Mutagenetix > Incidental Mutation

Incidental Mutation 'R5610:Eef2k'

440302

Institutional Source

Beutler Lab

Gene Symbol

Eef2k

Ensembl Gene

ENSMUSG00000035064

Gene Name

eukaryotic elongation factor-2 kinase

Synonyms

eEF-2K

Accession Numbers

Is this an essential gene?

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

Stock #

R5610 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120842831-120907450 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120886782 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 408 (H408R)

Ref Sequence

ENSEMBL: ENSMUSP00000102098 (fasta)

Gene Model

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

AlphaFold

O08796

Predicted Effect

probably benign
Transcript: ENSMUST00000047875
AA Change: H408R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000046595
Gene: ENSMUSG00000035064
AA Change: H408R

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 benign
Transcript: ENSMUST00000106488
AA Change: H408R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000102097
Gene: ENSMUSG00000035064
AA Change: H408R

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: ENSMUST00000106489
AA Change: H408R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000102098
Gene: ENSMUSG00000035064
AA Change: H408R

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600015I10Rik	G	A	6: 48,931,019	V318I	probably benign	Het
1700018F24Rik	A	G	5: 145,045,346	D247G	possibly damaging	Het
1700123K08Rik	A	G	5: 138,564,141		probably null	Het
Abca8b	C	A	11: 109,977,813	G175V	probably damaging	Het
Accsl	C	A	2: 93,861,773		probably null	Het
Adad2	C	T	8: 119,614,761	R171C	probably benign	Het
Adgrv1	A	C	13: 81,521,117	L2440R	probably damaging	Het
Antxr1	A	G	6: 87,255,863	V239A	probably damaging	Het
Arhgap28	G	A	17: 67,896,240	Q73*	probably null	Het
Arrdc5	C	T	17: 56,297,846	R147H	probably benign	Het
Ash1l	T	C	3: 89,023,185	Y1990H	probably damaging	Het
Bank1	T	C	3: 136,066,387	E494G	probably damaging	Het
Bicral	A	T	17: 46,808,492	I701N	probably damaging	Het
Bod1l	T	C	5: 41,821,874	Y699C	probably damaging	Het
C3ar1	T	G	6: 122,850,578	T227P	probably benign	Het
Ccr3	C	A	9: 124,029,481	D284E	probably damaging	Het
Cdh13	T	C	8: 118,851,723	V163A	possibly damaging	Het
CK137956	C	T	4: 127,946,647		probably null	Het
Cltc	T	C	11: 86,721,646	S529G	probably benign	Het
Ddx11	A	G	17: 66,150,026	K783E	probably damaging	Het
Dnah3	T	A	7: 119,939,065		probably null	Het
Esr1	A	G	10: 5,001,221	K533R	probably damaging	Het
Fat1	T	A	8: 44,953,072	Y953*	probably null	Het
Fosl1	T	A	19: 5,455,105		probably null	Het
Frmd4b	A	G	6: 97,306,791	M373T	probably benign	Het
Gm1968	A	G	16: 29,958,739		noncoding transcript	Het
Gpr26	T	C	7: 131,966,965	V13A	possibly damaging	Het
Gtf3c1	T	C	7: 125,703,945	N106S	possibly damaging	Het
Itgb8	T	G	12: 119,170,694	E546A	probably damaging	Het
Itpr3	C	T	17: 27,118,566	T2450M	probably benign	Het
Kif1a	A	T	1: 93,025,728	Y1245N	probably damaging	Het
Klrb1f	G	A	6: 129,054,372		probably null	Het
Lars	A	G	18: 42,257,091	L37P	probably benign	Het
Lnpk	T	C	2: 74,548,025	T131A	probably benign	Het
Mob3c	C	T	4: 115,833,681	T156I	probably benign	Het
Nadk	T	A	4: 155,584,171	W100R	probably damaging	Het
Npy6r	A	T	18: 44,275,994	I161F	probably benign	Het
Olfr1212	A	C	2: 88,958,826	D120A	probably damaging	Het
Olfr773	G	A	10: 129,186,557	T288I	probably damaging	Het
Pcdhga3	A	G	18: 37,675,223	E243G	possibly damaging	Het
Pdss2	A	G	10: 43,439,832	T361A	probably benign	Het
Pkd1l2	G	T	8: 117,042,320	Q1198K	probably benign	Het
Prdx1	T	A	4: 116,692,927	I102N	probably damaging	Het
Prss1	G	A	6: 41,461,213	V25I	probably benign	Het
Pspc1	A	G	14: 56,777,931	Y77H	probably damaging	Het
Rnf5	T	C	17: 34,601,738		probably benign	Het
Rsg1	C	T	4: 141,219,866	P186L	probably benign	Het
Ryr1	C	A	7: 29,111,974	M235I	probably benign	Het
Sec24c	A	G	14: 20,691,825	Y776C	probably damaging	Het
Sharpin	A	G	15: 76,350,053		probably null	Het
Slc12a4	C	A	8: 105,950,213	V482L	possibly damaging	Het
Slc38a1	C	T	15: 96,616,141		probably null	Het
Smtn	G	T	11: 3,529,582	T495N	probably damaging	Het
Sncaip	A	G	18: 52,868,919	T171A	probably benign	Het
Sprr2e	T	C	3: 92,353,092	*77R	probably null	Het
Syngap1	T	A	17: 26,959,780	D443E	possibly damaging	Het
Taldo1	T	C	7: 141,392,292	V24A	probably damaging	Het
Tfap2c	T	A	2: 172,549,858	N8K	probably benign	Het
Tmem229a	T	C	6: 24,955,581	Y58C	probably damaging	Het
Tubgcp3	T	C	8: 12,639,577	Y563C	probably damaging	Het
Ubr1	T	A	2: 120,892,112	D1342V	probably benign	Het
Usp7	C	T	16: 8,716,510		probably null	Het
Wbp1	C	T	6: 83,120,235	G75D	probably damaging	Het
Zfp180	G	T	7: 24,104,890	V245F	probably benign	Het
Zfp414	C	T	17: 33,630,038	T33I	probably damaging	Het
Zfp646	T	A	7: 127,879,358	C236S	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
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'- CGCTTACATGACATGAATCCCC -3'
(R):5'- AATGCAGAATGATTCTCAGAGCC -3'

Sequencing Primer
(F):5'- TACATGACATGAATCCCCCATTAATG -3'
(R):5'- TGATTCTCAGAGCCAACCATG -3'

Posted On

2016-11-08