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

Essential gene?

Possibly non essential (E-score: 0.310) question?

Stock #

R5610 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120442080-120506441 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120486005 bp (GRCm39)

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
1700018F24Rik	A	G	5: 144,982,156 (GRCm39)	D247G	possibly damaging	Het
1700123K08Rik	A	G	5: 138,562,403 (GRCm39)		probably null	Het
Abca8b	C	A	11: 109,868,639 (GRCm39)	G175V	probably damaging	Het
Accsl	C	A	2: 93,692,118 (GRCm39)		probably null	Het
Adad2	C	T	8: 120,341,500 (GRCm39)	R171C	probably benign	Het
Adgrv1	A	C	13: 81,669,236 (GRCm39)	L2440R	probably damaging	Het
Antxr1	A	G	6: 87,232,845 (GRCm39)	V239A	probably damaging	Het
Aoc1l2	G	A	6: 48,907,953 (GRCm39)	V318I	probably benign	Het
Arhgap28	G	A	17: 68,203,235 (GRCm39)	Q73*	probably null	Het
Arrdc5	C	T	17: 56,604,846 (GRCm39)	R147H	probably benign	Het
Ash1l	T	C	3: 88,930,492 (GRCm39)	Y1990H	probably damaging	Het
Bank1	T	C	3: 135,772,148 (GRCm39)	E494G	probably damaging	Het
Bicral	A	T	17: 47,119,418 (GRCm39)	I701N	probably damaging	Het
Bod1l	T	C	5: 41,979,217 (GRCm39)	Y699C	probably damaging	Het
C3ar1	T	G	6: 122,827,537 (GRCm39)	T227P	probably benign	Het
Ccr3	C	A	9: 123,829,518 (GRCm39)	D284E	probably damaging	Het
Cdh13	T	C	8: 119,578,462 (GRCm39)	V163A	possibly damaging	Het
CK137956	C	T	4: 127,840,440 (GRCm39)		probably null	Het
Cltc	T	C	11: 86,612,472 (GRCm39)	S529G	probably benign	Het
Cplane2	C	T	4: 140,947,177 (GRCm39)	P186L	probably benign	Het
Ddx11	A	G	17: 66,457,021 (GRCm39)	K783E	probably damaging	Het
Dnah3	T	A	7: 119,538,288 (GRCm39)		probably null	Het
Esr1	A	G	10: 4,951,221 (GRCm39)	K533R	probably damaging	Het
Fat1	T	A	8: 45,406,109 (GRCm39)	Y953*	probably null	Het
Fosl1	T	A	19: 5,505,133 (GRCm39)		probably null	Het
Frmd4b	A	G	6: 97,283,752 (GRCm39)	M373T	probably benign	Het
Gm1968	A	G	16: 29,777,557 (GRCm39)		noncoding transcript	Het
Gpr26	T	C	7: 131,568,694 (GRCm39)	V13A	possibly damaging	Het
Gtf3c1	T	C	7: 125,303,117 (GRCm39)	N106S	possibly damaging	Het
Itgb8	T	G	12: 119,134,429 (GRCm39)	E546A	probably damaging	Het
Itpr3	C	T	17: 27,337,540 (GRCm39)	T2450M	probably benign	Het
Kif1a	A	T	1: 92,953,450 (GRCm39)	Y1245N	probably damaging	Het
Klrb1f	G	A	6: 129,031,335 (GRCm39)		probably null	Het
Lars1	A	G	18: 42,390,156 (GRCm39)	L37P	probably benign	Het
Lnpk	T	C	2: 74,378,369 (GRCm39)	T131A	probably benign	Het
Mob3c	C	T	4: 115,690,878 (GRCm39)	T156I	probably benign	Het
Nadk	T	A	4: 155,668,628 (GRCm39)	W100R	probably damaging	Het
Npy6r	A	T	18: 44,409,061 (GRCm39)	I161F	probably benign	Het
Or4c107	A	C	2: 88,789,170 (GRCm39)	D120A	probably damaging	Het
Or6c204	G	A	10: 129,022,426 (GRCm39)	T288I	probably damaging	Het
Pcdhga3	A	G	18: 37,808,276 (GRCm39)	E243G	possibly damaging	Het
Pdss2	A	G	10: 43,315,828 (GRCm39)	T361A	probably benign	Het
Pkd1l2	G	T	8: 117,769,059 (GRCm39)	Q1198K	probably benign	Het
Prdx1	T	A	4: 116,550,124 (GRCm39)	I102N	probably damaging	Het
Prss1	G	A	6: 41,438,147 (GRCm39)	V25I	probably benign	Het
Pspc1	A	G	14: 57,015,388 (GRCm39)	Y77H	probably damaging	Het
Rnf5	T	C	17: 34,820,712 (GRCm39)		probably benign	Het
Ryr1	C	A	7: 28,811,399 (GRCm39)	M235I	probably benign	Het
Sec24c	A	G	14: 20,741,893 (GRCm39)	Y776C	probably damaging	Het
Sharpin	A	G	15: 76,234,253 (GRCm39)		probably null	Het
Slc12a4	C	A	8: 106,676,845 (GRCm39)	V482L	possibly damaging	Het
Slc38a1	C	T	15: 96,514,022 (GRCm39)		probably null	Het
Smtn	G	T	11: 3,479,582 (GRCm39)	T495N	probably damaging	Het
Sncaip	A	G	18: 53,001,991 (GRCm39)	T171A	probably benign	Het
Sprr2e	T	C	3: 92,260,399 (GRCm39)	*77R	probably null	Het
Syngap1	T	A	17: 27,178,754 (GRCm39)	D443E	possibly damaging	Het
Taldo1	T	C	7: 140,972,205 (GRCm39)	V24A	probably damaging	Het
Tfap2c	T	A	2: 172,391,778 (GRCm39)	N8K	probably benign	Het
Tmem229a	T	C	6: 24,955,580 (GRCm39)	Y58C	probably damaging	Het
Tubgcp3	T	C	8: 12,689,577 (GRCm39)	Y563C	probably damaging	Het
Ubr1	T	A	2: 120,722,593 (GRCm39)	D1342V	probably benign	Het
Usp7	C	T	16: 8,534,374 (GRCm39)		probably null	Het
Wbp1	C	T	6: 83,097,216 (GRCm39)	G75D	probably damaging	Het
Zfp180	G	T	7: 23,804,315 (GRCm39)	V245F	probably benign	Het
Zfp414	C	T	17: 33,849,012 (GRCm39)	T33I	probably damaging	Het
Zfp646	T	A	7: 127,478,530 (GRCm39)	C236S	probably 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
R1986:Eef2k	UTSW	7	120,472,569 (GRCm39)	missense	possibly damaging	0.92
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
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'- CGCTTACATGACATGAATCCCC -3'
(R):5'- AATGCAGAATGATTCTCAGAGCC -3'

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

Posted On

2016-11-08