Mutagenetix > Incidental Mutation

Incidental Mutation 'R4275:Mettl21c'

324739

Institutional Source

Beutler Lab

Gene Symbol

Mettl21c

Ensembl Gene

ENSMUSG00000047343

Gene Name

methyltransferase 21C, AARS1 lysine

Synonyms

A530098C11Rik

MMRRC Submission

041646-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4275 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44048568-44059194 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 44049716 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 110 (V110I)

Ref Sequence

ENSEMBL: ENSMUSP00000061229 (fasta)

Gene Model

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

AlphaFold

Q8BLU2

Predicted Effect

probably damaging
Transcript: ENSMUST00000061421
AA Change: V110I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000061229
Gene: ENSMUSG00000047343
AA Change: V110I

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: ENSMUST00000162750

Meta Mutation Damage Score

0.3940

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.7%

Validation Efficiency

98% (43/44)

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cacna1e	T	C	1: 154,369,071 (GRCm39)	Y322C	probably damaging	Het
Camsap2	A	G	1: 136,198,614 (GRCm39)	V1462A	probably benign	Het
D3Ertd751e	C	A	3: 41,710,589 (GRCm39)		probably benign	Het
Dhcr7	C	T	7: 143,396,964 (GRCm39)	A152V	probably damaging	Het
Enpep	A	T	3: 129,125,927 (GRCm39)	N68K	probably benign	Het
Fam131b	G	A	6: 42,298,241 (GRCm39)	L43F	probably damaging	Het
Fbxl5	T	A	5: 43,920,114 (GRCm39)		probably benign	Het
Hspg2	C	T	4: 137,246,251 (GRCm39)	R1010C	probably damaging	Het
Hycc2	T	C	1: 58,569,092 (GRCm39)	T440A	probably benign	Het
Igf2	T	C	7: 142,209,523 (GRCm39)	M46V	probably benign	Het
Kntc1	T	A	5: 123,905,842 (GRCm39)	Y367N	probably damaging	Het
Mapk8ip2	T	C	15: 89,343,198 (GRCm39)	W647R	probably damaging	Het
Mrgprh	T	C	17: 13,096,114 (GRCm39)	L118P	probably damaging	Het
Myadm	A	G	7: 3,345,618 (GRCm39)	T127A	probably benign	Het
Myh10	A	T	11: 68,642,766 (GRCm39)		probably null	Het
Nadk	T	A	4: 155,668,712 (GRCm39)	Y128N	probably benign	Het
Or5g27	T	C	2: 85,410,207 (GRCm39)	V208A	probably benign	Het
Or8k39	T	C	2: 86,563,936 (GRCm39)	T7A	probably damaging	Het
Papolg	A	G	11: 23,818,378 (GRCm39)	I500T	probably benign	Het
Pkhd1	A	T	1: 20,128,608 (GRCm39)	C4032S	probably benign	Het
Rnase1	A	T	14: 51,383,327 (GRCm39)	L9Q	probably damaging	Het
Rspry1	G	T	8: 95,376,389 (GRCm39)	V304L	probably benign	Het
Sall2	C	A	14: 52,551,260 (GRCm39)	R643L	probably damaging	Het
Scpep1	T	C	11: 88,837,968 (GRCm39)		probably null	Het
Serpina3m	T	A	12: 104,355,375 (GRCm39)	I14N	probably damaging	Het
Smg6	A	C	11: 74,884,700 (GRCm39)		probably benign	Het
Suz12	T	C	11: 79,920,879 (GRCm39)	M593T	probably damaging	Het
Tmem139	A	G	6: 42,241,039 (GRCm39)	E208G	probably damaging	Het
Tnxb	A	G	17: 34,917,205 (GRCm39)	Y2200C	probably damaging	Het
Usp19	T	G	9: 108,375,893 (GRCm39)	V911G	probably damaging	Het
Vipr1	T	C	9: 121,493,684 (GRCm39)	L245P	probably damaging	Het
Vmn2r105	T	A	17: 20,448,902 (GRCm39)	I92F	probably damaging	Het
Zbtb47	T	A	9: 121,595,605 (GRCm39)	V576D	probably damaging	Het
Zfp518b	A	G	5: 38,829,071 (GRCm39)	V978A	probably damaging	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
R2316:Mettl21c	UTSW	1	44,052,792 (GRCm39)	missense	probably damaging	1.00
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'- AGCGGGATTCAGTTTCATACC -3'
(R):5'- GTTCAACTCAAGCAACAATGACTTG -3'

Sequencing Primer
(F):5'- GAACTCTGAACTTCCATGCATG -3'
(R):5'- GCAACAATGACTTGCTCCTGG -3'

Posted On

2015-06-24