Mutagenetix > Incidental Mutation

Incidental Mutation 'R0811:Eef2'

262355

Institutional Source

Beutler Lab

Gene Symbol

Eef2

Ensembl Gene

ENSMUSG00000034994

Gene Name

eukaryotic translation elongation factor 2

Synonyms

Ef-2

MMRRC Submission

038991-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R0811 (G1)

Quality Score

150

Status

Not validated

Chromosome

Chromosomal Location

81012465-81018332 bp(+) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

C to CN at 81014603 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000046101 (fasta)

Gene Model

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

AlphaFold

P58252

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

noncoding transcript
Transcript: ENSMUST00000219943

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219329

Predicted Effect

probably benign
Transcript: ENSMUST00000219133

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219497

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220076

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.3%
20x: 94.3%

Validation Efficiency

100% (44/44)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	T	C	5: 8,763,229 (GRCm39)	S586P	probably damaging	Het
Ap5z1	G	A	5: 142,461,546 (GRCm39)	R583H	probably benign	Het
Arhgap28	TCAGCAGCAGCAGCAGCAGCAG	TCAGCAGCAGCAGCAGCAG	17: 68,208,294 (GRCm39)		probably benign	Het
Arrb1	G	T	7: 99,247,708 (GRCm39)	V346L	probably benign	Het
Atrnl1	T	A	19: 57,661,573 (GRCm39)	F518I	probably benign	Het
Bank1	T	A	3: 135,799,127 (GRCm39)	I405F	probably damaging	Het
Cacna1h	A	G	17: 25,607,602 (GRCm39)	L905P	probably damaging	Het
Cc2d1a	A	G	8: 84,860,465 (GRCm39)	Y826H	probably benign	Het
Cenpo	A	G	12: 4,266,643 (GRCm39)	V155A	probably benign	Het
Cnmd	A	G	14: 79,898,863 (GRCm39)	F63S	probably damaging	Het
Cnn3	G	A	3: 121,248,600 (GRCm39)	G72D	probably damaging	Het
Cox10	A	G	11: 63,962,539 (GRCm39)	S101P	probably benign	Het
Ctdsp1	T	C	1: 74,433,806 (GRCm39)	V129A	probably damaging	Het
Cyp2d34	A	T	15: 82,502,807 (GRCm39)	S140T	probably benign	Het
Dennd5a	G	A	7: 109,532,820 (GRCm39)	H317Y	possibly damaging	Het
Dnaaf9	A	G	2: 130,555,334 (GRCm39)	F858S	probably damaging	Het
Enox1	T	A	14: 77,819,876 (GRCm39)	D210E	probably damaging	Het
Fam171a1	A	G	2: 3,198,464 (GRCm39)	N190S	probably damaging	Het
Fat2	T	A	11: 55,144,459 (GRCm39)	K4138N	possibly damaging	Het
Fat4	A	T	3: 39,011,623 (GRCm39)	D2241V	probably damaging	Het
Fbn1	C	T	2: 125,245,090 (GRCm39)	V266I	possibly damaging	Het
Fras1	T	A	5: 96,900,857 (GRCm39)	S3025R	probably benign	Het
Gba1	T	C	3: 89,111,307 (GRCm39)	I24T	probably benign	Het
Gdpd5	A	G	7: 99,087,540 (GRCm39)	D68G	probably damaging	Het
Grid1	G	A	14: 34,544,576 (GRCm39)	S49N	probably benign	Het
Grtp1	T	C	8: 13,229,639 (GRCm39)	T250A	possibly damaging	Het
Gucy1b1	T	C	3: 81,945,295 (GRCm39)	N448D	probably benign	Het
Hmcn2	G	A	2: 31,310,383 (GRCm39)	A3326T	probably damaging	Het
Ippk	C	A	13: 49,596,947 (GRCm39)	Q254K	probably damaging	Het
Itga2	A	T	13: 115,007,150 (GRCm39)	L393I	possibly damaging	Het
Kcna10	A	T	3: 107,102,575 (GRCm39)	E402V	possibly damaging	Het
Kcnab1	G	A	3: 65,205,141 (GRCm39)	D119N	probably damaging	Het
Kcnip4	T	A	5: 48,567,202 (GRCm39)	T122S	probably benign	Het
Kcnma1	G	A	14: 23,350,086 (GRCm39)	P1151L	probably damaging	Het
Klhl22	T	A	16: 17,610,453 (GRCm39)	M568K	probably benign	Het
Krt6a	C	T	15: 101,601,183 (GRCm39)	V257M	probably damaging	Het
Ksr2	A	C	5: 117,693,290 (GRCm39)	H246P	probably damaging	Het
Lca5	T	C	9: 83,281,806 (GRCm39)	D326G	possibly damaging	Het
Lcp1	A	G	14: 75,451,928 (GRCm39)	E393G	probably benign	Het
Leo1	G	A	9: 75,352,831 (GRCm39)	E125K	probably benign	Het
Lipt1	T	A	1: 37,914,382 (GRCm39)	V146E	probably damaging	Het
Mael	A	T	1: 166,062,968 (GRCm39)		probably null	Het
Mga	C	T	2: 119,778,442 (GRCm39)	L1996F	probably damaging	Het
Mllt6	A	G	11: 97,569,387 (GRCm39)	N913S	probably damaging	Het
Mphosph9	A	C	5: 124,436,822 (GRCm39)	D507E	probably damaging	Het
Mvp	G	A	7: 126,586,728 (GRCm39)	A801V	probably benign	Het
Neb	T	C	2: 52,182,707 (GRCm39)	D1053G	possibly damaging	Het
Nubp1	C	A	16: 10,231,585 (GRCm39)	L79I	probably benign	Het
Or1e1f	G	A	11: 73,856,246 (GRCm39)	E271K	probably benign	Het
Or1o2	A	C	17: 37,543,223 (GRCm39)	L13V	probably benign	Het
Or8d2	G	A	9: 38,759,805 (GRCm39)	V132I	probably benign	Het
Pithd1	A	G	4: 135,704,445 (GRCm39)		probably benign	Het
Pnpla8	G	A	12: 44,330,188 (GRCm39)	V29M	probably benign	Het
Psmb2	T	A	4: 126,601,350 (GRCm39)	I151N	possibly damaging	Het
Ptgs2	C	T	1: 149,977,105 (GRCm39)	T104I	probably benign	Het
Ptpro	A	G	6: 137,345,077 (GRCm39)	T28A	probably benign	Het
Raf1	A	G	6: 115,603,671 (GRCm39)		probably null	Het
Ranbp2	T	C	10: 58,301,351 (GRCm39)	M668T	probably benign	Het
Rbm48	A	T	5: 3,641,760 (GRCm39)		probably null	Het
Rhag	A	T	17: 41,142,469 (GRCm39)	T225S	possibly damaging	Het
Rhof	A	C	5: 123,269,950 (GRCm39)	L69R	probably damaging	Het
Slc22a1	T	C	17: 12,885,505 (GRCm39)		probably benign	Het
Slc24a5	T	C	2: 124,910,724 (GRCm39)	S52P	probably damaging	Het
Slc8a2	T	C	7: 15,875,039 (GRCm39)	V429A	probably damaging	Het
Spam1	G	A	6: 24,796,886 (GRCm39)	R279H	probably damaging	Het
Spata16	T	A	3: 26,967,487 (GRCm39)		probably benign	Het
Srfbp1	A	G	18: 52,620,588 (GRCm39)	D102G	probably damaging	Het
Srrm3	A	C	5: 135,902,136 (GRCm39)		probably benign	Het
Tbl1xr1	T	A	3: 22,254,751 (GRCm39)		probably benign	Het
Tk1	T	C	11: 117,712,933 (GRCm39)	E98G	probably damaging	Het
Trim13	G	A	14: 61,843,149 (GRCm39)	V389I	probably benign	Het
Ttc28	A	T	5: 111,383,366 (GRCm39)	Y1289F	probably benign	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Ugt1a10	T	A	1: 87,983,904 (GRCm39)	V234D	probably benign	Het
Vmn2r75	C	T	7: 85,814,575 (GRCm39)	G306E	probably benign	Het
Vmn2r86	C	T	10: 130,289,497 (GRCm39)	V133I	probably benign	Het
Vps13c	C	A	9: 67,841,758 (GRCm39)	Q1927K	probably benign	Het
Zbtb14	C	A	17: 69,695,497 (GRCm39)	F398L	probably damaging	Het
Zfp219	T	A	14: 52,244,395 (GRCm39)	T550S	probably benign	Het
Zfp329	T	A	7: 12,545,395 (GRCm39)	N43I	probably benign	Het

Other mutations in Eef2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01303:Eef2	APN	10	81,017,816 (GRCm39)	splice site	probably null
IGL01303:Eef2	APN	10	81,017,777 (GRCm39)	missense	possibly damaging	0.93
IGL01376:Eef2	APN	10	81,013,883 (GRCm39)	unclassified	probably benign
IGL01876:Eef2	APN	10	81,016,104 (GRCm39)	missense	probably benign
IGL02000:Eef2	APN	10	81,015,845 (GRCm39)	missense	probably benign	0.13
IGL02514:Eef2	APN	10	81,015,427 (GRCm39)	missense	probably benign	0.11
IGL03087:Eef2	APN	10	81,017,081 (GRCm39)	missense	probably benign	0.12
IGL03389:Eef2	APN	10	81,015,540 (GRCm39)	missense	probably benign	0.40
fig	UTSW	10	81,016,126 (GRCm39)	missense	possibly damaging	0.50
R0052:Eef2	UTSW	10	81,014,602 (GRCm39)	frame shift	probably null
R0178:Eef2	UTSW	10	81,016,126 (GRCm39)	missense	possibly damaging	0.50
R0445:Eef2	UTSW	10	81,014,604 (GRCm39)	frame shift	probably null
R0497:Eef2	UTSW	10	81,017,420 (GRCm39)	missense	probably benign	0.00
R0539:Eef2	UTSW	10	81,014,602 (GRCm39)	frame shift	probably null
R0745:Eef2	UTSW	10	81,017,830 (GRCm39)	missense	probably benign	0.00
R0812:Eef2	UTSW	10	81,014,603 (GRCm39)	frame shift	probably null
R0832:Eef2	UTSW	10	81,014,603 (GRCm39)	frame shift	probably null
R1136:Eef2	UTSW	10	81,014,603 (GRCm39)	frame shift	probably null
R1298:Eef2	UTSW	10	81,014,602 (GRCm39)	frame shift	probably null
R1549:Eef2	UTSW	10	81,014,602 (GRCm39)	frame shift	probably null
R1550:Eef2	UTSW	10	81,016,681 (GRCm39)	missense	probably benign	0.04
R2869:Eef2	UTSW	10	81,014,601 (GRCm39)	frame shift	probably null
R2870:Eef2	UTSW	10	81,014,601 (GRCm39)	frame shift	probably null
R2871:Eef2	UTSW	10	81,014,601 (GRCm39)	frame shift	probably null
R2872:Eef2	UTSW	10	81,014,601 (GRCm39)	frame shift	probably null
R3408:Eef2	UTSW	10	81,014,601 (GRCm39)	frame shift	probably null
R3414:Eef2	UTSW	10	81,013,692 (GRCm39)	missense	probably damaging	0.98
R4291:Eef2	UTSW	10	81,015,414 (GRCm39)	missense	probably benign	0.00
R4357:Eef2	UTSW	10	81,014,601 (GRCm39)	frame shift	probably null
R4433:Eef2	UTSW	10	81,014,602 (GRCm39)	frame shift	probably null
R4577:Eef2	UTSW	10	81,014,601 (GRCm39)	frame shift	probably null
R5154:Eef2	UTSW	10	81,014,601 (GRCm39)	frame shift	probably null
R5609:Eef2	UTSW	10	81,014,603 (GRCm39)	frame shift	probably null
R6545:Eef2	UTSW	10	81,016,948 (GRCm39)	missense	probably damaging	1.00
R6649:Eef2	UTSW	10	81,014,602 (GRCm39)	frame shift	probably null
R6650:Eef2	UTSW	10	81,014,602 (GRCm39)	frame shift	probably null
R7326:Eef2	UTSW	10	81,017,116 (GRCm39)	missense	probably benign	0.26
R7472:Eef2	UTSW	10	81,015,384 (GRCm39)	missense	probably benign	0.01
R7579:Eef2	UTSW	10	81,014,602 (GRCm39)	frame shift	probably null
R8013:Eef2	UTSW	10	81,014,030 (GRCm39)	missense	probably damaging	1.00
R8143:Eef2	UTSW	10	81,017,182 (GRCm39)	missense	probably damaging	1.00
R8783:Eef2	UTSW	10	81,015,499 (GRCm39)	missense	probably damaging	1.00
R8949:Eef2	UTSW	10	81,014,518 (GRCm39)	missense	probably damaging	1.00
R9017:Eef2	UTSW	10	81,015,487 (GRCm39)	missense	possibly damaging	0.66
R9115:Eef2	UTSW	10	81,014,603 (GRCm39)	frame shift	probably null
R9158:Eef2	UTSW	10	81,014,693 (GRCm39)	unclassified	probably benign
R9233:Eef2	UTSW	10	81,014,668 (GRCm39)	missense	probably benign	0.26
R9435:Eef2	UTSW	10	81,014,994 (GRCm39)	missense	probably benign	0.07
R9765:Eef2	UTSW	10	81,015,010 (GRCm39)	missense	possibly damaging	0.84
Z1088:Eef2	UTSW	10	81,017,723 (GRCm39)	missense	probably damaging	1.00
Z1176:Eef2	UTSW	10	81,016,992 (GRCm39)	critical splice donor site	probably null

Predicted Primers

Posted On

2015-02-04