Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4402001:Mettl9'

555523

Institutional Source

Beutler Lab

Gene Symbol

Mettl9

Ensembl Gene

ENSMUSG00000030876

Gene Name

methyltransferase like 9

Synonyms

0610012D09Rik, Drev

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.124) question?

Stock #

PIT4402001 (G1)

Quality Score

103.008

Status

Not validated

Chromosome

Chromosomal Location

120633668-120677552 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 120656440 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 190 (V190E)

Ref Sequence

ENSEMBL: ENSMUSP00000033163 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033163] [ENSMUST00000207351]

AlphaFold

Q9EPL4

Predicted Effect

probably damaging
Transcript: ENSMUST00000033163
AA Change: V190E

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000033163
Gene: ENSMUSG00000030876
AA Change: V190E

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	39	50	N/A	INTRINSIC
Pfam:DREV	56	317	1.4e-142	PFAM
Pfam:Methyltransf_23	123	289	2.7e-12	PFAM
Pfam:Methyltransf_12	150	236	9.1e-10	PFAM
Pfam:Methyltransf_11	150	238	9.4e-8	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000207351
AA Change: V79E

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

Coding Region Coverage

1x: 92.8%
3x: 90.3%
10x: 83.2%
20x: 68.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700129C05Rik	T	G	14: 59,380,084 (GRCm39)	L71F	probably damaging	Het
Adamts9	C	T	6: 92,849,328 (GRCm39)	V1044I	probably benign	Het
Alcam	T	C	16: 52,115,497 (GRCm39)	Y207C	probably damaging	Het
Aldh4a1	C	A	4: 139,369,502 (GRCm39)	S351*	probably null	Het
Aoah	C	A	13: 20,978,680 (GRCm39)	S39R	probably benign	Het
Arcn1	A	T	9: 44,656,899 (GRCm39)	V421E	possibly damaging	Het
Ccdc18	A	G	5: 108,306,485 (GRCm39)	E300G	possibly damaging	Het
Cdk2ap2	C	A	19: 4,148,557 (GRCm39)	R126S	probably damaging	Het
Dcun1d4	A	G	5: 73,668,276 (GRCm39)	I39V	probably benign	Het
Fam53b	A	T	7: 132,361,746 (GRCm39)	I94N	probably damaging	Het
Fam83g	A	G	11: 61,594,422 (GRCm39)	H652R	probably damaging	Het
Fanca	A	T	8: 124,039,803 (GRCm39)	M157K	possibly damaging	Het
Flt1	A	T	5: 147,615,049 (GRCm39)	I299N	probably damaging	Het
Gm10800	CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA	CAAGAAAACTGAAAATCA	2: 98,497,361 (GRCm39)		probably null	Het
Gns	A	G	10: 121,212,611 (GRCm39)	Y191C	probably damaging	Het
Grin2a	T	C	16: 9,462,063 (GRCm39)	T690A	possibly damaging	Het
Gsk3b	C	T	16: 37,909,763 (GRCm39)		probably benign	Het
Igsf10	A	G	3: 59,233,000 (GRCm39)	V1911A	probably benign	Het
Igsf3	A	G	3: 101,334,393 (GRCm39)	K157E	probably benign	Het
Inpp5a	T	C	7: 139,091,369 (GRCm39)	Y118H	probably benign	Het
Kmt2a	A	G	9: 44,752,359 (GRCm39)	V1413A	unknown	Het
Mrps9	T	C	1: 42,935,258 (GRCm39)	L188P	probably benign	Het
Myo9a	A	T	9: 59,777,719 (GRCm39)	R1158S	possibly damaging	Het
Nacad	T	G	11: 6,548,621 (GRCm39)	Q1371P	probably benign	Het
Ncoa1	T	C	12: 4,344,987 (GRCm39)	M787V	probably benign	Het
Noxred1	A	T	12: 87,273,855 (GRCm39)	I62K	probably benign	Het
Or1j4	A	T	2: 36,740,316 (GRCm39)	H86L	probably benign	Het
Or2d3b	T	A	7: 106,514,294 (GRCm39)	D296E	possibly damaging	Het
Or2y17	A	G	11: 49,232,226 (GRCm39)	Y289C	probably damaging	Het
Or52d1	A	G	7: 103,755,657 (GRCm39)	Y57C	probably damaging	Het
Otud6b	A	G	4: 14,818,185 (GRCm39)	Y239H	probably damaging	Het
Pank1	A	G	19: 34,818,366 (GRCm39)	Y233H	probably damaging	Het
Pccb	G	T	9: 100,877,645 (GRCm39)	D286E	probably benign	Het
Plek	A	C	11: 16,940,121 (GRCm39)	L196R	probably benign	Het
Pou6f2	T	C	13: 18,299,931 (GRCm39)	H576R		Het
Rbm47	T	A	5: 66,184,354 (GRCm39)	Y83F	probably damaging	Het
Rbm6	A	T	9: 107,665,049 (GRCm39)	Y787N	probably damaging	Het
Slc8a2	C	A	7: 15,868,419 (GRCm39)	A217E	probably damaging	Het
Suox	G	A	10: 128,507,164 (GRCm39)	A288V	probably damaging	Het
Tbccd1	T	C	16: 22,640,873 (GRCm39)	I501M	probably damaging	Het
Tjp2	C	A	19: 24,075,493 (GRCm39)	G1042*	probably null	Het
Tmtc2	T	C	10: 105,249,268 (GRCm39)	Y155C	probably damaging	Het
Usp7	T	C	16: 8,516,359 (GRCm39)	N600S	probably benign	Het
Zer1	T	C	2: 29,991,132 (GRCm39)	I699V	probably damaging	Het
Zfp142	A	G	1: 74,618,687 (GRCm39)	F227S	probably damaging	Het

Other mutations in Mettl9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00491:Mettl9	APN	7	120,651,336 (GRCm39)	missense	probably damaging	1.00
IGL01723:Mettl9	APN	7	120,651,492 (GRCm39)	missense	possibly damaging	0.67
R0401:Mettl9	UTSW	7	120,675,536 (GRCm39)	missense	probably damaging	1.00
R1004:Mettl9	UTSW	7	120,675,460 (GRCm39)	missense	probably benign	0.00
R1734:Mettl9	UTSW	7	120,647,064 (GRCm39)	missense	probably damaging	1.00
R5574:Mettl9	UTSW	7	120,647,093 (GRCm39)	missense	probably benign	0.03
R7913:Mettl9	UTSW	7	120,675,524 (GRCm39)	missense	probably damaging	1.00
R8913:Mettl9	UTSW	7	120,675,539 (GRCm39)	missense	probably damaging	1.00
R9446:Mettl9	UTSW	7	120,675,531 (GRCm39)	missense	possibly damaging	0.77
Z1177:Mettl9	UTSW	7	120,656,553 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGTGCATATTTTGAGTACACATTG -3'
(R):5'- TCTGAGAAGAGCTGGCCTGC -3'

Sequencing Primer
(F):5'- GCTGGCCTTGAATTTACAGAGACC -3'
(R):5'- CCGTTTTCTACATAGGGATGAAAGG -3'

Posted On

2019-06-07