Mutagenetix > Incidental Mutation

Incidental Mutation 'R9044:Eef2k'

687919

Institutional Source

Beutler Lab

Gene Symbol

Eef2k

Ensembl Gene

ENSMUSG00000035064

Gene Name

eukaryotic elongation factor-2 kinase

Synonyms

eEF-2K

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

R9044 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120842831-120907450 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 120880361 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 167 (V167E)

Ref Sequence

ENSEMBL: ENSMUSP00000046595 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047875] [ENSMUST00000106488] [ENSMUST00000106489] [ENSMUST00000143322]

AlphaFold

O08796

Predicted Effect

probably damaging
Transcript: ENSMUST00000047875
AA Change: V167E

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

SMART Domains

Protein: ENSMUSP00000046595
Gene: ENSMUSG00000035064
AA Change: V167E

Domain	Start	End	E-Value	Type
Blast:Alpha_kinase	5	81	2e-12	BLAST
Alpha_kinase	120	317	7.75e-109	SMART
low complexity region	358	376	N/A	INTRINSIC
Pfam:Sel1	525	562	7.2e-5	PFAM
Pfam:Sel1	564	608	2.9e-3	PFAM
Pfam:Sel1	609	645	1.3e-1	PFAM
Pfam:Sel1	665	699	1.2e-2	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000106488
AA Change: V167E

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

SMART Domains

Protein: ENSMUSP00000102097
Gene: ENSMUSG00000035064
AA Change: V167E

Domain	Start	End	E-Value	Type
Blast:Alpha_kinase	5	81	2e-12	BLAST
Alpha_kinase	120	317	7.75e-109	SMART
low complexity region	358	376	N/A	INTRINSIC
Pfam:Sel1	522	562	1.1e-3	PFAM
Pfam:Sel1	564	608	3.9e-3	PFAM
Pfam:Sel1	609	645	4.8e-2	PFAM
Pfam:Sel1	664	699	4.6e-3	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000106489
AA Change: V167E

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

SMART Domains

Protein: ENSMUSP00000102098
Gene: ENSMUSG00000035064
AA Change: V167E

Domain	Start	End	E-Value	Type
Blast:Alpha_kinase	5	81	2e-12	BLAST
Alpha_kinase	120	317	7.75e-109	SMART
low complexity region	358	376	N/A	INTRINSIC
Pfam:Sel1	522	562	1.1e-3	PFAM
Pfam:Sel1	564	608	3.9e-3	PFAM
Pfam:Sel1	609	645	4.8e-2	PFAM
Pfam:Sel1	664	699	4.6e-3	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000143322

SMART Domains

Protein: ENSMUSP00000115486
Gene: ENSMUSG00000035064

Domain	Start	End	E-Value	Type
Blast:Alpha_kinase	5	81	6e-15	BLAST
Blast:Alpha_kinase	120	160	1e-21	BLAST
SCOP:d1ia9a_	129	160	3e-7	SMART

Meta Mutation Damage Score

0.9615

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.1%

Validation Efficiency

95% (62/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a highly conserved protein kinase in the calmodulin-mediated signaling pathway that links activation of cell surface receptors to cell division. This kinase is involved in the regulation of protein synthesis. It phosphorylates eukaryotic elongation factor 2 (EEF2) and thus inhibits the EEF2 function. The activity of this kinase is increased in many cancers and may be a valid target for anti-cancer treatment. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired regulation of ovarian follicular degeneration and apoptosis, prolonged estrus, and increased ovarian follicle numbers in aged females. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	A	T	10: 79,066,480	Y667*	probably null	Het
5830411N06Rik	G	T	7: 140,248,097	G73C	probably damaging	Het
Acacb	A	G	5: 114,235,517	H1869R	probably benign	Het
Adgrb1	A	G	15: 74,569,899	T950A	possibly damaging	Het
Alms1	T	A	6: 85,696,753	L3110Q	probably damaging	Het
Ambra1	A	T	2: 91,910,089		probably benign	Het
Brpf3	A	T	17: 28,806,897	N315Y	possibly damaging	Het
Cpne7	C	T	8: 123,130,212	P402L	probably damaging	Het
Cyba	T	A	8: 122,424,891	D189V	probably benign	Het
Dexi	A	G	16: 10,503,521		probably benign	Het
Dnah2	C	T	11: 69,529,421	V156I	probably benign	Het
Drc7	T	C	8: 95,070,449	V420A	probably damaging	Het
Efcab1	A	G	16: 14,920,397	D142G	probably damaging	Het
Eid2	T	C	7: 28,268,613	I220T	possibly damaging	Het
Fggy	A	C	4: 95,844,097	T442P	probably benign	Het
Foxi3	T	G	6: 70,956,699	S57A	probably benign	Het
Foxi3	T	A	6: 70,957,202		probably null	Het
Galntl5	C	T	5: 25,210,328	P286S	possibly damaging	Het
Gm5592	A	G	7: 41,288,850	K519E	probably benign	Het
Gse1	T	A	8: 120,230,530	S587T	unknown	Het
Kcns1	G	T	2: 164,168,076	F254L	probably damaging	Het
Kif15	A	G	9: 123,011,716	T23A	probably benign	Het
Kif16b	T	C	2: 142,699,657	Q1241R	possibly damaging	Het
Lck	A	T	4: 129,556,305	L205Q	probably damaging	Het
Map9	C	T	3: 82,380,218	A420V	possibly damaging	Het
Mdm2	A	T	10: 117,695,055	D170E		Het
Mllt6	T	A	11: 97,663,659	C30S	probably damaging	Het
Muc5b	T	G	7: 141,858,058	D1580E	unknown	Het
Oaf	C	T	9: 43,224,011	A157T	probably damaging	Het
Olfr136	A	T	17: 38,335,429	T91S	possibly damaging	Het
Olfr324	T	A	11: 58,598,300	N295K	possibly damaging	Het
Olfr525	A	G	7: 140,322,572		probably benign	Het
Osbp2	T	C	11: 3,717,128	I8V	probably damaging	Het
Pcdh9	T	C	14: 93,886,811	Y641C	probably damaging	Het
Phf10	A	T	17: 14,946,322	C429S	probably damaging	Het
Plekha6	C	G	1: 133,273,949	P367A	probably benign	Het
Plekha6	C	A	1: 133,273,950	P367Q	possibly damaging	Het
Plod2	T	A	9: 92,607,220	I756K	probably damaging	Het
Plxnb2	C	A	15: 89,160,363		probably benign	Het
Pop1	T	A	15: 34,530,408	M1014K	possibly damaging	Het
Prrt4	T	C	6: 29,171,541	D304G	probably benign	Het
Rcan2	C	A	17: 43,836,354	L28I	probably benign	Het
Rffl	C	T	11: 82,810,194	V269I	probably benign	Het
Rhox3c	C	T	X: 37,469,650		probably benign	Het
Ric1	C	T	19: 29,599,894	A1066V	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904		probably benign	Het
Ryr2	A	T	13: 11,738,103	Y1777*	probably null	Het
Sh3tc1	T	G	5: 35,697,490	K1288Q	possibly damaging	Het
Slc10a5	A	C	3: 10,334,732	I289M	probably damaging	Het
Slc16a9	A	G	10: 70,274,967	T128A	probably benign	Het
Slc7a11	T	C	3: 50,379,183	H373R	probably benign	Het
Spesp1	A	G	9: 62,273,341	I95T	probably benign	Het
Sra1	C	T	18: 36,667,893	V131I	probably benign	Het
Stxbp5l	A	G	16: 37,204,568	V556A	possibly damaging	Het
Sycp2	T	C	2: 178,347,824	E1414G	probably damaging	Het
Trac	A	T	14: 54,220,691	K57*	probably null	Het
Trps1	T	C	15: 50,822,607	E724G	probably benign	Het
Tubgcp6	T	G	15: 89,103,194	D1192A	possibly damaging	Het
Usp48	G	A	4: 137,613,685	G332E	probably benign	Het
Vps18	T	G	2: 119,297,553	I952M	probably damaging	Het
Wdr36	T	C	18: 32,837,446	F20S	probably damaging	Het
Wdr62	C	A	7: 30,262,637	R450L	probably benign	Het
Xab2	T	C	8: 3,618,641	K76E	probably benign	Het
Zpr1	A	G	9: 46,279,697	D300G	probably damaging	Het

Other mutations in Eef2k

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01323:Eef2k	APN	7	120884815	unclassified	probably benign
IGL01481:Eef2k	APN	7	120895218	missense	probably benign	0.23
IGL01935:Eef2k	APN	7	120885831	missense	probably damaging	1.00
IGL03109:Eef2k	APN	7	120891726	missense	probably damaging	1.00
R0458:Eef2k	UTSW	7	120903290	missense	probably damaging	0.99
R1639:Eef2k	UTSW	7	120885828	missense	probably damaging	1.00
R1986:Eef2k	UTSW	7	120873346	missense	possibly damaging	0.92
R3419:Eef2k	UTSW	7	120885870	missense	probably damaging	0.99
R3610:Eef2k	UTSW	7	120889235	missense	probably benign
R3707:Eef2k	UTSW	7	120884712	missense	probably damaging	1.00
R3856:Eef2k	UTSW	7	120899371	nonsense	probably null
R4024:Eef2k	UTSW	7	120858598	missense	probably benign	0.01
R4535:Eef2k	UTSW	7	120858599	nonsense	probably null
R4885:Eef2k	UTSW	7	120891932	missense	probably benign
R5137:Eef2k	UTSW	7	120885422	missense	probably damaging	0.99
R5137:Eef2k	UTSW	7	120885423	missense	probably damaging	1.00
R5501:Eef2k	UTSW	7	120889248	missense	probably benign	0.00
R5610:Eef2k	UTSW	7	120886782	missense	probably benign	0.00
R5633:Eef2k	UTSW	7	120873290	intron	probably benign
R7002:Eef2k	UTSW	7	120891932	missense	probably benign
R7166:Eef2k	UTSW	7	120884772	missense	probably damaging	1.00
R7254:Eef2k	UTSW	7	120889265	missense	probably benign	0.11
R7466:Eef2k	UTSW	7	120903484	splice site	probably null
R7486:Eef2k	UTSW	7	120858570	missense	probably benign
R7538:Eef2k	UTSW	7	120891992	missense	probably benign	0.29
R7593:Eef2k	UTSW	7	120889268	critical splice donor site	probably null
R7675:Eef2k	UTSW	7	120858504	missense	probably benign
R7815:Eef2k	UTSW	7	120858570	missense	probably benign
R7898:Eef2k	UTSW	7	120895218	missense	probably damaging	1.00
R8182:Eef2k	UTSW	7	120873403	missense	probably damaging	1.00
R8288:Eef2k	UTSW	7	120903381	missense	probably damaging	1.00
R8495:Eef2k	UTSW	7	120887880	missense	probably benign	0.00
R8807:Eef2k	UTSW	7	120891707	missense	possibly damaging	0.69
R8881:Eef2k	UTSW	7	120873325	missense	probably damaging	1.00
R8949:Eef2k	UTSW	7	120891988	missense	probably damaging	0.99
R9074:Eef2k	UTSW	7	120891901	missense	probably damaging	1.00
R9332:Eef2k	UTSW	7	120884695	missense	probably benign	0.00
R9445:Eef2k	UTSW	7	120858471	missense	probably benign
R9605:Eef2k	UTSW	7	120891947	missense	probably damaging	1.00
R9777:Eef2k	UTSW	7	120900230	critical splice acceptor site	probably benign
Z1177:Eef2k	UTSW	7	120858453	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- ACAGACACTGGTCCTTCCC -3'
(R):5'- CTGTGTTTCACCCTGGTGGC -3'

Sequencing Primer
(F):5'- CCTCTGACTCTGGGTGGAG -3'
(R):5'- CACCCTGGTGGCTGGCC -3'

Posted On

2021-11-19