Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00852:Eef1b2'

278025

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Eef1b2

Ensembl Gene

ENSMUSG00000025967

Gene Name

eukaryotic translation elongation factor 1 beta 2

Synonyms

2810017J07Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00852

Quality Score

Status

Chromosome

Chromosomal Location

63215990-63219645 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 63217665 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 91 (G91R)

Ref Sequence

ENSEMBL: ENSMUSP00000116492 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027108] [ENSMUST00000027111] [ENSMUST00000050536] [ENSMUST00000129339] [ENSMUST00000188524] [ENSMUST00000135877] [ENSMUST00000142062] [ENSMUST00000174890] [ENSMUST00000185412] [ENSMUST00000185732] [ENSMUST00000185847] [ENSMUST00000188370] [ENSMUST00000168099] [ENSMUST00000189664]

AlphaFold

O70251

Predicted Effect

probably benign
Transcript: ENSMUST00000027108

Predicted Effect

probably benign
Transcript: ENSMUST00000027111

SMART Domains

Protein: ENSMUSP00000027111
Gene: ENSMUSG00000025968

Domain	Start	End	E-Value	Type
Pfam:Fer2_4	29	107	8.5e-20	PFAM
Pfam:Fer2	34	97	1e-11	PFAM
NADH-G_4Fe-4S_3	113	153	6.5e-19	SMART
Pfam:Molybdopterin	301	629	1e-76	PFAM
Pfam:NADH_dhqG_C	658	710	1.5e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000050536

SMART Domains

Protein: ENSMUSP00000051417
Gene: ENSMUSG00000046856

Domain	Start	End	E-Value	Type
Pfam:7tm_1	55	302	3.9e-40	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000082668

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000082678

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126469

Predicted Effect

probably benign
Transcript: ENSMUST00000126795

SMART Domains

Protein: ENSMUSP00000134341
Gene: ENSMUSG00000025967

Domain	Start	End	E-Value	Type
SCOP:d1aw9_1	4	62	8e-5	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000129339
AA Change: G91R

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

SMART Domains

Protein: ENSMUSP00000116492
Gene: ENSMUSG00000025967
AA Change: G91R

Domain	Start	End	E-Value	Type
EF-1_beta_acid	103	130	2.53e-4	SMART
EF1_GNE	139	225	3.86e-44	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000188524
AA Change: G50R

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000140895
Gene: ENSMUSG00000025967
AA Change: G50R

Domain	Start	End	E-Value	Type
EF-1_beta_acid	62	89	1.2e-8	SMART
EF1_GNE	98	184	2.9e-48	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184516

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185827

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148553

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140612

Predicted Effect

probably benign
Transcript: ENSMUST00000135877

SMART Domains

Protein: ENSMUSP00000137671
Gene: ENSMUSG00000025967

Domain	Start	End	E-Value	Type
transmembrane domain	38	57	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000142062

Predicted Effect

probably benign
Transcript: ENSMUST00000174890

SMART Domains

Protein: ENSMUSP00000133545
Gene: ENSMUSG00000025967

Domain	Start	End	E-Value	Type
Blast:WHEP	3	64	3e-6	BLAST
SCOP:d1aw9_1	7	65	2e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000185412

SMART Domains

Protein: ENSMUSP00000140467
Gene: ENSMUSG00000025968

Domain	Start	End	E-Value	Type
Pfam:Fer2_4	29	79	5.3e-10	PFAM
Pfam:Fer2	34	79	1.4e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000185732

SMART Domains

Protein: ENSMUSP00000140307
Gene: ENSMUSG00000025968

Domain	Start	End	E-Value	Type
Pfam:Fer2_4	29	107	4.4e-18	PFAM
Pfam:Fer2	34	97	6.2e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000185847

SMART Domains

Protein: ENSMUSP00000141190
Gene: ENSMUSG00000025968

Domain	Start	End	E-Value	Type
Pfam:Molybdopterin	1	60	5.7e-5	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000188370

SMART Domains

Protein: ENSMUSP00000139664
Gene: ENSMUSG00000025968

Domain	Start	End	E-Value	Type
Pfam:Fer2_4	29	96	1.1e-13	PFAM
Pfam:Fer2	34	127	1.2e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000168099

SMART Domains

Protein: ENSMUSP00000126621
Gene: ENSMUSG00000025968

Domain	Start	End	E-Value	Type
Pfam:Fer2_4	29	107	4.3e-19	PFAM
Pfam:Fer2	34	97	1e-11	PFAM
NADH-G_4Fe-4S_3	113	153	6.5e-19	SMART
Pfam:Molybdopterin	301	629	1e-76	PFAM
Pfam:DUF1982	657	710	3.6e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199062

Predicted Effect

probably benign
Transcript: ENSMUST00000189664

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a translation elongation factor. The protein is a guanine nucleotide exchange factor involved in the transfer of aminoacylated tRNAs to the ribosome. Alternative splicing results in three transcript variants which differ only in the 5' UTR. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cfap157	T	A	2: 32,669,827 (GRCm39)	Q252L	possibly damaging	Het
Chd9	C	A	8: 91,699,835 (GRCm39)	Q622K	probably benign	Het
Crygd	C	T	1: 65,101,250 (GRCm39)	R115Q	probably benign	Het
Cypt15-ps	A	T	X: 38,435,507 (GRCm39)	R56*	probably null	Het
Dbt	G	A	3: 116,339,763 (GRCm39)	G384S	probably benign	Het
Dmxl2	A	T	9: 54,330,597 (GRCm39)	L721*	probably null	Het
Dsc2	C	T	18: 20,167,740 (GRCm39)	V718I	probably benign	Het
Epb41l1	C	T	2: 156,345,638 (GRCm39)	L214F	probably damaging	Het
Ibtk	A	C	9: 85,595,654 (GRCm39)	Y971D	probably benign	Het
Lancl1	G	A	1: 67,043,996 (GRCm39)	L335F	probably damaging	Het
Pcm1	T	C	8: 41,740,858 (GRCm39)	W1035R	probably damaging	Het
Pkn2	T	A	3: 142,515,577 (GRCm39)		probably benign	Het
Ranbp2	G	A	10: 58,313,723 (GRCm39)	R1481Q	probably benign	Het
Scn5a	T	C	9: 119,366,748 (GRCm39)	N313S	probably benign	Het
Septin10	A	G	10: 59,028,642 (GRCm39)		probably benign	Het
Serpinb6c	A	T	13: 34,081,321 (GRCm39)		probably null	Het
Slc22a19	C	T	19: 7,660,323 (GRCm39)	M362I	probably benign	Het
Spmip4	T	A	6: 50,566,164 (GRCm39)		probably null	Het
Tnni3k	T	A	3: 154,760,206 (GRCm39)	Q43L	probably benign	Het
Trpm3	T	A	19: 22,964,435 (GRCm39)	V1310D	possibly damaging	Het
Zdhhc13	T	A	7: 48,455,349 (GRCm39)	S260R	probably benign	Het

Other mutations in Eef1b2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00861:Eef1b2	APN	1	63,217,665 (GRCm39)	missense	probably damaging	1.00
IGL00862:Eef1b2	APN	1	63,217,665 (GRCm39)	missense	probably damaging	1.00
IGL00863:Eef1b2	APN	1	63,217,665 (GRCm39)	missense	probably damaging	1.00
IGL01642:Eef1b2	APN	1	63,216,990 (GRCm39)	missense	probably damaging	1.00
R1127:Eef1b2	UTSW	1	63,218,616 (GRCm39)	critical splice acceptor site	probably null
R1210:Eef1b2	UTSW	1	63,216,432 (GRCm39)	missense	probably damaging	1.00
R1909:Eef1b2	UTSW	1	63,216,431 (GRCm39)	missense	probably damaging	0.99
R2045:Eef1b2	UTSW	1	63,218,646 (GRCm39)	nonsense	probably null
R5129:Eef1b2	UTSW	1	63,218,739 (GRCm39)	missense	probably damaging	0.96
R6847:Eef1b2	UTSW	1	63,217,648 (GRCm39)	missense	probably benign	0.32
R7748:Eef1b2	UTSW	1	63,217,024 (GRCm39)	missense	probably damaging	0.99
R8819:Eef1b2	UTSW	1	63,217,268 (GRCm39)	unclassified	probably benign
R8995:Eef1b2	UTSW	1	63,217,629 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16