Mutagenetix > Incidental Mutation

Incidental Mutation 'R8013:Eef2'

617005

Institutional Source

Beutler Lab

Gene Symbol

Eef2

Ensembl Gene

ENSMUSG00000034994

Gene Name

eukaryotic translation elongation factor 2

Synonyms

Ef-2

MMRRC Submission

067453-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R8013 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

81012465-81018332 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 81014030 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 121 (V121D)

Ref Sequence

ENSEMBL: ENSMUSP00000046101 (fasta)

Gene Model

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

AlphaFold

P58252

Predicted Effect

probably damaging
Transcript: ENSMUST00000047864
AA Change: V121D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000046101
Gene: ENSMUSG00000034994
AA Change: V121D

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

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030458C11Rik	C	A	15: 12,824,615 (GRCm39)	D7Y	probably benign	Het
Ahnak	A	G	19: 8,986,699 (GRCm39)	D2661G	unknown	Het
Akap13	G	A	7: 75,380,213 (GRCm39)	R462H	probably damaging	Het
Apob	T	A	12: 8,060,798 (GRCm39)	N3093K	possibly damaging	Het
Baz2a	C	T	10: 127,961,157 (GRCm39)	R1627C	probably benign	Het
Baz2a	T	G	10: 127,961,161 (GRCm39)	V1628G	possibly damaging	Het
Bbs7	A	T	3: 36,648,536 (GRCm39)	I404K	probably damaging	Het
Cacna1g	T	C	11: 94,347,796 (GRCm39)	Y764C	probably damaging	Het
Casr	G	A	16: 36,330,006 (GRCm39)	L443F	probably benign	Het
Cfap43	T	A	19: 47,761,548 (GRCm39)	I849F	probably damaging	Het
Cntn3	A	T	6: 102,176,278 (GRCm39)	H812Q	probably benign	Het
Cog1	A	G	11: 113,546,990 (GRCm39)	D528G	probably damaging	Het
Depdc5	C	T	5: 33,131,186 (GRCm39)	T1229M	probably benign	Het
Dis3	T	A	14: 99,314,835 (GRCm39)	R954W	possibly damaging	Het
Disp2	T	A	2: 118,620,163 (GRCm39)	Y298*	probably null	Het
Dnai3	T	C	3: 145,787,040 (GRCm39)	T332A	probably damaging	Het
Dock2	A	C	11: 34,596,677 (GRCm39)	I393S	probably damaging	Het
Dtd1	A	G	2: 144,459,252 (GRCm39)	D92G	probably damaging	Het
Eml1	T	A	12: 108,487,938 (GRCm39)	I550N	probably benign	Het
Entpd7	A	G	19: 43,716,494 (GRCm39)	D496G	probably benign	Het
Ets2	T	A	16: 95,517,144 (GRCm39)	L292Q	probably damaging	Het
Ext1	T	C	15: 52,939,283 (GRCm39)	I589V	possibly damaging	Het
Fam20a	T	A	11: 109,576,332 (GRCm39)	E142D	possibly damaging	Het
Farp1	T	A	14: 121,479,813 (GRCm39)	I368N	probably damaging	Het
Fars2	C	T	13: 36,389,068 (GRCm39)	Q186*	probably null	Het
Fbn2	T	C	18: 58,237,153 (GRCm39)	T617A	possibly damaging	Het
Fbxo38	T	C	18: 62,663,882 (GRCm39)	E203G	possibly damaging	Het
Fcgbpl1	G	A	7: 27,836,966 (GRCm39)	R295H	probably benign	Het
Fhdc1	A	T	3: 84,381,946 (GRCm39)	M1K	probably null	Het
Gatad1	T	C	5: 3,693,540 (GRCm39)	R210G	probably benign	Het
Gm28363	A	G	1: 117,654,534 (GRCm39)	R58G	probably benign	Het
Gm8356	A	T	14: 17,692,450 (GRCm39)	N58K	probably damaging	Het
Grsf1	A	G	5: 88,823,615 (GRCm39)		probably null	Het
Hephl1	T	A	9: 14,965,905 (GRCm39)	D1016V	possibly damaging	Het
Hrob	A	G	11: 102,148,725 (GRCm39)	N379D	probably benign	Het
Kcnma1	T	A	14: 23,423,211 (GRCm39)	I831F	probably benign	Het
Krt78	T	C	15: 101,856,977 (GRCm39)	R377G	probably damaging	Het
Lama2	T	C	10: 27,220,494 (GRCm39)	H457R	probably benign	Het
Lmnb1	T	A	18: 56,841,431 (GRCm39)	Y83N	probably damaging	Het
Loxl4	A	G	19: 42,596,115 (GRCm39)	C113R	probably damaging	Het
Lrba	A	T	3: 86,325,278 (GRCm39)	D1912V	probably damaging	Het
Macf1	T	A	4: 123,420,619 (GRCm39)	T212S	probably benign	Het
Map3k4	A	T	17: 12,489,918 (GRCm39)	C504*	probably null	Het
Map4k4	T	C	1: 40,001,372 (GRCm39)	I53T	unknown	Het
Mtcl2	A	G	2: 156,872,706 (GRCm39)		probably null	Het
Myo5b	C	T	18: 74,893,970 (GRCm39)	Q1700*	probably null	Het
Npas2	T	C	1: 39,377,146 (GRCm39)	F503L	probably benign	Het
Nrg1	A	T	8: 32,439,951 (GRCm39)	S149T	probably benign	Het
Or13c7	T	A	4: 43,854,958 (GRCm39)	F216L	probably benign	Het
Or2ag15	C	T	7: 106,340,824 (GRCm39)	V106I	probably benign	Het
Or4a71	A	G	2: 89,358,280 (GRCm39)	V158A	probably benign	Het
Or9r7	T	A	10: 129,962,647 (GRCm39)	K93M	probably damaging	Het
Pdia6	T	C	12: 17,323,966 (GRCm39)	L66S	probably damaging	Het
Prss35	T	C	9: 86,637,478 (GRCm39)	S83P	probably damaging	Het
Psme4	G	A	11: 30,754,320 (GRCm39)	M192I	probably benign	Het
Ptprs	A	C	17: 56,742,994 (GRCm39)	S383A	probably damaging	Het
Resf1	T	G	6: 149,230,368 (GRCm39)	V1138G	probably damaging	Het
Sar1b	C	T	11: 51,670,621 (GRCm39)	P55L	possibly damaging	Het
Sgsh	A	G	11: 119,243,521 (GRCm39)	V67A	probably damaging	Het
Slc16a4	A	G	3: 107,218,794 (GRCm39)	Y465C	probably damaging	Het
Stard9	T	C	2: 120,518,582 (GRCm39)	I502T	probably damaging	Het
Sugp2	T	A	8: 70,704,292 (GRCm39)	Y610N	probably damaging	Het
Tbc1d24	G	A	17: 24,401,795 (GRCm39)	P385S	possibly damaging	Het
Tm4sf1	T	C	3: 57,200,319 (GRCm39)	I99V	probably benign	Het
Tpr	G	T	1: 150,274,359 (GRCm39)	V163L	probably benign	Het
Usp31	T	C	7: 121,248,480 (GRCm39)	S988G	probably damaging	Het
Zbtb26	T	A	2: 37,327,013 (GRCm39)		probably null	Het
Zfp536	T	C	7: 37,269,035 (GRCm39)	N127S	probably damaging	Het
Zfp750	T	A	11: 121,403,843 (GRCm39)	D344V	possibly damaging	Het
Zmym5	T	A	14: 57,031,883 (GRCm39)	K408N	possibly damaging	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
R0811:Eef2	UTSW	10	81,014,603 (GRCm39)	frame shift	probably null
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
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

PCR Primer
(F):5'- TGGTCAGATGCTGAATGGAC -3'
(R):5'- GTGGACTTCACAATCTCCCTG -3'

Sequencing Primer
(F):5'- CAGATGCTGAATGGACTGTTGACC -3'
(R):5'- CATGGGGACTGGCACATACAATTTC -3'

Posted On

2020-01-23