Mutagenetix > Incidental Mutation

Incidental Mutation 'R9277:Eif4g2'

703374

Institutional Source

Beutler Lab

Gene Symbol

Eif4g2

Ensembl Gene

ENSMUSG00000005610

Gene Name

eukaryotic translation initiation factor 4, gamma 2

Synonyms

DAP-5, Nat1, E130105L11Rik, Natm1

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R9277 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

111067750-111083030 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 111074859 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 646 (A646V)

Ref Sequence

ENSEMBL: ENSMUSP00000124551 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000159305] [ENSMUST00000160132] [ENSMUST00000161051] [ENSMUST00000162415]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000159305

SMART Domains

Protein: ENSMUSP00000125098
Gene: ENSMUSG00000005610

Domain	Start	End	E-Value	Type
low complexity region	8	25	N/A	INTRINSIC
Blast:MIF4G	32	83	4e-22	BLAST
SCOP:d1hu3a_	67	102	9e-13	SMART
PDB:4IUL\|B	70	102	3e-15	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000160132

SMART Domains

Protein: ENSMUSP00000124914
Gene: ENSMUSG00000005610

Domain	Start	End	E-Value	Type
low complexity region	8	25	N/A	INTRINSIC
low complexity region	61	69	N/A	INTRINSIC
Pfam:MIF4G	78	152	1.3e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000161051
AA Change: A608V

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000125375
Gene: ENSMUSG00000005610
AA Change: A608V

Domain	Start	End	E-Value	Type
low complexity region	8	25	N/A	INTRINSIC
low complexity region	61	69	N/A	INTRINSIC
MIF4G	78	308	2.08e-58	SMART
MA3	505	618	4.76e-35	SMART
low complexity region	634	646	N/A	INTRINSIC
low complexity region	682	704	N/A	INTRINSIC
low complexity region	760	771	N/A	INTRINSIC
eIF5C	775	861	5.43e-34	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000162415
AA Change: A646V

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000124551
Gene: ENSMUSG00000005610
AA Change: A646V

Domain	Start	End	E-Value	Type
low complexity region	8	25	N/A	INTRINSIC
low complexity region	61	69	N/A	INTRINSIC
MIF4G	78	308	2.08e-58	SMART
low complexity region	441	453	N/A	INTRINSIC
Blast:MIF4G	454	490	4e-14	BLAST
MA3	543	656	4.76e-35	SMART
low complexity region	672	684	N/A	INTRINSIC
low complexity region	720	742	N/A	INTRINSIC
low complexity region	798	809	N/A	INTRINSIC
eIF5C	813	899	5.43e-34	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000163014

SMART Domains

Protein: ENSMUSP00000123811
Gene: ENSMUSG00000005610

Domain	Start	End	E-Value	Type
low complexity region	25	36	N/A	INTRINSIC
Pfam:W2	52	122	2.2e-12	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

MGI Phenotype

FUNCTION: Translation initiation is mediated by specific recognition of the cap structure by eukaryotic translation initiation factor 4F (eIF4F), which is a cap binding protein complex that consists of three subunits: eIF4A, eIF4E and eIF4G. The protein encoded by this gene shares similarity with the C-terminal region of eIF4G, that contains the binding sites for eIF4A and eIF3; eIF4G in addition, contains a binding site for eIF4E at the N-terminus. Unlike eIF4G which supports cap-dependent and independent translation, this gene product functions as a general repressor of translation by forming translationally inactive complexes. Transgene expression of the apolipoprotein B mRNA-editing enzyme (APOBEC-1) causes extensive editing of this mRNA, which could contribute to the potent oncogenesis induced by overexpression of APOBEC-1. In vitro and in vivo studies in human indicate that translation of this mRNA initiates exclusively at a non-AUG (GUG) codon. This also appears to be true for mouse. Two alternatively spliced transcript variants that encode different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted null mutation fail to undergo gastrulation and die by E11.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	C	11: 109,976,521	Y237C	probably damaging	Het
Adam12	T	C	7: 133,919,832	S566G	probably benign	Het
Afdn	T	A	17: 13,804,008	C59S	probably damaging	Het
Apob	A	T	12: 8,011,183	I3222F	probably benign	Het
Cdyl	A	G	13: 35,858,239	D420G	probably benign	Het
Cela1	C	A	15: 100,683,013	A121S	possibly damaging	Het
Clip2	A	G	5: 134,500,109	M822T	probably benign	Het
Coq8a	G	A	1: 180,179,211	T84I	probably benign	Het
Dars2	G	A	1: 161,049,957	A390V	probably benign	Het
Dhx40	C	T	11: 86,770,230	M744I	probably benign	Het
Dnajc14	A	G	10: 128,806,820	I204V	probably benign	Het
Eftud2	A	C	11: 102,860,029	F322V	probably damaging	Het
Faim2	T	C	15: 99,521,216	T91A	probably benign	Het
Fam160a1	C	A	3: 85,672,258	R880L	probably benign	Het
Fancl	A	T	11: 26,468,847	I290F	possibly damaging	Het
Fermt3	A	T	19: 7,013,877	Y253N	possibly damaging	Het
Frem3	T	A	8: 80,690,773	S2036T	probably damaging	Het
Gm10330	A	T	12: 23,779,910	V90E	probably damaging	Het
Gm3147	T	C	5: 94,614,984	T60A	probably benign	Het
Gm6509	A	G	5: 94,624,058	T16A	probably benign	Het
Golga1	T	C	2: 39,024,243	E488G	probably benign	Het
Gpatch11	T	A	17: 78,841,017	L128Q	possibly damaging	Het
Hoxd9	A	G	2: 74,699,195	N265S	possibly damaging	Het
Igfn1	C	T	1: 135,959,782	V2515M	probably damaging	Het
Itga2b	A	G	11: 102,461,156	L505P	probably damaging	Het
Klrg2	A	G	6: 38,636,556	S171P	probably benign	Het
Lamtor5	A	G	3: 107,279,088	T58A	probably benign	Het
Lgr6	G	T	1: 134,987,479	C787*	probably null	Het
Madd	A	G	2: 91,175,710	F380S	probably damaging	Het
Magi1	A	T	6: 93,943,253	H127Q	possibly damaging	Het
Maml2	A	G	9: 13,620,576	E362G		Het
Mfsd7a	G	T	5: 108,441,998	P513T	probably benign	Het
Morc2b	C	T	17: 33,136,023	G925D	probably benign	Het
Nalcn	C	T	14: 123,281,111	R1672H	probably damaging	Het
Npsr1	A	G	9: 24,313,197	Y290C	possibly damaging	Het
Obox5	A	T	7: 15,757,952	E97D	probably damaging	Het
Parn	C	T	16: 13,664,655		probably null	Het
Pip4k2b	A	T	11: 97,722,446	N241K	probably damaging	Het
Pkn2	A	G	3: 142,810,748	V539A	probably benign	Het
Plpp7	A	T	2: 32,095,812	M1L	probably damaging	Het
Prtg	G	A	9: 72,809,647	S90N	probably benign	Het
Rgs7bp	G	A	13: 104,964,110	T219M	probably damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,579,917		probably benign	Het
Scgb1b20	G	A	7: 33,373,573	D69N	probably benign	Het
Setd2	A	G	9: 110,550,551	T1145A	probably damaging	Het
Tmem145	A	G	7: 25,309,740	Q359R	probably benign	Het
Trmt5	C	A	12: 73,282,674	D237Y	probably damaging	Het
Vmn1r169	A	T	7: 23,577,965	I261F	probably benign	Het
Vmn1r19	A	T	6: 57,405,337	I292F	unknown	Het
Vmn2r66	T	C	7: 85,011,956	D22G	probably benign	Het
Vwa3b	T	A	1: 37,157,453		probably null	Het
Wbp4	T	A	14: 79,476,913	D53V	probably benign	Het
Xpo1	A	G	11: 23,291,550	I866V	probably benign	Het
Zan	G	A	5: 137,463,992	P975L	unknown	Het
Zdhhc19	G	A	16: 32,497,694	R89Q	probably benign	Het
Zer1	G	A	2: 30,111,285	T69I	probably benign	Het
Zfp827	C	T	8: 79,060,400	T65I	probably damaging	Het
Zswim9	A	G	7: 13,261,057	F391S	probably damaging	Het

Other mutations in Eif4g2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01302:Eif4g2	APN	7	111074713	missense	possibly damaging	0.91
IGL01402:Eif4g2	APN	7	111077027	missense	possibly damaging	0.94
IGL02502:Eif4g2	APN	7	111081541	missense	probably damaging	0.98
IGL02538:Eif4g2	APN	7	111079316	missense	probably benign	0.03
IGL02717:Eif4g2	APN	7	111078113	missense	probably benign	0.45
R0547:Eif4g2	UTSW	7	111078293	missense	probably damaging	1.00
R0614:Eif4g2	UTSW	7	111077223	critical splice donor site	probably null
R1351:Eif4g2	UTSW	7	111074080	missense	probably damaging	1.00
R1764:Eif4g2	UTSW	7	111074487	missense	probably damaging	1.00
R2009:Eif4g2	UTSW	7	111074198	missense	probably benign	0.01
R2318:Eif4g2	UTSW	7	111073858	missense	possibly damaging	0.78
R2382:Eif4g2	UTSW	7	111075046	missense	probably benign	0.00
R2986:Eif4g2	UTSW	7	111078483	missense	probably damaging	0.99
R4012:Eif4g2	UTSW	7	111074151	missense	possibly damaging	0.86
R4592:Eif4g2	UTSW	7	111078302	missense	probably damaging	1.00
R4785:Eif4g2	UTSW	7	111076796	missense	probably damaging	0.99
R5037:Eif4g2	UTSW	7	111077032	missense	probably benign	0.03
R5627:Eif4g2	UTSW	7	111074239	missense	probably benign	0.32
R5988:Eif4g2	UTSW	7	111077230	missense	probably benign	0.11
R6229:Eif4g2	UTSW	7	111077713	splice site	probably null
R8122:Eif4g2	UTSW	7	111078553	missense	possibly damaging	0.93
R8218:Eif4g2	UTSW	7	111074432	missense	possibly damaging	0.62
R8711:Eif4g2	UTSW	7	111073920	missense	probably damaging	1.00
R8726:Eif4g2	UTSW	7	111077422	missense	probably damaging	1.00
R9156:Eif4g2	UTSW	7	111073762	missense
R9216:Eif4g2	UTSW	7	111074208	missense	probably benign	0.08
R9334:Eif4g2	UTSW	7	111074824	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- CCATTTAGTGTTAAGTCAGCTGGC -3'
(R):5'- GCCACAAGTGACAACTTCATGC -3'

Sequencing Primer
(F):5'- AAGTCAGCTGGCTCTTACCTGG -3'
(R):5'- TGACAACTTCATGCAGGTAGAAC -3'

Posted On

2022-03-25