Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00863:Eef1b2'

278039

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 #

IGL00863

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bsn	A	G	9: 107,992,521 (GRCm39)	I1077T	probably damaging	Het
Car8	A	G	4: 8,183,251 (GRCm39)		probably null	Het
Ccdc192	A	T	18: 57,727,158 (GRCm39)	E136V	probably damaging	Het
Ccny	A	T	18: 9,345,444 (GRCm39)	D143E	probably benign	Het
Cdh19	A	G	1: 110,876,874 (GRCm39)	V155A	probably damaging	Het
Cript	T	A	17: 87,335,151 (GRCm39)	I14N	probably damaging	Het
Crygd	C	T	1: 65,101,250 (GRCm39)	R115Q	probably benign	Het
Cyria	A	T	12: 12,409,235 (GRCm39)	I72F	probably benign	Het
Fbln5	A	G	12: 101,776,175 (GRCm39)	V60A	probably damaging	Het
Fbn1	T	A	2: 125,245,139 (GRCm39)	E249D	possibly damaging	Het
G6pc1	G	T	11: 101,261,549 (GRCm39)	R83L	probably damaging	Het
Grik2	A	G	10: 49,232,024 (GRCm39)	V502A	possibly damaging	Het
Heatr1	T	C	13: 12,450,009 (GRCm39)	V2001A	probably benign	Het
Il4i1	T	A	7: 44,487,470 (GRCm39)	Y148*	probably null	Het
Jmjd4	T	C	11: 59,341,569 (GRCm39)	S113P	probably benign	Het
Nceh1	C	T	3: 27,295,462 (GRCm39)	P241L	probably damaging	Het
Pals1	A	G	12: 78,856,595 (GRCm39)	D146G	probably damaging	Het
Pcdh10	T	A	3: 45,334,737 (GRCm39)	D350E	probably damaging	Het
Pdgfrl	A	G	8: 41,438,571 (GRCm39)	E169G	probably damaging	Het
Ppm1l	T	A	3: 69,225,283 (GRCm39)	D128E	probably damaging	Het
Rasa1	A	G	13: 85,436,548 (GRCm39)	V160A	probably benign	Het
Serf2	T	C	2: 121,288,184 (GRCm39)		probably null	Het
Slitrk1	T	A	14: 109,149,269 (GRCm39)	N481Y	probably damaging	Het
Tas2r139	T	G	6: 42,118,055 (GRCm39)	S62R	probably damaging	Het
Tdpoz4	A	T	3: 93,704,380 (GRCm39)	T226S	probably benign	Het
Tvp23b	C	A	11: 62,774,464 (GRCm39)	A36E	probably damaging	Het
Upp2	G	A	2: 58,680,076 (GRCm39)	E301K	probably benign	Het

Other mutations in Eef1b2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00852:Eef1b2	APN	1	63,217,665 (GRCm39)	missense	probably damaging	1.00
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
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