Mutagenetix > Incidental Mutation

Incidental Mutation 'R8374:Ntmt2'

646565

Institutional Source

Beutler Lab

Gene Symbol

Ntmt2

Ensembl Gene

ENSMUSG00000040113

Gene Name

N-terminal Xaa-Pro-Lys N-methyltransferase 2

Synonyms

Mettl11b, LOC240879

MMRRC Submission

067742-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.125) question?

Stock #

R8374 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

163529825-163552801 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 163530617 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 274 (M274K)

Ref Sequence

ENSEMBL: ENSMUSP00000124211 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000159679] [ENSMUST00000160495]

AlphaFold

B2RXM4

Predicted Effect

probably damaging
Transcript: ENSMUST00000159679
AA Change: M274K

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

SMART Domains

Protein: ENSMUSP00000124211
Gene: ENSMUSG00000040113
AA Change: M274K

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_PK	64	278	5.7e-74	PFAM
Pfam:Methyltransf_11	121	220	4.1e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000160495

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts15	C	T	9: 30,814,002 (GRCm39)	G721E	probably benign	Het
Aip	A	T	19: 4,165,456 (GRCm39)	M170K	probably damaging	Het
Alms1	T	C	6: 85,585,973 (GRCm39)	I276T	probably benign	Het
Arid1b	C	T	17: 5,392,919 (GRCm39)	P2097S	possibly damaging	Het
Astn1	T	G	1: 158,329,803 (GRCm39)	N219K	probably damaging	Het
Cbx2	G	T	11: 118,918,969 (GRCm39)	R178L	probably damaging	Het
Clptm1	G	A	7: 19,372,081 (GRCm39)	P252S	probably benign	Het
Crebbp	A	G	16: 3,902,175 (GRCm39)	S2355P	probably damaging	Het
D130043K22Rik	C	A	13: 25,041,962 (GRCm39)	T297K	probably benign	Het
Ddx60	A	G	8: 62,427,205 (GRCm39)	D760G	probably benign	Het
Dgka	T	C	10: 128,557,112 (GRCm39)	N621S	probably benign	Het
Ear10	A	T	14: 44,160,645 (GRCm39)	C61S	probably damaging	Het
F12	A	T	13: 55,569,144 (GRCm39)	C238S	probably damaging	Het
Fen1	A	G	19: 10,177,824 (GRCm39)	F207L	probably benign	Het
Fzr1	A	G	10: 81,203,368 (GRCm39)	L486P	probably damaging	Het
Gdnf	A	G	15: 7,864,176 (GRCm39)	R196G	probably benign	Het
Gldc	A	C	19: 30,114,594 (GRCm39)	F439V	probably damaging	Het
Gm3138	T	C	14: 4,251,688 (GRCm38)	M120T	probably damaging	Het
Gpi1	G	A	7: 33,920,082 (GRCm39)	A197V	probably benign	Het
Ighv1-4	T	A	12: 114,450,899 (GRCm39)	I70F	probably benign	Het
Il19	A	T	1: 130,866,893 (GRCm39)	L29Q	probably damaging	Het
Kank1	A	T	19: 25,389,005 (GRCm39)	I893F	probably damaging	Het
Kcnq5	G	A	1: 21,549,648 (GRCm39)	R360C	probably damaging	Het
Kif13b	T	C	14: 65,025,884 (GRCm39)	S1414P	probably damaging	Het
Miga2	AAGAG	AAG	2: 30,265,755 (GRCm39)		probably null	Het
Mosmo	T	A	7: 120,329,715 (GRCm39)	M112K	probably benign	Het
Or2d2b	A	G	7: 106,706,033 (GRCm39)	F12L	probably damaging	Het
Or2h1b	C	A	17: 37,462,636 (GRCm39)	V76F	probably damaging	Het
Or2w3b	T	A	11: 58,623,724 (GRCm39)	D89V	probably damaging	Het
Pak6	G	A	2: 118,524,477 (GRCm39)	V497I	probably benign	Het
Ppargc1b	G	A	18: 61,443,564 (GRCm39)	S549F	probably damaging	Het
Rassf8	T	A	6: 145,760,863 (GRCm39)	L63*	probably null	Het
Rptn	G	T	3: 93,303,602 (GRCm39)	G312*	probably null	Het
Rsph14	T	C	10: 74,797,481 (GRCm39)	I169V	probably benign	Het
Sltm	A	G	9: 70,469,227 (GRCm39)	D162G	probably null	Het
Tatdn1	C	T	15: 58,788,000 (GRCm39)		probably null	Het
Tbx4	A	C	11: 85,805,102 (GRCm39)	E397A	probably benign	Het
Tdrd12	T	C	7: 35,177,486 (GRCm39)	D956G	unknown	Het
Tnr	G	A	1: 159,685,953 (GRCm39)	V395I	probably benign	Het
Ugt1a2	A	T	1: 88,129,107 (GRCm39)	H250L	possibly damaging	Het
Vmn1r173	C	T	7: 23,401,920 (GRCm39)	H52Y	probably damaging	Het
Vps11	T	C	9: 44,267,706 (GRCm39)	D302G	probably benign	Het
Zfp398	T	C	6: 47,836,468 (GRCm39)		probably null	Het

Other mutations in Ntmt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01729:Ntmt2	APN	1	163,552,572 (GRCm39)	missense	probably damaging	1.00
IGL01973:Ntmt2	APN	1	163,544,689 (GRCm39)	missense	probably benign	0.00
IGL02418:Ntmt2	APN	1	163,530,725 (GRCm39)	missense	probably damaging	1.00
IGL02597:Ntmt2	APN	1	163,544,656 (GRCm39)	missense	probably benign	0.00
IGL03060:Ntmt2	APN	1	163,544,692 (GRCm39)	missense	probably damaging	1.00
IGL03162:Ntmt2	APN	1	163,530,783 (GRCm39)	missense	probably damaging	0.98
R4569:Ntmt2	UTSW	1	163,530,586 (GRCm39)	makesense	probably null
R4618:Ntmt2	UTSW	1	163,552,597 (GRCm39)	missense	probably damaging	1.00
R4888:Ntmt2	UTSW	1	163,530,633 (GRCm39)	missense	probably benign	0.11
R5165:Ntmt2	UTSW	1	163,550,092 (GRCm39)	missense	probably benign	0.01
R6353:Ntmt2	UTSW	1	163,531,680 (GRCm39)	missense	possibly damaging	0.94
R6503:Ntmt2	UTSW	1	163,531,715 (GRCm39)	missense	probably damaging	1.00
R7726:Ntmt2	UTSW	1	163,530,753 (GRCm39)	missense	probably benign	0.27
R8092:Ntmt2	UTSW	1	163,544,819 (GRCm39)	missense	probably damaging	1.00
R8751:Ntmt2	UTSW	1	163,544,738 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- CAGGGAGTATGCATCTAAATGTGC -3'
(R):5'- TCATACTGAAGGACAATGTGGC -3'

Sequencing Primer
(F):5'- CACAGTGTGTGCATTATGGTAGCAAG -3'
(R):5'- CACGGGAGGGCTGTATCTTC -3'

Posted On

2020-09-02