Mutagenetix > Incidental Mutation

Incidental Mutation 'R1815:Nudt12'

202678

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

039843-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1815 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

59307104-59320317 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 59317131 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 172 (P172L)

Ref Sequence

ENSEMBL: ENSMUSP00000133678 (fasta)

Gene Model

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

AlphaFold

Q9DCN1

Predicted Effect

probably damaging
Transcript: ENSMUST00000025065
AA Change: P172L

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000025065
Gene: ENSMUSG00000024228
AA Change: P172L

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 damaging
Transcript: ENSMUST00000174122
AA Change: P172L

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000133678
Gene: ENSMUSG00000024228
AA Change: P172L

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

0.1084

Coding Region Coverage

1x: 97.5%
3x: 96.8%
10x: 94.9%
20x: 90.5%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts4	A	G	1: 171,083,905 (GRCm39)	T492A	probably damaging	Het
Afg3l2	A	T	18: 67,548,643 (GRCm39)	L529*	probably null	Het
Ak9	A	G	10: 41,213,572 (GRCm39)	E259G	probably damaging	Het
Apol11b	T	A	15: 77,519,772 (GRCm39)	I103F	probably damaging	Het
Atp7b	T	C	8: 22,501,667 (GRCm39)	M864V	possibly damaging	Het
Atp8a2	A	G	14: 60,324,073 (GRCm39)	L60P	probably damaging	Het
Begain	T	C	12: 109,000,033 (GRCm39)	Y451C	probably damaging	Het
Bmpr1b	A	T	3: 141,586,124 (GRCm39)	I46N	probably benign	Het
Bms1	T	A	6: 118,360,742 (GRCm39)	K1242M	probably damaging	Het
Calcoco1	A	G	15: 102,622,358 (GRCm39)	L254P	probably damaging	Het
Ccdc112	A	T	18: 46,424,173 (GRCm39)	N188K	possibly damaging	Het
Cd84	A	G	1: 171,700,317 (GRCm39)	T145A	possibly damaging	Het
Cdkal1	A	G	13: 29,901,774 (GRCm39)	V132A	possibly damaging	Het
Cdo1	A	G	18: 46,853,369 (GRCm39)	C130R	probably damaging	Het
Cep295nl	G	T	11: 118,223,474 (GRCm39)	R457S	probably damaging	Het
Cntn1	A	T	15: 92,148,829 (GRCm39)	I359F	probably benign	Het
Csnk1g1	T	C	9: 65,939,606 (GRCm39)	V435A	probably damaging	Het
Csnka2ip	A	G	16: 64,298,855 (GRCm39)	V59A	probably benign	Het
Ddr2	A	T	1: 169,823,170 (GRCm39)	Y371*	probably null	Het
Dicer1	T	C	12: 104,688,410 (GRCm39)	E389G	probably damaging	Het
Dnah2	T	C	11: 69,366,400 (GRCm39)	I1901V	probably damaging	Het
Fanci	T	A	7: 79,088,056 (GRCm39)	I903N	probably damaging	Het
Fastk	T	C	5: 24,646,529 (GRCm39)	Q471R	probably damaging	Het
Flvcr1	A	T	1: 190,757,577 (GRCm39)	N238K	probably damaging	Het
Gsdmc3	A	T	15: 63,740,965 (GRCm39)	L61H	probably damaging	Het
H2-M10.5	T	A	17: 37,084,836 (GRCm39)	C187S	probably damaging	Het
Hmcn2	T	C	2: 31,283,055 (GRCm39)	I1977T	probably damaging	Het
Itpr2	T	A	6: 146,260,914 (GRCm39)	I905F	probably benign	Het
Jmy	C	T	13: 93,590,585 (GRCm39)	G506D	probably damaging	Het
Klf4	G	T	4: 55,530,977 (GRCm39)	R45S	probably benign	Het
Klhdc7b	A	G	15: 89,271,800 (GRCm39)	E894G	probably damaging	Het
Klra7	T	C	6: 130,201,070 (GRCm39)	I229V	probably benign	Het
Krt35	T	C	11: 99,986,565 (GRCm39)	T150A	probably benign	Het
Krtap20-1	T	C	16: 88,812,337 (GRCm39)		probably benign	Het
Lct	T	C	1: 128,227,896 (GRCm39)	Y1199C	probably damaging	Het
Lmbrd1	T	A	1: 24,724,642 (GRCm39)	N75K	possibly damaging	Het
Lss	T	C	10: 76,388,798 (GRCm39)	S700P	probably damaging	Het
Ltbp1	A	T	17: 75,559,375 (GRCm39)	Q288L	probably benign	Het
Mical2	A	G	7: 112,012,109 (GRCm39)	E653G	probably damaging	Het
Mphosph10	G	T	7: 64,041,918 (GRCm39)	Q9K	probably benign	Het
Muc15	T	A	2: 110,561,603 (GRCm39)	L13Q	probably damaging	Het
Ncf4	A	G	15: 78,134,602 (GRCm39)	D18G	probably benign	Het
Nipsnap1	A	G	11: 4,839,101 (GRCm39)	Y127C	probably damaging	Het
Nrbp1	T	A	5: 31,403,157 (GRCm39)	I210N	probably damaging	Het
Or8g18	T	C	9: 39,149,286 (GRCm39)	I145V	probably benign	Het
Otud4	T	A	8: 80,366,618 (GRCm39)	Y28*	probably null	Het
Pdcd2l	G	A	7: 33,885,826 (GRCm39)	T286I	probably benign	Het
Pgbd1	A	G	13: 21,607,342 (GRCm39)	V284A	probably damaging	Het
Phlpp2	C	A	8: 110,666,855 (GRCm39)	T1128K	probably damaging	Het
Pik3cb	A	G	9: 98,975,148 (GRCm39)	V244A	possibly damaging	Het
Pld1	A	G	3: 28,163,917 (GRCm39)	I783M	probably benign	Het
Plk5	T	C	10: 80,199,855 (GRCm39)	V454A	probably benign	Het
Prkci	T	C	3: 31,092,644 (GRCm39)	S309P	probably damaging	Het
Prx	A	T	7: 27,216,090 (GRCm39)	D197V	probably damaging	Het
Ptpn5	A	G	7: 46,728,589 (GRCm39)	L537P	probably benign	Het
Rev3l	T	A	10: 39,698,867 (GRCm39)	N1121K	probably benign	Het
Rock2	T	A	12: 17,022,727 (GRCm39)	D1055E	probably benign	Het
Rrp1b	T	C	17: 32,275,785 (GRCm39)	V444A	probably benign	Het
Rsf1	GCG	GCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Rsf1	CG	CGACGGGG	7: 97,229,115 (GRCm39)		probably benign	Het
Rsf1	GGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	7: 97,229,113 (GRCm39)		probably benign	Het
S1pr2	G	A	9: 20,879,388 (GRCm39)	R147*	probably null	Het
Serpinb9b	A	T	13: 33,223,887 (GRCm39)	I360F	probably damaging	Het
Smc6	T	C	12: 11,344,602 (GRCm39)		probably null	Het
Srsf11	C	T	3: 157,722,064 (GRCm39)		probably benign	Het
Sstr1	T	C	12: 58,260,264 (GRCm39)	F296L	possibly damaging	Het
Tecrl	T	A	5: 83,427,081 (GRCm39)	I356L	probably benign	Het
Tln2	A	G	9: 67,136,705 (GRCm39)	I2348T	probably damaging	Het
Tmed11	T	A	5: 108,925,291 (GRCm39)	I174L	probably benign	Het
Tmem132a	G	A	19: 10,838,931 (GRCm39)	Q504*	probably null	Het
Unc5c	A	T	3: 141,463,518 (GRCm39)	D213V	probably damaging	Het
Utp25	A	C	1: 192,800,591 (GRCm39)	S410A	probably benign	Het
Vgll4	T	C	6: 114,841,020 (GRCm39)	D92G	probably benign	Het
Vps37a	T	C	8: 40,965,162 (GRCm39)	F5L	probably benign	Het
Zdhhc20	A	T	14: 58,127,600 (GRCm39)	V13E	probably benign	Het
Zeb1	G	A	18: 5,767,898 (GRCm39)	C803Y	probably damaging	Het
Zmym1	T	C	4: 126,942,814 (GRCm39)	T427A	possibly 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
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
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'- AGCAGCACCGGGTTCAATAC -3'
(R):5'- GGAAGAAGCCCTGGTTCCTAAC -3'

Sequencing Primer
(F):5'- GGTTCAATACCGAGGGCAAACC -3'
(R):5'- TTCCTAACCAATGAAGTAGACGAGTG -3'

Posted On

2014-06-23