Mutagenetix > Incidental Mutation

Incidental Mutation 'R5385:Nudt12'

425152

Institutional Source

Beutler Lab

Gene Symbol

Nudt12

Ensembl Gene

ENSMUSG00000024228

Gene Name

nudix (nucleoside diphosphate linked moiety X)-type motif 12

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5385 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58999618-59013372 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59003439 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 390 (W390R)

Ref Sequence

ENSEMBL: ENSMUSP00000025065 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025065] [ENSMUST00000174122]

AlphaFold

Q9DCN1

Predicted Effect

probably damaging
Transcript: ENSMUST00000025065
AA Change: W390R

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

SMART Domains

Protein: ENSMUSP00000025065
Gene: ENSMUSG00000024228
AA Change: W390R

Domain	Start	End	E-Value	Type
ANK	11	40	2.43e3	SMART
ANK	45	74	1.1e-6	SMART
ANK	78	108	2.55e2	SMART
Pfam:NUDIX-like	147	277	3.2e-10	PFAM
Pfam:zf-NADH-PPase	279	309	2.7e-10	PFAM
Pfam:NUDIX	322	447	8.1e-17	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145848

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152750

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174108

Predicted Effect

probably benign
Transcript: ENSMUST00000174122

SMART Domains

Protein: ENSMUSP00000133678
Gene: ENSMUSG00000024228

Domain	Start	End	E-Value	Type
ANK	11	40	2.43e3	SMART
ANK	45	74	1.1e-6	SMART
ANK	78	108	2.55e2	SMART
Pfam:NUDIX-like	147	277	2.4e-9	PFAM
Pfam:zf-NADH-PPase	279	311	5.9e-11	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Nucleotides are involved in numerous biochemical reactions and pathways within the cell as substrates, cofactors, and effectors. Nudix hydrolases, such as NUDT12, regulate the concentrations of individual nucleotides and of nucleotide ratios in response to changing circumstances (Abdelraheim et al., 2003 [PubMed 12790796]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 129 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd17a	T	C	10: 80,585,612	T175A	probably benign	Het
Adam23	A	G	1: 63,551,811	D479G	possibly damaging	Het
Adgrl3	T	G	5: 81,726,801	Y1050D	probably damaging	Het
Ago4	A	G	4: 126,517,556	I103T	probably benign	Het
Ajuba	T	C	14: 54,570,398	Y459C	probably damaging	Het
Aldh7a1	T	A	18: 56,534,253	N316Y	possibly damaging	Het
Alyref2	A	G	1: 171,503,703	N16S	probably benign	Het
Ankhd1	A	G	18: 36,591,495	E402G	probably damaging	Het
Ankrd36	A	G	11: 5,689,340		probably benign	Het
Ap2b1	T	C	11: 83,342,601	V480A	probably damaging	Het
Arhgap30	A	G	1: 171,408,280	R741G	probably benign	Het
Canx	A	G	11: 50,301,812	L325P	probably damaging	Het
Ccpg1	G	A	9: 73,013,044	S647N	probably benign	Het
Cdc37l1	T	G	19: 29,011,943	S267A	possibly damaging	Het
Ces1f	A	T	8: 93,265,760	C354*	probably null	Het
Col4a3bp	A	G	13: 96,629,067	T447A	possibly damaging	Het
Cpne1	A	T	2: 156,074,364	V350D	probably damaging	Het
Ctdsp2	A	G	10: 126,996,457	T262A	probably benign	Het
Cypt4	A	G	9: 24,625,300	K29E	possibly damaging	Het
Dlg2	T	C	7: 92,088,576	V422A	probably damaging	Het
Dmxl2	A	G	9: 54,378,757	S2715P	probably benign	Het
Dnah3	T	A	7: 119,924,903	K3953N	probably damaging	Het
Dnmt1	A	G	9: 20,918,480	V647A	probably damaging	Het
Duox2	A	G	2: 122,295,136	V330A	probably benign	Het
Dusp8	T	A	7: 142,089,993	Q61L	possibly damaging	Het
Dync2h1	T	C	9: 7,016,791	D3573G	probably damaging	Het
Ears2	G	C	7: 122,044,377	T426S	probably benign	Het
Ext1	C	A	15: 53,075,817	W612L	probably damaging	Het
Fam91a1	G	A	15: 58,448,394	S645N	probably benign	Het
Fat3	A	T	9: 15,922,675	L4207Q	possibly damaging	Het
Fbxo38	A	G	18: 62,540,971	M13T	probably benign	Het
Fbxo48	G	T	11: 16,954,329	L160F	possibly damaging	Het
Fer1l4	G	A	2: 156,037,366	Q906*	probably null	Het
Fpr2	C	A	17: 17,893,047	H102N	probably benign	Het
Gm10134	T	A	2: 28,506,360		probably benign	Het
Gm14085	C	A	2: 122,522,778	L480I	probably benign	Het
Gpr107	A	G	2: 31,214,251	T523A	probably benign	Het
Grin3a	G	A	4: 49,719,313	P811L	probably damaging	Het
Hivep1	A	T	13: 42,164,395		probably null	Het
Hmcn2	A	G	2: 31,460,321	T5077A	probably benign	Het
Hpse	C	T	5: 100,708,724	W136*	probably null	Het
Ifitm3	T	C	7: 141,010,641	N2S	probably benign	Het
Ifnar2	T	A	16: 91,404,198	D442E	possibly damaging	Het
Jade1	T	A	3: 41,591,702	I54N	probably damaging	Het
Jag1	A	T	2: 137,095,544	H303Q	possibly damaging	Het
Kcnh4	T	C	11: 100,752,250	D397G	probably damaging	Het
Kcnj1	A	G	9: 32,396,723	R148G	probably damaging	Het
Lct	T	G	1: 128,311,617	K277N	possibly damaging	Het
Loxl3	A	G	6: 83,050,612	M712V	probably damaging	Het
Ly75	A	G	2: 60,303,641	C1547R	probably damaging	Het
Marcks	A	G	10: 37,138,457	S27P	probably damaging	Het
Mef2c	A	G	13: 83,662,413	T347A	probably benign	Het
Mmp3	C	T	9: 7,451,759	R366*	probably null	Het
Mrgprx2	T	C	7: 48,483,005	T22A	probably benign	Het
Msc	C	A	1: 14,755,420	R110L	probably damaging	Het
Myh11	A	T	16: 14,208,008	V1366D	possibly damaging	Het
Ncf1	A	G	5: 134,221,805	L373P	probably damaging	Het
Neb	A	T	2: 52,189,861	I85N	probably damaging	Het
Nfkb1	A	G	3: 135,612,542	V310A	possibly damaging	Het
Nop2	T	C	6: 125,144,361	V702A	probably benign	Het
Olfr1115	C	T	2: 87,252,483	P182L	probably benign	Het
Olfr1418	T	A	19: 11,855,177	I259F	probably damaging	Het
Olfr160	A	T	9: 37,712,021	V86E	probably damaging	Het
Olfr251	A	T	9: 38,377,985	I29F	probably benign	Het
Olfr366	G	T	2: 37,219,587	A33S	possibly damaging	Het
Olfr430	A	T	1: 174,069,470	K57N	probably benign	Het
Olfr558	T	C	7: 102,709,346	L29P	probably damaging	Het
Olfr739	T	A	14: 50,425,389	V290E	possibly damaging	Het
Olfr784	A	G	10: 129,387,764	I44V	probably benign	Het
Olfr971	A	G	9: 39,839,830	Y132C	possibly damaging	Het
Otub2	G	A	12: 103,392,796		probably benign	Het
Pck2	A	G	14: 55,545,231	E339G	probably damaging	Het
Pdcd7	G	A	9: 65,358,692	W477*	probably null	Het
Pdpk1	G	A	17: 24,098,140	Q250*	probably null	Het
Pigb	T	A	9: 73,039,545	H16L	probably benign	Het
Pitpnm1	T	C	19: 4,103,435	F197S	probably damaging	Het
Plekhh2	T	C	17: 84,557,466	V94A	probably benign	Het
Pnpla7	C	A	2: 25,041,019	P882Q	probably damaging	Het
Pold2	A	G	11: 5,876,760	L58P	probably damaging	Het
Pomt1	C	G	2: 32,244,299	Y277*	probably null	Het
Prex2	A	G	1: 11,139,980	D548G	probably damaging	Het
Prkra	T	G	2: 76,639,278	T146P	probably damaging	Het
Prss51	T	A	14: 64,097,094	V108E	probably damaging	Het
Rai2	A	G	X: 161,778,640	N363S	probably benign	Het
Ranbp17	A	T	11: 33,219,241	V991D	possibly damaging	Het
Riox2	T	A	16: 59,486,616	M290K	probably benign	Het
Rnpepl1	T	A	1: 92,917,192	L402Q	probably damaging	Het
S1pr2	T	C	9: 20,967,594	T313A	probably benign	Het
Sesn2	A	G	4: 132,499,264	I173T	probably damaging	Het
Setx	T	G	2: 29,134,033		probably null	Het
Sfi1	ACA	ACATCTTCCCAAAGCCAGTCA	11: 3,153,382		probably benign	Het
Sgsm3	T	C	15: 81,007,999	V256A	probably benign	Het
Shroom4	T	A	X: 6,585,469	C894*	probably null	Het
Slc13a5	T	A	11: 72,259,077	E159D	probably benign	Het
Slc16a7	A	G	10: 125,294,604	Y71H	possibly damaging	Het
Slc4a7	T	C	14: 14,773,345	F772L	possibly damaging	Het
Snapc4	A	G	2: 26,374,503	S275P	probably benign	Het
Soga3	A	G	10: 29,196,770	D686G	probably benign	Het
Sorl1	T	C	9: 42,057,284	T558A	possibly damaging	Het
Sspo	C	T	6: 48,462,253	P1612S	probably benign	Het
Stard9	A	G	2: 120,700,630	E2456G	probably damaging	Het
Stx1b	A	T	7: 127,815,403	D16E	probably benign	Het
Supv3l1	A	T	10: 62,430,596	N600K	possibly damaging	Het
Syne1	C	T	10: 5,041,494	V557I	probably benign	Het
Tanc2	T	A	11: 105,776,846	D84E	probably damaging	Het
Tep1	A	T	14: 50,868,317	L82Q	probably damaging	Het
Tfip11	T	C	5: 112,331,220		probably null	Het
Thtpa	G	T	14: 55,095,833	R125L	probably damaging	Het
Tm9sf1	C	T	14: 55,642,844	G32D	possibly damaging	Het
Tmcc3	A	T	10: 94,579,153	N239I	probably damaging	Het
Tpd52	A	T	3: 8,931,195		probably null	Het
Traf6	T	A	2: 101,684,755	C85*	probably null	Het
Trim68	T	G	7: 102,678,783	D321A	probably damaging	Het
Trmt6	C	A	2: 132,808,783	A302S	probably benign	Het
Ttbk1	T	C	17: 46,447,632	D692G	probably benign	Het
Ttc17	A	T	2: 94,303,640	W1067R	probably damaging	Het
Ttc6	T	A	12: 57,643,035		probably null	Het
Txnrd2	T	G	16: 18,477,692	I468S	probably damaging	Het
Ube2b	A	T	11: 51,988,644	Y100N	probably damaging	Het
Ucn3	A	T	13: 3,941,474	F59L	probably benign	Het
Uggt1	A	G	1: 36,184,412	Y599H	probably damaging	Het
Ulk3	T	A	9: 57,590,740	I108N	possibly damaging	Het
Vav3	A	G	3: 109,527,475	M441V	possibly damaging	Het
Vmn2r1	T	A	3: 64,101,398	D499E	possibly damaging	Het
Vmn2r118	C	T	17: 55,611,565	G109D	probably benign	Het
Vmn2r5	T	A	3: 64,509,510	M76L	probably benign	Het
Vwa3a	A	G	7: 120,790,142	K68E	possibly damaging	Het
Zcchc6	A	T	13: 59,789,846		probably null	Het
Zmiz1	A	T	14: 25,649,813	Y459F	probably damaging	Het

Other mutations in Nudt12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02860:Nudt12	APN	17	59010435	missense	probably benign	0.01
IGL02904:Nudt12	APN	17	59010352	missense	probably benign	0.00
IGL03206:Nudt12	APN	17	59007672	missense	probably benign	0.00
R0121:Nudt12	UTSW	17	59007639	missense	possibly damaging	0.80
R0673:Nudt12	UTSW	17	59007622	critical splice donor site	probably null
R0761:Nudt12	UTSW	17	59011069	missense	probably benign	0.00
R1079:Nudt12	UTSW	17	59011037	splice site	probably benign
R1277:Nudt12	UTSW	17	59010136	missense	probably damaging	0.98
R1815:Nudt12	UTSW	17	59010136	missense	probably damaging	0.98
R1816:Nudt12	UTSW	17	59010136	missense	probably damaging	0.98
R1834:Nudt12	UTSW	17	59011076	missense	probably damaging	1.00
R2296:Nudt12	UTSW	17	59010049	missense	possibly damaging	0.85
R2415:Nudt12	UTSW	17	59006608	missense	probably damaging	0.99
R5011:Nudt12	UTSW	17	58996504	unclassified	probably benign
R5384:Nudt12	UTSW	17	59003439	missense	probably damaging	1.00
R5874:Nudt12	UTSW	17	59010284	nonsense	probably null
R6108:Nudt12	UTSW	17	59007749	missense	probably damaging	1.00
R6477:Nudt12	UTSW	17	59011145	missense	probably benign	0.12
R7030:Nudt12	UTSW	17	59003353	missense	probably benign	0.22
R7592:Nudt12	UTSW	17	59006594	missense	probably benign	0.02
R8252:Nudt12	UTSW	17	59011094	missense	probably damaging	0.99
R9661:Nudt12	UTSW	17	59009986	missense	probably benign	0.19
Z1177:Nudt12	UTSW	17	59011071	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ATACTTCCATGCTGCATGCC -3'
(R):5'- ATGAGTGAGCGTTCATTGAATG -3'

Sequencing Primer
(F):5'- TTCCATGCTGCATGCCCAAAC -3'
(R):5'- CTCTTTCCAGAGGGGTTTCAAAAATG -3'

Posted On

2016-08-04