Mutagenetix > Incidental Mutation

Incidental Mutation 'R9613:Eef2kmt'

724407

Institutional Source

Beutler Lab

Gene Symbol

Eef2kmt

Ensembl Gene

ENSMUSG00000022544

Gene Name

eukaryotic elongation factor 2 lysine methyltransferase

Synonyms

Fam86, 5730409G15Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9613 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

5062019-5073820 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 5067272 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Alanine at position 94 (E94A)

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

possibly damaging
Transcript: ENSMUST00000064635
AA Change: E94A

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000068003
Gene: ENSMUSG00000022544
AA Change: E94A

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

probably damaging
Transcript: ENSMUST00000139584
AA Change: E94A

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000123572
Gene: ENSMUSG00000022544
AA Change: E94A

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

Coding Region Coverage

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	G	A	3: 137,771,126 (GRCm39)	R105H	probably damaging	Het
Baz2b	A	T	2: 59,731,824 (GRCm39)	N2071K	probably benign	Het
Chd9	C	A	8: 91,683,150 (GRCm39)	S530*	probably null	Het
Col6a6	G	A	9: 105,616,401 (GRCm39)	H1558Y	probably benign	Het
Cyp7a1	A	G	4: 6,272,587 (GRCm39)	F209L	probably damaging	Het
D430041D05Rik	A	G	2: 104,060,737 (GRCm39)	Y702H	probably benign	Het
Ddx46	T	A	13: 55,787,749 (GRCm39)		probably null	Het
Dgat2	C	G	7: 98,831,692 (GRCm39)	G10R	probably benign	Het
Dync2h1	T	A	9: 7,075,769 (GRCm39)	M3033L	probably damaging	Het
Eef1g	A	G	19: 8,955,018 (GRCm39)	N367S	probably benign	Het
Ermp1	C	A	19: 29,617,256 (GRCm39)		probably null	Het
Ewsr1	A	C	11: 5,028,924 (GRCm39)	D346E	unknown	Het
Fam227a	G	A	15: 79,518,284 (GRCm39)	T340M	probably benign	Het
Fxr1	G	A	3: 34,100,352 (GRCm39)	V104I	probably benign	Het
Gm6176	A	G	7: 21,750,529 (GRCm39)	V134A	possibly damaging	Het
Igdcc4	G	A	9: 65,027,522 (GRCm39)	V195I	possibly damaging	Het
Ighv2-5	A	G	12: 113,649,189 (GRCm39)	I88T		Het
Irf8	A	T	8: 121,481,207 (GRCm39)	T355S	probably benign	Het
Kif20b	T	A	19: 34,919,934 (GRCm39)	S751T	possibly damaging	Het
Kitl	A	G	10: 99,916,781 (GRCm39)	N195D	probably damaging	Het
Kmt2d	CTGTTG	CTG	15: 98,743,057 (GRCm39)		probably benign	Het
Macf1	A	G	4: 123,420,288 (GRCm39)	F322S	probably benign	Het
Map6	T	C	7: 98,918,384 (GRCm39)	S386P	possibly damaging	Het
Nup214	A	G	2: 31,901,035 (GRCm39)	D906G	possibly damaging	Het
Oacyl	A	C	18: 65,864,524 (GRCm39)	T356P	probably damaging	Het
Or1e28-ps1	A	T	11: 73,615,639 (GRCm39)	D70E	probably damaging	Het
Or2at1	A	G	7: 99,416,536 (GRCm39)	T56A	probably benign	Het
Plekha1	C	A	7: 130,479,488 (GRCm39)	P2H	probably damaging	Het
Plekhg4	T	A	8: 106,107,620 (GRCm39)	D1050E	probably damaging	Het
Plxnb2	T	C	15: 89,048,496 (GRCm39)	T638A	probably benign	Het
Pole4	T	C	6: 82,629,099 (GRCm39)	Q89R	probably benign	Het
Prg4	T	C	1: 150,331,660 (GRCm39)	T338A	unknown	Het
Prpf3	G	A	3: 95,758,931 (GRCm39)	R74*	probably null	Het
Prss44	C	A	9: 110,643,806 (GRCm39)	A150E	probably damaging	Het
Prss51	T	A	14: 64,332,461 (GRCm39)	V2E	possibly damaging	Het
Ptpn12	A	G	5: 21,203,621 (GRCm39)	Y386H	probably damaging	Het
Septin4	A	T	11: 87,469,823 (GRCm39)	H3L	possibly damaging	Het
Spata16	G	A	3: 26,932,814 (GRCm39)	V347M	probably damaging	Het
Spata31f1e	A	G	4: 42,792,992 (GRCm39)	V380A	probably benign	Het
Spinkl	T	A	18: 44,301,212 (GRCm39)	Y42F	probably damaging	Het
Suds3	A	T	5: 117,243,234 (GRCm39)	M168K	possibly damaging	Het
Tdrd6	A	G	17: 43,939,518 (GRCm39)	I510T	probably damaging	Het
Tnfrsf22	T	C	7: 143,198,583 (GRCm39)	H44R	probably benign	Het
Trh	G	A	6: 92,219,840 (GRCm39)	R159*	probably null	Het
Ubr4	C	A	4: 139,149,073 (GRCm39)	S457R		Het
Usp54	T	C	14: 20,600,438 (GRCm39)	Y1433C	probably damaging	Het
Vmn1r120	G	A	7: 20,787,046 (GRCm39)	L222F	probably benign	Het
Vmn2r22	T	C	6: 123,615,075 (GRCm39)	I172V	probably damaging	Het
Vmn2r84	A	G	10: 130,226,591 (GRCm39)	S416P	probably damaging	Het
Wapl	T	C	14: 34,453,520 (GRCm39)	V855A	probably benign	Het
Zmynd19	A	G	2: 24,848,217 (GRCm39)	I177V		Het
Zscan4e	G	A	7: 11,040,898 (GRCm39)	Q325*	probably null	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
R6616:Eef2kmt	UTSW	16	5,065,346 (GRCm39)	missense	probably damaging	0.98
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

Predicted Primers

PCR Primer
(F):5'- TGCTGAGCAGAATGTGATATGG -3'
(R):5'- TTGACTTCCATCACCAGCAC -3'

Sequencing Primer
(F):5'- GCAAGGAGCCAATCTCAGGTTC -3'
(R):5'- CCAGCACTACGAATGCTGTG -3'

Posted On

2022-09-12