Mutagenetix > Incidental Mutation

Incidental Mutation 'R9661:Nudt12'

727611

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9661 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

59307104-59320317 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59316981 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 222 (D222G)

Ref Sequence

ENSEMBL: ENSMUSP00000025065 (fasta)

Gene Model

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

AlphaFold

Q9DCN1

Predicted Effect

probably benign
Transcript: ENSMUST00000025065
AA Change: D222G

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000025065
Gene: ENSMUSG00000024228
AA Change: D222G

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

probably benign
Transcript: ENSMUST00000174122
AA Change: D222G

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000133678
Gene: ENSMUSG00000024228
AA Change: D222G

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: 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.] 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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	T	A	5: 138,645,451 (GRCm39)	H445Q	possibly damaging	Het
Aadacl4	C	A	4: 144,340,287 (GRCm39)	P4Q	probably damaging	Het
Adgre1	A	G	17: 57,748,368 (GRCm39)	T523A	possibly damaging	Het
Arhgap32	A	G	9: 32,168,531 (GRCm39)	E838G	probably benign	Het
Atad5	G	T	11: 79,980,542 (GRCm39)		probably benign	Het
Card10	C	T	15: 78,683,318 (GRCm39)	R275H	probably damaging	Het
Cdh16	A	G	8: 105,345,612 (GRCm39)	V327A	probably benign	Het
Clip2	C	T	5: 134,533,616 (GRCm39)	R487Q	probably benign	Het
Cttnbp2	T	A	6: 18,429,151 (GRCm39)	Q159L		Het
D630003M21Rik	A	G	2: 158,047,673 (GRCm39)	L732P	possibly damaging	Het
Dgcr8	T	C	16: 18,098,579 (GRCm39)	I308V	possibly damaging	Het
Dhx9	A	G	1: 153,340,393 (GRCm39)	F702L	probably damaging	Het
Dpy19l1	T	C	9: 24,386,730 (GRCm39)	Y188C	probably damaging	Het
Eea1	T	C	10: 95,862,742 (GRCm39)	L888S	probably benign	Het
Elmo1	T	C	13: 20,469,531 (GRCm39)		probably null	Het
Fam186a	T	A	15: 99,842,492 (GRCm39)	I1251F	possibly damaging	Het
Fer1l4	G	A	2: 155,862,336 (GRCm39)	A1779V	probably damaging	Het
Fgfrl1	C	T	5: 108,853,841 (GRCm39)	T407I	probably benign	Het
Gkn1	T	C	6: 87,325,173 (GRCm39)	K79E	probably damaging	Het
Gm11564	C	T	11: 99,706,247 (GRCm39)	R61H	unknown	Het
Gpr107	T	C	2: 31,057,075 (GRCm39)	F56L	probably benign	Het
H2-T22	T	C	17: 36,353,371 (GRCm39)		probably benign	Het
Hs1bp3	T	C	12: 8,367,940 (GRCm39)	V63A	probably damaging	Het
Htr6	A	G	4: 138,801,963 (GRCm39)	I37T	probably damaging	Het
Kifc5b	T	C	17: 27,140,836 (GRCm39)		probably null	Het
Lrfn2	T	C	17: 49,403,650 (GRCm39)	I591T	probably benign	Het
Lrrc49	A	T	9: 60,573,582 (GRCm39)	I300N	probably damaging	Het
Lyst	A	G	13: 13,808,779 (GRCm39)	T150A	probably benign	Het
Myh11	T	C	16: 14,041,857 (GRCm39)	Q722R		Het
Nek9	T	C	12: 85,361,253 (GRCm39)	Q484R	possibly damaging	Het
Nfs1	A	T	2: 155,970,473 (GRCm39)	V280E	probably damaging	Het
Notch3	T	A	17: 32,373,792 (GRCm39)	D472V	probably damaging	Het
Nt5c1b	T	C	12: 10,425,450 (GRCm39)	V273A	probably damaging	Het
Nup98	G	A	7: 101,782,019 (GRCm39)	Q1204*	probably null	Het
Nwd2	A	T	5: 63,957,780 (GRCm39)	Y370F	probably damaging	Het
Oas3	A	T	5: 120,904,230 (GRCm39)	I548N	unknown	Het
Ogfr	A	T	2: 180,233,431 (GRCm39)	N78Y	probably damaging	Het
Or10ak11	A	T	4: 118,687,526 (GRCm39)	L36Q	probably benign	Het
Prkcq	A	T	2: 11,250,141 (GRCm39)	K153*	probably null	Het
Ptpdc1	T	A	13: 48,739,610 (GRCm39)	N607I	probably benign	Het
Rab5c	G	T	11: 100,606,917 (GRCm39)	Q221K	probably benign	Het
Ret	G	A	6: 118,150,437 (GRCm39)	T693I	probably benign	Het
Rnf20	A	G	4: 49,654,556 (GRCm39)	E871G	probably damaging	Het
Rtl1	G	T	12: 109,557,346 (GRCm39)	P1498T	possibly damaging	Het
Septin9	C	G	11: 117,245,751 (GRCm39)	R458G	possibly damaging	Het
Sh2d2a	T	C	3: 87,756,788 (GRCm39)		probably null	Het
Slc14a1	C	A	18: 78,152,807 (GRCm39)	A367S	probably damaging	Het
Slc16a4	T	A	3: 107,213,359 (GRCm39)	D451E	probably benign	Het
Slc36a3	A	G	11: 55,015,984 (GRCm39)	F390S	probably benign	Het
Slc4a2	T	A	5: 24,640,005 (GRCm39)	M576K	probably damaging	Het
Smim14	T	C	5: 65,610,533 (GRCm39)	H88R	possibly damaging	Het
Spata31e5	G	T	1: 28,816,536 (GRCm39)	H499N	probably benign	Het
Sspo	C	T	6: 48,455,272 (GRCm39)	Q3045*	probably null	Het
Supt7l	C	A	5: 31,680,403 (GRCm39)	R3M	probably damaging	Het
Tjap1	A	G	17: 46,571,092 (GRCm39)	W132R	probably damaging	Het
Tmem26	T	A	10: 68,559,838 (GRCm39)	W37R	probably damaging	Het
Tut7	T	C	13: 59,937,332 (GRCm39)	D1155G	probably damaging	Het
Vmn1r119	C	T	7: 20,746,224 (GRCm39)	V53M	possibly damaging	Het
Vmn2r54	A	T	7: 12,349,166 (GRCm39)	N805K	probably benign	Het
Zfp638	T	C	6: 83,923,320 (GRCm39)	V706A	probably damaging	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
R6477:Nudt12	UTSW	17	59,318,140 (GRCm39)	missense	probably benign	0.12
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
Z1177:Nudt12	UTSW	17	59,318,066 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ATGTGGCACCCAGATGCTAC -3'
(R):5'- CCTAGGTGGTAATAAAGAAAGCTCG -3'

Sequencing Primer
(F):5'- GCTCCAAATTGTTACCTACACAG -3'
(R):5'- TCGCAGCAGCCGGAAGTC -3'

Posted On

2022-10-06