Mutagenetix > Incidental Mutation

Incidental Mutation 'R7498:Mettl8'

581185

Institutional Source

Beutler Lab

Gene Symbol

Mettl8

Ensembl Gene

ENSMUSG00000041975

Gene Name

methyltransferase 8, methylcytidine

Synonyms

TIP

MMRRC Submission

045571-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.880) question?

Stock #

R7498 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70794905-70885927 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 70795969 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 306 (V306G)

Ref Sequence

ENSEMBL: ENSMUSP00000097615 (fasta)

Gene Model

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

AlphaFold

A2AUU0

Predicted Effect

probably damaging
Transcript: ENSMUST00000100037
AA Change: V306G

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000097615
Gene: ENSMUSG00000041975
AA Change: V306G

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

possibly damaging
Transcript: ENSMUST00000112186
AA Change: V353G

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000107804
Gene: ENSMUSG00000041975
AA Change: V353G

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

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

Meta Mutation Damage Score

0.4807

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

99% (75/76)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	G	A	2: 68,498,012 (GRCm39)	E148K	unknown	Het
Adgrl2	T	A	3: 148,564,852 (GRCm39)	K243*	probably null	Het
Adgrv1	A	T	13: 81,588,344 (GRCm39)	V4414E	possibly damaging	Het
Ahnak	A	T	19: 8,989,383 (GRCm39)	I3556F	probably benign	Het
Akap6	C	T	12: 53,189,488 (GRCm39)	R2301*	probably null	Het
Alg6	A	G	4: 99,636,933 (GRCm39)	T305A	probably damaging	Het
Alpk1	C	T	3: 127,473,427 (GRCm39)	A859T	probably benign	Het
Apba3	T	A	10: 81,104,735 (GRCm39)	F3I	possibly damaging	Het
Birc6	A	G	17: 74,967,465 (GRCm39)	E4151G	probably damaging	Het
Bmp2k	T	A	5: 97,235,978 (GRCm39)	F1134I	probably benign	Het
C6	A	T	15: 4,792,846 (GRCm39)	H317L	probably damaging	Het
Catsperg2	G	A	7: 29,416,527 (GRCm39)	S295L	possibly damaging	Het
Ccdc142	G	T	6: 83,080,212 (GRCm39)	R385L	possibly damaging	Het
Ciz1	A	T	2: 32,261,761 (GRCm39)	M482L	probably benign	Het
Crisp3	A	G	17: 40,536,693 (GRCm39)		probably null	Het
Dcaf15	G	A	8: 84,828,392 (GRCm39)	P233S	probably damaging	Het
Def8	A	G	8: 124,174,583 (GRCm39)	N16S	probably damaging	Het
Dnah7b	T	G	1: 46,364,925 (GRCm39)	S3569A	probably damaging	Het
Dok6	C	T	18: 89,787,443 (GRCm39)		probably benign	Het
Dop1a	A	T	9: 86,376,464 (GRCm39)	T233S	possibly damaging	Het
Ep300	T	A	15: 81,524,044 (GRCm39)	V1325D	unknown	Het
Fancm	T	A	12: 65,146,165 (GRCm39)	H629Q	probably benign	Het
Fbxo10	T	C	4: 45,062,194 (GRCm39)	S111G	probably benign	Het
Fbxo21	T	C	5: 118,140,239 (GRCm39)		probably null	Het
Fdx1	A	C	9: 51,859,898 (GRCm39)	L144R	probably damaging	Het
Fgfr3	GGACCTCTCCGTG	GG	5: 33,892,766 (GRCm39)		probably null	Het
Flot2	G	A	11: 77,944,188 (GRCm39)		probably null	Het
Fndc10	C	T	4: 155,779,195 (GRCm39)	R80C	probably damaging	Het
Fut8	A	T	12: 77,459,708 (GRCm39)	T274S	probably benign	Het
Gli2	T	C	1: 118,763,565 (GRCm39)	M1529V	possibly damaging	Het
Gm7361	C	A	5: 26,466,188 (GRCm39)	H183Q	probably benign	Het
Hdlbp	T	A	1: 93,341,337 (GRCm39)	H1007L	probably benign	Het
Hmcn2	A	C	2: 31,273,487 (GRCm39)		probably null	Het
Inhbb	C	T	1: 119,345,608 (GRCm39)	R227H	probably damaging	Het
Kifc1	A	G	17: 34,102,846 (GRCm39)	F256L	probably benign	Het
Lman2	A	T	13: 55,494,790 (GRCm39)	F326Y	probably damaging	Het
Mcmdc2	T	C	1: 9,989,302 (GRCm39)	V242A	probably benign	Het
Mog	A	T	17: 37,322,984 (GRCm39)		probably null	Het
Morc2b	G	A	17: 33,356,833 (GRCm39)	A313V	possibly damaging	Het
Myh3	A	G	11: 66,987,874 (GRCm39)	N1449S	possibly damaging	Het
Myh8	C	A	11: 67,174,263 (GRCm39)	T200K	possibly damaging	Het
Myo16	T	A	8: 10,450,589 (GRCm39)	H530Q	unknown	Het
Neb	C	T	2: 52,148,188 (GRCm39)	R2686H	probably damaging	Het
Nudt2	T	C	4: 41,480,539 (GRCm39)	F141L	possibly damaging	Het
Obscn	G	A	11: 58,973,539 (GRCm39)	H1931Y	probably damaging	Het
Odad3	A	G	9: 21,913,553 (GRCm39)	I73T	probably damaging	Het
Or10al5	A	G	17: 38,063,242 (GRCm39)	T166A	probably damaging	Het
Or2d4	A	T	7: 106,543,575 (GRCm39)	V211D	possibly damaging	Het
Or5p80	T	A	7: 108,229,623 (GRCm39)	C141*	probably null	Het
Plcb1	T	A	2: 135,104,153 (GRCm39)	L274*	probably null	Het
Plcb1	G	T	2: 135,104,154 (GRCm39)	L274F	probably damaging	Het
Potefam3d	A	C	8: 69,972,475 (GRCm39)	Y91*	probably null	Het
Prc1	C	T	7: 79,962,898 (GRCm39)	T564M	possibly damaging	Het
Psd4	G	A	2: 24,296,996 (GRCm39)	R923Q	probably damaging	Het
Ptprj	G	A	2: 90,266,909 (GRCm39)	Q1300*	probably null	Het
Rapgef6	G	T	11: 54,510,830 (GRCm39)	R249L	probably damaging	Het
Slain1	G	A	14: 103,893,429 (GRCm39)		probably null	Het
Slfn9	A	T	11: 82,873,013 (GRCm39)	I630N	probably damaging	Het
Smg6	G	A	11: 74,819,932 (GRCm39)	A68T	probably benign	Het
Spata31h1	T	A	10: 82,127,113 (GRCm39)	T1966S	probably benign	Het
Spef2	T	A	15: 9,727,625 (GRCm39)	M153L	probably benign	Het
St8sia4	T	A	1: 95,519,418 (GRCm39)	M357L	probably benign	Het
Tal1	A	T	4: 114,925,879 (GRCm39)	H316L	possibly damaging	Het
Tenm4	A	G	7: 96,497,224 (GRCm39)	E1207G	probably damaging	Het
Tmem64	C	A	4: 15,266,176 (GRCm39)	H75Q	probably benign	Het
Tor4a	A	G	2: 25,085,804 (GRCm39)	V33A	probably benign	Het
Traj52	C	T	14: 54,402,818 (GRCm39)	T15I		Het
Trim50	G	A	5: 135,392,768 (GRCm39)	V228M	probably benign	Het
Trpm1	A	T	7: 63,858,657 (GRCm39)	I360F	possibly damaging	Het
Trpm6	A	T	19: 18,853,484 (GRCm39)	R1835W	probably damaging	Het
Ubn1	T	C	16: 4,894,969 (GRCm39)	S672P	probably damaging	Het
Ugt2a2	C	T	5: 87,622,500 (GRCm39)	C156Y	probably damaging	Het
Wnk1	T	C	6: 119,904,157 (GRCm39)	S2223G	unknown	Het
Wnt7b	G	T	15: 85,427,880 (GRCm39)	A194E	probably damaging	Het
Zmpste24	A	G	4: 120,940,028 (GRCm39)	V206A	probably benign	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
R5629:Mettl8	UTSW	2	70,795,913 (GRCm39)	missense	probably benign
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
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'- TGAACAGTATCAGGCCCTGG -3'
(R):5'- TATGTGGGAATGAAGAGGCCCC -3'

Sequencing Primer
(F):5'- AGTATCAGGCCCTGGGTTCATAC -3'
(R):5'- CCCCACCTGGTGTTGTG -3'

Posted On

2019-10-17