Mutagenetix > Incidental Mutation

Incidental Mutation 'R6237:Eef1akmt3'

505008

Institutional Source

Beutler Lab

Gene Symbol

Eef1akmt3

Ensembl Gene

ENSMUSG00000080115

Gene Name

EEF1A lysine methyltransferase 3

Synonyms

Gm16109, Fam119b, EG546486, Mettl21b

MMRRC Submission

044362-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.112) question?

Stock #

R6237 (G1)

Quality Score

207.009

Status

Validated

Chromosome

Chromosomal Location

126868654-126877883 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 126868877 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 199 (H199L)

Ref Sequence

ENSEMBL: ENSMUSP00000111939 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040560] [ENSMUST00000116231] [ENSMUST00000120547] [ENSMUST00000152054]

AlphaFold

D3YWP0

Predicted Effect

probably benign
Transcript: ENSMUST00000040560

SMART Domains

Protein: ENSMUSP00000042134
Gene: ENSMUSG00000040521

Domain	Start	End	E-Value	Type
low complexity region	38	52	N/A	INTRINSIC
Pfam:EF_TS	115	273	9.6e-23	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000116231
AA Change: H199L

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000111939
Gene: ENSMUSG00000080115
AA Change: H199L

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_16	35	198	4.4e-39	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000120547

SMART Domains

Protein: ENSMUSP00000113446
Gene: ENSMUSG00000040521

Domain	Start	End	E-Value	Type
Pfam:UBA	44	81	3.4e-10	PFAM
Pfam:EF_TS	101	192	1.3e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134917

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140564

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145476

Predicted Effect

probably benign
Transcript: ENSMUST00000152054

SMART Domains

Protein: ENSMUSP00000122669
Gene: ENSMUSG00000040521

Domain	Start	End	E-Value	Type
Pfam:UBA	44	81	1.2e-10	PFAM
SCOP:d1efub4	101	120	5e-4	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.4%

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adad2	G	A	8: 120,342,502 (GRCm39)	R380H	probably damaging	Het
Akr1c12	C	A	13: 4,325,767 (GRCm39)	D109Y	possibly damaging	Het
Cacna1s	A	T	1: 136,033,582 (GRCm39)	M1020L	possibly damaging	Het
Cbx8	C	A	11: 118,931,213 (GRCm39)	R25L	possibly damaging	Het
Ccdc87	A	G	19: 4,891,407 (GRCm39)	Y633C	probably benign	Het
Col4a4	C	T	1: 82,484,752 (GRCm39)	S505N	unknown	Het
Cr2	T	A	1: 194,839,810 (GRCm39)	H539L	probably damaging	Het
Cyp2b9	T	A	7: 25,872,999 (GRCm39)	D47E	probably benign	Het
Dnah3	A	C	7: 119,608,607 (GRCm39)	M1784R	probably damaging	Het
Dnah8	T	A	17: 30,966,828 (GRCm39)	L2520*	probably null	Het
E2f2	A	G	4: 135,905,796 (GRCm39)	E103G	possibly damaging	Het
Faxc	A	T	4: 21,993,376 (GRCm39)	N340I	possibly damaging	Het
Fer1l6	A	T	15: 58,497,026 (GRCm39)	R1199*	probably null	Het
Fer1l6	A	G	15: 58,509,855 (GRCm39)	D1439G	probably damaging	Het
Galnt5	G	T	2: 57,925,261 (GRCm39)	W847C	probably damaging	Het
Gbp2	G	A	3: 142,337,793 (GRCm39)	S303N	probably benign	Het
Glipr1l1	A	T	10: 111,896,332 (GRCm39)	K40*	probably null	Het
Gm4353	A	C	7: 115,683,134 (GRCm39)	L149R	possibly damaging	Het
Grk5	A	G	19: 61,078,380 (GRCm39)	D479G	probably damaging	Het
Gzmc	T	A	14: 56,471,486 (GRCm39)		probably null	Het
Hace1	T	C	10: 45,524,986 (GRCm39)	Y251H	probably benign	Het
Hhla1	G	T	15: 65,813,646 (GRCm39)	P229T	probably damaging	Het
Hspa1l	C	T	17: 35,196,428 (GRCm39)	Q156*	probably null	Het
Igkv4-78	A	T	6: 69,036,683 (GRCm39)	Y117N	probably benign	Het
Ikzf3	C	A	11: 98,357,879 (GRCm39)	R486L	probably damaging	Het
Itpr1	C	T	6: 108,355,164 (GRCm39)	T485M	possibly damaging	Het
Kcnab3	T	C	11: 69,219,401 (GRCm39)	Y131H	probably benign	Het
Kcnu1	C	T	8: 26,422,362 (GRCm39)	P209L	probably benign	Het
Klk1b8	T	A	7: 43,448,094 (GRCm39)	C39*	probably null	Het
Mbtps1	A	G	8: 120,255,700 (GRCm39)	L519P	probably damaging	Het
Mgat4a	A	G	1: 37,495,673 (GRCm39)	I287T	probably damaging	Het
Mindy2	T	C	9: 70,512,480 (GRCm39)	E590G	possibly damaging	Het
Mllt11	G	T	3: 95,127,602 (GRCm39)	T56K	probably benign	Het
Myo5b	G	A	18: 74,875,249 (GRCm39)	R1551H	probably damaging	Het
Nmrk2	T	C	10: 81,036,796 (GRCm39)	T16A	possibly damaging	Het
Or2ab1	T	A	11: 58,488,831 (GRCm39)	F203Y	probably damaging	Het
Or7e170	G	T	9: 19,795,365 (GRCm39)	P79T	probably damaging	Het
Osbpl9	T	C	4: 109,013,899 (GRCm39)	D65G	probably damaging	Het
Phf2	T	A	13: 48,957,131 (GRCm39)	K1079*	probably null	Het
Plcb1	A	G	2: 135,212,486 (GRCm39)	S1026G	possibly damaging	Het
Pnrc2	A	T	4: 135,599,397 (GRCm39)	H117Q	probably benign	Het
Ppfia2	A	T	10: 106,749,455 (GRCm39)	I1114F	probably damaging	Het
Rpl12	G	A	2: 32,853,000 (GRCm39)	E72K	probably benign	Het
Sbf1	C	T	15: 89,177,679 (GRCm39)	R1642H	probably benign	Het
Sephs2	G	A	7: 126,873,118 (GRCm39)		probably benign	Het
Slc35c2	A	T	2: 165,122,617 (GRCm39)	L194H	probably damaging	Het
Slfn4	T	A	11: 83,079,938 (GRCm39)	Y150N	probably damaging	Het
Srbd1	T	C	17: 86,292,723 (GRCm39)	R949G	probably damaging	Het
Urah	T	A	7: 140,415,618 (GRCm39)	S28T	probably damaging	Het
Wdr62	A	G	7: 29,941,860 (GRCm39)	S649P	probably damaging	Het
Wnk1	C	A	6: 119,929,728 (GRCm39)	G1263V	probably damaging	Het
Zbtb4	C	A	11: 69,669,069 (GRCm39)	D114E	possibly damaging	Het

Other mutations in Eef1akmt3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01763:Eef1akmt3	APN	10	126,876,952 (GRCm39)	missense	probably benign
IGL02346:Eef1akmt3	APN	10	126,868,805 (GRCm39)	missense	probably benign
R0158:Eef1akmt3	UTSW	10	126,869,142 (GRCm39)	nonsense	probably null
R2171:Eef1akmt3	UTSW	10	126,868,843 (GRCm39)	missense	probably benign	0.00
R4930:Eef1akmt3	UTSW	10	126,877,224 (GRCm39)	missense	possibly damaging	0.88
R5437:Eef1akmt3	UTSW	10	126,869,116 (GRCm39)	missense	probably damaging	1.00
R6043:Eef1akmt3	UTSW	10	126,869,147 (GRCm39)	missense	probably damaging	1.00
R7206:Eef1akmt3	UTSW	10	126,876,862 (GRCm39)	missense	probably damaging	1.00
R7820:Eef1akmt3	UTSW	10	126,869,063 (GRCm39)	missense	possibly damaging	0.78
R9001:Eef1akmt3	UTSW	10	126,877,232 (GRCm39)	missense	probably benign	0.01
R9631:Eef1akmt3	UTSW	10	126,877,161 (GRCm39)	missense	probably benign	0.11

Predicted Primers

PCR Primer
(F):5'- TGCCATTCCTAACAAGCAGC -3'
(R):5'- GAAACTATGACTTGGTGCTGGG -3'

Sequencing Primer
(F):5'- CTGCATCTTCCCAAGAGTAGTTAAGG -3'
(R):5'- GGGCGGATATCGTGTACC -3'

Posted On

2018-02-28