Mutagenetix > Incidental Mutation

Incidental Mutation 'R1986:Eef2k'

220651

Institutional Source

Beutler Lab

Gene Symbol

Eef2k

Ensembl Gene

ENSMUSG00000035064

Gene Name

eukaryotic elongation factor-2 kinase

Synonyms

eEF-2K

MMRRC Submission

039998-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.229) question?

Stock #

R1986 (G1)

Quality Score

218

Status

Not validated

Chromosome

Chromosomal Location

120442080-120506441 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 120472569 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 94 (M94K)

Ref Sequence

ENSEMBL: ENSMUSP00000115486 (fasta)

Gene Model

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

AlphaFold

O08796

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047875
AA Change: M94K

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000046595
Gene: ENSMUSG00000035064
AA Change: M94K

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

possibly damaging
Transcript: ENSMUST00000106488
AA Change: M94K

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000102097
Gene: ENSMUSG00000035064
AA Change: M94K

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

possibly damaging
Transcript: ENSMUST00000106489
AA Change: M94K

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000102098
Gene: ENSMUSG00000035064
AA Change: M94K

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

noncoding transcript
Transcript: ENSMUST00000125828

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141810

Predicted Effect

possibly damaging
Transcript: ENSMUST00000143322
AA Change: M94K

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000115486
Gene: ENSMUSG00000035064
AA Change: M94K

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.7%

Validation Efficiency

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	G	3: 124,212,977 (GRCm39)	S105P	probably damaging	Het
9930111J21Rik2	T	A	11: 48,910,119 (GRCm39)	K771N	possibly damaging	Het
Abcc2	A	G	19: 43,818,318 (GRCm39)	E1268G	probably damaging	Het
Adamts4	T	C	1: 171,084,244 (GRCm39)	F574L	possibly damaging	Het
Adamts9	A	G	6: 92,773,375 (GRCm39)	V1165A	probably benign	Het
Agap2	A	T	10: 126,918,913 (GRCm39)	K430*	probably null	Het
Amn	G	T	12: 111,241,431 (GRCm39)	G232V	probably damaging	Het
Ank3	A	G	10: 69,703,258 (GRCm39)	E297G	probably damaging	Het
Arhgap45	T	C	10: 79,856,530 (GRCm39)	L26P	probably damaging	Het
Atp10b	C	A	11: 43,063,595 (GRCm39)	Q177K	probably benign	Het
Bbs10	A	T	10: 111,135,118 (GRCm39)	D77V	probably damaging	Het
Bltp2	A	T	11: 78,165,438 (GRCm39)	H1318L	probably damaging	Het
Bpifa1	T	A	2: 153,986,256 (GRCm39)	L127Q	probably damaging	Het
Brinp2	T	C	1: 158,074,348 (GRCm39)	N591S	probably damaging	Het
C2cd2	A	C	16: 97,671,471 (GRCm39)	V476G	probably damaging	Het
C7	T	A	15: 5,041,494 (GRCm39)	T471S	possibly damaging	Het
Cacna1b	A	T	2: 24,538,998 (GRCm39)	Y1488N	probably damaging	Het
Cadps2	A	G	6: 23,323,379 (GRCm39)	F1001L	probably damaging	Het
Ccdc188	T	C	16: 18,036,707 (GRCm39)	S216P	probably damaging	Het
Ccdc24	A	G	4: 117,729,213 (GRCm39)	L88P	probably damaging	Het
Dab1	T	C	4: 104,470,412 (GRCm39)	I65T	probably damaging	Het
Dock4	A	T	12: 40,780,062 (GRCm39)	D621V	probably damaging	Het
Drd5	A	T	5: 38,477,456 (GRCm39)	M150L	probably damaging	Het
Epg5	A	G	18: 78,025,521 (GRCm39)		probably null	Het
Epsti1	T	C	14: 78,169,673 (GRCm39)		probably null	Het
Ern2	T	A	7: 121,770,752 (GRCm39)	D754V	probably benign	Het
Fbxo6	A	G	4: 148,230,552 (GRCm39)	Y237H	probably damaging	Het
Fbxw24	A	G	9: 109,436,124 (GRCm39)	S303P	probably damaging	Het
Fpr-rs3	A	T	17: 20,844,103 (GRCm39)		probably null	Het
Gab1	G	T	8: 81,493,010 (GRCm39)	T679K	probably damaging	Het
Gbp9	C	A	5: 105,253,590 (GRCm39)	V42F	probably damaging	Het
Gbp9	A	T	5: 105,253,652 (GRCm39)	V21E	probably damaging	Het
Gm20821	A	G	Y: 9,783,927 (GRCm39)	Q183R	probably benign	Het
Gpatch11	A	T	17: 79,151,266 (GRCm39)	I226F	probably benign	Het
Hephl1	T	G	9: 14,965,848 (GRCm39)	E1035A	probably damaging	Het
Hspa4l	T	C	3: 40,714,833 (GRCm39)	V156A	probably damaging	Het
Ifna13	A	G	4: 88,562,588 (GRCm39)	V12A	probably benign	Het
Il24	G	A	1: 130,810,268 (GRCm39)	T196I	probably benign	Het
Irgm2	A	G	11: 58,110,384 (GRCm39)	D37G	probably benign	Het
Irs1	A	G	1: 82,266,486 (GRCm39)	S577P	probably damaging	Het
Kif21b	G	A	1: 136,075,284 (GRCm39)	D166N	probably damaging	Het
Krtap4-16	T	C	11: 99,742,322 (GRCm39)	Q26R	unknown	Het
Lig1	T	A	7: 13,043,067 (GRCm39)	Y837*	probably null	Het
Lrrc69	T	C	4: 14,708,669 (GRCm39)	E225G	possibly damaging	Het
Map3k20	C	T	2: 72,271,638 (GRCm39)	Q589*	probably null	Het
Masp1	T	G	16: 23,302,211 (GRCm39)	M347L	probably benign	Het
Mgat3	A	T	15: 80,096,390 (GRCm39)	I406F	probably benign	Het
Mmp1b	T	G	9: 7,368,577 (GRCm39)	D425A	probably benign	Het
Mss51	T	C	14: 20,533,259 (GRCm39)	H404R	probably benign	Het
Myo15b	A	T	11: 115,773,701 (GRCm39)	H1911L	probably benign	Het
Nedd4l	A	G	18: 65,276,874 (GRCm39)	D102G	probably damaging	Het
Niban3	T	A	8: 72,056,404 (GRCm39)	I368N	possibly damaging	Het
Npc2	T	C	12: 84,807,523 (GRCm39)	K112E	probably benign	Het
Nuggc	T	A	14: 65,879,370 (GRCm39)	V694E	probably damaging	Het
Olfm1	T	G	2: 28,104,718 (GRCm39)	V157G	probably benign	Het
Or10h28	T	C	17: 33,488,489 (GRCm39)	S264P	probably benign	Het
Or5p55	T	C	7: 107,566,877 (GRCm39)	V91A	probably benign	Het
Otogl	T	A	10: 107,630,051 (GRCm39)		probably null	Het
Ovgp1	G	A	3: 105,882,251 (GRCm39)	C38Y	probably damaging	Het
Pisd	A	T	5: 32,894,672 (GRCm39)	S344T	probably damaging	Het
Psme4	T	C	11: 30,780,352 (GRCm39)	V840A	probably benign	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Rims2	T	A	15: 39,208,710 (GRCm39)	M171K	probably damaging	Het
Rin2	T	A	2: 145,720,860 (GRCm39)	M731K	probably damaging	Het
Scgb1b19	T	C	7: 32,987,108 (GRCm39)		probably null	Het
Serpina10	A	G	12: 103,594,514 (GRCm39)	I235T	possibly damaging	Het
Setbp1	T	A	18: 78,901,759 (GRCm39)	E636V	probably damaging	Het
Sh3d21	C	T	4: 126,056,290 (GRCm39)	E101K	probably damaging	Het
Ski	T	G	4: 155,306,148 (GRCm39)	D225A	probably damaging	Het
Slc28a2b	A	G	2: 122,357,910 (GRCm39)	T655A	probably benign	Het
Slc29a3	T	C	10: 60,559,593 (GRCm39)	Y187C	probably damaging	Het
Sort1	T	A	3: 108,253,043 (GRCm39)	D494E	possibly damaging	Het
Sphkap	A	T	1: 83,255,643 (GRCm39)	L702Q	probably damaging	Het
Srr	A	G	11: 74,799,545 (GRCm39)	I285T	probably damaging	Het
Stam2	T	C	2: 52,599,638 (GRCm39)	T257A	possibly damaging	Het
Suds3	A	T	5: 117,246,417 (GRCm39)	N112K	probably damaging	Het
Tedc2	T	A	17: 24,435,291 (GRCm39)	E366V	probably damaging	Het
Tedc2	C	A	17: 24,435,292 (GRCm39)	E366*	probably null	Het
Tesk2	T	C	4: 116,608,390 (GRCm39)	L104P	probably damaging	Het
Tie1	C	T	4: 118,336,160 (GRCm39)	R702H	probably benign	Het
Tpo	G	T	12: 30,169,465 (GRCm39)	A90E	probably damaging	Het
Trim30a	T	C	7: 104,060,672 (GRCm39)	D368G	probably damaging	Het
Ugt2a2	A	T	5: 87,608,438 (GRCm39)	M633K	possibly damaging	Het
Vars2	A	G	17: 35,970,953 (GRCm39)	W626R	probably damaging	Het
Vmn2r10	A	T	5: 109,154,120 (GRCm39)	Y61*	probably null	Het
Vmn2r95	T	C	17: 18,671,805 (GRCm39)	V514A	probably benign	Het
Vwa5a	T	G	9: 38,649,110 (GRCm39)		probably benign	Het
Zfp365	A	T	10: 67,745,686 (GRCm39)	C31S	probably damaging	Het
Zfp397	A	T	18: 24,093,108 (GRCm39)	I198F	possibly damaging	Het
Zfp407	C	T	18: 84,577,898 (GRCm39)	A1072T	probably benign	Het
Zfp593	T	C	4: 133,972,206 (GRCm39)	E100G	possibly damaging	Het

Other mutations in Eef2k

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01323:Eef2k	APN	7	120,484,038 (GRCm39)	unclassified	probably benign
IGL01481:Eef2k	APN	7	120,494,441 (GRCm39)	missense	probably benign	0.23
IGL01935:Eef2k	APN	7	120,485,054 (GRCm39)	missense	probably damaging	1.00
IGL03109:Eef2k	APN	7	120,490,949 (GRCm39)	missense	probably damaging	1.00
R0458:Eef2k	UTSW	7	120,502,513 (GRCm39)	missense	probably damaging	0.99
R1639:Eef2k	UTSW	7	120,485,051 (GRCm39)	missense	probably damaging	1.00
R3419:Eef2k	UTSW	7	120,485,093 (GRCm39)	missense	probably damaging	0.99
R3610:Eef2k	UTSW	7	120,488,458 (GRCm39)	missense	probably benign
R3707:Eef2k	UTSW	7	120,483,935 (GRCm39)	missense	probably damaging	1.00
R3856:Eef2k	UTSW	7	120,498,594 (GRCm39)	nonsense	probably null
R4024:Eef2k	UTSW	7	120,457,821 (GRCm39)	missense	probably benign	0.01
R4535:Eef2k	UTSW	7	120,457,822 (GRCm39)	nonsense	probably null
R4885:Eef2k	UTSW	7	120,491,155 (GRCm39)	missense	probably benign
R5137:Eef2k	UTSW	7	120,484,646 (GRCm39)	missense	probably damaging	1.00
R5137:Eef2k	UTSW	7	120,484,645 (GRCm39)	missense	probably damaging	0.99
R5501:Eef2k	UTSW	7	120,488,471 (GRCm39)	missense	probably benign	0.00
R5610:Eef2k	UTSW	7	120,486,005 (GRCm39)	missense	probably benign	0.00
R5633:Eef2k	UTSW	7	120,472,513 (GRCm39)	intron	probably benign
R7002:Eef2k	UTSW	7	120,491,155 (GRCm39)	missense	probably benign
R7166:Eef2k	UTSW	7	120,483,995 (GRCm39)	missense	probably damaging	1.00
R7254:Eef2k	UTSW	7	120,488,488 (GRCm39)	missense	probably benign	0.11
R7466:Eef2k	UTSW	7	120,502,707 (GRCm39)	splice site	probably null
R7486:Eef2k	UTSW	7	120,457,793 (GRCm39)	missense	probably benign
R7538:Eef2k	UTSW	7	120,491,215 (GRCm39)	missense	probably benign	0.29
R7593:Eef2k	UTSW	7	120,488,491 (GRCm39)	critical splice donor site	probably null
R7675:Eef2k	UTSW	7	120,457,727 (GRCm39)	missense	probably benign
R7815:Eef2k	UTSW	7	120,457,793 (GRCm39)	missense	probably benign
R7898:Eef2k	UTSW	7	120,494,441 (GRCm39)	missense	probably damaging	1.00
R8182:Eef2k	UTSW	7	120,472,626 (GRCm39)	missense	probably damaging	1.00
R8288:Eef2k	UTSW	7	120,502,604 (GRCm39)	missense	probably damaging	1.00
R8495:Eef2k	UTSW	7	120,487,103 (GRCm39)	missense	probably benign	0.00
R8807:Eef2k	UTSW	7	120,490,930 (GRCm39)	missense	possibly damaging	0.69
R8881:Eef2k	UTSW	7	120,472,548 (GRCm39)	missense	probably damaging	1.00
R8949:Eef2k	UTSW	7	120,491,211 (GRCm39)	missense	probably damaging	0.99
R9044:Eef2k	UTSW	7	120,479,584 (GRCm39)	missense	probably damaging	1.00
R9074:Eef2k	UTSW	7	120,491,124 (GRCm39)	missense	probably damaging	1.00
R9332:Eef2k	UTSW	7	120,483,918 (GRCm39)	missense	probably benign	0.00
R9445:Eef2k	UTSW	7	120,457,694 (GRCm39)	missense	probably benign
R9605:Eef2k	UTSW	7	120,491,170 (GRCm39)	missense	probably damaging	1.00
R9777:Eef2k	UTSW	7	120,499,453 (GRCm39)	critical splice acceptor site	probably benign
Z1177:Eef2k	UTSW	7	120,457,676 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- GGCTAAGCCTGTGAGAACAC -3'
(R):5'- CAGGCTGTAAGAATCTGAAATTGG -3'

Sequencing Primer
(F):5'- TGAGAACACACTGGGCCC -3'
(R):5'- CTGTAAGAATCTGAAATTGGGGTGC -3'

Posted On

2014-08-25