Mutagenetix > Incidental Mutation

Incidental Mutation 'R4293:Mettl18'

323148

Institutional Source

Beutler Lab

Gene Symbol

Mettl18

Ensembl Gene

ENSMUSG00000041396

Gene Name

methyltransferase like 18

Synonyms

2810422O20Rik

MMRRC Submission

041082-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.144) question?

Stock #

R4293 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

163822458-163824812 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 163824171 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 164 (D164G)

Ref Sequence

ENSEMBL: ENSMUSP00000107116 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045694] [ENSMUST00000045876] [ENSMUST00000097493] [ENSMUST00000111490] [ENSMUST00000160926]

AlphaFold

Q9CZ09

Predicted Effect

probably damaging
Transcript: ENSMUST00000045694
AA Change: D164G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000048636
Gene: ENSMUSG00000041396
AA Change: D164G

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_16	150	233	7.3e-7	PFAM
Pfam:PrmA	166	240	2.1e-7	PFAM
low complexity region	300	313	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000045876

SMART Domains

Protein: ENSMUSP00000043143
Gene: ENSMUSG00000041406

Domain	Start	End	E-Value	Type
low complexity region	10	23	N/A	INTRINSIC
Pfam:DUF4487	233	779	2.3e-209	PFAM
low complexity region	877	889	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000097493

SMART Domains

Protein: ENSMUSP00000095101
Gene: ENSMUSG00000041406

Domain	Start	End	E-Value	Type
low complexity region	10	23	N/A	INTRINSIC
Pfam:DUF4487	233	779	1.3e-186	PFAM
low complexity region	877	889	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000111490
AA Change: D164G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107116
Gene: ENSMUSG00000041396
AA Change: D164G

Domain	Start	End	E-Value	Type
Pfam:MTS	147	232	4.5e-6	PFAM
Pfam:Methyltransf_16	149	233	3.6e-7	PFAM
Pfam:PrmA	166	238	2.7e-7	PFAM
low complexity region	300	313	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160926

SMART Domains

Protein: ENSMUSP00000124826
Gene: ENSMUSG00000041406

Domain	Start	End	E-Value	Type
low complexity region	10	23	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162949

Meta Mutation Damage Score

0.7098

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.7%
20x: 96.2%

Validation Efficiency

98% (60/61)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn3	T	C	19: 4,915,468 (GRCm39)	E428G	probably benign	Het
Arfgef2	T	C	2: 166,732,211 (GRCm39)	I1600T	probably benign	Het
Arid3b	A	T	9: 57,697,713 (GRCm39)		probably benign	Het
Asgr2	C	A	11: 69,989,057 (GRCm39)	T167K	probably benign	Het
Atf6b	T	A	17: 34,871,648 (GRCm39)	M428K	probably benign	Het
Atpaf1	A	T	4: 115,645,556 (GRCm39)	M142L	probably benign	Het
Bivm	A	T	1: 44,177,793 (GRCm39)	R364S	probably damaging	Het
Bms1	T	C	6: 118,382,308 (GRCm39)		probably null	Het
Brwd1	G	A	16: 95,818,804 (GRCm39)	P1343S	probably damaging	Het
Cdca2	T	C	14: 67,952,299 (GRCm39)	D24G	probably benign	Het
Celsr2	T	C	3: 108,300,993 (GRCm39)	R2767G	probably benign	Het
Cip2a	T	A	16: 48,833,612 (GRCm39)	F571Y	probably benign	Het
Cyp2c55	A	T	19: 39,000,235 (GRCm39)	I145F	probably damaging	Het
Ddx18	T	C	1: 121,489,121 (GRCm39)	T309A	probably benign	Het
Dlg3	A	T	X: 99,840,288 (GRCm39)		probably benign	Het
Fbf1	A	G	11: 116,039,720 (GRCm39)	L713P	probably damaging	Het
Fhdc1	C	A	3: 84,352,133 (GRCm39)	V1031F	probably benign	Het
Fnbp1	A	G	2: 30,995,362 (GRCm39)	F24S	probably damaging	Het
Gm16686	A	T	4: 88,673,710 (GRCm39)		probably benign	Het
Gmps	A	G	3: 63,898,040 (GRCm39)	M275V	probably damaging	Het
Igdcc4	A	G	9: 65,031,892 (GRCm39)		probably null	Het
Kcnv1	G	A	15: 44,977,840 (GRCm39)	T66M	probably damaging	Het
Kif18a	T	C	2: 109,123,398 (GRCm39)	V224A	probably benign	Het
Lbr	C	T	1: 181,648,267 (GRCm39)	C398Y	probably damaging	Het
Lmf1	T	C	17: 25,873,455 (GRCm39)	L320P	probably damaging	Het
Mapkapk3	T	C	9: 107,136,131 (GRCm39)		probably benign	Het
Myo5a	A	T	9: 75,051,453 (GRCm39)	T349S	probably benign	Het
Or1ad6	T	C	11: 50,860,253 (GRCm39)	M136T	probably damaging	Het
Or8d2b	A	G	9: 38,788,609 (GRCm39)	I46V	probably damaging	Het
Pcdhb5	T	A	18: 37,455,734 (GRCm39)	S705T	possibly damaging	Het
Phf14	C	T	6: 11,987,096 (GRCm39)	P559S	probably damaging	Het
Pik3c3	G	A	18: 30,477,043 (GRCm39)	A855T	probably damaging	Het
Plpp4	A	G	7: 128,909,356 (GRCm39)	E22G	probably damaging	Het
Rev1	A	T	1: 38,147,500 (GRCm39)	D13E	possibly damaging	Het
Sec16a	A	G	2: 26,312,167 (GRCm39)	Y1998H	probably benign	Het
Slc4a5	C	T	6: 83,237,511 (GRCm39)	R165C	probably damaging	Het
Slfn10-ps	T	C	11: 82,926,260 (GRCm39)		noncoding transcript	Het
Slfn9	T	C	11: 82,873,334 (GRCm39)	N523S	probably benign	Het
Spata13	T	A	14: 60,947,004 (GRCm39)	M684K	probably damaging	Het
Srsf6	T	C	2: 162,776,636 (GRCm39)		probably benign	Het
Stk32c	T	C	7: 138,700,704 (GRCm39)		probably null	Het
Tenm3	T	C	8: 48,848,693 (GRCm39)	T49A	probably damaging	Het
Tep1	T	C	14: 51,084,318 (GRCm39)	I954V	probably benign	Het
Tmem237	A	G	1: 59,158,995 (GRCm39)		probably benign	Het
Vmn2r101	A	T	17: 19,832,303 (GRCm39)	R766S	probably damaging	Het
Vwce	A	G	19: 10,636,996 (GRCm39)	T693A	probably benign	Het
Xpr1	A	G	1: 155,188,542 (GRCm39)	F366S	possibly damaging	Het
Zfp317	A	G	9: 19,557,990 (GRCm39)		probably null	Het

Other mutations in Mettl18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00926:Mettl18	APN	1	163,823,795 (GRCm39)	missense	possibly damaging	0.83
IGL01989:Mettl18	APN	1	163,823,872 (GRCm39)	missense	probably benign	0.00
R0190:Mettl18	UTSW	1	163,823,991 (GRCm39)	missense	probably damaging	0.98
R0394:Mettl18	UTSW	1	163,823,910 (GRCm39)	missense	probably benign
R0562:Mettl18	UTSW	1	163,824,062 (GRCm39)	missense	probably benign	0.04
R2260:Mettl18	UTSW	1	163,824,394 (GRCm39)	missense	probably benign	0.28
R4626:Mettl18	UTSW	1	163,824,045 (GRCm39)	missense	probably damaging	1.00
R4749:Mettl18	UTSW	1	163,824,354 (GRCm39)	missense	probably benign	0.13
R5930:Mettl18	UTSW	1	163,824,746 (GRCm39)	missense	probably null	0.00
R5987:Mettl18	UTSW	1	163,824,344 (GRCm39)	missense	probably benign	0.04
R6503:Mettl18	UTSW	1	163,824,687 (GRCm39)	missense	possibly damaging	0.94
R6687:Mettl18	UTSW	1	163,824,369 (GRCm39)	missense	possibly damaging	0.73
R6730:Mettl18	UTSW	1	163,824,750 (GRCm39)	missense	probably damaging	1.00
R7457:Mettl18	UTSW	1	163,824,330 (GRCm39)	missense	probably damaging	1.00
R8343:Mettl18	UTSW	1	163,824,509 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGATGCCTAAAGATGTGAATCACG -3'
(R):5'- GCTGTCATCTTGCAAAGGGAC -3'

Sequencing Primer
(F):5'- GTGAATCACGTCTTAGAAAATACGG -3'
(R):5'- GCTGTCATCTTGCAAAGGGACATTAG -3'

Posted On

2015-06-20