Mutagenetix > Incidental Mutation

Incidental Mutation 'R2316:Mettl21c'

245471

Institutional Source

Beutler Lab

Gene Symbol

Mettl21c

Ensembl Gene

ENSMUSG00000047343

Gene Name

methyltransferase 21C, AARS1 lysine

Synonyms

A530098C11Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2316 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44048568-44059194 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 44052792 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 75 (V75E)

Ref Sequence

ENSEMBL: ENSMUSP00000061229 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061421]

AlphaFold

Q8BLU2

Predicted Effect

probably damaging
Transcript: ENSMUST00000061421
AA Change: V75E

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

SMART Domains

Protein: ENSMUSP00000061229
Gene: ENSMUSG00000047343
AA Change: V75E

Domain	Start	End	E-Value	Type
Pfam:PrmA	50	163	4.6e-6	PFAM
Pfam:Methyltransf_16	56	224	3.3e-32	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159881

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161575

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162750

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563I02Rik	A	G	14: 60,333,519 (GRCm39)		probably benign	Het
Acaca	T	C	11: 84,154,906 (GRCm39)	M987T	probably benign	Het
Acaca	A	G	11: 84,185,809 (GRCm39)	T115A	possibly damaging	Het
Aknad1	A	T	3: 108,688,472 (GRCm39)	D600V	probably damaging	Het
Arfgef3	T	A	10: 18,492,701 (GRCm39)	T1237S	probably benign	Het
Brd4	A	T	17: 32,431,884 (GRCm39)	L660Q	probably benign	Het
Casp1	A	G	9: 5,306,213 (GRCm39)	D366G	possibly damaging	Het
Casp8ap2	C	A	4: 32,643,781 (GRCm39)	S951R	probably benign	Het
Chd9	A	G	8: 91,777,756 (GRCm39)	E2589G	probably damaging	Het
Dchs1	T	C	7: 105,413,411 (GRCm39)	T1135A	possibly damaging	Het
Dnhd1	T	C	7: 105,323,628 (GRCm39)	V633A	probably damaging	Het
Dock6	G	T	9: 21,750,973 (GRCm39)	H400Q	probably damaging	Het
Dzip1	A	G	14: 119,138,952 (GRCm39)	F426L	probably benign	Het
Elovl4	A	G	9: 83,662,826 (GRCm39)	S236P	probably damaging	Het
Emp1	T	C	6: 135,357,123 (GRCm39)	F67S	probably damaging	Het
Garnl3	A	G	2: 32,895,164 (GRCm39)	L635P	probably damaging	Het
Htr7	C	A	19: 35,946,703 (GRCm39)		probably null	Het
Kcnd3	A	C	3: 105,576,442 (GRCm39)	S629R	probably benign	Het
Lrp2	T	A	2: 69,322,191 (GRCm39)	I1913F	possibly damaging	Het
Med19	T	A	2: 84,516,587 (GRCm39)	D208E	probably benign	Het
Nhsl3	T	C	4: 129,117,540 (GRCm39)	T375A	probably damaging	Het
Nsd1	A	T	13: 55,381,779 (GRCm39)	R64S	probably damaging	Het
Or10g3b	A	G	14: 52,587,395 (GRCm39)	I36T	probably benign	Het
Or51v8	A	T	7: 103,319,674 (GRCm39)	I188N	probably damaging	Het
Or5p50	T	A	7: 107,422,007 (GRCm39)	Y223F	probably benign	Het
Peds1	T	A	2: 167,496,635 (GRCm39)	Q46L	possibly damaging	Het
Plat	T	A	8: 23,266,881 (GRCm39)	M291K	probably benign	Het
Psmb4	T	C	3: 94,792,322 (GRCm39)	E200G	probably benign	Het
Reln	T	C	5: 22,359,954 (GRCm39)	Y190C	probably benign	Het
Rp1	A	G	1: 4,415,863 (GRCm39)	S1750P	probably damaging	Het
Slc5a4a	T	A	10: 76,013,915 (GRCm39)		probably null	Het
Sobp	A	T	10: 43,034,034 (GRCm39)	N97K	possibly damaging	Het
Stac3	T	C	10: 127,339,229 (GRCm39)		probably null	Het
Stat5b	G	T	11: 100,687,318 (GRCm39)	T436K	probably damaging	Het
Tas1r3	A	T	4: 155,947,772 (GRCm39)	M7K	probably benign	Het
Vps13b	C	T	15: 35,675,045 (GRCm39)	Q1722*	probably null	Het
Zfp677	A	T	17: 21,617,582 (GRCm39)	Y213F	probably benign	Het

Other mutations in Mettl21c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0200:Mettl21c	UTSW	1	44,052,814 (GRCm39)	missense	probably damaging	1.00
R1497:Mettl21c	UTSW	1	44,048,951 (GRCm39)	missense	probably benign	0.02
R1530:Mettl21c	UTSW	1	44,056,344 (GRCm39)	critical splice donor site	probably null
R1952:Mettl21c	UTSW	1	44,056,368 (GRCm39)	missense	probably damaging	0.98
R4275:Mettl21c	UTSW	1	44,049,716 (GRCm39)	missense	probably damaging	0.99
R5819:Mettl21c	UTSW	1	44,048,882 (GRCm39)	missense	probably damaging	1.00
R7117:Mettl21c	UTSW	1	44,049,808 (GRCm39)	missense	probably damaging	1.00
R9179:Mettl21c	UTSW	1	44,049,142 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- ATACTGTATGTCTGAAGAGCCC -3'
(R):5'- CAGCTATTGATGGTTGTTCTCC -3'

Sequencing Primer
(F):5'- TGTCTGAAGAGCCCAAATTCCTGG -3'
(R):5'- ATTGATGGTTGTTCTCCTGTTAGAG -3'

Posted On

2014-10-30