Mutagenetix > Incidental Mutation

Incidental Mutation 'R6616:Eef2kmt'

524093

Institutional Source

Beutler Lab

Gene Symbol

Eef2kmt

Ensembl Gene

ENSMUSG00000022544

Gene Name

eukaryotic elongation factor 2 lysine methyltransferase

Synonyms

Fam86, 5730409G15Rik

MMRRC Submission

044739-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6616 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5062019-5073820 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 5065346 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 287 (D287V)

Ref Sequence

ENSEMBL: ENSMUSP00000068003 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049207] [ENSMUST00000064635] [ENSMUST00000100196] [ENSMUST00000139584]

AlphaFold

Q3UZW7

Predicted Effect

probably benign
Transcript: ENSMUST00000049207

SMART Domains

Protein: ENSMUSP00000046534
Gene: ENSMUSG00000039427

Domain	Start	End	E-Value	Type
transmembrane domain	5	23	N/A	INTRINSIC
Pfam:Glycos_transf_1	246	422	8e-14	PFAM
Pfam:Glyco_trans_1_4	250	400	1.4e-24	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000064635
AA Change: D287V

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000068003
Gene: ENSMUSG00000022544
AA Change: D287V

Domain	Start	End	E-Value	Type
Pfam:FAM86	6	99	2.7e-42	PFAM
Pfam:Methyltransf_16	119	299	2.9e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000100196

SMART Domains

Protein: ENSMUSP00000097770
Gene: ENSMUSG00000039427

Domain	Start	End	E-Value	Type
transmembrane domain	5	23	N/A	INTRINSIC
Pfam:Glycos_transf_1	270	447	2.4e-13	PFAM
Pfam:Glyco_trans_1_4	276	426	1.5e-24	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129729

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132225

Predicted Effect

probably damaging
Transcript: ENSMUST00000139584
AA Change: D287V

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000123572
Gene: ENSMUSG00000022544
AA Change: D287V

Domain	Start	End	E-Value	Type
Pfam:FAM86	1	100	2.7e-62	PFAM
Pfam:Methyltransf_16	119	299	2e-23	PFAM
low complexity region	311	322	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140718

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230238

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142902

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.8%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	A	T	17: 24,603,509 (GRCm39)	H567L	probably damaging	Het
Adck1	T	A	12: 88,427,958 (GRCm39)	M525K	unknown	Het
Alpi	T	C	1: 87,028,836 (GRCm39)	I74V	possibly damaging	Het
Ccdc168	C	A	1: 44,100,634 (GRCm39)	V155L	possibly damaging	Het
Creb5	A	C	6: 53,662,295 (GRCm39)	Q197H	possibly damaging	Het
Cyp2b13	A	G	7: 25,785,306 (GRCm39)	K225R	probably benign	Het
Dock1	G	A	7: 134,710,221 (GRCm39)	E1143K	possibly damaging	Het
Eif2ak4	T	A	2: 118,285,326 (GRCm39)	Y1046*	probably null	Het
Fbxw10	T	A	11: 62,743,850 (GRCm39)	M252K	probably benign	Het
Fnip2	A	C	3: 79,388,189 (GRCm39)	H847Q	probably benign	Het
Frmd3	A	T	4: 74,105,725 (GRCm39)	D457V	probably damaging	Het
Gm13941	T	G	2: 110,931,520 (GRCm39)	E37D	unknown	Het
Grin1	T	A	2: 25,182,122 (GRCm39)	I870F	possibly damaging	Het
Grin2b	A	C	6: 135,709,549 (GRCm39)	D1332E	probably benign	Het
Gtpbp4	G	A	13: 9,039,141 (GRCm39)	T201I	possibly damaging	Het
Heatr4	A	G	12: 84,026,904 (GRCm39)	C118R	probably benign	Het
Hltf	T	A	3: 20,163,651 (GRCm39)		probably null	Het
Hmcn1	C	T	1: 150,599,008 (GRCm39)		probably null	Het
Hpd	A	T	5: 123,310,123 (GRCm39)	L367Q	probably damaging	Het
Htr1b	A	G	9: 81,514,487 (GRCm39)	I40T	probably benign	Het
Il16	A	G	7: 83,295,684 (GRCm39)	S464P	probably benign	Het
Lrp1b	T	A	2: 40,589,643 (GRCm39)	D75V	unknown	Het
Map3k4	A	T	17: 12,490,231 (GRCm39)	L400Q	probably damaging	Het
Mcts2	T	A	2: 152,529,582 (GRCm39)	I131N	possibly damaging	Het
Mroh2b	A	C	15: 4,982,764 (GRCm39)	I1528L	probably benign	Het
Muc4	A	C	16: 32,602,378 (GRCm39)	D3467A	possibly damaging	Het
Mypn	A	T	10: 63,005,091 (GRCm39)	C339S	probably damaging	Het
Ncoa5	A	T	2: 164,852,483 (GRCm39)	Y130*	probably null	Het
Or11g27	T	A	14: 50,771,364 (GRCm39)	I165N	probably benign	Het
Or2y11	T	A	11: 49,442,868 (GRCm39)	V98E	probably damaging	Het
Pcdha4	A	G	18: 37,086,953 (GRCm39)	T379A	probably benign	Het
Pkp4	C	G	2: 59,180,896 (GRCm39)	Y720*	probably null	Het
Prl5a1	C	T	13: 28,333,839 (GRCm39)	T114I	probably benign	Het
Rnd3	A	G	2: 51,024,169 (GRCm39)	S137P	probably damaging	Het
Rtel1	G	A	2: 180,994,579 (GRCm39)	E680K	possibly damaging	Het
Sbsn	T	A	7: 30,452,704 (GRCm39)	V573D	possibly damaging	Het
Scaf8	A	T	17: 3,218,330 (GRCm39)	L233F	unknown	Het
Sec23a	A	T	12: 59,043,941 (GRCm39)	I241K	possibly damaging	Het
Secisbp2l	A	T	2: 125,610,146 (GRCm39)	S258T	probably damaging	Het
Skint4	A	G	4: 111,975,427 (GRCm39)	H121R	possibly damaging	Het
Sptbn1	T	A	11: 30,074,030 (GRCm39)	E1346D	probably benign	Het
Srsf11	C	T	3: 157,728,981 (GRCm39)		probably benign	Het
Stpg4	A	G	17: 87,730,124 (GRCm39)	Y74H	probably damaging	Het
Tenm4	G	A	7: 96,202,703 (GRCm39)	R106H	probably benign	Het
Tmc4	A	G	7: 3,674,057 (GRCm39)	V374A	possibly damaging	Het
Unc45b	G	A	11: 82,802,645 (GRCm39)	R47Q	probably damaging	Het
Xirp1	A	G	9: 119,848,080 (GRCm39)	S268P	probably damaging	Het
Zfp990	A	T	4: 145,263,715 (GRCm39)	I238L	probably benign	Het
Zswim5	A	G	4: 116,843,938 (GRCm39)	D992G	possibly damaging	Het

Other mutations in Eef2kmt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2259:Eef2kmt	UTSW	16	5,063,172 (GRCm39)	missense	probably benign	0.30
R2267:Eef2kmt	UTSW	16	5,073,804 (GRCm39)	start gained	probably benign
R4036:Eef2kmt	UTSW	16	5,063,135 (GRCm39)	missense	probably damaging	0.98
R4037:Eef2kmt	UTSW	16	5,063,135 (GRCm39)	missense	probably damaging	0.98
R4038:Eef2kmt	UTSW	16	5,063,135 (GRCm39)	missense	probably damaging	0.98
R4088:Eef2kmt	UTSW	16	5,070,899 (GRCm39)	missense	probably damaging	1.00
R4836:Eef2kmt	UTSW	16	5,066,867 (GRCm39)	missense	probably damaging	0.98
R4974:Eef2kmt	UTSW	16	5,066,876 (GRCm39)	missense	probably benign	0.14
R5023:Eef2kmt	UTSW	16	5,065,463 (GRCm39)	missense	probably damaging	1.00
R5282:Eef2kmt	UTSW	16	5,063,222 (GRCm39)	missense	probably benign	0.27
R5444:Eef2kmt	UTSW	16	5,066,959 (GRCm39)	intron	probably benign
R5635:Eef2kmt	UTSW	16	5,066,893 (GRCm39)	missense	probably damaging	0.99
R7320:Eef2kmt	UTSW	16	5,068,373 (GRCm39)	missense	possibly damaging	0.93
R7343:Eef2kmt	UTSW	16	5,065,299 (GRCm39)	missense	probably damaging	0.98
R9613:Eef2kmt	UTSW	16	5,067,272 (GRCm39)	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- AGTGCCCAAAACAATGGCAG -3'
(R):5'- TCTTAATACTGCAGCTCCCAAG -3'

Sequencing Primer
(F):5'- AGCCAACTGCCCATTGC -3'
(R):5'- TGCCCCCAGAGTGAGAC -3'

Posted On

2018-06-22