Mutagenetix > Incidental Mutation

Incidental Mutation 'R3877:Eef1a2'

276889

Institutional Source

Beutler Lab

Gene Symbol

Eef1a2

Ensembl Gene

ENSMUSG00000016349

Gene Name

eukaryotic translation elongation factor 1 alpha 2

Synonyms

S1, Eef1a

MMRRC Submission

040904-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3877 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

180789446-180798807 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 180794626 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 191 (V191E)

Ref Sequence

ENSEMBL: ENSMUSP00000054556 (fasta)

Gene Model

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

AlphaFold

P62631

Predicted Effect

probably damaging
Transcript: ENSMUST00000055990
AA Change: V191E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000054556
Gene: ENSMUSG00000016349
AA Change: V191E

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

0.9674

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.2%

Validation Efficiency

100% (49/49)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam20	G	A	8: 41,249,671 (GRCm39)	V594I	possibly damaging	Het
Adgb	A	T	10: 10,318,227 (GRCm39)		probably null	Het
Adgrb3	A	C	1: 25,150,906 (GRCm39)	L1109R	probably damaging	Het
Angptl4	G	A	17: 33,996,008 (GRCm39)	P323S	possibly damaging	Het
Arhgap21	A	T	2: 20,864,717 (GRCm39)	M1197K	probably damaging	Het
Arhgef40	A	G	14: 52,239,742 (GRCm39)	T1319A	probably damaging	Het
C4bp	A	G	1: 130,575,764 (GRCm39)		probably null	Het
Cd200r1	T	C	16: 44,610,374 (GRCm39)	S161P	possibly damaging	Het
Ckap5	A	G	2: 91,445,495 (GRCm39)	K1711E	possibly damaging	Het
Cldn19	T	C	4: 119,114,094 (GRCm39)	S79P	possibly damaging	Het
Cplane1	T	C	15: 8,251,427 (GRCm39)	S1900P	probably benign	Het
Dnah17	T	G	11: 117,915,533 (GRCm39)	N4334T	probably damaging	Het
Dpm2	G	A	2: 32,462,412 (GRCm39)		probably null	Het
Gmds	G	A	13: 32,411,248 (GRCm39)	T62I	probably damaging	Het
Hyal5	A	T	6: 24,876,630 (GRCm39)	I168F	probably damaging	Het
Idh3a	T	C	9: 54,499,679 (GRCm39)	V31A	probably benign	Het
Inf2	C	A	12: 112,577,264 (GRCm39)	A1036E	unknown	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Kidins220	T	A	12: 25,051,564 (GRCm39)		probably benign	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lrp1b	A	G	2: 41,335,206 (GRCm39)	C779R	probably damaging	Het
Lrp2	A	G	2: 69,289,816 (GRCm39)		probably null	Het
Lrp2	G	A	2: 69,379,391 (GRCm39)	T107M	probably damaging	Het
Lrpap1	T	C	5: 35,255,547 (GRCm39)	E184G	probably benign	Het
Mapre1	C	T	2: 153,588,201 (GRCm39)	T8M	possibly damaging	Het
Mms19	G	A	19: 41,954,695 (GRCm39)	Q75*	probably null	Het
Mtcl1	T	C	17: 66,649,949 (GRCm39)	I1390V	probably damaging	Het
Muc5b	A	G	7: 141,411,289 (GRCm39)	S1412G	unknown	Het
Myh4	A	T	11: 67,148,009 (GRCm39)	Q1686L	probably benign	Het
Or1e25	A	T	11: 73,493,979 (GRCm39)	D191V	probably damaging	Het
Or9s13	A	T	1: 92,547,805 (GRCm39)	D59V	probably damaging	Het
Rcvrn	A	T	11: 67,590,802 (GRCm39)	I129F	probably damaging	Het
Reg3b	T	A	6: 78,348,216 (GRCm39)	M10K	possibly damaging	Het
Rimbp2	T	A	5: 128,850,529 (GRCm39)	E918V	probably damaging	Het
Rpl5	A	G	5: 108,051,667 (GRCm39)	T154A	probably benign	Het
Sall4	A	C	2: 168,598,162 (GRCm39)	L195R	probably damaging	Het
Sh3gl2	T	C	4: 85,297,618 (GRCm39)	S199P	possibly damaging	Het
Shank1	G	T	7: 43,994,416 (GRCm39)	R859L	unknown	Het
Thsd7b	A	G	1: 130,117,919 (GRCm39)	E1445G	possibly damaging	Het
Tnfaip6	A	G	2: 51,942,339 (GRCm39)	E216G	probably benign	Het
Tram1	T	C	1: 13,639,827 (GRCm39)	T307A	probably benign	Het
Trpv5	A	G	6: 41,637,277 (GRCm39)	V354A	probably benign	Het
Tyro3	A	G	2: 119,643,774 (GRCm39)	E745G	probably damaging	Het
Vmn1r68	A	T	7: 10,261,408 (GRCm39)	I230N	probably damaging	Het
Vmn2r28	A	T	7: 5,491,357 (GRCm39)	W297R	probably damaging	Het
Vrk3	A	T	7: 44,412,460 (GRCm39)		probably null	Het
Zfhx4	T	C	3: 5,465,845 (GRCm39)	V2001A	probably benign	Het
Zfp512b	AG	AGG	2: 181,230,556 (GRCm39)		probably null	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
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
R6250:Eef1a2	UTSW	2	180,792,853 (GRCm39)	missense	possibly damaging	0.70
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'- GGTCTTCATCACCACAGAGCTC -3'
(R):5'- ACTGTGTCTGACCTGTTGGC -3'

Sequencing Primer
(F):5'- GAGCTCACAGAAACCTAGCAAG -3'
(R):5'- ACTGCGCAGTGCTGATC -3'

Posted On

2015-04-06