Mutagenetix > Incidental Mutation

Incidental Mutation 'R8034:Eif3e'

618148

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: 0.963) question?

Stock #

R8034 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43250058-43282719 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43272307 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 112 (M112K)

Ref Sequence

ENSEMBL: ENSMUSP00000022960 (fasta)

Gene Model

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

AlphaFold

P60229

Predicted Effect

probably benign
Transcript: ENSMUST00000022960
AA Change: M112K

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000022960
Gene: ENSMUSG00000022336
AA Change: M112K

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: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap1	A	G	7: 101,394,773	T680A	probably damaging	Het
Asb3	C	A	11: 31,081,554	Y391*	probably null	Het
BC067074	A	T	13: 113,342,511	I1530F		Het
Bean1	CT	C	8: 104,182,032		probably null	Het
C130026I21Rik	T	A	1: 85,254,160	T180S	probably benign	Het
Ccdc80	A	G	16: 45,122,875	I783V	probably damaging	Het
Ccnf	A	G	17: 24,231,831	V391A	probably damaging	Het
Cd5l	C	A	3: 87,365,964	A80E	possibly damaging	Het
Chmp2b	A	T	16: 65,546,883	M96K	probably benign	Het
Dennd4a	T	C	9: 64,888,568	S725P	probably benign	Het
Dnah6	T	C	6: 73,129,225	N1843S	probably damaging	Het
Dpy19l3	A	G	7: 35,749,856	F41L	probably benign	Het
Faim	T	C	9: 98,992,733	V111A	possibly damaging	Het
Fat1	A	G	8: 44,951,691	E493G	probably benign	Het
Fsip2	A	G	2: 82,989,355	D5144G	possibly damaging	Het
Fuz	T	C	7: 44,896,260	M1T	probably null	Het
Ggcx	T	C	6: 72,428,604	V529A	possibly damaging	Het
Gm7145	A	T	1: 117,986,164	T259S	probably benign	Het
Gria2	T	G	3: 80,801,699	T59P	probably damaging	Het
H2-Q10	A	T	17: 35,470,441	I47F	probably damaging	Het
Heatr6	A	G	11: 83,753,909	N63D	probably benign	Het
Ints7	CCGGATCG	CCGGATCGGATCG	1: 191,613,068		probably null	Het
Ints7	GATCG	GATCGTATCG	1: 191,613,071		probably null	Het
Lcn6	T	A	2: 25,676,871	L19*	probably null	Het
Lhcgr	T	C	17: 88,742,356	T581A	probably damaging	Het
Map4k1	T	C	7: 28,988,148	I203T	probably damaging	Het
Mctp1	G	C	13: 76,891,551	L783F	probably damaging	Het
Mlf1	A	T	3: 67,384,588	M29L	probably damaging	Het
Npas3	T	A	12: 53,640,529	I159N	probably damaging	Het
Nup98	T	C	7: 102,145,723		probably null	Het
Olfr1238	A	G	2: 89,406,737	V114A	probably benign	Het
Olfr1464-ps1	A	G	19: 13,282,851	F69S	probably damaging	Het
Olfr572	A	T	7: 102,928,566	K313*	probably null	Het
Olfr734	T	C	14: 50,320,566	K90E	probably damaging	Het
Olfr867	A	G	9: 20,055,005	F35L	probably benign	Het
Olfr890	T	C	9: 38,143,677	Y176H	probably damaging	Het
Otud3	T	C	4: 138,895,800	S377G	probably benign	Het
Pclo	T	A	5: 14,521,200	S200T	probably damaging	Het
Pex6	G	C	17: 46,722,399	G616A	possibly damaging	Het
Pkhd1	T	A	1: 20,381,438	H2211L	possibly damaging	Het
Sec13	T	C	6: 113,735,089	K95R	probably benign	Het
Sema3c	T	C	5: 17,727,482	V661A	probably damaging	Het
Sema5a	A	G	15: 32,574,841	Y365C	probably damaging	Het
Sprr2h	A	T	3: 92,386,813	E61V	unknown	Het
Tead3	A	C	17: 28,333,229	V365G	probably damaging	Het
Trpm7	T	A	2: 126,846,199	N236I	probably damaging	Het
Ubxn2b	A	G	4: 6,191,167	E13G	probably benign	Het
Zfp639	C	A	3: 32,520,066	A280E	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
R6964:Eif3e	UTSW	15	43272289	missense	probably benign	0.29
R7692:Eif3e	UTSW	15	43263246	missense	probably damaging	0.98
R7825:Eif3e	UTSW	15	43266271	splice site	probably null
R9463:Eif3e	UTSW	15	43275313	missense	probably benign
R9583:Eif3e	UTSW	15	43265561	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- GATTATGAGATATCACGGCTGAGG -3'
(R):5'- ACTTTGTGACGGGCATCTTC -3'

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

Posted On

2020-01-23