Mutagenetix > Incidental Mutation

Incidental Mutation 'R1639:Eef2k'

173373

Institutional Source

Beutler Lab

Gene Symbol

Eef2k

Ensembl Gene

ENSMUSG00000035064

Gene Name

eukaryotic elongation factor-2 kinase

Synonyms

eEF-2K

MMRRC Submission

039675-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

R1639 (G1)

Quality Score

162

Status

Validated

Chromosome

Chromosomal Location

120842831-120907450 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 120885828 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 306 (L306H)

Ref Sequence

ENSEMBL: ENSMUSP00000102098 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047875] [ENSMUST00000106488] [ENSMUST00000106489] [ENSMUST00000146482]

AlphaFold

O08796

Predicted Effect

probably damaging
Transcript: ENSMUST00000047875
AA Change: L306H

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

SMART Domains

Protein: ENSMUSP00000046595
Gene: ENSMUSG00000035064
AA Change: L306H

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: L306H

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

SMART Domains

Protein: ENSMUSP00000102097
Gene: ENSMUSG00000035064
AA Change: L306H

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: L306H

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

SMART Domains

Protein: ENSMUSP00000102098
Gene: ENSMUSG00000035064
AA Change: L306H

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: ENSMUST00000146482

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207651

Meta Mutation Damage Score

0.6665

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 89.7%

Validation Efficiency

96% (66/69)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933417A18Rik	T	C	13: 34,944,250	I150T	possibly damaging	Het
Acss2	C	A	2: 155,556,908	T425N	probably benign	Het
Adam18	T	A	8: 24,652,152	I203L	probably benign	Het
Amigo2	A	G	15: 97,245,998	M181T	probably benign	Het
Anks1	T	A	17: 28,058,306	I1045N	probably damaging	Het
Ap3d1	C	T	10: 80,730,010	V108I	probably damaging	Het
Arl8a	C	T	1: 135,152,823	R57*	probably null	Het
Atp12a	A	T	14: 56,384,068	D720V	possibly damaging	Het
Brpf3	T	C	17: 28,824,068		probably null	Het
C2	T	C	17: 34,872,403	K95E	probably benign	Het
Cdk19	T	C	10: 40,476,969		probably null	Het
Cebpz	T	A	17: 78,934,606	I540L	possibly damaging	Het
Cep128	A	G	12: 91,366,368	V41A	probably damaging	Het
Cog7	T	C	7: 121,981,419	E56G	probably damaging	Het
Cylc2	T	C	4: 51,228,310	V127A	probably benign	Het
Cyp2b23	A	G	7: 26,686,417	V5A	possibly damaging	Het
Cyp8b1	A	G	9: 121,914,890	Y459H	probably benign	Het
Dbpht2	A	G	12: 74,299,158		noncoding transcript	Het
Ddx24	T	C	12: 103,411,319		probably null	Het
Dgki	C	T	6: 36,937,364	C757Y	probably damaging	Het
Ephb2	T	C	4: 136,693,905	N378S	probably benign	Het
Espl1	C	T	15: 102,320,714	T1767I	probably damaging	Het
Fbn2	C	A	18: 58,058,462	A1530S	probably benign	Het
Fndc11	A	G	2: 181,221,581	S60G	possibly damaging	Het
Glb1l	G	T	1: 75,199,601	Q612K	probably benign	Het
Gpsm1	A	G	2: 26,345,187	E371G	probably damaging	Het
Gtpbp2	G	A	17: 46,165,771		probably null	Het
Itch	A	G	2: 155,179,025		probably null	Het
Itga2	T	C	13: 114,857,296	T774A	probably benign	Het
Kit	A	G	5: 75,652,807	I881V	probably damaging	Het
Lpar5	T	C	6: 125,081,601	L95P	probably damaging	Het
Lrp6	T	C	6: 134,453,566	T1511A	possibly damaging	Het
Mgat4c	T	C	10: 102,378,281	Y42H	probably damaging	Het
Mpp3	G	T	11: 102,023,442	T109K	probably damaging	Het
Msantd4	A	G	9: 4,385,199	E308G	probably damaging	Het
Mug1	T	C	6: 121,880,571	S1085P	probably damaging	Het
Myo5b	A	G	18: 74,707,916	H956R	probably benign	Het
Ncoa7	A	C	10: 30,701,992	L132R	probably damaging	Het
Ndufc1	T	C	3: 51,408,243	T25A	probably benign	Het
Olfr1254	T	C	2: 89,789,245	T36A	probably damaging	Het
Pkhd1l1	G	A	15: 44,540,955	V2327M	probably damaging	Het
Ppp1r9b	T	C	11: 94,996,610	Y59H	probably damaging	Het
Sema4c	A	T	1: 36,553,534	F152I	probably benign	Het
Slit2	A	T	5: 48,259,654	Y1016F	probably damaging	Het
Spata31d1c	T	A	13: 65,036,039	V465D	probably benign	Het
Ssc5d	T	C	7: 4,928,417	C208R	probably damaging	Het
Stambpl1	T	G	19: 34,236,307	V312G	probably benign	Het
Stim1	T	A	7: 102,354,541	D60E	probably benign	Het
Syt13	T	A	2: 92,945,971	V201D	probably benign	Het
Tcaim	G	A	9: 122,818,773		probably null	Het
Tex15	T	C	8: 33,570,817	S366P	possibly damaging	Het
Tpte	G	A	8: 22,320,897	R190H	probably benign	Het
Vmn1r4	T	C	6: 56,957,075	V188A	probably damaging	Het
Vmn2r88	A	G	14: 51,416,787	D542G	probably damaging	Het
Vps33b	T	A	7: 80,284,353	I257N	probably damaging	Het
Wwox	G	T	8: 114,445,378	G71*	probably null	Het
Zc3h11a	G	T	1: 133,624,708	Q554K	probably benign	Het
Zfp947	T	C	17: 22,146,093	K200R	probably benign	Het
Zscan12	T	A	13: 21,368,986	C327S	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
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
R9044:Eef2k	UTSW	7	120880361	missense	probably damaging	1.00
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'- TTGGCTTGCCTGATCCATGACC -3'
(R):5'- ACACACGCATGTTCCCTGTCAC -3'

Sequencing Primer
(F):5'- GATCCATGACCCCCTTCTG -3'
(R):5'- CCTCACTCTGGTCATAAATAGGC -3'

Posted On

2014-04-24