Mutagenetix > Incidental Mutation

Incidental Mutation 'R9613:Eef1g'

724411

Institutional Source

Beutler Lab

Gene Symbol

Eef1g

Ensembl Gene

ENSMUSG00000071644

Gene Name

eukaryotic translation elongation factor 1 gamma

Synonyms

2610301D06Rik, EF1G

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.959) question?

Stock #

R9613 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

8944405-8955544 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 8955018 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 367 (N367S)

Ref Sequence

ENSEMBL: ENSMUSP00000093955 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052248]

AlphaFold

Q9D8N0

Predicted Effect

probably benign
Transcript: ENSMUST00000052248
AA Change: N367S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000093955
Gene: ENSMUSG00000071644
AA Change: N367S

Domain	Start	End	E-Value	Type
Pfam:GST_N	2	81	1.5e-25	PFAM
Pfam:GST_N_3	6	83	1.4e-8	PFAM
Pfam:GST_C_3	88	194	8.3e-13	PFAM
Pfam:GST_C	106	198	4.5e-22	PFAM
Pfam:GST_C_2	125	191	8.6e-12	PFAM
low complexity region	238	262	N/A	INTRINSIC
EF1G	275	381	3.63e-78	SMART

Coding Region Coverage

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

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This subunit contains an N-terminal glutathione transferase domain, which may be involved in regulating the assembly of multisubunit complexes containing this elongation factor and aminoacyl-tRNA synthetases. [provided by RefSeq, Jul 2008]

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
Eef2kmt	T	G	16: 5,067,272 (GRCm39)	E94A	possibly damaging	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 Eef1g

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0577:Eef1g	UTSW	19	8,950,406 (GRCm39)	missense	probably benign	0.02
R1871:Eef1g	UTSW	19	8,955,330 (GRCm39)	missense	possibly damaging	0.80
R3946:Eef1g	UTSW	19	8,947,341 (GRCm39)	missense	probably benign	0.23
R4698:Eef1g	UTSW	19	8,955,330 (GRCm39)	missense	possibly damaging	0.70
R6112:Eef1g	UTSW	19	8,954,955 (GRCm39)	missense	probably damaging	1.00
R6672:Eef1g	UTSW	19	8,944,411 (GRCm39)	splice site	probably null
R6944:Eef1g	UTSW	19	8,945,656 (GRCm39)	missense	probably benign
R7665:Eef1g	UTSW	19	8,945,653 (GRCm39)	missense	probably benign	0.19
R7725:Eef1g	UTSW	19	8,955,427 (GRCm39)	missense	probably benign	0.00
R7836:Eef1g	UTSW	19	8,954,738 (GRCm39)	missense	probably benign	0.10
R9139:Eef1g	UTSW	19	8,955,383 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGCTGACCCAGACCTTCATG -3'
(R):5'- TGACAGCAGATGCCAGGATTC -3'

Sequencing Primer
(F):5'- ATGAGTTGCAACCTCATCACTGG -3'
(R):5'- GCCAGGATTCCCACTGATTTGAG -3'

Posted On

2022-09-12