Mutagenetix > Incidental Mutation

Incidental Mutation 'R7166:Eef2k'

557938

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: 0.097) question?

Stock #

R7166 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120842831-120907450 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120884772 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 244 (F244L)

Ref Sequence

ENSEMBL: ENSMUSP00000046595 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047875] [ENSMUST00000106488] [ENSMUST00000106489] [ENSMUST00000143322] [ENSMUST00000146482]

AlphaFold

O08796

Predicted Effect

probably damaging
Transcript: ENSMUST00000047875
AA Change: F244L

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

SMART Domains

Protein: ENSMUSP00000046595
Gene: ENSMUSG00000035064
AA Change: F244L

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: F244L

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

SMART Domains

Protein: ENSMUSP00000102097
Gene: ENSMUSG00000035064
AA Change: F244L

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: F244L

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

SMART Domains

Protein: ENSMUSP00000102098
Gene: ENSMUSG00000035064
AA Change: F244L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000146482

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (52/53)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ambn	T	C	5: 88,467,528	L272P	possibly damaging	Het
Ash2l	C	A	8: 25,827,320	G335V	probably damaging	Het
Atp13a1	T	A	8: 69,799,316		probably null	Het
Atp13a2	G	A	4: 141,006,984	R1139Q	possibly damaging	Het
Atxn2	T	A	5: 121,796,397	N886K	possibly damaging	Het
Celsr3	G	T	9: 108,842,951	C2512F	probably damaging	Het
Cfap221	A	G	1: 119,948,113	V449A	probably benign	Het
Cfhr2	A	T	1: 139,831,101	C70*	probably null	Het
Chfr	C	A	5: 110,158,805	P472Q	probably benign	Het
Crybg2	G	A	4: 134,060,882	R22Q	probably damaging	Het
Efcab11	A	T	12: 99,883,355	M23K		Het
Ercc8	T	A	13: 108,169,433	M114K	possibly damaging	Het
Fam217a	T	C	13: 34,910,315	Y487C	probably benign	Het
Farsb	T	C	1: 78,471,184	N205S	probably benign	Het
Glra1	A	G	11: 55,515,078	F370S	probably benign	Het
Gm12258	T	A	11: 58,858,473	M158K		Het
Gm14305	T	A	2: 176,720,943	H209Q	probably damaging	Het
Gm4924	A	T	10: 82,378,201	Q611L	unknown	Het
Gm5580	A	G	6: 116,551,368	I69V	probably benign	Het
Haus6	T	C	4: 86,583,687	E649G	possibly damaging	Het
Hist1h4j	A	G	13: 21,735,151	H19R	unknown	Het
Hlcs	C	T	16: 94,262,726	D345N	possibly damaging	Het
Htt	C	A	5: 34,852,894	Q1564K	probably benign	Het
Itpr1	G	A	6: 108,378,190	V481I	probably benign	Het
Jak3	T	C	8: 71,682,316	I531T	probably damaging	Het
Kng1	T	A	16: 23,079,678	H609Q	probably benign	Het
Mdn1	T	A	4: 32,746,446	S4131T	probably damaging	Het
Npnt	A	G	3: 132,948,128	S31P	probably damaging	Het
Olfr1098	T	A	2: 86,922,748	K261N	probably damaging	Het
Olfr1186	A	T	2: 88,525,646	Q21L	possibly damaging	Het
Olfr398	A	T	11: 73,984,295	F104L	possibly damaging	Het
Paxx	A	T	2: 25,460,226	L123Q	probably damaging	Het
Prdm13	C	T	4: 21,683,528	R144Q	unknown	Het
Rab2b	C	A	14: 52,279,345		probably benign	Het
Rnf207	A	G	4: 152,311,780	I509T	probably damaging	Het
Ropn1l	T	C	15: 31,453,509	Q12R		Het
Ryr3	T	G	2: 112,875,028	Y847S	probably damaging	Het
Slc1a6	A	T	10: 78,812,812	T456S	possibly damaging	Het
Slc26a2	A	T	18: 61,198,829	M510K	possibly damaging	Het
Slc5a9	T	C	4: 111,883,839	T537A	probably benign	Het
Slc9b2	T	C	3: 135,326,178	Y132H	unknown	Het
Sltm	T	C	9: 70,584,850	L725S	probably damaging	Het
Spz1	A	G	13: 92,575,927	C14R	probably benign	Het
Srrm4	T	A	5: 116,471,242	Q172L	unknown	Het
Synj2bp	T	C	12: 81,504,515	D92G	probably benign	Het
Tmem169	A	C	1: 72,301,070	T220P	probably benign	Het
Ttn	T	A	2: 76,888,028	I7270F	unknown	Het
Txndc16	T	G	14: 45,183,154	N137H	probably benign	Het
Ubr5	A	G	15: 37,976,145	Y2499H		Het
Ugt2b38	T	C	5: 87,410,446	D452G	probably damaging	Het
Zfp12	T	A	5: 143,245,502	I560N	possibly damaging	Het
Zfp60	A	G	7: 27,749,512	K535R	possibly damaging	Het
Zfp960	T	A	17: 17,088,499	C492S	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
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'- CACTGACCATGGTTCCAGTTATG -3'
(R):5'- AGCCCTGGGATCACATATGTTC -3'

Sequencing Primer
(F):5'- TGTGGTCACATGGTCACACCTAG -3'
(R):5'- CTGGGATCACATATGTTCCAACGG -3'

Posted On

2019-06-26