Mutagenetix > Incidental Mutation

Incidental Mutation 'R6250:Eef1a2'

505898

Institutional Source

Beutler Lab

Gene Symbol

Eef1a2

Ensembl Gene

ENSMUSG00000016349

Gene Name

eukaryotic translation elongation factor 1 alpha 2

Synonyms

S1, Eef1a

MMRRC Submission

044367-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6250 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

180789446-180798807 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 180792853 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 211 (F211L)

Ref Sequence

ENSEMBL: ENSMUSP00000054556 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055990]

AlphaFold

P62631

Predicted Effect

possibly damaging
Transcript: ENSMUST00000055990
AA Change: F211L

PolyPhen 2 Score 0.701 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000054556
Gene: ENSMUSG00000016349
AA Change: F211L

Domain	Start	End	E-Value	Type
Pfam:GTP_EFTU	5	238	5.3e-56	PFAM
Pfam:GTP_EFTU_D2	260	327	1.5e-15	PFAM
Pfam:GTP_EFTU_D3	333	442	8.4e-42	PFAM

Meta Mutation Damage Score

0.4799

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.5%

Validation Efficiency

98% (60/61)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an isoform of the alpha subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This isoform (alpha 2) is expressed in brain, heart and skeletal muscle, and the other isoform (alpha 1) is expressed in brain, placenta, lung, liver, kidney, and pancreas. This gene may be critical in the development of ovarian cancer. [provided by RefSeq, Mar 2014]
PHENOTYPE: Homozygotes for a spontaneous mutation exhibit muscle wasting, lymphoid hypoplasia, lack of intestinal IgA plasma cells, cerebellar dysfunction, neurodegeneration, an age-dependent increase in chromosomal aberrations, and lethality around 28 days of age. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12	T	C	2: 150,681,667 (GRCm39)	Y241C	probably damaging	Het
Ak9	T	C	10: 41,265,030 (GRCm39)	V929A	possibly damaging	Het
Ap3s1	T	C	18: 46,887,514 (GRCm39)	F49S	probably damaging	Het
Atp9b	T	C	18: 80,799,736 (GRCm39)	H801R	probably benign	Het
B430218F22Rik	A	G	13: 118,523,944 (GRCm39)		probably benign	Het
Ccnd3	T	A	17: 47,908,487 (GRCm39)	L186*	probably null	Het
Cnbd1	T	A	4: 19,098,255 (GRCm39)	Q55L	probably benign	Het
Commd10	A	G	18: 47,096,755 (GRCm39)	E54G	probably damaging	Het
Cplx3	A	G	9: 57,522,907 (GRCm39)	V151A	probably benign	Het
D6Ertd527e	G	A	6: 87,088,194 (GRCm39)	G119D	unknown	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Disp2	A	T	2: 118,621,247 (GRCm39)	I660F	probably damaging	Het
Epb41	A	T	4: 131,717,184 (GRCm39)	F323L	probably damaging	Het
Eps8l3	A	T	3: 107,797,781 (GRCm39)	I403F	probably benign	Het
Ercc5	T	A	1: 44,203,209 (GRCm39)	V282D	probably damaging	Het
Faim	A	T	9: 98,874,176 (GRCm39)	M1L	probably benign	Het
Fbxo24	A	G	5: 137,619,543 (GRCm39)	F111L	probably damaging	Het
Fcgbpl1	G	A	7: 27,850,139 (GRCm39)	G1195D	probably damaging	Het
Glrx	A	T	13: 75,988,229 (GRCm39)	I48F	probably damaging	Het
Gucy2g	A	T	19: 55,205,856 (GRCm39)	L668Q	probably damaging	Het
Hectd4	A	G	5: 121,477,561 (GRCm39)	D2828G	possibly damaging	Het
Hivep2	T	C	10: 14,007,503 (GRCm39)	V1367A	probably benign	Het
Hrob	A	G	11: 102,145,888 (GRCm39)	T55A	probably benign	Het
Ipo13	A	G	4: 117,769,351 (GRCm39)	V147A	possibly damaging	Het
Jchain	T	C	5: 88,674,034 (GRCm39)	T37A	probably benign	Het
Kif1b	A	G	4: 149,298,100 (GRCm39)	V1034A	probably benign	Het
Krt25	T	A	11: 99,211,989 (GRCm39)	N216I	probably damaging	Het
Mfsd4b1	T	C	10: 39,879,106 (GRCm39)	S264G	possibly damaging	Het
Mxra8	G	T	4: 155,925,546 (GRCm39)	R82L	possibly damaging	Het
Nlrp1b	A	T	11: 71,072,625 (GRCm39)	I406N	probably benign	Het
Or13c7	T	C	4: 43,854,363 (GRCm39)	L18P	possibly damaging	Het
Or2y11	A	T	11: 49,442,711 (GRCm39)	I46F	probably damaging	Het
Or5h23	G	A	16: 58,906,195 (GRCm39)	S217F	probably damaging	Het
Pak5	T	C	2: 136,016,189 (GRCm39)		probably benign	Het
Pcsk4	T	C	10: 80,161,426 (GRCm39)	R222G	probably benign	Het
Pik3cb	A	C	9: 98,976,651 (GRCm39)	F149V	probably benign	Het
Plscr4	G	A	9: 92,366,881 (GRCm39)	R165Q	possibly damaging	Het
Ppp2r2a	A	T	14: 67,276,403 (GRCm39)	V34E	probably damaging	Het
Prpf8	T	G	11: 75,384,334 (GRCm39)	S659R	possibly damaging	Het
Ptprd	A	G	4: 76,047,232 (GRCm39)	S342P	probably damaging	Het
Pum2	T	C	12: 8,794,755 (GRCm39)		probably null	Het
Ranbp3	T	G	17: 56,984,208 (GRCm39)		probably null	Het
Rassf7	A	G	7: 140,797,156 (GRCm39)	E123G	probably damaging	Het
Rcor1	G	T	12: 111,078,311 (GRCm39)	A469S	probably benign	Het
Rcor3	G	T	1: 191,785,196 (GRCm39)	P524Q	probably damaging	Het
Rnf44	A	T	13: 54,829,920 (GRCm39)		probably null	Het
Rtf1	T	C	2: 119,505,658 (GRCm39)	V37A	unknown	Het
Sdc4	A	T	2: 164,273,138 (GRCm39)	D57E	probably damaging	Het
Setbp1	T	C	18: 78,901,217 (GRCm39)	T817A	probably benign	Het
Setd1a	A	G	7: 127,390,471 (GRCm39)	E506G	unknown	Het
Slc30a8	G	A	15: 52,198,545 (GRCm39)	R330Q	probably benign	Het
Snx22	C	A	9: 65,976,923 (GRCm39)	E14*	probably null	Het
Spata31d1a	A	G	13: 59,849,615 (GRCm39)	S838P	possibly damaging	Het
Sprr4	G	T	3: 92,407,770 (GRCm39)	Q11K	unknown	Het
Trpm3	A	G	19: 22,887,418 (GRCm39)	N839S	probably benign	Het
Vps9d1	T	C	8: 123,974,947 (GRCm39)		probably null	Het
Vwa3b	T	C	1: 37,090,966 (GRCm39)		probably null	Het
Ythdf1	T	C	2: 180,552,893 (GRCm39)	T414A	probably damaging	Het
Zfp709	TCGACG	TCG	8: 72,644,552 (GRCm39)		probably benign	Het

Other mutations in Eef1a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00741:Eef1a2	APN	2	180,794,803 (GRCm39)	missense	possibly damaging	0.95
IGL02098:Eef1a2	APN	2	180,794,582 (GRCm39)	missense	probably benign
IGL02717:Eef1a2	APN	2	180,794,694 (GRCm39)	missense	probably benign
IGL03264:Eef1a2	APN	2	180,790,527 (GRCm39)	missense	possibly damaging	0.89
IGL03308:Eef1a2	APN	2	180,790,629 (GRCm39)	splice site	probably benign
R1680:Eef1a2	UTSW	2	180,794,734 (GRCm39)	missense	possibly damaging	0.84
R2140:Eef1a2	UTSW	2	180,790,535 (GRCm39)	missense	probably benign	0.03
R3877:Eef1a2	UTSW	2	180,794,626 (GRCm39)	missense	probably damaging	0.99
R4706:Eef1a2	UTSW	2	180,797,150 (GRCm39)	missense	probably damaging	0.96
R4902:Eef1a2	UTSW	2	180,789,881 (GRCm39)	missense	probably benign	0.02
R5846:Eef1a2	UTSW	2	180,794,776 (GRCm39)	missense	probably damaging	1.00
R6864:Eef1a2	UTSW	2	180,791,477 (GRCm39)	missense	probably benign	0.00
R6991:Eef1a2	UTSW	2	180,790,421 (GRCm39)	missense	possibly damaging	0.70
R9153:Eef1a2	UTSW	2	180,789,774 (GRCm39)	makesense	probably null
X0027:Eef1a2	UTSW	2	180,792,829 (GRCm39)	missense	probably benign	0.38

Predicted Primers

PCR Primer
(F):5'- TCCTAGTCAGGGTTTGGAGC -3'
(R):5'- ATTAGGGAATCAGGCCAGGC -3'

Sequencing Primer
(F):5'- CTAGTCAGGGTTTGGAGCAGAGTAG -3'
(R):5'- TCCCTGTGAGGCTAGGAAG -3'

Posted On

2018-02-28