Mutagenetix > Incidental Mutation

Incidental Mutation 'R3843:Eef1akmt2'

277247

Institutional Source

Beutler Lab

Gene Symbol

Eef1akmt2

Ensembl Gene

ENSMUSG00000030960

Gene Name

EEF1A lysine methyltransferase 2

Synonyms

Mettl10, 2010208K18Rik

MMRRC Submission

040783-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3843 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

132429186-132454376 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 132433305 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 134 (V134I)

Ref Sequence

ENSEMBL: ENSMUSP00000033257 (fasta)

Gene Model

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

AlphaFold

Q9D853

Predicted Effect

probably damaging
Transcript: ENSMUST00000033257
AA Change: V134I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000033257
Gene: ENSMUSG00000030960
AA Change: V134I

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 benign
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

Meta Mutation Damage Score

0.1322

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

100% (35/35)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	A	T	6: 23,092,495 (GRCm39)	Y168*	probably null	Het
Amt	C	T	9: 108,174,420 (GRCm39)	R62C	possibly damaging	Het
Arid2	C	T	15: 96,249,721 (GRCm39)	T145I	possibly damaging	Het
Ccdc8	T	C	7: 16,729,039 (GRCm39)	V176A	probably damaging	Het
Cdhr1	G	T	14: 36,806,884 (GRCm39)	F440L	probably benign	Het
Ckap2	A	T	8: 22,665,774 (GRCm39)	N424K	probably damaging	Het
Col6a1	C	T	10: 76,547,175 (GRCm39)	R730H	unknown	Het
Dennd1b	C	A	1: 138,981,092 (GRCm39)	P102Q	probably damaging	Het
E2f1	A	G	2: 154,402,748 (GRCm39)	S340P	probably benign	Het
Elp3	A	T	14: 65,802,932 (GRCm39)		probably null	Het
Grap	T	G	11: 61,551,151 (GRCm39)		probably null	Het
Heatr1	T	C	13: 12,450,002 (GRCm39)	Y1999H	probably benign	Het
Hectd4	G	T	5: 121,397,936 (GRCm39)	W288L	possibly damaging	Het
Hnf4g	G	A	3: 3,716,362 (GRCm39)	C262Y	probably benign	Het
Hrh4	A	G	18: 13,155,343 (GRCm39)	Y294C	possibly damaging	Het
Igkv5-39	C	A	6: 69,877,526 (GRCm39)	G77W	probably damaging	Het
Kdm2b	A	T	5: 123,072,856 (GRCm39)	Y341N	probably damaging	Het
Kif26b	T	C	1: 178,755,742 (GRCm39)	L1952P	probably damaging	Het
Lgr4	C	T	2: 109,827,118 (GRCm39)		probably benign	Het
Nlrc3	G	A	16: 3,782,828 (GRCm39)	R194W	probably benign	Het
Nup214	T	C	2: 31,941,112 (GRCm39)	F547L	probably damaging	Het
Or5m3	A	G	2: 85,838,548 (GRCm39)	I143V	probably benign	Het
Pdp1	T	C	4: 11,961,961 (GRCm39)	K117E	probably benign	Het
Phtf2	G	A	5: 20,979,020 (GRCm39)	A31V	probably damaging	Het
Pip4p2	T	A	4: 14,886,553 (GRCm39)	Y42*	probably null	Het
Pkhd1	A	T	1: 20,628,947 (GRCm39)	C667S	probably benign	Het
Pnp2	T	A	14: 51,200,878 (GRCm39)	L121Q	probably null	Het
Ppfia1	C	T	7: 144,058,707 (GRCm39)	R698Q	probably benign	Het
Sidt1	A	T	16: 44,104,587 (GRCm39)	F275I	probably benign	Het
Slc50a1	A	T	3: 89,177,207 (GRCm39)	I70N	probably damaging	Het
Sytl2	C	G	7: 90,009,367 (GRCm39)	T123R	possibly damaging	Het
Tlk1	T	A	2: 70,579,671 (GRCm39)	T214S	probably benign	Het
Tmco3	A	G	8: 13,346,114 (GRCm39)		probably benign	Het
Trim71	T	C	9: 114,344,914 (GRCm39)	T335A	probably benign	Het
Zbtb47	T	A	9: 121,592,499 (GRCm39)	V273E	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
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

Predicted Primers

PCR Primer
(F):5'- TGCCTTGGTCCAATTACATGAGG -3'
(R):5'- GAGATTTGAAATGTCCAGGAAACAC -3'

Sequencing Primer
(F):5'- TTGGTCCAATTACATGAGGTTATTAG -3'
(R):5'- GGCTTTAATGATCTAGGAAACAAAGC -3'

Posted On

2015-04-06