Mutagenetix > Incidental Mutation

Incidental Mutation 'R5025:Eef1akmt2'

453248

Institutional Source

Beutler Lab

Gene Symbol

Eef1akmt2

Ensembl Gene

ENSMUSG00000030960

Gene Name

EEF1A lysine methyltransferase 2

Synonyms

Mettl10, 2010208K18Rik

MMRRC Submission

042616-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5025 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

132429186-132454376 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 132453218 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Leucine at position 38 (W38L)

Ref Sequence

ENSEMBL: ENSMUSP00000140096 (fasta)

Gene Model

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

AlphaFold

Q9D853

Predicted Effect

probably damaging
Transcript: ENSMUST00000033257
AA Change: W38L

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

SMART Domains

Protein: ENSMUSP00000033257
Gene: ENSMUSG00000030960
AA Change: W38L

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 damaging
Transcript: ENSMUST00000120425
AA Change: W38L

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

SMART Domains

Protein: ENSMUSP00000113039
Gene: ENSMUSG00000030960
AA Change: W38L

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

unknown
Transcript: ENSMUST00000141920
AA Change: W30L

Predicted Effect

probably damaging
Transcript: ENSMUST00000152410
AA Change: W38L

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

SMART Domains

Protein: ENSMUSP00000140096
Gene: ENSMUSG00000030960
AA Change: W38L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154914

Meta Mutation Damage Score

0.9117

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm2	T	A	7: 119,153,719 (GRCm39)	F10I	unknown	Het
Adad1	G	T	3: 37,119,359 (GRCm39)	A147S	probably damaging	Het
Atg14	T	G	14: 47,783,273 (GRCm39)	N354T	probably damaging	Het
Brip1	T	A	11: 85,955,806 (GRCm39)	E902D	probably benign	Het
Brwd1	A	G	16: 95,855,172 (GRCm39)	S419P	probably damaging	Het
Camsap3	A	G	8: 3,654,244 (GRCm39)	K638R	probably damaging	Het
Dennd4c	T	A	4: 86,713,536 (GRCm39)		probably null	Het
Dnah3	T	C	7: 119,671,128 (GRCm39)	N585S	probably benign	Het
Fasn	A	T	11: 120,702,734 (GRCm39)	D1709E	probably benign	Het
Fbrsl1	T	C	5: 110,565,767 (GRCm39)	D179G	probably damaging	Het
Fbxl18	A	T	5: 142,872,068 (GRCm39)	I389N	probably damaging	Het
Fuca1	G	T	4: 135,660,237 (GRCm39)	G252C	probably damaging	Het
Fut9	T	A	4: 25,620,502 (GRCm39)	H104L	probably damaging	Het
Glra1	C	T	11: 55,427,331 (GRCm39)		probably null	Het
Gpsm1	T	C	2: 26,210,008 (GRCm39)	V45A	possibly damaging	Het
Hadha	A	G	5: 30,359,959 (GRCm39)		probably benign	Het
Hddc2	C	T	10: 31,203,949 (GRCm39)	T192I	probably benign	Het
Herc1	A	T	9: 66,377,608 (GRCm39)	K3458M	possibly damaging	Het
Igkv14-100	A	G	6: 68,496,383 (GRCm39)	D92G	probably damaging	Het
Il17rc	T	C	6: 113,449,327 (GRCm39)	V88A	possibly damaging	Het
Inpp5j	T	C	11: 3,450,664 (GRCm39)	D563G	probably damaging	Het
Lamc3	T	A	2: 31,798,681 (GRCm39)	N462K	probably benign	Het
Mrpl15	T	C	1: 4,854,368 (GRCm39)		probably benign	Het
Myh7b	G	C	2: 155,474,293 (GRCm39)	R1669S	possibly damaging	Het
Obi1	C	T	14: 104,745,466 (GRCm39)	G70E	probably damaging	Het
Or2n1c	T	C	17: 38,519,334 (GRCm39)	L66P	probably damaging	Het
Or5b122	G	T	19: 13,562,886 (GRCm39)	A30S	probably benign	Het
Psg20	T	C	7: 18,408,291 (GRCm39)	*473W	probably null	Het
Rimbp3	A	G	16: 17,027,671 (GRCm39)	E365G	probably damaging	Het
Snai2	A	G	16: 14,526,053 (GRCm39)	T235A	possibly damaging	Het
Tg	A	T	15: 66,579,779 (GRCm39)	Y1528F	probably damaging	Het
Tlr3	A	G	8: 45,856,075 (GRCm39)	V35A	probably benign	Het
Tnfsf15	T	C	4: 63,648,125 (GRCm39)	I172V	probably benign	Het
Tns1	G	A	1: 73,964,641 (GRCm39)	T1330I	probably damaging	Het
Zc3h6	T	A	2: 128,852,353 (GRCm39)	F330I	possibly damaging	Het
Zdbf2	A	G	1: 63,342,809 (GRCm39)	E396G	possibly damaging	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
IGL02477:Eef1akmt2	APN	7	132,452,318 (GRCm39)	splice site	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- GTCACAGAAGCCAGATTCAGC -3'
(R):5'- AGTGTTCATCCGATGGGTATAAGTAC -3'

Sequencing Primer
(F):5'- CCCCGAGCTTCTGAAGAGCTC -3'
(R):5'- ATCCGATGGGTATAAGTACTTGTACG -3'

Posted On

2017-02-01