Mutagenetix > Incidental Mutation

Incidental Mutation 'R1127:Eef1b2'

96249

Institutional Source

Beutler Lab

Gene Symbol

Eef1b2

Ensembl Gene

ENSMUSG00000025967

Gene Name

eukaryotic translation elongation factor 1 beta 2

Synonyms

2810017J07Rik

MMRRC Submission

039200-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1127 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

63215990-63219645 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

G to A at 63218616 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000140895 (fasta)

Gene Model

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

SMART Domains

Protein: ENSMUSP00000116492
Gene: ENSMUSG00000025967

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 null
Transcript: ENSMUST00000129339

SMART Domains

Protein: ENSMUSP00000116492
Gene: ENSMUSG00000025967

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 null
Transcript: ENSMUST00000129339

SMART Domains

Protein: ENSMUSP00000116492
Gene: ENSMUSG00000025967

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: ENSMUST00000135877

SMART Domains

Protein: ENSMUSP00000137671
Gene: ENSMUSG00000025967

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

Predicted Effect

probably null
Transcript: ENSMUST00000188524

SMART Domains

Protein: ENSMUSP00000140895
Gene: ENSMUSG00000025967

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 null
Transcript: ENSMUST00000188524

SMART Domains

Protein: ENSMUSP00000140895
Gene: ENSMUSG00000025967

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 null
Transcript: ENSMUST00000188524

SMART Domains

Protein: ENSMUSP00000140895
Gene: ENSMUSG00000025967

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: ENSMUST00000148553

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184516

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140612

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185827

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: 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: 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: 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

1x: 98.7%
3x: 97.5%
10x: 93.1%
20x: 80.6%

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700088E04Rik	T	C	15: 79,019,403 (GRCm39)	D179G	probably benign	Het
Aadacl2fm2	G	A	3: 59,659,314 (GRCm39)	E256K	probably benign	Het
Adh7	C	T	3: 137,927,490 (GRCm39)	A12V	probably benign	Het
Ankhd1	T	A	18: 36,767,399 (GRCm39)	N1179K	probably damaging	Het
Ankrd50	T	C	3: 38,511,336 (GRCm39)	T344A	probably benign	Het
Aplf	T	C	6: 87,623,273 (GRCm39)	T269A	probably benign	Het
Cavin4	T	C	4: 48,663,637 (GRCm39)	S6P	probably damaging	Het
Ces2g	T	C	8: 105,694,094 (GRCm39)		probably null	Het
Cyp2c66	A	T	19: 39,151,812 (GRCm39)	N176Y	probably damaging	Het
Dnah3	T	A	7: 119,522,253 (GRCm39)	D3980V	probably damaging	Het
Drc7	G	T	8: 95,799,416 (GRCm39)	E530D	probably damaging	Het
Dst	A	G	1: 34,314,358 (GRCm39)	T6434A	probably damaging	Het
Dtx3l	A	G	16: 35,759,127 (GRCm39)	S41P	possibly damaging	Het
Eml3	C	T	19: 8,913,672 (GRCm39)	T43I	probably damaging	Het
Fam110b	T	A	4: 5,799,434 (GRCm39)	L284Q	probably damaging	Het
Gpr33	A	C	12: 52,070,252 (GRCm39)	H262Q	probably damaging	Het
Igfals	T	G	17: 25,099,455 (GRCm39)	L182R	probably damaging	Het
Lamc1	A	G	1: 153,126,205 (GRCm39)	F496L	possibly damaging	Het
Muc4	T	A	16: 32,569,343 (GRCm39)	H134Q	possibly damaging	Het
Nckap1	C	T	2: 80,348,286 (GRCm39)	S889N	probably benign	Het
Nxn	A	T	11: 76,164,895 (GRCm39)	C205*	probably null	Het
Oga	G	A	19: 45,740,594 (GRCm39)	R914*	probably null	Het
Or11l3	T	C	11: 58,516,284 (GRCm39)	E196G	probably damaging	Het
Or52h9	C	A	7: 104,202,293 (GRCm39)	H56N	possibly damaging	Het
Pamr1	A	T	2: 102,469,698 (GRCm39)	I415F	possibly damaging	Het
Ppp4r4	G	A	12: 103,545,327 (GRCm39)	G200E	probably damaging	Het
Pramel29	G	A	4: 143,933,694 (GRCm39)	T471I	probably damaging	Het
Prdm16	C	A	4: 154,613,256 (GRCm39)	S57I	probably damaging	Het
Psmd11	A	G	11: 80,362,410 (GRCm39)	K157R	possibly damaging	Het
Ptprn2	G	A	12: 117,175,628 (GRCm39)		probably null	Het
Pus7	G	A	5: 23,973,793 (GRCm39)	H234Y	probably benign	Het
Rd3l	A	G	12: 111,946,717 (GRCm39)	Y20H	probably benign	Het
Stk31	A	G	6: 49,386,141 (GRCm39)	D160G	probably damaging	Het
Sycp2	C	T	2: 178,016,159 (GRCm39)	E768K	possibly damaging	Het
Tango6	T	C	8: 107,415,527 (GRCm39)	V116A	probably benign	Het
Ttn	C	T	2: 76,697,574 (GRCm39)		probably benign	Het
Vmn2r114	ATTT	ATT	17: 23,509,906 (GRCm39)		probably null	Het
Xylb	T	C	9: 119,212,443 (GRCm39)	I427T	probably damaging	Het
Zc3h7a	T	G	16: 10,956,939 (GRCm39)	D890A	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
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

Predicted Primers

PCR Primer
(F):5'- TCTTCCATCCTACTAGACGTGAAGCC -3'
(R):5'- GTCATCTCAGCAGCCCAAGATTCAG -3'

Sequencing Primer
(F):5'- CTAGACGTGAAGCCTTGGGATG -3'
(R):5'- GAGCCAAGGGTTATCTTTCAAGC -3'

Posted On

2014-01-05