Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03060:Ntmt2'

409397

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ntmt2

Ensembl Gene

ENSMUSG00000040113

Gene Name

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

Synonyms

Mettl11b, LOC240879

Accession Numbers

Essential gene?

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

Stock #

IGL03060

Quality Score

Status

Chromosome

Chromosomal Location

163529825-163552801 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 163544692 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 97 (D97G)

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: D97G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000124211
Gene: ENSMUSG00000040113
AA Change: D97G

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afap1l2	G	A	19: 56,902,682 (GRCm39)	Q720*	probably null	Het
Amph	A	G	13: 19,278,984 (GRCm39)	E153G	probably damaging	Het
Atad2	T	C	15: 57,985,842 (GRCm39)		probably benign	Het
Atosa	A	G	9: 74,917,450 (GRCm39)	D683G	probably damaging	Het
Cep152	C	T	2: 125,461,907 (GRCm39)		probably benign	Het
Cntn2	C	T	1: 132,456,678 (GRCm39)	V123I	probably benign	Het
Dhrs2	C	A	14: 55,474,775 (GRCm39)	Q137K	probably benign	Het
Fam124a	A	G	14: 62,843,353 (GRCm39)	Y287C	probably benign	Het
Flg2	C	T	3: 93,110,920 (GRCm39)	R983W	unknown	Het
Gm9637	G	A	14: 19,402,173 (GRCm38)		noncoding transcript	Het
Helz2	A	G	2: 180,871,015 (GRCm39)		probably null	Het
Iars1	G	A	13: 49,843,923 (GRCm39)		probably null	Het
Igll1	A	T	16: 16,680,291 (GRCm39)		probably null	Het
Iqch	A	G	9: 63,432,196 (GRCm39)	Y361H	probably damaging	Het
Lrp1b	A	T	2: 40,527,765 (GRCm39)	H105Q	probably benign	Het
Mapk6	A	G	9: 75,305,084 (GRCm39)	M111T	probably damaging	Het
Mrtfa	G	A	15: 80,929,523 (GRCm39)	R27W	probably damaging	Het
Mt1	T	A	8: 94,906,522 (GRCm39)		probably benign	Het
Myh7b	A	T	2: 155,474,671 (GRCm39)	D1768V	probably damaging	Het
Myo6	A	T	9: 80,168,159 (GRCm39)	Q441L	probably benign	Het
Nt5c3b	A	T	11: 100,327,045 (GRCm39)	Y84N	probably damaging	Het
Or1e29	A	G	11: 73,667,289 (GRCm39)	F288S	probably damaging	Het
Paxx	A	G	2: 25,350,196 (GRCm39)	L137P	probably damaging	Het
Ptprz1	T	C	6: 22,972,834 (GRCm39)	V248A	probably damaging	Het
Rif1	T	A	2: 52,002,149 (GRCm39)	C1868S	probably damaging	Het
Sec23a	A	T	12: 59,032,891 (GRCm39)	C403S	probably benign	Het
Skint4	G	A	4: 111,975,432 (GRCm39)	V131I	probably benign	Het
Sugp2	T	C	8: 70,695,837 (GRCm39)	V270A	possibly damaging	Het
Tmed9	A	G	13: 55,743,321 (GRCm39)	D151G	possibly damaging	Het
Tubgcp4	A	G	2: 121,007,071 (GRCm39)		probably benign	Het
Uaca	A	G	9: 60,777,148 (GRCm39)	R512G	probably damaging	Het
Unc80	A	G	1: 66,676,169 (GRCm39)	Y1999C	possibly damaging	Het
Vwf	T	A	6: 125,640,523 (GRCm39)	C2320S	probably damaging	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
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
R8374:Ntmt2	UTSW	1	163,530,617 (GRCm39)	missense	probably damaging	1.00
R8751:Ntmt2	UTSW	1	163,544,738 (GRCm39)	missense	probably benign	0.03

Posted On

2016-08-02