Mutagenetix > Incidental Mutations

Incidental Mutation 'R7692:Eif3e'

593468

Institutional Source

Beutler Lab

Gene Symbol

Eif3e

Ensembl Gene

ENSMUSG00000022336

Gene Name

eukaryotic translation initiation factor 3, subunit E

Synonyms

Eif3s6, eIF3-p46, 48kDa, Int6, eIF3-p48

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.958) question?

Stock #

R7692 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43250058-43282719 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 43263246 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 271 (R271L)

Ref Sequence

ENSEMBL: ENSMUSP00000022960 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022960]

Predicted Effect

probably damaging
Transcript: ENSMUST00000022960
AA Change: R271L

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

SMART Domains

Protein: ENSMUSP00000022960
Gene: ENSMUSG00000022336
AA Change: R271L

Domain	Start	End	E-Value	Type
eIF3_N	5	138	4.88e-70	SMART
Blast:eIF3_N	157	193	2e-14	BLAST
Blast:PINT	218	251	7e-9	BLAST
Blast:PINT	284	315	3e-13	BLAST
PINT	327	411	8.17e-19	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26b	G	A	8: 43,520,795	T390I	probably benign	Het
Adgb	A	G	10: 10,411,712		probably null	Het
Ado	G	T	10: 67,548,435	Y113*	probably null	Het
Angptl1	A	G	1: 156,845,315	E237G	probably damaging	Het
Arid2	T	A	15: 96,356,697	Y141*	probably null	Het
Clvs1	T	C	4: 9,350,739	I183T	probably benign	Het
Dnah1	T	C	14: 31,292,338	K1817E	probably benign	Het
Eml6	A	G	11: 29,753,085	V1611A	probably damaging	Het
Enpp3	G	T	10: 24,784,841	Y634*	probably null	Het
Evi5l	C	T	8: 4,200,886	R394W	probably damaging	Het
Fcgr3	A	C	1: 171,054,092	F156V	probably damaging	Het
Fmo1	T	A	1: 162,833,833	T294S	probably benign	Het
Gabrb3	A	G	7: 57,816,455	Q339R	probably damaging	Het
Gen1	T	A	12: 11,242,166	T606S	probably benign	Het
Gfod1	T	C	13: 43,201,052	Q149R	probably benign	Het
Golm1	A	G	13: 59,640,257	V276A	probably benign	Het
Hc	C	A	2: 35,024,149	V849F	probably damaging	Het
Hectd4	T	C	5: 121,321,564	I832T	possibly damaging	Het
Hspa14	T	C	2: 3,496,606	D283G	probably damaging	Het
Lztfl1	C	T	9: 123,712,471	W94*	probably null	Het
Lzts3	T	C	2: 130,635,386	S381G	probably benign	Het
Mgat2	A	G	12: 69,184,670	Y6C	probably damaging	Het
Mrpl30	T	C	1: 37,895,358	I27T	probably benign	Het
Muc5b	A	T	7: 141,853,229	T1045S	unknown	Het
Nlrp4a	G	A	7: 26,449,265	R99Q	probably benign	Het
Olfr1450	A	G	19: 12,953,642	T18A	possibly damaging	Het
Olfr1510	T	C	14: 52,410,488	Y128C	probably damaging	Het
Phlpp1	T	C	1: 106,281,402	L495P	probably damaging	Het
Pla2g4d	T	C	2: 120,279,295	D178G	possibly damaging	Het
Prl5a1	C	G	13: 28,150,014	L167V	probably damaging	Het
Sardh	A	G	2: 27,197,639	V740A	probably benign	Het
Sbno1	T	G	5: 124,405,646	T277P	probably benign	Het
Slc2a1	T	C	4: 119,136,265	V433A	probably damaging	Het
Slc4a10	T	C	2: 62,303,964	V1008A	possibly damaging	Het
Smarcal1	T	G	1: 72,586,020	S109A	probably benign	Het
Speg	A	G	1: 75,401,190	D864G	probably benign	Het
Steap4	T	C	5: 7,976,976	I313T	probably benign	Het
Tab2	A	T	10: 7,911,105	D614E	probably damaging	Het
Tenm4	A	G	7: 96,895,403	K2246E	probably damaging	Het
Timm23	A	G	14: 32,180,563	S208P	probably damaging	Het
Tmem229a	C	A	6: 24,955,212	C181F	probably benign	Het
Ugdh	T	C	5: 65,417,615	Y356C	probably damaging	Het
Ugt2a1	A	G	5: 87,486,727	L7P	probably damaging	Het
Uhrf1	A	G	17: 56,312,905	D272G	possibly damaging	Het
Vmn1r206	T	A	13: 22,620,657	I127F	probably damaging	Het
Vmn2r106	T	C	17: 20,285,228	Y68C	possibly damaging	Het
Zfand6	G	A	7: 84,633,933	P72L	not run	Het

Other mutations in Eif3e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00765:Eif3e	APN	15	43278349	missense	probably benign	0.17
IGL02333:Eif3e	APN	15	43266137	missense	probably benign	0.37
IGL02669:Eif3e	APN	15	43282692	start codon destroyed	probably benign
IGL03119:Eif3e	APN	15	43265604	missense	probably benign
IGL03200:Eif3e	APN	15	43252261	missense	probably damaging	1.00
Verdugo	UTSW	15	43272289	missense	probably benign	0.29
R0152:Eif3e	UTSW	15	43252236	missense	possibly damaging	0.83
R1439:Eif3e	UTSW	15	43278428	splice site	probably benign
R1613:Eif3e	UTSW	15	43250224	missense	possibly damaging	0.81
R1997:Eif3e	UTSW	15	43265609	missense	probably damaging	1.00
R2221:Eif3e	UTSW	15	43251547	missense	possibly damaging	0.95
R3761:Eif3e	UTSW	15	43261084	missense	probably damaging	0.99
R4241:Eif3e	UTSW	15	43262690	missense	probably damaging	0.97
R4571:Eif3e	UTSW	15	43266162	missense	possibly damaging	0.74
R5061:Eif3e	UTSW	15	43252261	missense	probably damaging	1.00
R5227:Eif3e	UTSW	15	43251521	missense	probably benign	0.01
R5367:Eif3e	UTSW	15	43252304	missense	probably damaging	1.00
R5417:Eif3e	UTSW	15	43265521	missense	probably benign	0.00
R5497:Eif3e	UTSW	15	43270970	missense	probably damaging	0.98
R5928:Eif3e	UTSW	15	43275332	splice site	probably null
R6083:Eif3e	UTSW	15	43266144	missense	probably damaging	1.00
R6337:Eif3e	UTSW	15	43252296	missense	possibly damaging	0.95
R6964:Eif3e	UTSW	15	43272289	missense	probably benign	0.29
R7825:Eif3e	UTSW	15	43266271	splice site	probably null
R8034:Eif3e	UTSW	15	43272307	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- GCTCAGGGCTTGCTAATTTC -3'
(R):5'- GTCATCGGATTCTGCTGATTTTAC -3'

Sequencing Primer
(F):5'- AGGGCTTGCTAATTTCTCTCTAG -3'
(R):5'- GCTTACACTCTTAGGCTAAACGATG -3'

Posted On

2019-11-12