Mutagenetix > Incidental Mutation

Incidental Mutation 'R9445:Eef2k'

713881

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 #

R9445 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

120842831-120907450 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120858471 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 18 (C18R)

Ref Sequence

ENSEMBL: ENSMUSP00000046595 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047875] [ENSMUST00000106488] [ENSMUST00000106489] [ENSMUST00000143279] [ENSMUST00000143322]

AlphaFold

O08796

Predicted Effect

probably benign
Transcript: ENSMUST00000047875
AA Change: C18R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000046595
Gene: ENSMUSG00000035064
AA Change: C18R

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: C18R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000102097
Gene: ENSMUSG00000035064
AA Change: C18R

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: C18R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000102098
Gene: ENSMUSG00000035064
AA Change: C18R

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: ENSMUST00000143279
AA Change: C18R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000143322
AA Change: C18R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000115486
Gene: ENSMUSG00000035064
AA Change: C18R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700024B05Rik	T	A	14: 41,996,217	H23Q	possibly damaging	Het
Abca14	T	C	7: 120,278,468	S1069P	probably benign	Het
Abo	A	G	2: 26,843,708	W160R	probably damaging	Het
Ahnak2	T	C	12: 112,781,355	Q1624R		Het
Amy2a1	T	A	3: 113,531,675	N90I	possibly damaging	Het
Bod1l	C	T	5: 41,817,276	V2232I	probably benign	Het
Brsk2	T	A	7: 141,984,412	H98Q	probably damaging	Het
Caskin2	C	T	11: 115,803,750	V342I	probably damaging	Het
Ccdc13	T	C	9: 121,798,090	N707S	probably benign	Het
Cdv3	T	C	9: 103,364,041	E109G	probably damaging	Het
Coro2a	C	T	4: 46,540,558	E454K	probably benign	Het
Cpq	A	T	15: 33,213,245	I137F	possibly damaging	Het
Ctsj	G	A	13: 61,004,024	T73I	possibly damaging	Het
Dchs2	A	G	3: 83,238,977	D710G	probably damaging	Het
Drd4	T	C	7: 141,292,249	V71A	probably damaging	Het
Ercc4	C	A	16: 13,127,610	D386E	probably benign	Het
F2rl2	A	C	13: 95,701,114	L222F	probably benign	Het
Fkbp4	T	C	6: 128,436,617	D68G	probably damaging	Het
Fsip2	A	T	2: 82,975,788	D817V	probably damaging	Het
Gm13083	T	C	4: 143,617,225	L365P	probably damaging	Het
Gm19410	G	A	8: 35,772,498	R116H	possibly damaging	Het
Gm9376	A	T	14: 118,267,090		probably benign	Het
Golim4	A	T	3: 75,906,468	F150I	probably damaging	Het
Gtpbp2	G	A	17: 46,167,831	V525M	probably damaging	Het
Hook1	A	G	4: 96,013,262	N486D	probably benign	Het
Hook1	A	G	4: 96,014,812	S513G	probably benign	Het
Hoxd9	A	T	2: 74,698,071	T6S	probably damaging	Het
Hsd3b2	A	T	3: 98,711,735	L298Q	possibly damaging	Het
Idh3b	A	C	2: 130,281,652	S172A	probably benign	Het
Ifnar1	C	T	16: 91,495,479	P207L	probably benign	Het
Ighv5-17	T	A	12: 113,859,238	T88S	possibly damaging	Het
Il16	T	A	7: 83,688,172	K112*	probably null	Het
Kalrn	T	A	16: 33,985,230	I2646F	probably benign	Het
Kcnt1	G	T	2: 25,877,947	G23C	probably damaging	Het
Kirrel2	T	A	7: 30,450,835	I523F	probably damaging	Het
Lrrc3b	A	T	14: 15,358,552	L18H	probably damaging	Het
Med13l	T	A	5: 118,724,149	S386T	probably benign	Het
Mettl6	C	T	14: 31,487,570		probably null	Het
Mocs2	C	T	13: 114,825,343	A120V	possibly damaging	Het
Mrpl39	T	C	16: 84,734,458	T74A	probably benign	Het
Mrvi1	A	T	7: 110,945,954	I45N	possibly damaging	Het
Myh2	T	C	11: 67,178,928	F367L	probably damaging	Het
N4bp1	G	A	8: 86,860,610	Q567*	probably null	Het
Naf1	A	G	8: 66,883,445	I341M	probably damaging	Het
Ncoa6	A	T	2: 155,408,143	N1080K	probably benign	Het
Nell1	C	A	7: 49,982,726	L36I	possibly damaging	Het
Nrxn2	A	G	19: 6,472,418	D446G	probably damaging	Het
Nrxn3	T	A	12: 89,532,967	C709*	probably null	Het
Olfr134	A	C	17: 38,175,803	T240P	probably damaging	Het
Olfr1342	T	G	4: 118,690,219	T78P	probably damaging	Het
Olfr1395	C	G	11: 49,149,052	A265G	probably benign	Het
Olfr27	T	A	9: 39,144,470	Y123*	probably null	Het
Olfr699	A	G	7: 106,790,257	V248A	probably damaging	Het
Ovgp1	T	C	3: 105,986,567		probably benign	Het
Pcnx	T	C	12: 81,918,207	S383P	probably damaging	Het
Pde6h	T	G	6: 136,959,361	F34C	probably damaging	Het
Prl8a9	C	T	13: 27,564,515		probably null	Het
Qdpr	T	C	5: 45,439,327	N165S	probably benign	Het
Rabl2	A	G	15: 89,583,945	F158L	probably damaging	Het
Ryr2	T	C	13: 11,772,577	Y970C	probably damaging	Het
Sf3b3	T	C	8: 110,826,142	T503A	possibly damaging	Het
Sipa1	T	C	19: 5,654,170	E708G	probably damaging	Het
Skor2	T	A	18: 76,861,116	S844R	possibly damaging	Het
Slc6a7	C	T	18: 61,005,743	C231Y	probably damaging	Het
Smgc	A	T	15: 91,845,462	E206D	probably benign	Het
Tanc2	T	C	11: 105,867,464	S684P	possibly damaging	Het
Tep1	T	C	14: 50,845,510	T1014A	possibly damaging	Het
Tex19.1	A	G	11: 121,147,457	S214G	probably benign	Het
Trmt6	G	A	2: 132,808,854	S278L	probably benign	Het
Use1	T	C	8: 71,368,556	S156P	probably benign	Het
Znrf1	G	A	8: 111,609,322	V152M	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
R9332:Eef2k	UTSW	7	120884695	missense	probably benign	0.00
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'- TGCAGGTACCTAGACAACCC -3'
(R):5'- AACACTCACCTTGAAGTGGAAGG -3'

Sequencing Primer
(F):5'- TAGACAACCCTCACGTCTGTC -3'
(R):5'- TCACCTTGAAGTGGAAGGAGCTG -3'

Posted On

2022-06-15