Mutagenetix > Incidental Mutations

Incidental Mutation 'R0539:Eef2'

66942

Institutional Source

Beutler Lab

Gene Symbol

Eef2

Ensembl Gene

ENSMUSG00000034994

Gene Name

eukaryotic translation elongation factor 2

Synonyms

Ef-2

MMRRC Submission

038731-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R0539 (G1)

Quality Score

167

Status

Not validated

Chromosome

Chromosomal Location

81176631-81182498 bp(+) (GRCm38)

Type of Mutation

frame shift

DNA Base Change (assembly)

C to CN at 81178768 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000046101 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047665] [ENSMUST00000047864] [ENSMUST00000056086] [ENSMUST00000178422] [ENSMUST00000218157] [ENSMUST00000219133]

Predicted Effect

probably benign
Transcript: ENSMUST00000047665

SMART Domains

Protein: ENSMUSP00000035962
Gene: ENSMUSG00000034974

Domain	Start	End	E-Value	Type
S_TKc	13	275	1.93e-98	SMART
low complexity region	288	299	N/A	INTRINSIC
low complexity region	331	347	N/A	INTRINSIC
low complexity region	349	411	N/A	INTRINSIC
coiled coil region	419	444	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000047864

SMART Domains

Protein: ENSMUSP00000046101
Gene: ENSMUSG00000034994

Domain	Start	End	E-Value	Type
Pfam:GTP_EFTU	17	360	2e-65	PFAM
Pfam:MMR_HSR1	21	159	6.3e-6	PFAM
Pfam:GTP_EFTU_D2	409	486	2.3e-14	PFAM
Pfam:EFG_II	501	568	1.9e-14	PFAM
EFG_IV	621	737	5.56e-27	SMART
EFG_C	739	828	4.06e-20	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000056086

SMART Domains

Protein: ENSMUSP00000049685
Gene: ENSMUSG00000053603

Domain	Start	End	E-Value	Type
low complexity region	2	14	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000082507

Predicted Effect

probably benign
Transcript: ENSMUST00000178422

SMART Domains

Protein: ENSMUSP00000137333
Gene: ENSMUSG00000034974

Domain	Start	End	E-Value	Type
S_TKc	13	275	1.93e-98	SMART
low complexity region	288	299	N/A	INTRINSIC
low complexity region	331	347	N/A	INTRINSIC
low complexity region	349	411	N/A	INTRINSIC
coiled coil region	419	444	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217936

Predicted Effect

probably benign
Transcript: ENSMUST00000218157

Predicted Effect

probably benign
Transcript: ENSMUST00000219133

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219329

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219497

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219943

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220076

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

100% (107/107)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the GTP-binding translation elongation factor family. This protein is an essential factor for protein synthesis. It promotes the GTP-dependent translocation of the nascent protein chain from the A-site to the P-site of the ribosome. This protein is completely inactivated by EF-2 kinase phosporylation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a mutation removing the diphthamide modification display partial neonatal lethality, fetal growth retardation and abnormal cell physiology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730480H06Rik	T	A	5: 48,379,350	H129Q	probably damaging	Het
Abca14	G	A	7: 120,207,797	R22Q	probably damaging	Het
Abcg5	T	A	17: 84,669,075	M445L	probably benign	Het
Abhd3	T	A	18: 10,645,208	N357I	possibly damaging	Het
Adamts5	C	T	16: 85,868,692	G574S	probably damaging	Het
Adgrg5	T	A	8: 94,938,632	N389K	probably damaging	Het
Ankk1	A	G	9: 49,418,030	V80A	probably benign	Het
Arhgap20	A	G	9: 51,850,155	Q1066R	probably benign	Het
Arhgap21	T	A	2: 20,914,799	K32*	probably null	Het
AW209491	T	C	13: 14,637,732	F390S	probably damaging	Het
Axl	A	T	7: 25,778,717		probably benign	Het
Bri3bp	A	G	5: 125,454,539	Y183C	probably damaging	Het
Cad	T	C	5: 31,075,457		probably benign	Het
Capns2	A	G	8: 92,901,732	Q83R	possibly damaging	Het
Ccdc180	G	T	4: 45,922,010	R1028L	probably damaging	Het
Cdh19	C	A	1: 110,925,162	V348F	possibly damaging	Het
Chrm2	T	C	6: 36,523,706	V166A	possibly damaging	Het
Clmp	A	G	9: 40,782,486	Y333C	probably benign	Het
Cntn3	A	G	6: 102,277,217		probably null	Het
Copz1	A	G	15: 103,291,365	Y69C	probably damaging	Het
Crybg1	T	C	10: 43,998,898	D738G	probably benign	Het
Ctnna2	T	A	6: 76,973,899	I165F	probably damaging	Het
Dcaf7	T	G	11: 106,051,826	S200A	probably damaging	Het
Deup1	T	A	9: 15,582,597	R416S	possibly damaging	Het
Dmxl1	T	A	18: 49,857,430		probably benign	Het
Dnase2b	A	T	3: 146,589,155		probably benign	Het
Dst	C	T	1: 34,189,119	P1606L	probably damaging	Het
Ephb2	T	C	4: 136,655,976	Y931C	probably damaging	Het
Fam83h	T	C	15: 76,003,227	S754G	possibly damaging	Het
Fibp	T	A	19: 5,463,188	V177D	probably damaging	Het
Gfpt2	T	C	11: 49,832,898	I571T	probably damaging	Het
Grm7	T	G	6: 111,359,094		probably benign	Het
Gsdma3	A	G	11: 98,635,919	Y335C	probably damaging	Het
H2-T23	A	T	17: 36,032,141		probably benign	Het
Hist1h4c	A	G	13: 23,698,148	F101S	probably damaging	Het
Hydin	A	G	8: 110,523,072	I2216V	probably benign	Het
Ipo8	A	G	6: 148,818,108	M113T	probably benign	Het
Kdm6a	A	G	X: 18,262,425	E1045G	probably damaging	Het
Kyat1	C	T	2: 30,188,217	E117K	probably damaging	Het
Lin7b	A	G	7: 45,369,902		probably benign	Het
Lipn	G	A	19: 34,084,603		probably benign	Het
Lrfn2	C	A	17: 49,071,044	N384K	probably damaging	Het
Lrrc6	A	T	15: 66,447,606	V305D	probably damaging	Het
Map1b	T	C	13: 99,434,018	K732E	unknown	Het
Mpl	A	G	4: 118,443,508	M541T	possibly damaging	Het
Mprip	T	C	11: 59,741,117		probably benign	Het
Mrc1	T	C	2: 14,270,126		probably benign	Het
Ms4a13	T	C	19: 11,171,871		probably benign	Het
Myo18b	G	T	5: 112,723,868	R2116S	probably damaging	Het
Nav2	A	G	7: 49,461,938	T731A	probably damaging	Het
Ncoa6	G	T	2: 155,415,697	A642D	probably benign	Het
Ndufs7	T	A	10: 80,254,831		probably benign	Het
Nfkbiz	G	A	16: 55,817,879	T406M	probably benign	Het
Nr4a1	A	G	15: 101,270,884	E267G	probably damaging	Het
Nrxn2	T	G	19: 6,493,404	F1103V	probably damaging	Het
Olfr1028	G	T	2: 85,952,009	M315I	probably benign	Het
Olfr1044	A	T	2: 86,171,043	M258K	probably damaging	Het
Olfr1441	C	T	19: 12,422,809	L167F	probably damaging	Het
Olfr381	T	C	11: 73,486,063	T254A	probably benign	Het
Olfr479	C	T	7: 108,055,822	T280I	probably damaging	Het
Olfr958	A	T	9: 39,550,297	D191E	probably damaging	Het
Olfr996	T	A	2: 85,579,775	C179S	probably damaging	Het
Phf1	A	G	17: 26,934,458		probably null	Het
Pip	C	T	6: 41,849,885	Q53*	probably null	Het
Ppp2ca	T	C	11: 52,118,162		probably null	Het
Prl2c5	A	G	13: 13,189,321		probably null	Het
Psph	T	A	5: 129,766,577		probably benign	Het
Ptch1	C	T	13: 63,543,480		probably benign	Het
Ptprs	C	T	17: 56,458,255	V10M	probably damaging	Het
Rarg	T	C	15: 102,238,877	R358G	probably damaging	Het
Rbl2	T	C	8: 91,112,505		probably benign	Het
Robo2	A	T	16: 73,985,574		probably benign	Het
Scin	A	T	12: 40,081,766	D256E	possibly damaging	Het
Scn8a	T	C	15: 101,016,568	Y1152H	probably damaging	Het
Sh2b2	T	G	5: 136,225,301		probably benign	Het
Slc13a2	G	A	11: 78,399,138	P450L	probably damaging	Het
Slc2a12	A	G	10: 22,692,230	I519V	probably benign	Het
Slc30a9	C	T	5: 67,334,610	T260M	probably damaging	Het
Slc9a7	A	T	X: 20,202,762	F184Y	probably damaging	Het
Smc2	G	T	4: 52,458,558	K466N	probably benign	Het
Snx16	T	C	3: 10,426,218	E209G	probably damaging	Het
Sp3	A	T	2: 72,970,532	I423N	possibly damaging	Het
Ssh2	G	T	11: 77,454,794	V1202F	probably benign	Het
Stam2	A	T	2: 52,703,256		probably benign	Het
Stox2	T	C	8: 47,194,035	Y194C	probably damaging	Het
Sult3a1	A	G	10: 33,866,523	T49A	probably damaging	Het
Supt3	A	T	17: 45,003,131	I136F	possibly damaging	Het
Syne2	A	T	12: 76,024,121	R103S	possibly damaging	Het
Synj2	T	A	17: 5,996,888	M1K	probably null	Het
Tas2r110	T	C	6: 132,868,371	S122P	possibly damaging	Het
Tln1	A	G	4: 43,543,434		probably null	Het
Tmem117	A	G	15: 94,714,912	T110A	possibly damaging	Het
Tmem247	A	G	17: 86,917,478	D5G	probably benign	Het
Tmem39a	T	A	16: 38,590,975	F363I	probably benign	Het
Tmem80	G	A	7: 141,335,895	A73T	possibly damaging	Het
Trpm4	C	T	7: 45,305,472	G901S	probably damaging	Het
Upk3bl	T	C	5: 136,063,986		probably benign	Het
Vmn1r120	A	T	7: 21,053,472	C105S	probably damaging	Het
Vmn1r69	A	T	7: 10,580,947		probably benign	Het
Vmn2r95	T	C	17: 18,452,100	F700L	probably damaging	Het
Wdr70	G	A	15: 7,885,637	T550M	possibly damaging	Het
Zbtb22	A	G	17: 33,918,144	D421G	possibly damaging	Het
Zbtb45	G	A	7: 13,006,333	R452C	probably damaging	Het
Zfhx3	T	C	8: 108,800,509	Y1013H	probably damaging	Het
Zfp329	C	T	7: 12,806,593		probably null	Het
Zfp532	T	A	18: 65,623,766	S257T	probably benign	Het
Zfp933	G	A	4: 147,826,548	T197I	probably benign	Het
Zgrf1	T	A	3: 127,615,192	N1649K	probably damaging	Het

Other mutations in Eef2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01303:Eef2	APN	10	81181943	missense	possibly damaging	0.93
IGL01303:Eef2	APN	10	81181982	splice site	probably null
IGL01376:Eef2	APN	10	81178049	unclassified	probably benign
IGL01876:Eef2	APN	10	81180270	missense	probably benign
IGL02000:Eef2	APN	10	81180011	missense	probably benign	0.13
IGL02514:Eef2	APN	10	81179593	missense	probably benign	0.11
IGL03087:Eef2	APN	10	81181247	missense	probably benign	0.12
IGL03389:Eef2	APN	10	81179706	missense	probably benign	0.40
fig	UTSW	10	81180292	missense	possibly damaging	0.50
R0052:Eef2	UTSW	10	81178768	frame shift	probably null
R0178:Eef2	UTSW	10	81180292	missense	possibly damaging	0.50
R0445:Eef2	UTSW	10	81178770	frame shift	probably null
R0497:Eef2	UTSW	10	81181586	missense	probably benign	0.00
R0745:Eef2	UTSW	10	81181996	missense	probably benign	0.00
R0811:Eef2	UTSW	10	81178769	frame shift	probably null
R0812:Eef2	UTSW	10	81178769	frame shift	probably null
R0832:Eef2	UTSW	10	81178769	frame shift	probably null
R1136:Eef2	UTSW	10	81178769	frame shift	probably null
R1298:Eef2	UTSW	10	81178768	frame shift	probably null
R1549:Eef2	UTSW	10	81178768	frame shift	probably null
R1550:Eef2	UTSW	10	81180847	missense	probably benign	0.04
R2869:Eef2	UTSW	10	81178767	frame shift	probably null
R2870:Eef2	UTSW	10	81178767	frame shift	probably null
R2871:Eef2	UTSW	10	81178767	frame shift	probably null
R2872:Eef2	UTSW	10	81178767	frame shift	probably null
R3408:Eef2	UTSW	10	81178767	frame shift	probably null
R3414:Eef2	UTSW	10	81177858	missense	probably damaging	0.98
R4291:Eef2	UTSW	10	81179580	missense	probably benign	0.00
R4357:Eef2	UTSW	10	81178767	frame shift	probably null
R4433:Eef2	UTSW	10	81178768	frame shift	probably null
R4577:Eef2	UTSW	10	81178767	frame shift	probably null
R5154:Eef2	UTSW	10	81178767	frame shift	probably null
R5609:Eef2	UTSW	10	81178769	frame shift	probably null
R6545:Eef2	UTSW	10	81181114	missense	probably damaging	1.00
R6649:Eef2	UTSW	10	81178768	frame shift	probably null
R6650:Eef2	UTSW	10	81178768	frame shift	probably null
R7326:Eef2	UTSW	10	81181282	missense	probably benign	0.26
R7472:Eef2	UTSW	10	81179550	missense	probably benign	0.01
R7579:Eef2	UTSW	10	81178768	frame shift	probably null
R8013:Eef2	UTSW	10	81178196	missense	probably damaging	1.00
R8143:Eef2	UTSW	10	81181348	missense	probably damaging	1.00
Z1088:Eef2	UTSW	10	81181889	missense	probably damaging	1.00
Z1176:Eef2	UTSW	10	81181158	critical splice donor site	probably null

Predicted Primers

Posted On

2013-08-19