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

110667192-110682237 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 110673358 bp (GRCm39)

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

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161736

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161790

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161682

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
Adnp2	G	T	18: 80,174,036 (GRCm39)	F124L	probably benign	Het
Aicda	A	G	6: 122,536,449 (GRCm39)	K10E	probably benign	Het
Als2	A	G	1: 59,226,575 (GRCm39)	C910R	probably benign	Het
Ankrd11	T	A	8: 123,619,156 (GRCm39)	K1565N	probably damaging	Het
Apol7b	T	C	15: 77,308,909 (GRCm39)	D63G	probably damaging	Het
Arhgef4	T	C	1: 34,764,187 (GRCm39)	C1148R	possibly damaging	Het
Atg16l1	A	G	1: 87,694,629 (GRCm39)	D102G	probably damaging	Het
Babam2	T	C	5: 32,158,782 (GRCm39)	V244A	probably damaging	Het
Brd10	T	G	19: 29,720,990 (GRCm39)	K622N	probably damaging	Het
Cars1	G	A	7: 143,113,411 (GRCm39)	A668V	possibly damaging	Het
Ccdc168	T	C	1: 44,100,129 (GRCm39)	D323G	possibly damaging	Het
Ccdc185	T	A	1: 182,576,453 (GRCm39)	S79C	possibly damaging	Het
Ccdc88b	G	C	19: 6,826,359 (GRCm39)	R1119G	probably damaging	Het
Cebpz	A	T	17: 79,231,896 (GRCm39)	V810E	probably damaging	Het
Cep120	T	C	18: 53,871,654 (GRCm39)	T73A	probably damaging	Het
Chat	C	A	14: 32,145,269 (GRCm39)	C380F	possibly damaging	Het
Cltc	T	C	11: 86,648,087 (GRCm39)	Q10R	probably benign	Het
Cripto	C	T	9: 110,769,781 (GRCm39)	M169I	probably benign	Het
Cst8	T	C	2: 148,646,622 (GRCm39)		probably benign	Het
Cts3	C	T	13: 61,715,868 (GRCm39)		probably null	Het
Cyp4a29	T	A	4: 115,105,707 (GRCm39)	D136E	probably benign	Het
Dmxl2	A	C	9: 54,286,297 (GRCm39)		probably null	Het
Dsg4	T	A	18: 20,584,919 (GRCm39)	V211E	possibly damaging	Het
Efcab5	C	T	11: 77,008,656 (GRCm39)	V957I	probably damaging	Het
Epha4	A	G	1: 77,366,731 (GRCm39)		probably benign	Het
Epm2aip1	A	T	9: 111,101,458 (GRCm39)	I144F	probably benign	Het
Erbb4	C	T	1: 68,599,735 (GRCm39)	R114H	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fam170a	C	T	18: 50,415,038 (GRCm39)	A228V	probably damaging	Het
Foxred1	A	T	9: 35,117,571 (GRCm39)	M254K	possibly damaging	Het
Gm1527	T	A	3: 28,952,969 (GRCm39)	C90S	probably benign	Het
Gpr137b	T	C	13: 13,533,947 (GRCm39)	T370A	probably benign	Het
Gtf2e2	A	G	8: 34,245,993 (GRCm39)		probably benign	Het
Hgsnat	A	T	8: 26,445,817 (GRCm39)	L359*	probably null	Het
Hhip	A	T	8: 80,719,223 (GRCm39)	C435S	probably damaging	Het
Hoxa13	T	C	6: 52,236,107 (GRCm39)	D310G	possibly damaging	Het
Hspa14	T	C	2: 3,513,675 (GRCm39)	Y18C	probably damaging	Het
Ighg1	A	G	12: 113,293,270 (GRCm39)	V140A	probably damaging	Het
Ighv1-58	A	T	12: 115,275,930 (GRCm39)	Y69*	probably null	Het
Inpp5j	A	G	11: 3,450,185 (GRCm39)	F615L	probably benign	Het
Kcna1	T	A	6: 126,619,873 (GRCm39)	Y149F	probably benign	Het
Kcnj6	A	T	16: 94,625,877 (GRCm39)		probably null	Het
Krtap4-1	G	T	11: 99,518,637 (GRCm39)	C124*	probably null	Het
Lama1	T	A	17: 68,119,368 (GRCm39)	L2615*	probably null	Het
Lcp2	A	T	11: 34,018,439 (GRCm39)	I72F	probably damaging	Het
Med1	T	A	11: 98,062,532 (GRCm39)	I189F	possibly damaging	Het
Meioc	C	T	11: 102,566,654 (GRCm39)	R757C	probably damaging	Het
Mtr	T	A	13: 12,204,283 (GRCm39)	H1171L	probably damaging	Het
Mtr	G	C	13: 12,204,284 (GRCm39)	H1171D	probably damaging	Het
Naa12	A	G	18: 80,255,339 (GRCm39)	D211G	probably benign	Het
Nlrc5	A	G	8: 95,202,620 (GRCm39)	Y240C	possibly damaging	Het
Nsun4	T	A	4: 115,908,259 (GRCm39)	H767L	possibly damaging	Het
Pcdha1	T	A	18: 37,064,189 (GRCm39)	N284K	probably benign	Het
Pcdhgb8	A	C	18: 37,896,414 (GRCm39)	S495R	probably benign	Het
Pramel1	T	A	4: 143,123,260 (GRCm39)	I79N	possibly damaging	Het
Prdm6	A	T	18: 53,673,390 (GRCm39)	E183D	possibly damaging	Het
Prex2	T	C	1: 11,254,740 (GRCm39)	F1125L	probably benign	Het
Prkg2	T	C	5: 99,127,674 (GRCm39)	I346V	possibly damaging	Het
Ptprz1	A	G	6: 23,002,584 (GRCm39)	D1558G	probably damaging	Het
Pttg1ip2	A	C	5: 5,528,955 (GRCm39)	L20R	probably damaging	Het
Qng1	T	A	13: 58,529,800 (GRCm39)	K271*	probably null	Het
Rab11fip3	GCTCGTCT	GCT	17: 26,287,002 (GRCm39)		probably null	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
S100a6	A	G	3: 90,521,508 (GRCm39)	D50G	probably damaging	Het
Shroom3	T	A	5: 93,096,342 (GRCm39)		probably benign	Het
Sipa1l1	G	A	12: 82,388,556 (GRCm39)	V261M	possibly damaging	Het
Slc5a4b	T	A	10: 75,910,826 (GRCm39)	I337F	probably damaging	Het
Smarcc1	A	G	9: 109,961,273 (GRCm39)	Y30C	possibly damaging	Het
Swap70	A	G	7: 109,880,512 (GRCm39)	K576E	possibly damaging	Het
Syt6	A	G	3: 103,532,809 (GRCm39)		probably benign	Het
Szt2	T	C	4: 118,241,097 (GRCm39)	I1726V	probably benign	Het
Thoc1	A	G	18: 9,987,651 (GRCm39)	K453E	possibly damaging	Het
Tmem38b	A	G	4: 53,854,409 (GRCm39)	I214V	probably benign	Het
Tonsl	A	T	15: 76,521,244 (GRCm39)	I354N	probably damaging	Het
Trappc9	T	C	15: 72,903,472 (GRCm39)	I303V	possibly damaging	Het
Trim66	A	G	7: 109,057,338 (GRCm39)	S1032P	probably damaging	Het
Tsc22d4	T	C	5: 137,756,590 (GRCm39)	V6A	probably benign	Het
Ubtd2	A	G	11: 32,449,260 (GRCm39)	K36E	probably benign	Het
Zkscan2	T	C	7: 123,097,883 (GRCm39)	E171G	possibly damaging	Het

Other mutations in Eif4g2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01302:Eif4g2	APN	7	110,673,920 (GRCm39)	missense	possibly damaging	0.91
IGL01402:Eif4g2	APN	7	110,676,234 (GRCm39)	missense	possibly damaging	0.94
IGL02502:Eif4g2	APN	7	110,680,748 (GRCm39)	missense	probably damaging	0.98
IGL02538:Eif4g2	APN	7	110,678,523 (GRCm39)	missense	probably benign	0.03
IGL02717:Eif4g2	APN	7	110,677,320 (GRCm39)	missense	probably benign	0.45
R0547:Eif4g2	UTSW	7	110,677,500 (GRCm39)	missense	probably damaging	1.00
R0614:Eif4g2	UTSW	7	110,676,430 (GRCm39)	critical splice donor site	probably null
R1351:Eif4g2	UTSW	7	110,673,287 (GRCm39)	missense	probably damaging	1.00
R1764:Eif4g2	UTSW	7	110,673,694 (GRCm39)	missense	probably damaging	1.00
R2009:Eif4g2	UTSW	7	110,673,405 (GRCm39)	missense	probably benign	0.01
R2318:Eif4g2	UTSW	7	110,673,065 (GRCm39)	missense	possibly damaging	0.78
R2382:Eif4g2	UTSW	7	110,674,253 (GRCm39)	missense	probably benign	0.00
R2986:Eif4g2	UTSW	7	110,677,690 (GRCm39)	missense	probably damaging	0.99
R4592:Eif4g2	UTSW	7	110,677,509 (GRCm39)	missense	probably damaging	1.00
R4785:Eif4g2	UTSW	7	110,676,003 (GRCm39)	missense	probably damaging	0.99
R5037:Eif4g2	UTSW	7	110,676,239 (GRCm39)	missense	probably benign	0.03
R5627:Eif4g2	UTSW	7	110,673,446 (GRCm39)	missense	probably benign	0.32
R5988:Eif4g2	UTSW	7	110,676,437 (GRCm39)	missense	probably benign	0.11
R6229:Eif4g2	UTSW	7	110,676,920 (GRCm39)	splice site	probably null
R8122:Eif4g2	UTSW	7	110,677,760 (GRCm39)	missense	possibly damaging	0.93
R8218:Eif4g2	UTSW	7	110,673,639 (GRCm39)	missense	possibly damaging	0.62
R8711:Eif4g2	UTSW	7	110,673,127 (GRCm39)	missense	probably damaging	1.00
R8726:Eif4g2	UTSW	7	110,676,629 (GRCm39)	missense	probably damaging	1.00
R9156:Eif4g2	UTSW	7	110,672,969 (GRCm39)	missense
R9216:Eif4g2	UTSW	7	110,673,415 (GRCm39)	missense	probably benign	0.08
R9277:Eif4g2	UTSW	7	110,674,066 (GRCm39)	missense	probably damaging	0.98
R9334:Eif4g2	UTSW	7	110,674,031 (GRCm39)	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