Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02477:Eef1akmt2'

295020

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Eef1akmt2

Ensembl Gene

ENSMUSG00000030960

Gene Name

EEF1A lysine methyltransferase 2

Synonyms

Mettl10, 2010208K18Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02477

Quality Score

Status

Chromosome

Chromosomal Location

132429186-132454376 bp(-) (GRCm39)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

A to T at 132452318 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000113039 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033257] [ENSMUST00000120425] [ENSMUST00000124096] [ENSMUST00000152410]

AlphaFold

Q9D853

Predicted Effect

probably null
Transcript: ENSMUST00000033257

SMART Domains

Protein: ENSMUSP00000033257
Gene: ENSMUSG00000030960

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_23	42	183	2.8e-9	PFAM
Pfam:PrmA	64	159	8.6e-7	PFAM
Pfam:Methyltransf_31	79	234	1.1e-16	PFAM
Pfam:Methyltransf_18	80	192	7.1e-16	PFAM
Pfam:Methyltransf_11	84	189	2.8e-8	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000120425

SMART Domains

Protein: ENSMUSP00000113039
Gene: ENSMUSG00000030960

Domain	Start	End	E-Value	Type
SCOP:d1f3la_	36	96	8e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000124096

SMART Domains

Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849

Domain	Start	End	E-Value	Type
Pfam:Pkinase	1	118	4.8e-19	PFAM
Pfam:Pkinase_Tyr	1	118	1.7e-50	PFAM
low complexity region	146	160	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135932

Predicted Effect

probably benign
Transcript: ENSMUST00000141920

Predicted Effect

probably benign
Transcript: ENSMUST00000152410

SMART Domains

Protein: ENSMUSP00000140096
Gene: ENSMUSG00000030960

Domain	Start	End	E-Value	Type
SCOP:d1jsxa_	36	97	8e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154914

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	T	A	4: 103,127,943 (GRCm39)	I61F	probably benign	Het
Abr	T	C	11: 76,352,186 (GRCm39)	K280E	probably damaging	Het
Acaca	T	C	11: 84,197,994 (GRCm39)		probably benign	Het
Cep131	C	T	11: 119,961,406 (GRCm39)	V582I	probably damaging	Het
Colec12	A	G	18: 9,859,858 (GRCm39)	N613D	unknown	Het
Cyp4f39	A	G	17: 32,708,619 (GRCm39)	T389A	probably benign	Het
D630003M21Rik	T	C	2: 158,059,408 (GRCm39)	N164S	probably benign	Het
Elp3	T	C	14: 65,800,760 (GRCm39)	T283A	probably benign	Het
Fads3	C	A	19: 10,033,806 (GRCm39)	P397Q	probably damaging	Het
Fam171a1	T	C	2: 3,203,612 (GRCm39)	V198A	possibly damaging	Het
Fam171a2	T	C	11: 102,330,854 (GRCm39)	I208M	probably benign	Het
Fbxw17	G	A	13: 50,577,853 (GRCm39)	V119M	possibly damaging	Het
Gtf2ird1	G	A	5: 134,408,832 (GRCm39)	T140M	probably damaging	Het
Hspa14	C	T	2: 3,497,661 (GRCm39)	S277N	probably damaging	Het
Hspg2	C	T	4: 137,271,823 (GRCm39)		probably benign	Het
Ing2	G	T	8: 48,122,303 (GRCm39)	R82S	possibly damaging	Het
Kat6a	A	G	8: 23,419,316 (GRCm39)	Y693C	probably damaging	Het
Kcna7	A	G	7: 45,059,047 (GRCm39)	M445V	probably benign	Het
Lifr	T	G	15: 7,216,404 (GRCm39)	I793S	probably damaging	Het
Lrrd1	T	A	5: 3,915,770 (GRCm39)	M789K	probably benign	Het
Myom3	T	A	4: 135,506,679 (GRCm39)	L484Q	probably benign	Het
Nav2	T	A	7: 49,232,623 (GRCm39)	M1860K	probably damaging	Het
Nipbl	C	T	15: 8,353,131 (GRCm39)		probably null	Het
Nsun7	T	A	5: 66,433,992 (GRCm39)	I214K	probably damaging	Het
Or5k17	T	C	16: 58,746,126 (GRCm39)	I269M	probably benign	Het
Or8c20	C	T	9: 38,260,421 (GRCm39)	S8L	probably benign	Het
Osm	T	A	11: 4,189,604 (GRCm39)	N129K	probably damaging	Het
Plce1	C	T	19: 38,707,997 (GRCm39)		probably benign	Het
Plch1	A	G	3: 63,660,714 (GRCm39)	F302L	probably damaging	Het
Pld2	T	C	11: 70,431,751 (GRCm39)	V27A	possibly damaging	Het
Prex2	A	G	1: 11,274,378 (GRCm39)	D1350G	probably benign	Het
Psme4	T	A	11: 30,792,083 (GRCm39)	V1190D	probably damaging	Het
Sema3g	G	T	14: 30,949,823 (GRCm39)	R668L	probably damaging	Het
Sprr2f	T	A	3: 92,273,204 (GRCm39)	M1K	probably null	Het
Sult6b2	G	A	6: 142,747,447 (GRCm39)	P101S	probably damaging	Het
Trem3	G	A	17: 48,556,864 (GRCm39)	V112I	probably benign	Het
Ttll9	T	A	2: 152,842,117 (GRCm39)	F324I	possibly damaging	Het
Ttn	T	A	2: 76,557,104 (GRCm39)	D29967V	probably damaging	Het
Ubr4	A	G	4: 139,163,516 (GRCm39)	K2639E	probably damaging	Het
Vwce	T	C	19: 10,641,982 (GRCm39)		probably null	Het
Zbtb14	T	A	17: 69,694,690 (GRCm39)	D129E	probably benign	Het
Zmym6	C	T	4: 126,972,295 (GRCm39)	Q16*	probably null	Het

Other mutations in Eef1akmt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01548:Eef1akmt2	APN	7	132,433,134 (GRCm39)	missense	probably damaging	1.00
IGL02984:Eef1akmt2	UTSW	7	132,438,935 (GRCm39)	makesense	probably null
R0082:Eef1akmt2	UTSW	7	132,453,201 (GRCm39)	nonsense	probably null
R3843:Eef1akmt2	UTSW	7	132,433,305 (GRCm39)	missense	probably damaging	1.00
R5025:Eef1akmt2	UTSW	7	132,453,218 (GRCm39)	missense	probably damaging	1.00
R6234:Eef1akmt2	UTSW	7	132,429,585 (GRCm39)	missense	probably damaging	0.99
R8719:Eef1akmt2	UTSW	7	132,452,340 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16