Mutagenetix > Incidental Mutation

Incidental Mutation 'R5802:Eef1a1'

448792

Institutional Source

Beutler Lab

Gene Symbol

Eef1a1

Ensembl Gene

ENSMUSG00000037742

Gene Name

eukaryotic translation elongation factor 1 alpha 1

Synonyms

MMRRC Submission

043391-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R5802 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78478449-78489151 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 78479036 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 396 (S396P)

Ref Sequence

ENSEMBL: ENSMUSP00000042457 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034896] [ENSMUST00000042235] [ENSMUST00000148238] [ENSMUST00000154207] [ENSMUST00000156988]

AlphaFold

P10126

Predicted Effect

probably benign
Transcript: ENSMUST00000034896

SMART Domains

Protein: ENSMUSP00000034896
Gene: ENSMUSG00000032342

Domain	Start	End	E-Value	Type
low complexity region	11	30	N/A	INTRINSIC
Pfam:FAD_binding_2	37	84	1.3e-6	PFAM
Pfam:FAD_oxidored	37	194	2.3e-9	PFAM
Pfam:GIDA	37	435	3.5e-153	PFAM
low complexity region	518	529	N/A	INTRINSIC
GIDA_assoc_3	585	658	8.31e-26	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000042235
AA Change: S396P

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

SMART Domains

Protein: ENSMUSP00000042457
Gene: ENSMUSG00000037742
AA Change: S396P

Domain	Start	End	E-Value	Type
Pfam:GTP_EFTU	5	238	3.4e-55	PFAM
Pfam:GTP_EFTU_D2	260	327	6.3e-16	PFAM
Pfam:GTP_EFTU_D3	333	442	5e-42	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000102184

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126614

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129380

Predicted Effect

probably benign
Transcript: ENSMUST00000133002

SMART Domains

Protein: ENSMUSP00000123414
Gene: ENSMUSG00000032342

Domain	Start	End	E-Value	Type
GIDA_assoc_3	5	78	8.31e-26	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143570

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144523

Predicted Effect

probably benign
Transcript: ENSMUST00000148238

SMART Domains

Protein: ENSMUSP00000121424
Gene: ENSMUSG00000032342

Domain	Start	End	E-Value	Type
low complexity region	11	30	N/A	INTRINSIC
Pfam:FAD_binding_2	37	84	7.1e-7	PFAM
Pfam:Pyr_redox_2	37	156	2.1e-7	PFAM
Pfam:FAD_oxidored	37	178	1.1e-9	PFAM
Pfam:GIDA	37	184	8.5e-56	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150960

Predicted Effect

probably benign
Transcript: ENSMUST00000154207

SMART Domains

Protein: ENSMUSP00000120438
Gene: ENSMUSG00000037742

Domain	Start	End	E-Value	Type
Pfam:GTP_EFTU	5	238	1.2e-58	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000156988

SMART Domains

Protein: ENSMUSP00000116821
Gene: ENSMUSG00000037742

Domain	Start	End	E-Value	Type
Pfam:GTP_EFTU	5	186	1.9e-53	PFAM

Meta Mutation Damage Score

0.6597

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

97% (63/65)

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 1) is expressed in brain, placenta, lung, liver, kidney, and pancreas, and the other isoform (alpha 2) is expressed in brain, heart and skeletal muscle. This isoform is identified as an autoantigen in 66% of patients with Felty syndrome. This gene has been found to have multiple copies on many chromosomes, some of which, if not all, represent different pseudogenes. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	A	T	1: 11,950,964	D383V	probably damaging	Het
Abca4	A	T	3: 122,054,232	L67F	probably damaging	Het
Abcc9	C	A	6: 142,656,676		probably null	Het
Atp2a3	T	C	11: 72,972,882	V175A	probably damaging	Het
B3galt4	T	A	17: 33,950,757	D169V	probably damaging	Het
Bsn	C	T	9: 108,113,009	R1848Q	possibly damaging	Het
Camkk2	T	C	5: 122,734,244	E90G	probably damaging	Het
Cdon	T	A	9: 35,454,420	I155N	probably damaging	Het
Cep70	A	G	9: 99,296,405	N519D	probably damaging	Het
Clgn	T	C	8: 83,425,614	S582P	probably damaging	Het
Cnga3	T	C	1: 37,260,925	F280S	probably damaging	Het
Dennd4c	C	T	4: 86,811,453	T764M	probably benign	Het
Dis3	A	T	14: 99,099,664	S4T	probably damaging	Het
Dlgap1	T	C	17: 70,766,091		probably null	Het
Dnah17	C	T	11: 118,036,446	V3839I	possibly damaging	Het
Dnajc1	A	G	2: 18,284,739	Y286H	probably benign	Het
Dynap	T	A	18: 70,241,002	D151V	unknown	Het
Ednrb	A	G	14: 103,821,714	F292S	probably damaging	Het
Fancg	A	G	4: 43,006,582	F324S	probably benign	Het
Fbxw11	T	A	11: 32,711,790	S56T	probably benign	Het
Gm13178	T	A	4: 144,703,636	D261V	probably damaging	Het
Gm14409	T	C	2: 177,265,256	T150A	possibly damaging	Het
Gm17535	G	C	9: 3,035,758	V209L	probably benign	Homo
Gm20767	G	A	13: 120,154,913	S96N	possibly damaging	Het
Gm5592	C	T	7: 41,219,105		probably benign	Het
Gm7030	A	G	17: 36,111,287		probably benign	Het
Gpr137	C	T	19: 6,942,005	W51*	probably null	Het
Hbb-bs	T	C	7: 103,826,672	Y146C	probably damaging	Het
Herc1	G	T	9: 66,462,878	C2982F	probably damaging	Het
Hnrnpa3	T	A	2: 75,665,056	N309K	unknown	Het
Hydin	A	T	8: 110,452,060	I1096F	possibly damaging	Het
Klf12	A	G	14: 100,022,894	V133A	probably benign	Het
Lats2	A	T	14: 57,694,418	Y848N	probably damaging	Het
Loxl3	A	G	6: 83,049,289	T453A	possibly damaging	Het
Ltn1	T	G	16: 87,415,681	H664P	probably benign	Het
Lypd6	C	T	2: 50,173,601	T40I	probably benign	Het
Nbeal1	A	T	1: 60,272,221	T1817S	probably benign	Het
Nub1	A	C	5: 24,702,441	Y350S	possibly damaging	Het
Pbp2	A	G	6: 135,309,876	Y158H	possibly damaging	Het
Ptpru	C	T	4: 131,788,377	E827K	possibly damaging	Het
Rap1a	A	G	3: 105,745,936	Y32H	probably damaging	Het
Raph1	T	C	1: 60,488,673	N1143S	possibly damaging	Het
Rbl1	T	C	2: 157,161,433	T859A	probably benign	Het
Rom1	A	G	19: 8,928,824	L117P	probably damaging	Het
Senp6	T	C	9: 80,118,644		probably benign	Het
Sirpb1c	T	C	3: 15,832,076	M379V	probably benign	Het
Slc6a4	C	T	11: 77,019,236	T439M	probably damaging	Het
Srsf12	G	T	4: 33,230,929	R141L	probably damaging	Het
Stk10	C	T	11: 32,596,748	P335L	probably benign	Het
Tecpr1	A	T	5: 144,206,546	N670K	probably benign	Het
Tgds	T	C	14: 118,132,707	E8G	probably benign	Het
Tmem129	A	G	5: 33,657,716	S38P	probably damaging	Het
Trappc9	T	C	15: 72,685,339	E812G	probably damaging	Het
Trmt10b	T	A	4: 45,314,236		probably benign	Het
Wapl	A	G	14: 34,692,320	T380A	probably damaging	Het
Xylt1	A	T	7: 117,656,691	T829S	probably benign	Het
Zc3h6	C	T	2: 129,015,559	P666L	possibly damaging	Het
Zfp703	C	T	8: 26,979,205	P299L	probably damaging	Het

Other mutations in Eef1a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02105:Eef1a1	APN	9	78480551	missense	probably benign	0.03
R1395:Eef1a1	UTSW	9	78479018	missense	probably benign	0.00
R8161:Eef1a1	UTSW	9	78480390	missense	probably benign	0.01
R9621:Eef1a1	UTSW	9	78479350	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- AACTGTCTGCCTCATGTCACG -3'
(R):5'- AGGCAAGACTTAAATACACGCTG -3'

Sequencing Primer
(F):5'- GTCTGCCTCATGTCACGAACAG -3'
(R):5'- AATACACGCTGTTTTTCTTAGGTG -3'

Posted On

2016-12-15