Mutagenetix > Incidental Mutation

Incidental Mutation 'R4012:Eif4g2'

311748

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

040949-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4012 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

111067750-111083030 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 111074151 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 807 (L807Q)

Ref Sequence

ENSEMBL: ENSMUSP00000124551 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158323

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

possibly damaging
Transcript: ENSMUST00000161051
AA Change: L769Q

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000125375
Gene: ENSMUSG00000005610
AA Change: L769Q

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

possibly damaging
Transcript: ENSMUST00000162415
AA Change: L807Q

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000124551
Gene: ENSMUSG00000005610
AA Change: L807Q

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

possibly damaging
Transcript: ENSMUST00000163014
AA Change: L33Q

PolyPhen 2 Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000123811
Gene: ENSMUSG00000005610
AA Change: L33Q

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

Meta Mutation Damage Score

0.4362

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.0%

Validation Efficiency

100% (79/79)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700015F17Rik	A	C	5: 5,478,955	L20R	probably damaging	Het
2210016F16Rik	T	A	13: 58,381,986	K271*	probably null	Het
9930021J03Rik	T	G	19: 29,743,590	K622N	probably damaging	Het
Adnp2	G	T	18: 80,130,821	F124L	probably benign	Het
Aicda	A	G	6: 122,559,490	K10E	probably benign	Het
Als2	A	G	1: 59,187,416	C910R	probably benign	Het
Ankrd11	T	A	8: 122,892,417	K1565N	probably damaging	Het
Apol7b	T	C	15: 77,424,709	D63G	probably damaging	Het
Arhgef4	T	C	1: 34,725,106	C1148R	possibly damaging	Het
Atg16l1	A	G	1: 87,766,907	D102G	probably damaging	Het
Babam2	T	C	5: 32,001,438	V244A	probably damaging	Het
Cars	G	A	7: 143,559,674	A668V	possibly damaging	Het
Ccdc185	T	A	1: 182,748,888	S79C	possibly damaging	Het
Ccdc88b	G	C	19: 6,848,991	R1119G	probably damaging	Het
Cebpz	A	T	17: 78,924,467	V810E	probably damaging	Het
Cep120	T	C	18: 53,738,582	T73A	probably damaging	Het
Chat	C	A	14: 32,423,312	C380F	possibly damaging	Het
Cltc	T	C	11: 86,757,261	Q10R	probably benign	Het
Cst8	T	C	2: 148,804,702		probably benign	Het
Cts3	C	T	13: 61,568,054		probably null	Het
Cyp4a29	T	A	4: 115,248,510	D136E	probably benign	Het
Dmxl2	A	C	9: 54,379,013		probably null	Het
Dsg4	T	A	18: 20,451,862	V211E	possibly damaging	Het
Efcab5	C	T	11: 77,117,830	V957I	probably damaging	Het
Epha4	A	G	1: 77,390,094		probably benign	Het
Epm2aip1	A	T	9: 111,272,390	I144F	probably benign	Het
Erbb4	C	T	1: 68,560,576	R114H	probably damaging	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Fam170a	C	T	18: 50,281,971	A228V	probably damaging	Het
Foxred1	A	T	9: 35,206,275	M254K	possibly damaging	Het
Gm1527	T	A	3: 28,898,820	C90S	probably benign	Het
Gm16286	A	G	18: 80,212,124	D211G	probably benign	Het
Gm8251	T	C	1: 44,060,969	D323G	possibly damaging	Het
Gpr137b	T	C	13: 13,359,362	T370A	probably benign	Het
Gtf2e2	A	G	8: 33,755,965		probably benign	Het
Hgsnat	A	T	8: 25,955,789	L359*	probably null	Het
Hhip	A	T	8: 79,992,594	C435S	probably damaging	Het
Hoxa13	T	C	6: 52,259,127	D310G	possibly damaging	Het
Hspa14	T	C	2: 3,512,638	Y18C	probably damaging	Het
Ighg1	A	G	12: 113,329,650	V140A	probably damaging	Het
Ighv1-58	A	T	12: 115,312,310	Y69*	probably null	Het
Inpp5j	A	G	11: 3,500,185	F615L	probably benign	Het
Kcna1	T	A	6: 126,642,910	Y149F	probably benign	Het
Kcnj6	A	T	16: 94,825,018		probably null	Het
Krtap4-1	G	T	11: 99,627,811	C124*	probably null	Het
Lama1	T	A	17: 67,812,373	L2615*	probably null	Het
Lcp2	A	T	11: 34,068,439	I72F	probably damaging	Het
Med1	T	A	11: 98,171,706	I189F	possibly damaging	Het
Meioc	C	T	11: 102,675,828	R757C	probably damaging	Het
Mtr	T	A	13: 12,189,397	H1171L	probably damaging	Het
Mtr	G	C	13: 12,189,398	H1171D	probably damaging	Het
Nlrc5	A	G	8: 94,475,992	Y240C	possibly damaging	Het
Nsun4	T	A	4: 116,051,062	H767L	possibly damaging	Het
Pcdha1	T	A	18: 36,931,136	N284K	probably benign	Het
Pcdhgb8	A	C	18: 37,763,361	S495R	probably benign	Het
Pramel1	T	A	4: 143,396,690	I79N	possibly damaging	Het
Prdm6	A	T	18: 53,540,318	E183D	possibly damaging	Het
Prex2	T	C	1: 11,184,516	F1125L	probably benign	Het
Prkg2	T	C	5: 98,979,815	I346V	possibly damaging	Het
Ptprz1	A	G	6: 23,002,585	D1558G	probably damaging	Het
Rab11fip3	GCTCGTCT	GCT	17: 26,068,028		probably null	Het
Rin2	C	T	2: 145,860,446	T354I	probably benign	Het
S100a6	A	G	3: 90,614,201	D50G	probably damaging	Het
Shroom3	T	A	5: 92,948,483		probably benign	Het
Sipa1l1	G	A	12: 82,341,782	V261M	possibly damaging	Het
Slc5a4b	T	A	10: 76,074,992	I337F	probably damaging	Het
Smarcc1	A	G	9: 110,132,205	Y30C	possibly damaging	Het
Swap70	A	G	7: 110,281,305	K576E	possibly damaging	Het
Syt6	A	G	3: 103,625,493		probably benign	Het
Szt2	T	C	4: 118,383,900	I1726V	probably benign	Het
Tdgf1	C	T	9: 110,940,713	M169I	probably benign	Het
Thoc1	A	G	18: 9,987,651	K453E	possibly damaging	Het
Tmem38b	A	G	4: 53,854,409	I214V	probably benign	Het
Tonsl	A	T	15: 76,637,044	I354N	probably damaging	Het
Trappc9	T	C	15: 73,031,623	I303V	possibly damaging	Het
Trim66	A	G	7: 109,458,131	S1032P	probably damaging	Het
Tsc22d4	T	C	5: 137,758,328	V6A	probably benign	Het
Ubtd2	A	G	11: 32,499,260	K36E	probably benign	Het
Zkscan2	T	C	7: 123,498,660	E171G	possibly 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
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
R9277:Eif4g2	UTSW	7	111074859	missense	probably damaging	0.98
R9334:Eif4g2	UTSW	7	111074824	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- AAAGCCTTGCCTTTTCCTGG -3'
(R):5'- GATGAGTAGTTCATTTGCCAGAAG -3'

Sequencing Primer
(F):5'- GTCTTCCTTCCAAGCTAAGAAAG -3'
(R):5'- AGTTCATTTGCCAGAAGTCTAATAAC -3'

Posted On

2015-04-29