Mutagenetix > Incidental Mutations

Incidental Mutation 'R0190:Mettl18'

23152

Institutional Source

Beutler Lab

Gene Symbol

Mettl18

Ensembl Gene

ENSMUSG00000041396

Gene Name

methyltransferase like 18

Synonyms

MMRRC Submission

038451-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.163) question?

Stock #

R0190 (G1)

Quality Score

185

Status

Not validated

Chromosome

Chromosomal Location

163994889-163997243 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 163996422 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 104 (E104G)

Ref Sequence

ENSEMBL: ENSMUSP00000107116 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000045694
AA Change: E104G

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000048636
Gene: ENSMUSG00000041396
AA Change: E104G

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: E104G

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000107116
Gene: ENSMUSG00000041396
AA Change: E104G

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

Coding Region Coverage

1x: 98.8%
3x: 97.6%
10x: 91.6%
20x: 72.5%

Validation Efficiency

75% (45/60)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl1	T	C	8: 46,513,392		probably null	Het
Aff2	CA	CAAA	X: 69,849,105		probably null	Het
Ankrd34a	A	G	3: 96,597,789	D103G	probably damaging	Het
Atp1b2	T	C	11: 69,601,562	D224G	probably damaging	Het
Atxn10	A	G	15: 85,336,529	D22G	possibly damaging	Het
B230118H07Rik	G	A	2: 101,586,430	S58L	probably benign	Het
Btbd9	C	T	17: 30,274,942	D492N	possibly damaging	Het
Caskin1	C	T	17: 24,504,622	L795F	possibly damaging	Het
Cdk12	T	C	11: 98,241,831		probably null	Het
Crtc2	A	G	3: 90,259,409	H91R	probably damaging	Het
Dbt	A	G	3: 116,539,087		probably null	Het
Dda1	C	A	8: 71,472,233	Y41*	probably null	Het
Dnah2	T	A	11: 69,435,249	D3692V	probably damaging	Het
Dpep1	A	G	8: 123,200,708	T334A	probably benign	Het
Enthd1	C	T	15: 80,534,494		probably null	Het
Fpr-rs6	T	A	17: 20,182,479	I207F	probably benign	Het
Fsip2	T	A	2: 82,985,177	S3751R	possibly damaging	Het
Gigyf2	A	T	1: 87,428,688		probably benign	Het
Gtf3c4	C	A	2: 28,840,128	D34Y	probably benign	Het
Igfn1	A	T	1: 135,962,052	V2419E	probably damaging	Het
Kank1	A	T	19: 25,409,283	I79L	probably benign	Het
Kif21b	A	G	1: 136,171,219	H1415R	probably benign	Het
Mad2l1	T	C	6: 66,539,878	S185P	possibly damaging	Het
Mrgprb2	G	A	7: 48,552,777	H67Y	possibly damaging	Het
Mrgprd	G	A	7: 145,321,702	M103I	probably benign	Het
Nanos3	C	T	8: 84,176,134	R133Q	probably damaging	Het
Npc1	G	A	18: 12,191,830	T1202I	probably damaging	Het
Nucks1	A	G	1: 131,924,591	D60G	probably damaging	Het
Olfr1245	T	A	2: 89,574,958	Y256F	probably damaging	Het
Olfr275	G	C	4: 52,825,613	W72S	probably damaging	Het
Olfr978	A	G	9: 39,994,544	I245V	probably benign	Het
Paqr8	A	G	1: 20,935,047	T142A	probably benign	Het
Pdss1	T	C	2: 22,906,831	S119P	probably damaging	Het
Plcl2	A	G	17: 50,607,643	D560G	probably benign	Het
Ppm1b	T	A	17: 84,994,103	V137E	probably damaging	Het
Ppp1r16b	A	C	2: 158,696,063	K35Q	probably damaging	Het
Prkd2	A	T	7: 16,869,890	E832V	probably damaging	Het
Rab34	G	T	11: 78,191,406	K191N	possibly damaging	Het
Rad51ap2	A	C	12: 11,458,539	T821P	probably benign	Het
Rbm19	A	G	5: 120,144,046	T823A	probably benign	Het
Rpf2	T	G	10: 40,227,601	H106P	probably damaging	Het
Schip1	A	G	3: 68,625,844	M453V	probably benign	Het
Sema5a	T	A	15: 32,562,774	N310K	possibly damaging	Het
Sf3b1	T	C	1: 54,990,306	D1179G	probably damaging	Het
Skint2	A	T	4: 112,616,532	T4S	possibly damaging	Het
Slc22a5	A	T	11: 53,869,415	Y358*	probably null	Het
Slc34a1	T	C	13: 55,409,101	M251T	probably benign	Het
Slc44a5	A	G	3: 154,239,118	D124G	probably null	Het
Slc9b1	G	A	3: 135,357,673	E73K	unknown	Het
Ssbp2	T	C	13: 91,669,710	L156P	probably damaging	Het
Taar2	G	A	10: 23,941,495	R311H	probably benign	Het
Trim47	A	G	11: 116,106,227	V568A	probably damaging	Het
Ttn	A	T	2: 76,887,980		probably benign	Het
Ttpa	A	T	4: 20,021,260	I74F	probably damaging	Het
Vmn2r52	T	C	7: 10,171,388	I175V	probably benign	Het
Wrn	C	T	8: 33,240,983	C1350Y	probably benign	Het
Zfp11	C	T	5: 129,658,238	G53E	possibly damaging	Het
Zfp422	A	T	6: 116,626,611	D142E	probably damaging	Het
Zfp473	A	T	7: 44,733,188	C574S	probably damaging	Het
Zfp638	T	A	6: 83,928,964	M37K	probably damaging	Het
Zfp976	C	A	7: 42,642,524		probably benign	Het

Other mutations in Mettl18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00926:Mettl18	APN	1	163996226	missense	possibly damaging	0.83
IGL01989:Mettl18	APN	1	163996303	missense	probably benign	0.00
R0394:Mettl18	UTSW	1	163996341	missense	probably benign
R0562:Mettl18	UTSW	1	163996493	missense	probably benign	0.04
R2260:Mettl18	UTSW	1	163996825	missense	probably benign	0.28
R4293:Mettl18	UTSW	1	163996602	missense	probably damaging	1.00
R4626:Mettl18	UTSW	1	163996476	missense	probably damaging	1.00
R4749:Mettl18	UTSW	1	163996785	missense	probably benign	0.13
R5930:Mettl18	UTSW	1	163997177	missense	probably null	0.00
R5987:Mettl18	UTSW	1	163996775	missense	probably benign	0.04
R6503:Mettl18	UTSW	1	163997118	missense	possibly damaging	0.94
R6687:Mettl18	UTSW	1	163996800	missense	possibly damaging	0.73
R6730:Mettl18	UTSW	1	163997181	missense	probably damaging	1.00
R7457:Mettl18	UTSW	1	163996761	missense	probably damaging	1.00
R8343:Mettl18	UTSW	1	163996940	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGAAATGCTCCTCACTGGGAAATGC -3'
(R):5'- ACAGCCAAGGTCTAACACTTTCTGC -3'

Sequencing Primer
(F):5'- TCACTGGGAAATGCAGCTTC -3'
(R):5'- AGGTCAAAGGTGCATTCCC -3'

Posted On

2013-04-16