Mutagenetix > Incidental Mutation

Incidental Mutation 'R6477:Nudt12'

516871

Institutional Source

Beutler Lab

Gene Symbol

Nudt12

Ensembl Gene

ENSMUSG00000024228

Gene Name

nudix hydrolase 12

Synonyms

nudix (nucleoside diphosphate linked moiety X)-type motif 12, 0610016O18Rik

MMRRC Submission

044609-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6477 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59307104-59320317 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 59318140 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Tyrosine at position 35 (S35Y)

Ref Sequence

ENSEMBL: ENSMUSP00000133678 (fasta)

Gene Model

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

AlphaFold

Q9DCN1

Predicted Effect

probably benign
Transcript: ENSMUST00000025065
AA Change: S35Y

PolyPhen 2 Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000025065
Gene: ENSMUSG00000024228
AA Change: S35Y

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

probably benign
Transcript: ENSMUST00000174122
AA Change: S35Y

PolyPhen 2 Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000133678
Gene: ENSMUSG00000024228
AA Change: S35Y

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

Meta Mutation Damage Score

0.1556

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.1%

Validation Efficiency

97% (60/62)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	T	C	11: 119,909,696 (GRCm39)	D23G	probably benign	Het
Abca14	T	C	7: 119,924,325 (GRCm39)	I1659T	probably benign	Het
Ankdd1a	C	T	9: 65,409,494 (GRCm39)	V481M	probably benign	Het
Ankfy1	G	A	11: 72,621,308 (GRCm39)	R198Q	possibly damaging	Het
Cfap161	T	A	7: 83,443,230 (GRCm39)	R20*	probably null	Het
Cops7a	A	T	6: 124,937,139 (GRCm39)	V184E	probably damaging	Het
Cpa3	T	C	3: 20,293,739 (GRCm39)	E83G	possibly damaging	Het
Crls1	C	T	2: 132,703,153 (GRCm39)	S201L	probably benign	Het
Cyp4f39	C	A	17: 32,700,791 (GRCm39)	S153R	probably damaging	Het
Ddx54	T	A	5: 120,759,843 (GRCm39)	I410N	probably damaging	Het
Dido1	T	A	2: 180,302,274 (GRCm39)	T1877S	probably benign	Het
Dip2c	A	G	13: 9,673,796 (GRCm39)	S1079G	probably damaging	Het
Dnhd1	G	A	7: 105,327,093 (GRCm39)	V681I	probably benign	Het
Dst	A	G	1: 34,247,809 (GRCm39)		probably null	Het
Eya2	A	G	2: 165,605,681 (GRCm39)	T362A	probably benign	Het
Garre1	A	G	7: 33,957,055 (GRCm39)		probably null	Het
Hgs	G	A	11: 120,360,481 (GRCm39)	V60M	probably damaging	Het
Inpp4b	A	G	8: 82,571,343 (GRCm39)		probably null	Het
Iqub	T	A	6: 24,449,744 (GRCm39)	N707I	probably damaging	Het
Kdr	C	A	5: 76,129,501 (GRCm39)	A129S	probably benign	Het
Lhcgr	A	T	17: 89,049,801 (GRCm39)	M575K	probably damaging	Het
Lsamp	G	T	16: 41,988,528 (GRCm39)		probably benign	Het
Mcm5	T	C	8: 75,839,230 (GRCm39)	V161A	probably benign	Het
Mmp14	A	T	14: 54,675,115 (GRCm39)	H249L	probably damaging	Het
Mroh5	A	G	15: 73,662,604 (GRCm39)	S405P	probably damaging	Het
Mroh9	C	A	1: 162,903,873 (GRCm39)	L46F	probably damaging	Het
Mtrr	A	T	13: 68,718,192 (GRCm39)	H357Q	probably damaging	Het
Myrf	G	A	19: 10,206,149 (GRCm39)	P89L	probably benign	Het
Mzb1	C	T	18: 35,781,311 (GRCm39)		probably null	Het
Naip6	A	G	13: 100,452,516 (GRCm39)	S182P	probably damaging	Het
Nmur2	A	T	11: 55,920,417 (GRCm39)	F276Y	probably damaging	Het
Or51h5	T	A	7: 102,577,585 (GRCm39)	V250E	probably damaging	Het
Or56b1	T	C	7: 104,284,886 (GRCm39)	S2P	probably benign	Het
Or9m1	A	G	2: 87,733,334 (GRCm39)	S229P	probably damaging	Het
Osbpl1a	T	C	18: 12,889,318 (GRCm39)	I541V	probably benign	Het
Parp4	A	G	14: 56,884,694 (GRCm39)	K1258E	probably benign	Het
Plcxd2	C	G	16: 45,801,022 (GRCm39)	K67N	probably damaging	Het
Pnpla6	A	G	8: 3,586,627 (GRCm39)	T930A	probably benign	Het
Pomt1	G	A	2: 32,138,728 (GRCm39)		probably null	Het
Ppp1r14bl	A	T	1: 23,140,861 (GRCm39)	L151Q	probably benign	Het
Pramel6	A	G	2: 87,340,946 (GRCm39)	Y426C	possibly damaging	Het
Prss27	A	G	17: 24,263,235 (GRCm39)	T83A	probably damaging	Het
Rbm27	T	A	18: 42,466,383 (GRCm39)	V915E	probably damaging	Het
Rnf114	T	A	2: 167,345,408 (GRCm39)	D10E	probably benign	Het
Sbk1	A	G	7: 125,890,350 (GRCm39)	E121G	probably damaging	Het
Senp6	A	T	9: 80,000,907 (GRCm39)	R39*	probably null	Het
Sergef	A	T	7: 46,283,250 (GRCm39)	I94N	probably benign	Het
Slc30a9	C	T	5: 67,485,867 (GRCm39)	R183W	probably benign	Het
Smurf1	C	T	5: 144,826,602 (GRCm39)	R414H	possibly damaging	Het
Sptb	A	T	12: 76,653,166 (GRCm39)	W1566R	probably damaging	Het
Tenm2	T	C	11: 35,901,334 (GRCm39)		probably null	Het
Tnni1	T	C	1: 135,733,304 (GRCm39)	V42A	probably benign	Het
Tnxb	A	G	17: 34,938,513 (GRCm39)	Y3098C	probably damaging	Het
Ubald2	T	C	11: 116,325,400 (GRCm39)	F46L	probably benign	Het
Ubqln5	G	A	7: 103,777,465 (GRCm39)	S453F	probably damaging	Het
Ubr3	A	T	2: 69,809,773 (GRCm39)	R1248*	probably null	Het
Utp20	A	G	10: 88,604,780 (GRCm39)	V1705A	probably benign	Het
Zfp60	G	A	7: 27,449,228 (GRCm39)	R632H	probably benign	Het
Zfp638	A	G	6: 83,942,560 (GRCm39)	Y957C	probably damaging	Het
Zfp825	A	T	13: 74,629,029 (GRCm39)	S162R	possibly damaging	Het
Zfp831	A	C	2: 174,545,960 (GRCm39)	K1355T	probably benign	Het

Other mutations in Nudt12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02860:Nudt12	APN	17	59,317,430 (GRCm39)	missense	probably benign	0.01
IGL02904:Nudt12	APN	17	59,317,347 (GRCm39)	missense	probably benign	0.00
IGL03206:Nudt12	APN	17	59,314,667 (GRCm39)	missense	probably benign	0.00
R0121:Nudt12	UTSW	17	59,314,634 (GRCm39)	missense	possibly damaging	0.80
R0673:Nudt12	UTSW	17	59,314,617 (GRCm39)	critical splice donor site	probably null
R0761:Nudt12	UTSW	17	59,318,064 (GRCm39)	missense	probably benign	0.00
R1079:Nudt12	UTSW	17	59,318,032 (GRCm39)	splice site	probably benign
R1277:Nudt12	UTSW	17	59,317,131 (GRCm39)	missense	probably damaging	0.98
R1815:Nudt12	UTSW	17	59,317,131 (GRCm39)	missense	probably damaging	0.98
R1816:Nudt12	UTSW	17	59,317,131 (GRCm39)	missense	probably damaging	0.98
R1834:Nudt12	UTSW	17	59,318,071 (GRCm39)	missense	probably damaging	1.00
R2296:Nudt12	UTSW	17	59,317,044 (GRCm39)	missense	possibly damaging	0.85
R2415:Nudt12	UTSW	17	59,313,603 (GRCm39)	missense	probably damaging	0.99
R5011:Nudt12	UTSW	17	59,303,499 (GRCm39)	unclassified	probably benign
R5384:Nudt12	UTSW	17	59,310,434 (GRCm39)	missense	probably damaging	1.00
R5385:Nudt12	UTSW	17	59,310,434 (GRCm39)	missense	probably damaging	1.00
R5874:Nudt12	UTSW	17	59,317,279 (GRCm39)	nonsense	probably null
R6108:Nudt12	UTSW	17	59,314,744 (GRCm39)	missense	probably damaging	1.00
R7030:Nudt12	UTSW	17	59,310,348 (GRCm39)	missense	probably benign	0.22
R7592:Nudt12	UTSW	17	59,313,589 (GRCm39)	missense	probably benign	0.02
R8252:Nudt12	UTSW	17	59,318,089 (GRCm39)	missense	probably damaging	0.99
R9661:Nudt12	UTSW	17	59,316,981 (GRCm39)	missense	probably benign	0.19
Z1177:Nudt12	UTSW	17	59,318,066 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACTGGACAGTGAGCTATTTCC -3'
(R):5'- TGCCTTTCCAAGATCAGCATC -3'

Sequencing Primer
(F):5'- TCCTAGCCCACTGATATAAATATGTC -3'
(R):5'- TCTGAACTCCACAGTTCA -3'

Posted On

2018-05-21