Mutagenetix > Incidental Mutations

Incidental Mutation 'R0614:Eif4g2'

54946

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

MMRRC Submission

038803-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0614 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

111067750-111083030 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 111077223 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000124551 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000159305] [ENSMUST00000160132] [ENSMUST00000160966] [ENSMUST00000161051] [ENSMUST00000161051] [ENSMUST00000162415] [ENSMUST00000162415]

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158323

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

noncoding transcript
Transcript: ENSMUST00000159465

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

noncoding transcript
Transcript: ENSMUST00000160552

Predicted Effect

probably benign
Transcript: ENSMUST00000160966

Predicted Effect

probably null
Transcript: ENSMUST00000161051

SMART Domains

Protein: ENSMUSP00000125375
Gene: ENSMUSG00000005610

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 null
Transcript: ENSMUST00000161051

SMART Domains

Protein: ENSMUSP00000125375
Gene: ENSMUSG00000005610

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

noncoding transcript
Transcript: ENSMUST00000161079

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161158

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161682

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161736

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161790

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162394

Predicted Effect

probably null
Transcript: ENSMUST00000162415

SMART Domains

Protein: ENSMUSP00000124551
Gene: ENSMUSG00000005610

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 null
Transcript: ENSMUST00000162415

SMART Domains

Protein: ENSMUSP00000124551
Gene: ENSMUSG00000005610

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: 99.4%
3x: 98.9%
10x: 97.4%
20x: 94.9%

Validation Efficiency

97% (61/63)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	C	T	13: 77,192,663	T137I	probably benign	Het
3110082I17Rik	C	T	5: 139,364,031	V88I	possibly damaging	Het
4930453N24Rik	T	A	16: 64,766,614	Q249L	probably damaging	Het
Akap2	C	A	4: 57,856,720	A926E	probably benign	Het
Ap1g2	C	T	14: 55,099,773	V702I	probably benign	Het
Armcx5	G	A	X: 135,746,815	E547K	probably damaging	Het
Asah2	C	A	19: 32,016,728	V406L	probably damaging	Het
Atp8b1	T	C	18: 64,533,587		probably benign	Het
Axl	C	A	7: 25,774,163	R346L	probably benign	Het
Baz1a	G	A	12: 54,941,519	R282*	probably null	Het
Card14	A	G	11: 119,322,827	N200S	probably benign	Het
Cdt1	A	G	8: 122,568,137	T28A	probably benign	Het
Cep250	C	T	2: 155,970,097	Q438*	probably null	Het
Dapk1	C	A	13: 60,718,132	P181Q	probably damaging	Het
Dnah17	C	T	11: 118,070,568		probably benign	Het
Dph7	T	C	2: 24,968,956		probably null	Het
Edc4	A	T	8: 105,889,396	D801V	possibly damaging	Het
Eml2	T	C	7: 19,202,591	L531P	probably damaging	Het
Ephb2	T	C	4: 136,673,365	Y533C	probably benign	Het
Fcho1	C	T	8: 71,712,560	A418T	probably benign	Het
Fsip2	A	G	2: 82,977,533	K1399E	probably benign	Het
Hcls1	A	G	16: 36,962,625	D446G	probably damaging	Het
Hif1a	T	A	12: 73,945,631	N787K	probably damaging	Het
Ints14	T	C	9: 64,964,433	S18P	probably benign	Het
Kalrn	A	T	16: 33,993,670		probably benign	Het
Llgl2	T	A	11: 115,850,267	D502E	probably damaging	Het
Lrwd1	A	G	5: 136,123,500	V570A	probably damaging	Het
Mga	C	G	2: 119,964,466	P2877R	probably damaging	Het
Mvd	T	C	8: 122,436,553	I313V	probably benign	Het
Myo15b	C	A	11: 115,882,913	P270T	probably damaging	Het
Naip1	C	A	13: 100,444,200	V180L	probably benign	Het
Ofd1	T	C	X: 166,435,540		probably benign	Het
Olfr1233	T	A	2: 89,339,985	I106F	probably damaging	Het
Olfr1423	A	T	19: 12,036,565	M59K	possibly damaging	Het
Olfr348	T	A	2: 36,786,693	L56H	probably damaging	Het
Otogl	G	A	10: 107,798,355	P1420S	probably benign	Het
Pcnt	C	T	10: 76,420,316	V697M	probably damaging	Het
Plekha7	A	T	7: 116,154,645	Y702*	probably null	Het
Plxnb3	A	G	X: 73,764,358		probably benign	Het
Ptgis	A	G	2: 167,206,882	F405L	probably damaging	Het
Ptprk	C	T	10: 28,075,136	P19L	probably damaging	Het
Ptprt	A	G	2: 161,812,120	V530A	possibly damaging	Het
Rasgrp4	A	T	7: 29,145,851	Y299F	probably damaging	Het
Slc39a11	T	A	11: 113,523,626		probably null	Het
Slc6a15	T	A	10: 103,404,352	L312*	probably null	Het
Slf1	T	A	13: 77,049,114	M794L	probably benign	Het
Sntg2	G	A	12: 30,257,978	T236I	possibly damaging	Het
Stau1	T	C	2: 166,950,806	Y413C	probably damaging	Het
Syne2	T	G	12: 75,912,353		probably null	Het
Tas2r104	A	T	6: 131,685,202	N181K	probably damaging	Het
Tmem81	G	A	1: 132,507,731	V92I	probably benign	Het
Trap1	A	G	16: 4,060,751		probably benign	Het
Trip12	T	C	1: 84,757,761	E905G	probably damaging	Het
Usp2	C	T	9: 44,092,492	R494*	probably null	Het
Vps13a	G	T	19: 16,652,694	R2692S	probably damaging	Het
Zfhx3	T	C	8: 108,948,539	S2074P	probably benign	Het
Zfhx3	C	G	8: 108,948,967	Y2216*	probably null	Het
Zfp423	A	G	8: 87,782,114	F409S	probably damaging	Het
Zfp472	G	A	17: 32,977,934	E328K	possibly damaging	Het
Zfp619	T	A	7: 39,537,675	M1043K	possibly damaging	Het
Zfp940	T	C	7: 29,846,246	I79V	probably benign	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
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	unclassified	probably null

Predicted Primers

PCR Primer
(F):5'- GAAGAAGTCATTCCTCCCTTGAGCC -3'
(R):5'- TGCCAGCCAGGATTCGTTTCCTAC -3'

Sequencing Primer
(F):5'- TCCCTTGAGCCATAGGAGC -3'
(R):5'- TGCAGGTAAGATGGTTTTTACAG -3'

Posted On

2013-07-11