Mutagenetix > Incidental Mutation

Incidental Mutation 'R1680:Eef1a2'

188393

Institutional Source

Beutler Lab

Gene Symbol

Eef1a2

Ensembl Gene

ENSMUSG00000016349

Gene Name

eukaryotic translation elongation factor 1 alpha 2

Synonyms

S1, Eef1a

MMRRC Submission

039716-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1680 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

180789446-180798807 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 180794734 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 155 (M155K)

Ref Sequence

ENSEMBL: ENSMUSP00000054556 (fasta)

Gene Model

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

AlphaFold

P62631

Predicted Effect

possibly damaging
Transcript: ENSMUST00000055990
AA Change: M155K

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000054556
Gene: ENSMUSG00000016349
AA Change: M155K

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	C	G	10: 100,439,390 (GRCm39)	P187R	probably damaging	Het
Ahnak	T	A	19: 8,987,327 (GRCm39)	H2870Q	probably benign	Het
Arhgef33	C	T	17: 80,655,080 (GRCm39)	S95F	probably damaging	Het
Atp1a2	T	A	1: 172,106,521 (GRCm39)	D827V	probably damaging	Het
Bcat1	T	G	6: 144,985,354 (GRCm39)	D96A	probably damaging	Het
Birc6	A	T	17: 74,855,741 (GRCm39)	I184L	probably benign	Het
Clca3b	A	T	3: 144,543,585 (GRCm39)	L415M	probably damaging	Het
Clstn1	T	C	4: 149,728,183 (GRCm39)	V617A	probably benign	Het
Col22a1	G	A	15: 71,671,210 (GRCm39)	A1050V	unknown	Het
Col5a3	C	T	9: 20,695,964 (GRCm39)		probably null	Het
Csmd3	G	A	15: 47,604,566 (GRCm39)	T1059I	probably damaging	Het
Dclk2	C	T	3: 86,712,946 (GRCm39)	R503Q	possibly damaging	Het
Dnm3	A	G	1: 161,838,545 (GRCm39)	V272A	probably benign	Het
Dnmt3a	A	G	12: 3,923,361 (GRCm39)	Q187R	probably damaging	Het
Dpp9	A	G	17: 56,497,103 (GRCm39)	Y710H	probably benign	Het
Entpd8	G	A	2: 24,974,036 (GRCm39)	C331Y	probably damaging	Het
Erc1	A	C	6: 119,552,722 (GRCm39)	L1072R	probably damaging	Het
Fhip2b	T	C	14: 70,824,291 (GRCm39)	Y482C	probably damaging	Het
Gtf3c2	A	G	5: 31,331,212 (GRCm39)	S155P	probably damaging	Het
Gucy2c	A	G	6: 136,699,491 (GRCm39)	S617P	probably damaging	Het
Ice1	T	C	13: 70,753,567 (GRCm39)	R840G	probably benign	Het
Il1rl2	T	C	1: 40,390,953 (GRCm39)	Y299H	possibly damaging	Het
Ints7	T	G	1: 191,353,274 (GRCm39)		probably null	Het
Ireb2	C	T	9: 54,788,802 (GRCm39)	T92I	probably damaging	Het
Itprid1	C	T	6: 55,945,751 (GRCm39)	T824I	probably damaging	Het
Kcnj8	A	T	6: 142,515,915 (GRCm39)	L64*	probably null	Het
Mapk8ip3	A	G	17: 25,119,985 (GRCm39)	V983A	probably damaging	Het
Mertk	A	G	2: 128,643,556 (GRCm39)	D985G	probably benign	Het
Mical3	A	T	6: 120,936,604 (GRCm39)	S1307R	probably benign	Het
Mtcl3	A	T	10: 29,072,835 (GRCm39)	Q709L	probably damaging	Het
Ncaph2	A	G	15: 89,248,825 (GRCm39)	D222G	probably benign	Het
Nf1	C	A	11: 79,441,824 (GRCm39)	S295*	probably null	Het
Nlrp12	T	A	7: 3,289,804 (GRCm39)	D236V	probably damaging	Het
Npnt	A	G	3: 132,612,563 (GRCm39)	V74A	probably benign	Het
Oasl1	A	G	5: 115,074,003 (GRCm39)	D304G	probably damaging	Het
Or52i2	A	G	7: 102,319,940 (GRCm39)	D271G	possibly damaging	Het
Or7g12	A	G	9: 18,899,812 (GRCm39)	H176R	possibly damaging	Het
Or8g22	T	C	9: 38,958,296 (GRCm39)	I140V	probably benign	Het
Or8h8	C	T	2: 86,753,505 (GRCm39)	V124I	probably benign	Het
Patz1	A	G	11: 3,257,812 (GRCm39)	K604E	probably damaging	Het
Pcsk6	T	A	7: 65,684,998 (GRCm39)	V793E	probably benign	Het
Pla2g4d	C	T	2: 120,108,231 (GRCm39)		probably null	Het
Plxnc1	A	C	10: 94,677,413 (GRCm39)	L938R	probably benign	Het
Pou4f2	G	T	8: 79,161,460 (GRCm39)	A381D	probably damaging	Het
Prdm4	A	G	10: 85,735,087 (GRCm39)	L685P	possibly damaging	Het
Pxn	T	A	5: 115,690,206 (GRCm39)	V383E	probably damaging	Het
Rbl1	A	G	2: 157,016,703 (GRCm39)	L632P	probably damaging	Het
Rnf135	T	A	11: 80,087,707 (GRCm39)	S219T	possibly damaging	Het
Sdk2	T	C	11: 113,682,262 (GRCm39)	D2039G	possibly damaging	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Slc5a6	A	G	5: 31,199,988 (GRCm39)	Y131H	probably damaging	Het
Slc9a1	T	C	4: 133,145,391 (GRCm39)	I492T	probably damaging	Het
Spag5	A	G	11: 78,211,442 (GRCm39)	K993E	probably damaging	Het
Sptbn1	T	G	11: 30,109,371 (GRCm39)	I75L	possibly damaging	Het
Syngap1	T	C	17: 27,171,553 (GRCm39)	S46P	possibly damaging	Het
Tfcp2l1	T	A	1: 118,603,335 (GRCm39)	F458I	probably damaging	Het
Tmem67	A	G	4: 12,087,840 (GRCm39)	V102A	probably benign	Het
Tomm70a	T	C	16: 56,942,324 (GRCm39)	S34P	unknown	Het
Txlnb	G	T	10: 17,718,981 (GRCm39)	G604V	probably benign	Het
Ube2q1	A	G	3: 89,683,483 (GRCm39)	T143A	probably benign	Het
Unc80	C	T	1: 66,542,828 (GRCm39)	R361*	probably null	Het
Vcan	T	C	13: 89,851,666 (GRCm39)	D1098G	probably benign	Het
Vmn1r176	T	A	7: 23,534,806 (GRCm39)	T116S	probably damaging	Het
Wdr81	C	T	11: 75,345,249 (GRCm39)	R6K	probably benign	Het
Zan	T	A	5: 137,401,312 (GRCm39)	T4136S	unknown	Het
Zbtb14	C	A	17: 69,695,497 (GRCm39)	F398L	probably damaging	Het
Zfp606	A	T	7: 12,227,898 (GRCm39)	H615L	probably damaging	Het
Zp3r	A	T	1: 130,510,617 (GRCm39)	N433K	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
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
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'- CACTCACATTAGGTGAAGGCTCCAG -3'
(R):5'- TGGAAGATTCCCCTGTTGCCCTTG -3'

Sequencing Primer
(F):5'- GCATGTTGTCACCATGCCAG -3'
(R):5'- CCCCATTATGTGGGTGGCAG -3'

Posted On

2014-05-09