Mutagenetix > Incidental Mutation

Incidental Mutation 'R9332:Eef2k'

706922

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 #

R9332 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

120842831-120907450 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120884695 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 218 (D218G)

Ref Sequence

ENSEMBL: ENSMUSP00000046595 (fasta)

Gene Model

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

AlphaFold

O08796

Predicted Effect

probably benign
Transcript: ENSMUST00000047875
AA Change: D218G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000046595
Gene: ENSMUSG00000035064
AA Change: D218G

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: D218G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000102097
Gene: ENSMUSG00000035064
AA Change: D218G

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: D218G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000102098
Gene: ENSMUSG00000035064
AA Change: D218G

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: 99.9%
10x: 99.7%
20x: 99.0%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	G	A	3: 37,050,840	D1485N		Het
Ankrd55	T	G	13: 112,323,143	D90E	probably damaging	Het
Arid1b	C	A	17: 4,995,309	P124Q	unknown	Het
Atxn2	C	T	5: 121,785,362	P698L	probably damaging	Het
B020004J07Rik	C	T	4: 101,837,947	V56M	probably damaging	Het
Bend7	T	C	2: 4,752,720	V191A	probably benign	Het
C2cd4a	T	G	9: 67,831,497	H88P	probably damaging	Het
Cacna1s	C	T	1: 136,092,714	Q830*	probably null	Het
Camta1	T	C	4: 151,144,017	E786G	possibly damaging	Het
Caprin1	A	G	2: 103,773,045	S443P	probably benign	Het
Cass4	T	G	2: 172,427,886	F629L	probably benign	Het
Ccdc149	T	A	5: 52,405,057	D209V	probably damaging	Het
Ccdc150	T	C	1: 54,277,751	V263A	probably damaging	Het
Cfc1	C	T	1: 34,537,372	R145C	probably damaging	Het
Cnn1	C	A	9: 22,108,054	D239E	probably damaging	Het
Cobll1	C	T	2: 65,103,172	S493N	probably benign	Het
Cox20	A	T	1: 178,319,206	K13*	probably null	Het
Dclk1	G	A	3: 55,463,079	S340N	probably damaging	Het
Dennd2c	T	A	3: 103,131,561	D8E	probably benign	Het
Dnajc10	A	T	2: 80,344,983	K571N	probably benign	Het
Dock7	T	A	4: 99,008,043	I58F		Het
Dpy19l4	A	G	4: 11,304,298		probably null	Het
Eya4	G	T	10: 23,113,946	T504K	probably damaging	Het
Fam222a	T	C	5: 114,611,337	I198T	probably damaging	Het
Fbxw10	T	A	11: 62,857,759	F404Y	probably benign	Het
Fbxw24	A	T	9: 109,623,613	Y105N	probably damaging	Het
Fzd10	T	G	5: 128,601,252	L12R	possibly damaging	Het
Gm14443	A	G	2: 175,175,817		probably benign	Het
Gm21028	A	T	7: 42,578,480	C37S	probably damaging	Het
Gpr179	G	T	11: 97,338,725	A868E	probably damaging	Het
Greb1l	T	A	18: 10,532,796	Y897N	possibly damaging	Het
Grid1	A	T	14: 35,323,403	Y401F	probably benign	Het
Heatr5a	G	A	12: 51,899,285	T1181I	probably benign	Het
Herc4	G	A	10: 63,308,346	V753I	probably damaging	Het
Htra1	A	T	7: 130,962,121	K241*	probably null	Het
Kat6b	A	G	14: 21,670,025	I1482V	probably benign	Het
Kif19a	G	T	11: 114,789,207	R790L	possibly damaging	Het
Lmf2	G	A	15: 89,355,374	L26F	probably damaging	Het
Lpcat1	T	C	13: 73,511,343	L408S	probably damaging	Het
Lrrc69	T	A	4: 14,774,987	R94W	probably damaging	Het
Map4	A	G	9: 110,035,155	T483A	probably benign	Het
Mettl3	C	A	14: 52,296,668	C483F	probably damaging	Het
Myh13	A	G	11: 67,363,283	D1543G	possibly damaging	Het
Myh2	G	A	11: 67,179,383	V414I	probably damaging	Het
Myh7b	C	T	2: 155,628,802	R1057C	probably damaging	Het
Myo9b	A	G	8: 71,359,602	S2006G	probably benign	Het
Nelfcd	A	G	2: 174,423,185	K239R	probably benign	Het
Nlrp4a	T	C	7: 26,459,652	S786P	probably damaging	Het
Olfr1000	T	A	2: 85,607,987	K308*	probably null	Het
Olfr775	A	G	10: 129,251,103	T190A	probably damaging	Het
Pdzrn4	G	T	15: 92,397,335	V141L	probably benign	Het
Phip	G	T	9: 82,875,359	R1587S	probably damaging	Het
Plce1	A	G	19: 38,737,933	E1448G	probably damaging	Het
Plrg1	T	C	3: 83,069,001	S326P	possibly damaging	Het
Pom121l2	T	A	13: 21,981,682	V41E	probably damaging	Het
Preb	G	T	5: 30,956,329	S311*	probably null	Het
Prss33	T	A	17: 23,834,749	D118V	probably damaging	Het
Pum1	C	A	4: 130,771,898	Y1008*	probably null	Het
Rassf2	G	A	2: 132,004,406	R144C	probably damaging	Het
Rnf123	A	T	9: 108,067,505	M429K	probably benign	Het
Rtl1	T	A	12: 109,590,857	H1516L	probably benign	Het
Scyl3	T	A	1: 163,936,438	N124K	probably damaging	Het
Sec24b	A	G	3: 130,007,571	S488P	probably benign	Het
Shc4	T	A	2: 125,678,698	D277V	probably damaging	Het
Sorl1	T	A	9: 42,001,518	D1389V	probably damaging	Het
Srcap	T	A	7: 127,559,640	I2896N	unknown	Het
Steap3	T	A	1: 120,227,834	Y465F	probably benign	Het
Tecta	C	A	9: 42,372,897	C964F	probably damaging	Het
Thap1	AGCAGCATCTGCTCG	AG	8: 26,160,854		probably null	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,160,856		probably null	Het
Tmem178b	G	A	6: 40,004,247	W72*	probably null	Het
Tmem235	T	G	11: 117,860,839	Y30D	probably damaging	Het
Tpst1	C	A	5: 130,134,460	T366K	probably benign	Het
Trdv2-1	C	A	14: 53,946,391	P27T	probably benign	Het
Trim37	G	T	11: 87,167,502	L335F	possibly damaging	Het
Usp9y	G	A	Y: 1,341,873	R1331W	probably damaging	Het
Vmn1r1	T	G	1: 182,157,437	H221P	probably damaging	Het
Vmn2r6	A	T	3: 64,547,250	S543T	probably benign	Het
Wdpcp	C	T	11: 21,711,522	P265S	probably benign	Het
Wdr64	T	C	1: 175,772,305	L566P	possibly damaging	Het
Zfp248	A	G	6: 118,428,930	I566T	possibly damaging	Het
Zfp595	T	A	13: 67,317,399	I270F	probably damaging	Het
Zfp715	A	G	7: 43,299,423	L371P	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
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
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'- ACTGCACTGACCATGGTTCC -3'
(R):5'- CTTTGAGGATGTGAGGCTCCAC -3'

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

Posted On

2022-04-18