43	T	A	11: 87,731,894	L480H	probably benign	Het
Rttn	A	G	18: 89,090,474	T1601A	not run	Het
Setd1a	C	G	7: 127,786,214	Q698E	probably benign	Het
Sh3gl3	T	C	7: 82,270,883	Y100H	probably benign	Het
Sis	T	C	3: 72,921,142	Y1200C	probably damaging	Het
Snx13	A	C	12: 35,119,886	H610P	probably damaging	Het
Spdl1	T	C	11: 34,822,592	R217G	probably benign	Het
Spop	G	A	11: 95,474,367	E113K	probably benign	Het
Sult2a3	G	A	7: 14,121,628	P101L	probably damaging	Het
Tbl1xr1	C	T	3: 22,200,436	H348Y	probably damaging	Het
Tmie	T	C	9: 110,867,487	T109A	possibly damaging	Het
Ttc12	A	G	9: 49,470,251	V140A	possibly damaging	Het
Ube2m	A	G	7: 13,036,597	L58P	probably damaging	Het
Urb1	A	G	16: 90,779,152	S839P	possibly damaging	Het
Vmn2r117	T	A	17: 23,477,770	D221V	probably benign	Het
Vps41	C	T	13: 18,823,785	Q263*	probably null	Het
Zfand3	A	T	17: 30,135,433	T75S	probably benign	Het
Zscan26	A	G	13: 21,445,350	C202R	probably damaging	Het

Other mutations in Nudt9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00492:Nudt9	APN	5	104061762	unclassified	probably benign
IGL01398:Nudt9	APN	5	104065113	makesense	probably null
IGL01910:Nudt9	APN	5	104054309	missense	probably damaging	0.96
IGL02441:Nudt9	APN	5	104065019	missense	probably benign	0.01
IGL03207:Nudt9	APN	5	104058226	splice site	probably benign
steady	UTSW	5	104058111	missense	probably damaging	1.00
streak	UTSW	5	104050621	start codon destroyed	possibly damaging	0.89
Struck	UTSW	5	104065038	nonsense	probably null
R0136:Nudt9	UTSW	5	104047106	missense	probably benign
R0227:Nudt9	UTSW	5	104061675	missense	possibly damaging	0.90
R0652:Nudt9	UTSW	5	104050601	missense	possibly damaging	0.48
R0755:Nudt9	UTSW	5	104065054	missense	probably damaging	0.98
R1156:Nudt9	UTSW	5	104050730	nonsense	probably null
R1462:Nudt9	UTSW	5	104065038	nonsense	probably null
R1462:Nudt9	UTSW	5	104065038	nonsense	probably null
R1962:Nudt9	UTSW	5	104065105	missense	probably benign
R2697:Nudt9	UTSW	5	104064993	missense	probably damaging	1.00
R2916:Nudt9	UTSW	5	104055558	missense	probably damaging	1.00
R3780:Nudt9	UTSW	5	104047106	missense	probably benign
R3972:Nudt9	UTSW	5	104047125	missense	probably benign	0.00
R4354:Nudt9	UTSW	5	104058111	missense	probably damaging	1.00
R5325:Nudt9	UTSW	5	104050621	start codon destroyed	possibly damaging	0.89
R5652:Nudt9	UTSW	5	104059780	missense	probably benign	0.19
R6087:Nudt9	UTSW	5	104050813	missense	probably benign	0.00
R6240:Nudt9	UTSW	5	104047089	missense	probably benign	0.31
R6241:Nudt9	UTSW	5	104054285	missense	probably damaging	0.98
R6280:Nudt9	UTSW	5	104065069	missense	probably benign
R6719:Nudt9	UTSW	5	104061696	missense	probably damaging	1.00
R6865:Nudt9	UTSW	5	104059679	missense	probably damaging	1.00
R7225:Nudt9	UTSW	5	104065100	missense	probably benign
R7629:Nudt9	UTSW	5	104050694	missense	possibly damaging	0.90
R7685:Nudt9	UTSW	5	104047080	nonsense	probably null
R8027:Nudt9	UTSW	5	104064927	splice site	probably benign
X0063:Nudt9	UTSW	5	104050694	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCAGGGTTTTGAGAGTCTCTC -3'
(R):5'- TCTGCTCACCTGATCTGAGG -3'

Sequencing Primer
(F):5'- AACAGCTTGCCTTAGAGGTC -3'
(R):5'- TCACCTGATCTGAGGGTCCG -3'

Posted On

2020-01-23