Mutagenetix > Incidental Mutation

Incidental Mutation 'R5629:Mettl8'

441960

Institutional Source

Beutler Lab

Gene Symbol

Mettl8

Ensembl Gene

ENSMUSG00000041975

Gene Name

methyltransferase 8, methylcytidine

Synonyms

TIP

MMRRC Submission

043280-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.880) question?

Stock #

R5629 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

70794905-70885927 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70795913 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 372 (I372V)

Ref Sequence

ENSEMBL: ENSMUSP00000107804 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100037] [ENSMUST00000112179] [ENSMUST00000112186] [ENSMUST00000121586] [ENSMUST00000148876] [ENSMUST00000149181]

AlphaFold

A2AUU0

Predicted Effect

probably benign
Transcript: ENSMUST00000100037
AA Change: I325V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000097615
Gene: ENSMUSG00000041975
AA Change: I325V

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_23	115	304	1.4e-14	PFAM
Pfam:Ubie_methyltran	126	265	1.4e-7	PFAM
Pfam:Methyltransf_31	137	304	5.6e-10	PFAM
Pfam:Methyltransf_26	140	251	4.2e-8	PFAM
Pfam:Methyltransf_25	143	246	5.3e-13	PFAM
Pfam:Methyltransf_12	144	248	1e-12	PFAM
Pfam:Methyltransf_11	144	250	7.4e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000112179

SMART Domains

Protein: ENSMUSP00000107800
Gene: ENSMUSG00000041975

Domain	Start	End	E-Value	Type
low complexity region	190	206	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112186
AA Change: I372V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000107804
Gene: ENSMUSG00000041975
AA Change: I372V

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_23	158	349	5.1e-15	PFAM
Pfam:Ubie_methyltran	173	312	8.7e-8	PFAM
Pfam:Methyltransf_31	184	348	3.7e-9	PFAM
Pfam:Methyltransf_25	190	293	3.9e-13	PFAM
Pfam:Methyltransf_12	191	295	7e-13	PFAM
Pfam:Methyltransf_11	191	297	6.2e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000121586

SMART Domains

Protein: ENSMUSP00000113642
Gene: ENSMUSG00000041975

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_25	190	279	1.4e-6	PFAM
Pfam:Methyltransf_11	191	280	5.6e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124781

Predicted Effect

probably benign
Transcript: ENSMUST00000140293

SMART Domains

Protein: ENSMUSP00000118026
Gene: ENSMUSG00000041975

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_11	2	66	2.2e-8	PFAM
Pfam:Methyltransf_23	3	109	6.3e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000148876

SMART Domains

Protein: ENSMUSP00000115855
Gene: ENSMUSG00000041975

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_25	190	281	1.9e-8	PFAM
Pfam:Methyltransf_11	191	280	2.8e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000149181

SMART Domains

Protein: ENSMUSP00000119863
Gene: ENSMUSG00000041975

Domain	Start	End	E-Value	Type
SCOP:d1af7_2	107	137	7e-3	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.2%
20x: 95.1%

Validation Efficiency

MGI Phenotype

FUNCTION: This locus encodes a member of the methyltransferase family, and is involved in chromatin remodeling. Transcripts from this locus can be induced or inhibited by cell stretch and affect cell differentiation in the myogenic or adipogenic pathways. Multiple transcript variants encoding different isoforms have been found for this gene. Additional splice variants have been described in the literature but they meet nonsense-mediated decay (NMD) criteria and are likely to be degraded as soon as they are transcribed. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced 3-methylcytidine (m3C) methyltransferases modification of mRNA. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim2	G	A	5: 36,014,507 (GRCm39)	D189N	probably benign	Het
Adamts9	A	T	6: 92,775,114 (GRCm39)	V1052D	probably damaging	Het
Apob	T	C	12: 8,057,847 (GRCm39)	Y2077H	probably damaging	Het
Apol7e	A	T	15: 77,602,276 (GRCm39)	K291N	probably benign	Het
Arsk	A	T	13: 76,242,027 (GRCm39)	I82N	probably damaging	Het
Art1	A	G	7: 101,756,286 (GRCm39)	Q159R	probably benign	Het
Atp2a2	A	G	5: 122,598,159 (GRCm39)	V733A	probably damaging	Het
Btn2a2	A	T	13: 23,666,130 (GRCm39)		probably null	Het
Catsper1	C	T	19: 5,386,165 (GRCm39)	P133S	probably benign	Het
Celsr3	A	G	9: 108,726,266 (GRCm39)	D3165G	probably benign	Het
Cldn19	T	A	4: 119,114,116 (GRCm39)	V86E	probably damaging	Het
Ctnna1	T	A	18: 35,382,802 (GRCm39)	D649E	probably benign	Het
Cttnbp2	A	G	6: 18,405,217 (GRCm39)	I1094T	probably damaging	Het
Ddx24	T	C	12: 103,391,806 (GRCm39)		probably benign	Het
Ern2	T	A	7: 121,769,389 (GRCm39)	H879L	probably damaging	Het
Etv4	T	A	11: 101,662,751 (GRCm39)	H277L	probably damaging	Het
Faap100	G	T	11: 120,267,837 (GRCm39)	A312D	probably damaging	Het
Glipr1l1	G	A	10: 111,914,308 (GRCm39)	C223Y	possibly damaging	Het
Gna14	T	C	19: 16,414,097 (GRCm39)	S14P	possibly damaging	Het
Hapln1	A	G	13: 89,749,634 (GRCm39)	T60A	probably damaging	Het
Hars2	T	A	18: 36,921,719 (GRCm39)	Y273*	probably null	Het
Ighv5-6	A	T	12: 113,589,242 (GRCm39)	Y79*	probably null	Het
Iqgap2	T	A	13: 95,768,682 (GRCm39)	N1406I	probably damaging	Het
Kalrn	T	C	16: 33,860,304 (GRCm39)	T215A	possibly damaging	Het
Krtap13-1	T	A	16: 88,526,047 (GRCm39)	S90R	probably benign	Het
Mfn1	A	T	3: 32,615,659 (GRCm39)	T341S	possibly damaging	Het
Mocos	T	A	18: 24,797,142 (GRCm39)		probably null	Het
Muc5b	T	C	7: 141,415,036 (GRCm39)	S2661P	possibly damaging	Het
Myo15a	C	T	11: 60,370,578 (GRCm39)	P1113S	probably benign	Het
Myo5a	A	T	9: 75,111,127 (GRCm39)	I1540F	possibly damaging	Het
Myoc	T	C	1: 162,476,156 (GRCm39)	Y287H	probably damaging	Het
Napepld	A	G	5: 21,880,901 (GRCm39)	F165L	probably benign	Het
Ndufb10	T	C	17: 24,941,656 (GRCm39)	E102G	probably damaging	Het
Nrros	T	A	16: 31,963,223 (GRCm39)	I265F	probably damaging	Het
Nrxn1	A	T	17: 90,897,460 (GRCm39)	F891I	possibly damaging	Het
Nsfl1c	T	C	2: 151,346,085 (GRCm39)	Y169H	probably damaging	Het
Oas2	G	A	5: 120,876,516 (GRCm39)	Q476*	probably null	Het
Or51f5	A	T	7: 102,423,847 (GRCm39)	I39F	possibly damaging	Het
Pcnx2	C	A	8: 126,624,780 (GRCm39)	W14L	probably damaging	Het
Pip4p1	T	C	14: 51,165,373 (GRCm39)	H278R	probably benign	Het
Piwil2	C	T	14: 70,660,416 (GRCm39)	V70M	probably damaging	Het
Prss23	A	C	7: 89,159,400 (GRCm39)	V223G	probably damaging	Het
Rarres2	A	T	6: 48,547,194 (GRCm39)	L122Q	probably benign	Het
Robo1	T	C	16: 72,780,598 (GRCm39)	V776A	probably benign	Het
Robo3	G	A	9: 37,330,507 (GRCm39)	Q1008*	probably null	Het
Robo4	G	A	9: 37,319,658 (GRCm39)	C636Y	probably damaging	Het
Sacm1l	A	G	9: 123,395,464 (GRCm39)	M196V	probably benign	Het
Septin7	T	A	9: 25,199,589 (GRCm39)	Y163N	probably damaging	Het
Skint6	G	A	4: 112,870,176 (GRCm39)	T594I	possibly damaging	Het
Slc23a1	T	C	18: 35,759,545 (GRCm39)	H13R	probably benign	Het
Slc25a39	A	C	11: 102,295,719 (GRCm39)	Y109*	probably null	Het
Slc8a3	G	A	12: 81,246,405 (GRCm39)	R883C	probably damaging	Het
Spag17	A	T	3: 99,987,435 (GRCm39)	Y1575F	probably benign	Het
Spdye4c	T	A	2: 128,438,705 (GRCm39)	I321N	probably damaging	Het
Stk32b	G	A	5: 37,614,576 (GRCm39)	P311S	probably damaging	Het
Svs3a	T	A	2: 164,132,040 (GRCm39)	S203T	probably benign	Het
Taf3	A	T	2: 9,922,989 (GRCm39)	I45N	probably damaging	Het
Taf7	T	C	18: 37,776,555 (GRCm39)	N4S	probably benign	Het
Tial1	T	A	7: 128,046,421 (GRCm39)	D87V	probably damaging	Het
Tmem120a	T	A	5: 135,770,904 (GRCm39)	E78V	probably benign	Het
Tmem19	A	G	10: 115,183,165 (GRCm39)	F137L	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trim30d	T	C	7: 104,137,136 (GRCm39)	K23E	possibly damaging	Het
Ubxn7	C	A	16: 32,151,117 (GRCm39)	H4Q	unknown	Het
Usp40	C	T	1: 87,908,731 (GRCm39)	R590H	probably benign	Het
Vmn1r90	A	G	7: 14,296,011 (GRCm39)	M22T	possibly damaging	Het
Vmn2r1	G	A	3: 64,012,538 (GRCm39)	V800M	possibly damaging	Het
Vps11	A	T	9: 44,267,673 (GRCm39)	I313N	probably damaging	Het
Zhx1	A	G	15: 57,918,207 (GRCm39)	V13A	probably damaging	Het
Zic4	G	A	9: 91,260,805 (GRCm39)	R20H	probably benign	Het
Zp3r	C	T	1: 130,510,616 (GRCm39)	V369M	probably damaging	Het

Other mutations in Mettl8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00795:Mettl8	APN	2	70,812,434 (GRCm39)	missense	probably damaging	1.00
IGL01370:Mettl8	APN	2	70,812,383 (GRCm39)	missense	probably damaging	1.00
R1709:Mettl8	UTSW	2	70,812,495 (GRCm39)	missense	probably benign	0.02
R1944:Mettl8	UTSW	2	70,803,623 (GRCm39)	missense	probably damaging	1.00
R5107:Mettl8	UTSW	2	70,795,901 (GRCm39)	missense	probably damaging	1.00
R5278:Mettl8	UTSW	2	70,803,641 (GRCm39)	missense	probably damaging	1.00
R5864:Mettl8	UTSW	2	70,812,357 (GRCm39)	missense	probably benign	0.10
R6272:Mettl8	UTSW	2	70,806,419 (GRCm39)	splice site	probably null
R6402:Mettl8	UTSW	2	70,796,805 (GRCm39)	nonsense	probably null
R6535:Mettl8	UTSW	2	70,803,733 (GRCm39)	missense	possibly damaging	0.73
R7181:Mettl8	UTSW	2	70,803,706 (GRCm39)	missense	possibly damaging	0.79
R7288:Mettl8	UTSW	2	70,812,382 (GRCm39)	missense	probably benign	0.01
R7409:Mettl8	UTSW	2	70,803,687 (GRCm39)	missense	probably damaging	1.00
R7498:Mettl8	UTSW	2	70,795,969 (GRCm39)	missense	probably damaging	0.98
R7639:Mettl8	UTSW	2	70,812,526 (GRCm39)	missense	probably benign
R7789:Mettl8	UTSW	2	70,796,806 (GRCm39)	missense	probably damaging	1.00
R7795:Mettl8	UTSW	2	70,812,243 (GRCm39)	missense	probably benign
R8934:Mettl8	UTSW	2	70,882,062 (GRCm39)	unclassified	probably benign
R9600:Mettl8	UTSW	2	70,812,383 (GRCm39)	missense	possibly damaging	0.46
X0062:Mettl8	UTSW	2	70,812,318 (GRCm39)	missense	probably benign	0.33
Z1177:Mettl8	UTSW	2	70,803,682 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTAAAATGTCCTGAGAGCACTG -3'
(R):5'- AGCAGTCCTCCATGGTGTTC -3'

Sequencing Primer
(F):5'- ATGTCCTGAGAGCACTGACAGC -3'
(R):5'- GGTGTTCCATTGGGTCTCACC -3'

Posted On

2016-11-08