Mutagenetix > Incidental Mutation

Incidental Mutation 'R5462:Mettl3'

433080

Institutional Source

Beutler Lab

Gene Symbol

Mettl3

Ensembl Gene

ENSMUSG00000022160

Gene Name

methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit

Synonyms

M6A, 2310024F18Rik, Spo8

MMRRC Submission

043024-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5462 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

52532298-52542585 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 52537336 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 182 (Q182R)

Ref Sequence

ENSEMBL: ENSMUSP00000134577 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022766] [ENSMUST00000022767] [ENSMUST00000122962] [ENSMUST00000145875] [ENSMUST00000147768] [ENSMUST00000174853] [ENSMUST00000174351] [ENSMUST00000173138] [ENSMUST00000173896]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000022766

SMART Domains

Protein: ENSMUSP00000022766
Gene: ENSMUSG00000016831

Domain	Start	End	E-Value	Type
low complexity region	146	160	N/A	INTRINSIC
low complexity region	207	218	N/A	INTRINSIC
HMG	222	292	1.17e-18	SMART
low complexity region	307	339	N/A	INTRINSIC
low complexity region	435	476	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000022767
AA Change: Q182R

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000022767
Gene: ENSMUSG00000022160
AA Change: Q182R

Domain	Start	End	E-Value	Type
low complexity region	53	67	N/A	INTRINSIC
low complexity region	82	93	N/A	INTRINSIC
low complexity region	191	213	N/A	INTRINSIC
Pfam:MT-A70	389	550	9.9e-65	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000122962

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127797

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130550

Predicted Effect

probably benign
Transcript: ENSMUST00000145875

Predicted Effect

probably damaging
Transcript: ENSMUST00000147768
AA Change: Q182R

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000134577
Gene: ENSMUSG00000022160
AA Change: Q182R

Domain	Start	End	E-Value	Type
low complexity region	53	67	N/A	INTRINSIC
low complexity region	82	93	N/A	INTRINSIC
low complexity region	191	213	N/A	INTRINSIC
low complexity region	231	242	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000174853
AA Change: Q111R

PolyPhen 2 Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000133864
Gene: ENSMUSG00000022160
AA Change: Q111R

Domain	Start	End	E-Value	Type
low complexity region	120	142	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000174351
AA Change: Q131R

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000134732
Gene: ENSMUSG00000022160
AA Change: Q131R

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
low complexity region	31	42	N/A	INTRINSIC
low complexity region	140	162	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197394

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156611

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173546

Predicted Effect

probably benign
Transcript: ENSMUST00000173138

SMART Domains

Protein: ENSMUSP00000134018
Gene: ENSMUSG00000022160

Domain	Start	End	E-Value	Type
low complexity region	53	67	N/A	INTRINSIC
low complexity region	82	93	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173656

SMART Domains

Protein: ENSMUSP00000133759
Gene: ENSMUSG00000022160

Domain	Start	End	E-Value	Type
Pfam:MT-A70	1	60	8.6e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173896

SMART Domains

Protein: ENSMUSP00000133506
Gene: ENSMUSG00000022160

Domain	Start	End	E-Value	Type
low complexity region	53	67	N/A	INTRINSIC
low complexity region	82	93	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000174360

SMART Domains

Protein: ENSMUSP00000134578
Gene: ENSMUSG00000022160

Domain	Start	End	E-Value	Type
Pfam:MT-A70	1	34	4.3e-10	PFAM
Pfam:MT-A70	30	74	1.4e-15	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the 70 kDa subunit of MT-A which is part of N6-adenosine-methyltransferase. This enzyme is involved in the posttranscriptional methylation of internal adenosine residues in eukaryotic mRNAs, forming N6-methyladenosine. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality between E3.5 and E8.5 with a deficiency in adopting the epiblast egg cylinder. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	G	A	16: 4,682,227 (GRCm39)	G180E	probably damaging	Het
4933412E24Rik	A	G	15: 59,886,917 (GRCm39)	F508L	probably benign	Het
Acyp2	C	T	11: 30,456,354 (GRCm39)	E98K	possibly damaging	Het
Amz1	A	G	5: 140,733,976 (GRCm39)	Y184C	probably damaging	Het
Calm3	A	T	7: 16,651,619 (GRCm39)	D23E	possibly damaging	Het
Cep112	T	A	11: 108,409,570 (GRCm39)	N479K	probably damaging	Het
Cfap251	T	C	5: 123,436,695 (GRCm39)		probably null	Het
Csmd1	A	C	8: 16,011,486 (GRCm39)	N2522K	probably benign	Het
Dhx30	A	G	9: 109,930,042 (GRCm39)	L18P	probably damaging	Het
E2f2	A	T	4: 135,900,224 (GRCm39)	T45S	probably benign	Het
Grk3	T	C	5: 113,117,074 (GRCm39)	Y67C	probably damaging	Het
Htt	T	A	5: 35,042,851 (GRCm39)	C2290*	probably null	Het
Igsf10	T	C	3: 59,233,175 (GRCm39)	T1853A	probably damaging	Het
Kmt2d	G	A	15: 98,749,990 (GRCm39)		probably benign	Het
Mast2	A	G	4: 116,164,655 (GRCm39)	L1587P	probably damaging	Het
Mdn1	A	G	4: 32,720,897 (GRCm39)	N2337D	probably benign	Het
Mterf1b	A	G	5: 4,246,541 (GRCm39)	S61G	probably benign	Het
Mycbp2	T	C	14: 103,437,562 (GRCm39)	Y2100C	probably damaging	Het
Nt5m	T	A	11: 59,765,385 (GRCm39)	W138R	probably damaging	Het
Or5g29	A	G	2: 85,421,640 (GRCm39)	Y252C	probably damaging	Het
Prex1	A	G	2: 166,486,728 (GRCm39)	Y114H	probably benign	Het
Rasa2	A	T	9: 96,453,971 (GRCm39)	S322T	probably damaging	Het
Sis	A	T	3: 72,857,171 (GRCm39)	D373E	probably damaging	Het
Snx29	A	T	16: 11,328,876 (GRCm39)	M552L	possibly damaging	Het
Sptbn1	G	T	11: 30,050,520 (GRCm39)	F2356L	possibly damaging	Het
Tbc1d10c	G	T	19: 4,238,052 (GRCm39)	Q241K	probably benign	Het
Vmn1r222	A	G	13: 23,417,045 (GRCm39)	I56T	probably benign	Het
Vmn2r111	T	C	17: 22,767,238 (GRCm39)	Y753C	probably damaging	Het
Vmn2r37	A	G	7: 9,220,973 (GRCm39)	W297R	probably damaging	Het
Zbtb47	G	T	9: 121,596,729 (GRCm39)	R695L	probably damaging	Het
Zfp267	C	T	3: 36,219,969 (GRCm39)	T664I	possibly damaging	Het

Other mutations in Mettl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00401:Mettl3	APN	14	52,534,424 (GRCm39)	unclassified	probably benign
IGL00508:Mettl3	APN	14	52,532,436 (GRCm39)	unclassified	probably benign
R0417:Mettl3	UTSW	14	52,534,155 (GRCm39)	missense	probably damaging	1.00
R1533:Mettl3	UTSW	14	52,534,385 (GRCm39)	missense	probably benign	0.01
R2113:Mettl3	UTSW	14	52,532,441 (GRCm39)	makesense	probably null
R3785:Mettl3	UTSW	14	52,537,363 (GRCm39)	missense	probably benign	0.15
R3786:Mettl3	UTSW	14	52,537,363 (GRCm39)	missense	probably benign	0.15
R4651:Mettl3	UTSW	14	52,532,549 (GRCm39)	missense	probably damaging	1.00
R4652:Mettl3	UTSW	14	52,532,549 (GRCm39)	missense	probably damaging	1.00
R4938:Mettl3	UTSW	14	52,537,184 (GRCm39)	missense	probably damaging	1.00
R6046:Mettl3	UTSW	14	52,536,243 (GRCm39)	missense	possibly damaging	0.91
R6151:Mettl3	UTSW	14	52,532,477 (GRCm39)	missense	probably damaging	1.00
R6169:Mettl3	UTSW	14	52,536,214 (GRCm39)	missense	possibly damaging	0.88
R6225:Mettl3	UTSW	14	52,534,215 (GRCm39)	splice site	probably null
R6282:Mettl3	UTSW	14	52,535,428 (GRCm39)	missense	probably benign	0.01
R8038:Mettl3	UTSW	14	52,537,421 (GRCm39)	missense	possibly damaging	0.80
R8110:Mettl3	UTSW	14	52,537,709 (GRCm39)	missense	probably benign	0.02
R9332:Mettl3	UTSW	14	52,534,125 (GRCm39)	missense	probably damaging	1.00
R9757:Mettl3	UTSW	14	52,537,361 (GRCm39)	missense	probably benign	0.00
RF001:Mettl3	UTSW	14	52,537,756 (GRCm39)	missense	probably benign
X0025:Mettl3	UTSW	14	52,535,545 (GRCm39)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- CTAAGGAATGTGAGCGTGTTC -3'
(R):5'- TTCTCCAGAAATTTGCCGCC -3'

Sequencing Primer
(F):5'- GTGTTCGCGTGGTCCCTAC -3'
(R):5'- AAATTTGCCGCCCAGGAGTTG -3'

Posted On

2016-10-06