Mutagenetix > Incidental Mutation

Incidental Mutation 'R9777:Eef2k'

733780

Institutional Source

Beutler Lab

Gene Symbol

Eef2k

Ensembl Gene

ENSMUSG00000035064

Gene Name

eukaryotic elongation factor-2 kinase

Synonyms

eEF-2K

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9777 (G1)

Quality Score

128.467

Status

Not validated

Chromosome

Chromosomal Location

120442080-120506441 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

TATTCATTCATTCATTCATTCATTCATTCA to TATTCATTCATTCATTCATTCATTCA at 120499453 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000102096 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047875] [ENSMUST00000106487] [ENSMUST00000106488] [ENSMUST00000106489] [ENSMUST00000146482]

AlphaFold

O08796

Predicted Effect

probably benign
Transcript: ENSMUST00000047875

SMART Domains

Protein: ENSMUSP00000046595
Gene: ENSMUSG00000035064

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: ENSMUST00000106487

SMART Domains

Protein: ENSMUSP00000102096
Gene: ENSMUSG00000035064

Domain	Start	End	E-Value	Type
Blast:Alpha_kinase	5	81	1e-12	BLAST
Alpha_kinase	120	317	7.75e-109	SMART
Pfam:Sel1	432	472	1.8e-3	PFAM
Pfam:Sel1	474	518	7.2e-3	PFAM
Pfam:Sel1	519	555	8e-2	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106488

SMART Domains

Protein: ENSMUSP00000102097
Gene: ENSMUSG00000035064

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

SMART Domains

Protein: ENSMUSP00000102098
Gene: ENSMUSG00000035064

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.3%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	A	C	10: 10,283,214 (GRCm39)	M164R	possibly damaging	Het
Alg10b	T	A	15: 90,111,656 (GRCm39)	C167S	probably benign	Het
Ap2m1	C	A	16: 20,358,113 (GRCm39)	R44S	probably damaging	Het
Atrip	T	C	9: 108,902,964 (GRCm39)	S37G	probably benign	Het
Bicra	C	T	7: 15,705,987 (GRCm39)	V1485M	probably benign	Het
Brca2	C	T	5: 150,480,579 (GRCm39)	T2755I	probably damaging	Het
C1qtnf7	A	T	5: 43,673,313 (GRCm39)		probably benign	Het
Ccdc7a	C	T	8: 129,618,860 (GRCm39)	A895T	possibly damaging	Het
Cep290	T	C	10: 100,354,529 (GRCm39)	M871T	probably benign	Het
Col19a1	A	G	1: 24,318,904 (GRCm39)	V1062A	unknown	Het
Col24a1	T	A	3: 145,021,103 (GRCm39)	Y491*	probably null	Het
Cyp2c66	A	T	19: 39,102,520 (GRCm39)	I50F	probably benign	Het
Dbn1	C	A	13: 55,625,639 (GRCm39)	R261L	probably benign	Het
Dlat	G	A	9: 50,562,208 (GRCm39)	A272V	probably damaging	Het
Dlgap3	A	T	4: 127,130,127 (GRCm39)	E967V	possibly damaging	Het
Dnhd1	A	G	7: 105,369,456 (GRCm39)	M4360V	probably benign	Het
Dock7	C	T	4: 98,877,464 (GRCm39)	R1058Q	unknown	Het
Dpp4	T	A	2: 62,195,340 (GRCm39)	I313F	probably benign	Het
Dus1l	C	T	11: 120,683,858 (GRCm39)	V197I	possibly damaging	Het
Fat3	A	G	9: 15,826,537 (GRCm39)	S324P	probably benign	Het
Fkbp9	C	T	6: 56,855,181 (GRCm39)	H567Y	possibly damaging	Het
Galnt10	C	A	11: 57,672,065 (GRCm39)	P452T	probably damaging	Het
Glb1	A	T	9: 114,246,084 (GRCm39)	D45V	probably damaging	Het
Grm1	A	T	10: 10,573,826 (GRCm39)	V904E	possibly damaging	Het
Gsdma3	T	G	11: 98,526,071 (GRCm39)	V274G	probably damaging	Het
Gsn	A	G	2: 35,194,600 (GRCm39)	E681G	probably damaging	Het
Hpdl	A	G	4: 116,678,062 (GRCm39)	L133P	probably damaging	Het
Ighv1-75	A	G	12: 115,797,655 (GRCm39)	L89P	probably damaging	Het
Igsf21	T	A	4: 139,755,407 (GRCm39)	Q416L	probably damaging	Het
Il23a	G	C	10: 128,132,829 (GRCm39)	R143G	probably benign	Het
Ildr1	A	G	16: 36,528,659 (GRCm39)	T35A	probably benign	Het
Ints13	G	T	6: 146,463,326 (GRCm39)	H235Q	probably damaging	Het
Lama4	C	T	10: 38,924,101 (GRCm39)	T503I	probably benign	Het
Mapk13	T	A	17: 28,997,075 (GRCm39)	L289Q	probably damaging	Het
Med13l	T	C	5: 118,887,024 (GRCm39)	S1642P	probably benign	Het
Megf6	T	A	4: 154,343,617 (GRCm39)	S713R	probably damaging	Het
Mical3	A	G	6: 120,959,529 (GRCm39)	V922A	possibly damaging	Het
Mug1	C	T	6: 121,857,864 (GRCm39)	T1119M	probably damaging	Het
Myo18a	T	A	11: 77,733,080 (GRCm39)	M1370K	possibly damaging	Het
Ndufa12	A	G	10: 94,056,692 (GRCm39)	E140G	probably damaging	Het
Nek4	T	A	14: 30,706,401 (GRCm39)	D696E	probably benign	Het
Oas1f	A	G	5: 120,994,429 (GRCm39)	T317A	probably benign	Het
Or14c39	T	C	7: 86,343,988 (GRCm39)	V108A	probably benign	Het
Or2r11	A	G	6: 42,437,029 (GRCm39)	I308T	probably benign	Het
Or6c210	T	C	10: 129,495,705 (GRCm39)	I10T	probably benign	Het
Pcdh17	C	T	14: 84,683,683 (GRCm39)	P50L	probably benign	Het
Pgs1	A	G	11: 117,894,256 (GRCm39)	E261G	probably benign	Het
Pira12	T	G	7: 3,897,612 (GRCm39)	R494S	probably damaging	Het
Ppp1r1a	T	C	15: 103,439,857 (GRCm39)	E145G	possibly damaging	Het
Ppp1r37	T	C	7: 19,295,783 (GRCm39)	E58G	probably benign	Het
Ptprc	A	T	1: 138,047,901 (GRCm39)	V77E		Het
Rhag	A	G	17: 41,139,416 (GRCm39)	E117G	probably benign	Het
Sh3d19	C	T	3: 86,028,483 (GRCm39)	S653L	probably benign	Het
Sirpd	C	A	3: 15,385,813 (GRCm39)	E30*	probably null	Het
Slc35a5	C	T	16: 44,972,939 (GRCm39)		probably null	Het
Smc4	C	T	3: 68,929,655 (GRCm39)	R510*	probably null	Het
Sorcs1	A	G	19: 50,248,190 (GRCm39)		probably null	Het
Sp140	A	G	1: 85,569,461 (GRCm39)	N357S	probably damaging	Het
Spic	T	A	10: 88,514,421 (GRCm39)	T60S	possibly damaging	Het
Steap1	C	A	5: 5,786,517 (GRCm39)	A307S	probably benign	Het
Stk3	A	T	15: 35,114,791 (GRCm39)	S40R	probably damaging	Het
Taar1	T	C	10: 23,796,676 (GRCm39)	C125R	probably damaging	Het
Tep1	T	A	14: 51,076,443 (GRCm39)	K1664*	probably null	Het
Tmem198b	C	A	10: 128,638,273 (GRCm39)	V97L	possibly damaging	Het
Xirp2	C	A	2: 67,347,379 (GRCm39)	P3207T	possibly damaging	Het
Zbtb38	C	G	9: 96,570,355 (GRCm39)	S243T	possibly damaging	Het
Zbtb38	T	A	9: 96,570,356 (GRCm39)	S243C	probably damaging	Het
Zfp692	C	T	11: 58,199,638 (GRCm39)	R76W	probably benign	Het
Zwilch	A	T	9: 64,054,170 (GRCm39)	L509H	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
R5610:Eef2k	UTSW	7	120,486,005 (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
Z1177:Eef2k	UTSW	7	120,457,676 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- CACGTGGCAGTGAGGTGG -3'
(R):5'- ATGACCTCAGACCCCTCCT -3'

Sequencing Primer
(F):5'- GAGGGGGCAGAGAGAGACCTAC -3'
(R):5'- ACCTGGAGCTTGCTAAATCAG -3'

Posted On

2022-11-14