Mutagenetix > Incidental Mutation

Incidental Mutation 'R6964:Eif3e'

541908

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

045074-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

R6964 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43250058-43282719 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 43272289 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 118 (A118V)

Ref Sequence

ENSEMBL: ENSMUSP00000022960 (fasta)

Gene Model

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

AlphaFold

P60229

Predicted Effect

probably benign
Transcript: ENSMUST00000022960
AA Change: A118V

PolyPhen 2 Score 0.288 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000022960
Gene: ENSMUSG00000022336
AA Change: A118V

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

Meta Mutation Damage Score

0.0932

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630089N07Rik	A	T	16: 98,065,759	Y334*	probably null	Het
Abcc2	A	C	19: 43,798,076	I116L	probably benign	Het
Adamts17	T	A	7: 66,909,400	Y313N	possibly damaging	Het
Adamts17	A	G	7: 67,004,353	T444A	probably benign	Het
Adamtsl1	A	G	4: 86,156,854	I153V	probably damaging	Het
Ambra1	C	T	2: 91,917,416	Q1046*	probably null	Het
Ap1g2	A	T	14: 55,099,265	V750D	possibly damaging	Het
Bcl7a	T	C	5: 123,369,456		probably null	Het
C4bp	A	T	1: 130,657,272	L9Q	probably damaging	Het
Cadps2	A	C	6: 23,583,459	V344G	probably damaging	Het
Car7	A	G	8: 104,543,581	D15G	possibly damaging	Het
Cep126	G	C	9: 8,112,100	H157Q	probably null	Het
Chst11	C	T	10: 83,191,381	T214I	probably damaging	Het
Cntrob	G	A	11: 69,309,491	R526*	probably null	Het
Cul1	A	G	6: 47,516,509	T445A	probably benign	Het
Dclre1c	T	C	2: 3,453,169	V363A	possibly damaging	Het
Ddx58	A	G	4: 40,225,697	S235P	probably benign	Het
Dock10	T	A	1: 80,503,648		probably benign	Het
Donson	A	G	16: 91,681,219	Y465H	probably benign	Het
Fam47e	A	T	5: 92,566,052	Q180L	probably damaging	Het
Fat1	T	G	8: 45,043,945	C4156G	probably damaging	Het
Fermt2	A	T	14: 45,465,142	I441K	probably damaging	Het
Frmd4b	C	T	6: 97,305,197	R510Q	probably damaging	Het
Fscn1	C	T	5: 142,960,660	A71V	probably damaging	Het
Gfap	G	A	11: 102,896,957	A54V	possibly damaging	Het
Gjc3	C	T	5: 137,957,497	M175I	probably benign	Het
Gm10645	C	T	8: 83,165,952		probably benign	Het
Haus5	G	A	7: 30,657,615	P464S	probably benign	Het
Helz2	T	A	2: 181,230,428	I2584F	probably damaging	Het
Mak	T	A	13: 41,032,591	I534L	probably benign	Het
Map3k9	T	C	12: 81,773,003	D159G	probably benign	Het
Mcat	A	G	15: 83,547,931		probably benign	Het
Meltf	A	G	16: 31,880,162	D30G	probably benign	Het
Ntng2	T	A	2: 29,197,029	Y452F	probably benign	Het
Olfr1130	T	C	2: 87,607,613	L75P	probably damaging	Het
Olfr1245	T	A	2: 89,574,989	I246F	probably benign	Het
Olfr1474	T	A	19: 13,471,361	Y130*	probably null	Het
Olfr473	A	T	7: 107,933,759	I80L	probably benign	Het
Paip1	C	T	13: 119,450,770	T390I	possibly damaging	Het
Pianp	T	A	6: 124,999,390	V54D	possibly damaging	Het
Ptprn	T	C	1: 75,260,649	D103G	possibly damaging	Het
Rhcg	A	G	7: 79,600,531	V268A	probably benign	Het
Rhoj	T	A	12: 75,375,389	Y74N	probably damaging	Het
Snx13	A	C	12: 35,119,789	T578P	possibly damaging	Het
Star	T	A	8: 25,811,823	H227Q	probably benign	Het
Stau2	A	C	1: 16,390,005	M204R	probably damaging	Het
Steap4	A	G	5: 7,975,568	Y43C	probably damaging	Het
Syt8	A	G	7: 142,439,421	E21G	probably benign	Het
Tacr3	T	C	3: 134,829,739	V156A	probably damaging	Het
Tmem106b	C	T	6: 13,082,423	T199M	probably benign	Het
Tmem131	T	C	1: 36,796,292	T1583A	probably damaging	Het
Tom1	G	A	8: 75,051,965	V87I	probably null	Het
Treml4	G	T	17: 48,272,819		probably null	Het
Ttn	T	C	2: 76,714,113	K32843R	probably damaging	Het
Wdr95	T	G	5: 149,581,850	C223W	probably damaging	Het
Wipi1	C	T	11: 109,603,764	R81Q	probably benign	Het
Zc3h7a	G	A	16: 11,149,224	T568I	probably benign	Het
Zfp287	A	T	11: 62,724,817	I228N	probably damaging	Het
Zfp606	T	A	7: 12,489,592	V10E	probably damaging	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
R7692:Eif3e	UTSW	15	43263246	missense	probably damaging	0.98
R7825:Eif3e	UTSW	15	43266271	splice site	probably null
R8034:Eif3e	UTSW	15	43272307	missense	probably benign	0.02
R9463:Eif3e	UTSW	15	43275313	missense	probably benign
R9583:Eif3e	UTSW	15	43265561	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TTATGAGATATCACGGCTGAGG -3'
(R):5'- AACTTTGTGACGGGCATCTTC -3'

Sequencing Primer
(F):5'- TGCACAGCATTAGTCTCTA -3'
(R):5'- ACGGGCATCTTCTAAATTTGGTC -3'

Posted On

2018-11-28