Mutagenetix > Incidental Mutation

Incidental Mutation 'R2010:Eif4e'

219435

Institutional Source

Beutler Lab

Gene Symbol

Eif4e

Ensembl Gene

ENSMUSG00000028156

Gene Name

eukaryotic translation initiation factor 4E

Synonyms

If4e, eIF-4E

MMRRC Submission

040019-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R2010 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

138231952-138265457 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 138261219 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 171 (T171I)

Ref Sequence

ENSEMBL: ENSMUSP00000143772 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029803] [ENSMUST00000196990] [ENSMUST00000200020] [ENSMUST00000200100] [ENSMUST00000200239]

AlphaFold

P63073

Predicted Effect

probably benign
Transcript: ENSMUST00000029803
AA Change: T203I

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000029803
Gene: ENSMUSG00000028156
AA Change: T203I

Domain	Start	End	E-Value	Type
low complexity region	3	23	N/A	INTRINSIC
Pfam:IF4E	38	199	8.7e-60	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000196990
AA Change: T118I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000143104
Gene: ENSMUSG00000028156
AA Change: T118I

Domain	Start	End	E-Value	Type
Pfam:IF4E	1	115	1.4e-38	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198252

Predicted Effect

probably benign
Transcript: ENSMUST00000200020

SMART Domains

Protein: ENSMUSP00000143690
Gene: ENSMUSG00000028156

Domain	Start	End	E-Value	Type
low complexity region	3	23	N/A	INTRINSIC
Pfam:IF4E	38	183	1.9e-53	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000200100
AA Change: T171I

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000143772
Gene: ENSMUSG00000028156
AA Change: T171I

Domain	Start	End	E-Value	Type
low complexity region	3	23	N/A	INTRINSIC
Pfam:IF4E	31	167	3.2e-40	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000200239

SMART Domains

Protein: ENSMUSP00000143481
Gene: ENSMUSG00000028156

Domain	Start	End	E-Value	Type
low complexity region	3	23	N/A	INTRINSIC
Pfam:IF4E	38	79	5.4e-9	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 92.6%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a component of the eukaryotic translation initiation factor 4F complex, which recognizes the 7-methylguanosine cap structure at the 5' end of messenger RNAs. The encoded protein aids in translation initiation by recruiting ribosomes to the 5'-cap structure. Association of this protein with the 4F complex is the rate-limiting step in translation initiation. This gene acts as a proto-oncogene, and its expression and activation is associated with transformation and tumorigenesis. It has also been associated with autism spectrum disorders. Consistently, knockout of this gene results in increased translation of neuroligins, postsynaptic proteins linked to autism spectrum disorders. Pseudogenes of this gene are found on other chromosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knock-in allele exhibit resistance to developing prostate intraepithelial neoplasia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810062G17Rik	G	A	3: 36,535,955 (GRCm39)	G74S	unknown	Het
Aimp1	A	T	3: 132,373,253 (GRCm39)	L229Q	probably benign	Het
Arhgef6	T	C	X: 56,344,865 (GRCm39)	T52A	possibly damaging	Het
Aste1	C	A	9: 105,280,701 (GRCm39)	H25Q	probably damaging	Het
Atp13a1	G	A	8: 70,244,010 (GRCm39)	G36R	possibly damaging	Het
Bahcc1	T	C	11: 120,163,604 (GRCm39)	V634A	probably damaging	Het
Bltp1	T	G	3: 36,982,700 (GRCm39)	N788K	probably benign	Het
C1s1	A	T	6: 124,514,353 (GRCm39)	Y168N	probably damaging	Het
Camsap2	T	C	1: 136,202,606 (GRCm39)	S612G	probably damaging	Het
Cdh23	C	A	10: 60,150,006 (GRCm39)	R2611L	probably damaging	Het
Cfap20dc	A	T	14: 8,511,021 (GRCm38)	F464L	probably damaging	Het
Cilp2	A	G	8: 70,334,344 (GRCm39)	Y885H	probably damaging	Het
Dhrs3	C	T	4: 144,653,758 (GRCm39)	T227I	possibly damaging	Het
Dnah2	A	T	11: 69,349,184 (GRCm39)		probably null	Het
Dnah3	T	G	7: 119,694,400 (GRCm39)	M1L	probably benign	Het
Ehbp1l1	A	G	19: 5,769,311 (GRCm39)	I664T	probably benign	Het
Elfn1	C	T	5: 139,959,071 (GRCm39)	R692W	probably damaging	Het
Eps8l3	T	A	3: 107,786,688 (GRCm39)	M1K	probably null	Het
Evi5	C	A	5: 107,961,411 (GRCm39)		probably null	Het
Fancd2	A	T	6: 113,570,252 (GRCm39)	D1401V	probably damaging	Het
Fat2	G	A	11: 55,144,653 (GRCm39)	R4074C	probably damaging	Het
Fkbp4	A	T	6: 128,412,765 (GRCm39)	V55E	probably benign	Het
Fnip1	A	G	11: 54,373,329 (GRCm39)	D180G	probably damaging	Het
Galc	A	G	12: 98,220,489 (GRCm39)	F126S	possibly damaging	Het
Gdf7	C	T	12: 8,351,729 (GRCm39)	V69M	unknown	Het
Glis2	A	G	16: 4,426,575 (GRCm39)	E22G	probably damaging	Het
H2bc3	G	A	13: 23,931,111 (GRCm39)	V112M	possibly damaging	Het
Hps4	T	A	5: 112,517,342 (GRCm39)	V243E	probably damaging	Het
Ighe	T	A	12: 113,235,108 (GRCm39)	I351F	unknown	Het
Irak4	A	T	15: 94,449,687 (GRCm39)	R55S	probably damaging	Het
Itpr2	G	A	6: 146,129,022 (GRCm39)		probably null	Het
Katnip	A	G	7: 125,472,128 (GRCm39)	I1544M	possibly damaging	Het
Kirrel3	T	C	9: 34,850,494 (GRCm39)	Y41H	probably damaging	Het
Krr1	A	G	10: 111,811,474 (GRCm39)	E56G	possibly damaging	Het
Lgi1	G	A	19: 38,289,683 (GRCm39)	V250I	probably damaging	Het
Lipf	A	G	19: 33,950,946 (GRCm39)	N306D	probably benign	Het
Lman2l	C	T	1: 36,484,262 (GRCm39)	W18*	probably null	Het
Lztfl1	T	A	9: 123,531,251 (GRCm39)	N239I	possibly damaging	Het
Mief1	T	C	15: 80,132,126 (GRCm39)	S66P	possibly damaging	Het
Mmp8	C	A	9: 7,567,535 (GRCm39)	S465*	probably null	Het
Muc2	A	T	7: 141,287,444 (GRCm39)	T208S	probably damaging	Het
Myh8	A	T	11: 67,187,990 (GRCm39)	K921*	probably null	Het
Myh9	T	C	15: 77,656,147 (GRCm39)	E1121G	probably benign	Het
Nbn	T	C	4: 15,969,393 (GRCm39)	S213P	probably damaging	Het
Nol10	A	G	12: 17,466,102 (GRCm39)	E499G	probably benign	Het
Nxn	T	C	11: 76,289,627 (GRCm39)	E87G	probably damaging	Het
Or14c40	A	G	7: 86,313,811 (GRCm39)	T314A	probably benign	Het
Or51f2	T	A	7: 102,526,892 (GRCm39)	C188*	probably null	Het
Or8g23	T	C	9: 38,971,395 (GRCm39)	H189R	probably benign	Het
Pds5b	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	5: 150,698,819 (GRCm39)		probably benign	Het
Pigk	A	G	3: 152,472,151 (GRCm39)	I354M	probably damaging	Het
Pigl	T	A	11: 62,349,508 (GRCm39)	C75S	probably damaging	Het
Pm20d1	T	A	1: 131,739,852 (GRCm39)	I400N	probably benign	Het
Prkg2	T	A	5: 99,172,664 (GRCm39)	H17L	probably benign	Het
Psmd1	T	A	1: 86,003,719 (GRCm39)	L168Q	probably damaging	Het
Rab3gap2	A	T	1: 185,010,478 (GRCm39)	H1136L	possibly damaging	Het
Rb1	T	C	14: 73,532,433 (GRCm39)	T134A	probably benign	Het
Rims1	T	C	1: 22,367,220 (GRCm39)	E1024G	probably damaging	Het
Rrp12	A	G	19: 41,861,376 (GRCm39)	V977A	probably benign	Het
Rusc2	C	T	4: 43,415,212 (GRCm39)	P173S	probably benign	Het
Selenov	A	T	7: 27,987,447 (GRCm39)	D310E	probably damaging	Het
Serpina3f	T	A	12: 104,183,582 (GRCm39)	L148Q	probably damaging	Het
Slc10a1	C	T	12: 81,007,221 (GRCm39)	V187I	probably benign	Het
Spsb2	A	G	6: 124,787,339 (GRCm39)	K258E	probably damaging	Het
Tas2r105	A	C	6: 131,664,365 (GRCm39)	V21G	probably benign	Het
Tmem229b-ps	T	A	10: 53,351,295 (GRCm39)		noncoding transcript	Het
Tnrc6a	C	G	7: 122,770,269 (GRCm39)	H686Q	probably benign	Het
Trpc2	T	A	7: 101,743,780 (GRCm39)	F715L	probably benign	Het
Ube2t	T	A	1: 134,897,036 (GRCm39)	I56N	probably benign	Het
Ubr4	T	C	4: 139,207,963 (GRCm39)	Y4915H	possibly damaging	Het
Usp32	T	A	11: 84,930,830 (GRCm39)	E533D	probably damaging	Het
Vipr2	T	G	12: 116,086,430 (GRCm39)		probably null	Het
Vmn1r15	A	G	6: 57,235,269 (GRCm39)	T46A	probably benign	Het
Vmn1r203	T	G	13: 22,708,617 (GRCm39)	S133A	possibly damaging	Het
Vmn1r215	T	G	13: 23,260,378 (GRCm39)	N139K	probably damaging	Het
Vmn1r232	C	T	17: 21,133,601 (GRCm39)	R333H	probably benign	Het
Wdr20rt	C	A	12: 65,273,988 (GRCm39)	H311N	possibly damaging	Het
Zranb1	T	C	7: 132,568,425 (GRCm39)		probably null	Het

Other mutations in Eif4e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01103:Eif4e	APN	3	138,253,412 (GRCm39)	splice site	probably benign
IGL03328:Eif4e	APN	3	138,259,488 (GRCm39)	intron	probably benign
R1398:Eif4e	UTSW	3	138,252,136 (GRCm39)	missense	probably damaging	0.99
R3925:Eif4e	UTSW	3	138,261,198 (GRCm39)	missense	probably damaging	1.00
R6026:Eif4e	UTSW	3	138,256,661 (GRCm39)	missense	probably damaging	1.00
R7038:Eif4e	UTSW	3	138,232,943 (GRCm39)	unclassified	probably benign
R8916:Eif4e	UTSW	3	138,256,043 (GRCm39)	intron	probably benign
R9111:Eif4e	UTSW	3	138,252,122 (GRCm39)	missense	probably benign	0.00
R9350:Eif4e	UTSW	3	138,259,470 (GRCm39)	missense	probably benign	0.01
R9414:Eif4e	UTSW	3	138,253,495 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGTGATTAAAGTCTGGCTGTGAAAG -3'
(R):5'- CTTAGCAACACTTGGATGGAATC -3'

Sequencing Primer
(F):5'- AACACATTTCGACTTGCATTGC -3'
(R):5'- GATGGAATCAACTTCAGTGCAGTCC -3'

Posted On

2014-08-25