Mutagenetix > Incidental Mutation

Incidental Mutation 'R1210:Eef1b2'

100631

Institutional Source

Beutler Lab

Gene Symbol

Eef1b2

Ensembl Gene

ENSMUSG00000025967

Gene Name

eukaryotic translation elongation factor 1 beta 2

Synonyms

2810017J07Rik

MMRRC Submission

039279-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1210 (G1)

Quality Score

132

Status

Not validated

Chromosome

Chromosomal Location

63215990-63219645 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 63216432 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 21 (D21G)

Ref Sequence

ENSEMBL: ENSMUSP00000133545 (fasta)

Gene Model

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

AlphaFold

O70251

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027108
AA Change: D21G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

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

noncoding transcript
Transcript: ENSMUST00000082668

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000082678

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126469

Predicted Effect

unknown
Transcript: ENSMUST00000126795
AA Change: D17G

SMART Domains

Protein: ENSMUSP00000134341
Gene: ENSMUSG00000025967
AA Change: D17G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000129339
AA Change: D21G

PolyPhen 2 Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000116492
Gene: ENSMUSG00000025967
AA Change: D21G

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 damaging
Transcript: ENSMUST00000142062
AA Change: D21G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000188524
AA Change: D21G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000140895
Gene: ENSMUSG00000025967
AA Change: D21G

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

probably damaging
Transcript: ENSMUST00000174890
AA Change: D21G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000133545
Gene: ENSMUSG00000025967
AA Change: D21G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184516

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140612

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185827

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148553

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: 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

probably benign
Transcript: ENSMUST00000189664

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199062

Coding Region Coverage

1x: 99.1%
3x: 97.8%
10x: 93.9%
20x: 83.8%

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
Cdh15	G	C	8: 123,584,234 (GRCm39)	E112Q	probably damaging	Het
Clec7a	T	C	6: 129,442,488 (GRCm39)	I180V	probably damaging	Het
Csf3	A	G	11: 98,593,303 (GRCm39)	D140G	probably damaging	Het
Cwf19l2	T	C	9: 3,430,810 (GRCm39)	S381P	probably benign	Het
Fam83a	A	T	15: 57,858,644 (GRCm39)	Y228F	possibly damaging	Het
Gm5422	A	G	10: 31,126,719 (GRCm39)		noncoding transcript	Het
Itga5	A	G	15: 103,265,900 (GRCm39)	V149A	possibly damaging	Het
Lrrfip1	A	G	1: 91,042,915 (GRCm39)	H440R	probably benign	Het
Mfsd13a	C	T	19: 46,354,943 (GRCm39)	T40I	probably benign	Het
Mindy4	T	A	6: 55,261,798 (GRCm39)	L569H	possibly damaging	Het
Mme	A	G	3: 63,251,027 (GRCm39)	K356R	probably benign	Het
Nfkb1	A	G	3: 135,300,688 (GRCm39)	I626T	probably benign	Het
Or2f1b	T	C	6: 42,739,601 (GRCm39)	V205A	possibly damaging	Het
Or2t6	T	C	14: 14,176,029 (GRCm38)	T18A	probably benign	Het
Or4c100	G	C	2: 88,356,620 (GRCm39)	R231P	possibly damaging	Het
Or5k1b	T	C	16: 58,581,413 (GRCm39)	N42S	probably damaging	Het
Rock2	T	A	12: 17,015,470 (GRCm39)	V789D	probably damaging	Het
Sav1	A	G	12: 70,015,953 (GRCm39)	Y282H	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Vmn2r89	T	C	14: 51,692,427 (GRCm39)	F77L	probably benign	Het
Vps50	G	A	6: 3,594,884 (GRCm39)	V816I	probably damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- GGAACGGACCTTGACCTTTAACCTC -3'
(R):5'- ACTTGTCCAAAGACGCGGAAGAAC -3'

Sequencing Primer
(F):5'- GGAAACGCCTCCGTCTCTATATAAG -3'
(R):5'- ACGGAGAGCAAGCATCATC -3'

Posted On

2014-01-15