Mutagenetix > Incidental Mutations

Incidental Mutation 'R6282:Mettl3'

508017

Institutional Source

Beutler Lab

Gene Symbol

Mettl3

Ensembl Gene

ENSMUSG00000022160

Gene Name

methyltransferase like 3

Synonyms

M6A, 2310024F18Rik, Spo8

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6282 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

52294841-52305128 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 52297971 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 287 (D287E)

Ref Sequence

ENSEMBL: ENSMUSP00000134732 (fasta)

Gene Model

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

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: D338E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000022767
Gene: ENSMUSG00000022160
AA Change: D338E

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 benign
Transcript: ENSMUST00000147768

SMART Domains

Protein: ENSMUSP00000134577
Gene: ENSMUSG00000022160

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

noncoding transcript
Transcript: ENSMUST00000156611

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

noncoding transcript
Transcript: ENSMUST00000173546

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: ENSMUST00000174351
AA Change: D287E

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000134732
Gene: ENSMUSG00000022160
AA Change: D287E

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

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

Predicted Effect

probably benign
Transcript: ENSMUST00000174853

SMART Domains

Protein: ENSMUSP00000133864
Gene: ENSMUSG00000022160

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.3%

Validation Efficiency

98% (45/46)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001O22Rik	A	T	2: 30,800,769	L185Q	possibly damaging	Het
Abca6	A	T	11: 110,208,824	C966S	probably damaging	Het
Atp13a4	A	T	16: 29,434,004	I708N	probably benign	Het
Axin1	C	G	17: 26,143,037	D118E	probably damaging	Het
Bace2	A	T	16: 97,415,097	I297F	probably damaging	Het
C87499	T	C	4: 88,630,054	E38G	probably damaging	Het
Ccdc30	T	A	4: 119,324,017	D649V	probably damaging	Het
Cd180	G	A	13: 102,693,757	A20T	possibly damaging	Het
Cdk18	T	C	1: 132,120,020	D112G	probably damaging	Het
Cuedc1	A	G	11: 88,183,402	N254S	probably damaging	Het
Dnah7a	T	C	1: 53,503,601	H2470R	probably damaging	Het
Drap1	G	A	19: 5,424,436		probably null	Het
Fam196b	A	G	11: 34,402,819	D287G	possibly damaging	Het
Fbxo5	T	A	10: 5,801,216	K257M	probably damaging	Het
Gm11595	G	A	11: 99,772,555	R100C	unknown	Het
Gm12790	A	G	4: 101,967,516	V185A	possibly damaging	Het
Gm7361	A	G	5: 26,260,413	N136S	probably benign	Het
Il10ra	C	A	9: 45,260,405	C255F	probably damaging	Het
Itgam	A	T	7: 128,084,942	T340S	probably benign	Het
Ktn1	A	T	14: 47,663,971	N62I	probably damaging	Het
Ldb2	A	G	5: 44,532,665	L204P	probably damaging	Het
Map2k4	T	C	11: 65,707,016	T90A	possibly damaging	Het
Mier2	A	G	10: 79,544,742	F278S	probably damaging	Het
Mis18bp1	A	G	12: 65,149,163	M609T	probably benign	Het
Myo1d	A	T	11: 80,557,512	V929D	probably damaging	Het
Naprt	A	T	15: 75,891,979	M364K	probably benign	Het
Nod2	T	A	8: 88,670,460	C833S	probably benign	Het
Nrip3	C	T	7: 109,763,479		probably null	Het
Ntsr2	A	G	12: 16,658,425	Y320C	probably damaging	Het
Olfr1178	C	A	2: 88,391,533	C95*	probably null	Het
Olfr555	G	A	7: 102,659,647	M275I	probably benign	Het
Olfr761	G	A	17: 37,952,424	S200F	possibly damaging	Het
Osbpl3	A	T	6: 50,348,083		probably null	Het
Pcdhb3	C	T	18: 37,301,646	R222C	probably damaging	Het
Pik3cd	G	T	4: 149,659,743	R184S	probably benign	Het
Rad50	A	T	11: 53,669,770		probably null	Het
Rad51ap2	A	T	12: 11,457,559	H494L	probably benign	Het
Rbm25	T	C	12: 83,676,089	M762T	probably damaging	Het
Sars	G	T	3: 108,428,274	S338*	probably null	Het
Usp35	T	C	7: 97,325,948	E6G	probably damaging	Het
Vash2	T	C	1: 190,960,225	Y251C	probably benign	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het
Wdr20	T	A	12: 110,797,009		probably benign	Het
Wfdc1	G	A	8: 119,679,407	C87Y	probably damaging	Het
Zfp985	T	A	4: 147,583,348	H224Q	probably benign	Het

Other mutations in Mettl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00401:Mettl3	APN	14	52296967	unclassified	probably benign
IGL00508:Mettl3	APN	14	52294979	unclassified	probably benign
R0417:Mettl3	UTSW	14	52296698	missense	probably damaging	1.00
R1533:Mettl3	UTSW	14	52296928	missense	probably benign	0.01
R2113:Mettl3	UTSW	14	52294984	makesense	probably null
R3785:Mettl3	UTSW	14	52299906	missense	probably benign	0.15
R3786:Mettl3	UTSW	14	52299906	missense	probably benign	0.15
R4651:Mettl3	UTSW	14	52295092	missense	probably damaging	1.00
R4652:Mettl3	UTSW	14	52295092	missense	probably damaging	1.00
R4938:Mettl3	UTSW	14	52299727	missense	probably damaging	1.00
R5462:Mettl3	UTSW	14	52299879	missense	probably damaging	0.96
R6046:Mettl3	UTSW	14	52298786	missense	possibly damaging	0.91
R6151:Mettl3	UTSW	14	52295020	missense	probably damaging	1.00
R6169:Mettl3	UTSW	14	52298757	missense	possibly damaging	0.88
R6225:Mettl3	UTSW	14	52296758	unclassified	probably null
R8038:Mettl3	UTSW	14	52299964	missense	not run
RF001:Mettl3	UTSW	14	52300299	missense	probably benign
X0025:Mettl3	UTSW	14	52298088	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- TGCTCCCATCAGTAAGCCAG -3'
(R):5'- TCAAGTCTTTAGTCAGGAGAACG -3'

Sequencing Primer
(F):5'- TCCCATCAGTAAGCCAGATTGC -3'
(R):5'- CGAAAGTCCTTTAGTTTAACAATGC -3'

Posted On

2018-03-15