Mutagenetix > Incidental Mutation

Incidental Mutation 'R2171:Eef1akmt3'

237497

Institutional Source

Beutler Lab

Gene Symbol

Eef1akmt3

Ensembl Gene

ENSMUSG00000080115

Gene Name

EEF1A lysine methyltransferase 3

Synonyms

Gm16109, Fam119b, EG546486, Mettl21b

MMRRC Submission

040173-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.153) question?

Stock #

R2171 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

126868654-126877883 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 126868843 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 210 (D210E)

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

probably benign
Transcript: ENSMUST00000116231
AA Change: D210E

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000111939
Gene: ENSMUSG00000080115
AA Change: D210E

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: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abt1	A	G	13: 23,606,387 (GRCm39)	L189P	probably damaging	Het
Adgrl3	C	A	5: 81,660,362 (GRCm39)	S377*	probably null	Het
Adgrv1	A	G	13: 81,419,037 (GRCm39)	V5986A	probably damaging	Het
Arv1	T	G	8: 125,455,094 (GRCm39)	C102W	probably damaging	Het
Asb18	T	C	1: 89,896,419 (GRCm39)	H207R	probably benign	Het
Bach2	T	C	4: 32,501,662 (GRCm39)	V13A	probably damaging	Het
Bccip	T	C	7: 133,320,843 (GRCm39)	S206P	probably benign	Het
Cdhr4	T	C	9: 107,870,117 (GRCm39)	S41P	probably benign	Het
Chd7	A	G	4: 8,752,424 (GRCm39)	Y307C	probably damaging	Het
Clec4f	A	T	6: 83,629,846 (GRCm39)	S237R	possibly damaging	Het
Cntnap5a	A	G	1: 116,116,132 (GRCm39)	D538G	possibly damaging	Het
Col9a2	T	A	4: 120,902,198 (GRCm39)	C173*	probably null	Het
Ctr9	T	A	7: 110,646,117 (GRCm39)	M703K	possibly damaging	Het
Cyp2a12	A	G	7: 26,729,057 (GRCm39)	Y83C	probably damaging	Het
Erbin	A	G	13: 103,971,466 (GRCm39)	F717L	probably benign	Het
Gtf3a	A	G	5: 146,892,272 (GRCm39)	N341S	probably benign	Het
Hltf	T	C	3: 20,113,245 (GRCm39)	V6A	probably damaging	Het
Itga6	T	A	2: 71,650,358 (GRCm39)	Y135N	probably damaging	Het
Krt73	T	C	15: 101,709,345 (GRCm39)	Q154R	possibly damaging	Het
Lce1a1	C	T	3: 92,554,048 (GRCm39)	C142Y	unknown	Het
Lcorl	A	T	5: 45,904,493 (GRCm39)	I112N	probably damaging	Het
Ltbp1	C	T	17: 75,598,312 (GRCm39)	H916Y	probably damaging	Het
Lypla2	T	C	4: 135,697,915 (GRCm39)		probably null	Het
Man1c1	G	C	4: 134,430,749 (GRCm39)	P11R	probably damaging	Het
Mmp1a	T	A	9: 7,475,357 (GRCm39)	D375E	probably damaging	Het
Nlrp14	T	G	7: 106,781,709 (GRCm39)	L302R	probably damaging	Het
Npy2r	T	G	3: 82,447,708 (GRCm39)	T243P	possibly damaging	Het
Or11h4	A	T	14: 50,973,876 (GRCm39)	S248T	probably benign	Het
Or51k2	T	C	7: 103,595,992 (GRCm39)	V73A	probably damaging	Het
Paqr9	A	T	9: 95,442,931 (GRCm39)	H307L	probably damaging	Het
Phc3	T	C	3: 31,005,078 (GRCm39)	T172A	probably damaging	Het
Pigs	A	G	11: 78,219,638 (GRCm39)	T39A	probably damaging	Het
Pik3c2g	C	T	6: 139,801,012 (GRCm39)	Q386*	probably null	Het
Pira2	T	C	7: 3,847,417 (GRCm39)	S91G	probably benign	Het
Plxna2	T	A	1: 194,482,925 (GRCm39)	N1539K	probably damaging	Het
Poc5	C	T	13: 96,547,257 (GRCm39)	H507Y	probably damaging	Het
Pou2f1	A	T	1: 165,707,925 (GRCm39)		probably benign	Het
Pthlh	T	G	6: 147,158,694 (GRCm39)	K89Q	probably damaging	Het
Rims4	A	T	2: 163,706,046 (GRCm39)		probably null	Het
Rnf138	A	G	18: 21,159,143 (GRCm39)	N188D	probably damaging	Het
Rreb1	A	G	13: 38,114,822 (GRCm39)	D727G	probably benign	Het
Sc5d	T	G	9: 42,166,682 (GRCm39)	K286Q	probably benign	Het
Slc10a5	C	T	3: 10,400,342 (GRCm39)	G106D	possibly damaging	Het
Smg6	A	T	11: 74,929,472 (GRCm39)	Q967L	probably damaging	Het
Spty2d1	C	T	7: 46,644,361 (GRCm39)	R636H	probably damaging	Het
Srms	A	T	2: 180,850,573 (GRCm39)	Y195*	probably null	Het
Susd4	A	G	1: 182,719,759 (GRCm39)	D458G	probably benign	Het
Tecta	T	C	9: 42,270,220 (GRCm39)	R1363G	probably damaging	Het
Thbs1	G	A	2: 117,953,060 (GRCm39)	G890D	probably damaging	Het
Tpp2	T	C	1: 43,996,606 (GRCm39)	V317A	probably benign	Het
Ttpa	T	C	4: 20,021,357 (GRCm39)	V175A	probably damaging	Het
Vps13b	G	T	15: 35,887,343 (GRCm39)	D3251Y	probably benign	Het
Vps54	A	G	11: 21,248,810 (GRCm39)	D441G	probably benign	Het
Zfp738	A	T	13: 67,819,096 (GRCm39)	Y298*	probably null	Het
Zfp804a	G	A	2: 82,087,527 (GRCm39)	C452Y	possibly damaging	Het
Zxdc	A	G	6: 90,359,461 (GRCm39)	K698E	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
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
R6237:Eef1akmt3	UTSW	10	126,868,877 (GRCm39)	missense	possibly damaging	0.78
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'- CGTGTACCTGGAACCTACCTTC -3'

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

Posted On

2014-10-02