Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03119:Eif3e'

409901

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Eif3e

Ensembl Gene

ENSMUSG00000022336

Gene Name

eukaryotic translation initiation factor 3, subunit E

Synonyms

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

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.960) question?

Stock #

IGL03119

Quality Score

Status

Chromosome

Chromosomal Location

43250058-43282719 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 43265604 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 207 (S207A)

Ref Sequence

ENSEMBL: ENSMUSP00000022960 (fasta)

Gene Model

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

AlphaFold

P60229

Predicted Effect

probably benign
Transcript: ENSMUST00000022960
AA Change: S207A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000022960
Gene: ENSMUSG00000022336
AA Change: S207A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226281

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226415

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228892

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	A	G	5: 8,714,887	T626A	probably benign	Het
Adcy1	C	T	11: 7,109,051	T319I	probably damaging	Het
Adgrv1	A	G	13: 81,382,373	S5861P	probably damaging	Het
Adgrv1	A	C	13: 81,433,700	C4742G	probably benign	Het
Arid5b	A	T	10: 68,243,227	D93E	probably damaging	Het
Atp6v1h	A	G	1: 5,095,669	T121A	probably benign	Het
Atxn7	C	T	14: 14,100,734	L807F	probably damaging	Het
Cep104	A	C	4: 153,981,724	K126N	probably damaging	Het
Dcaf6	T	C	1: 165,339,976	E708G	probably damaging	Het
Dst	A	G	1: 34,161,062	Y107C	probably damaging	Het
E2f3	A	G	13: 29,985,365	S102P	probably benign	Het
Etl4	A	G	2: 20,713,387	Y313C	probably damaging	Het
Fyttd1	T	C	16: 32,900,695	V121A	probably benign	Het
Gstk1	T	C	6: 42,249,899	S200P	probably damaging	Het
Ifrd1	A	T	12: 40,212,334	F244L	probably null	Het
Ints7	T	C	1: 191,610,365	V491A	probably damaging	Het
Kcnd2	G	T	6: 21,216,509	E71*	probably null	Het
Ltbp3	A	T	19: 5,757,443	Q1123L	probably damaging	Het
Myo5a	A	G	9: 75,174,015	T961A	probably benign	Het
Naa25	T	A	5: 121,434,978	V720E	probably null	Het
Olfr1480	T	C	19: 13,530,435	I298T	probably benign	Het
Olfr599	A	G	7: 103,338,722	I223V	probably damaging	Het
Pcdhb15	C	A	18: 37,475,014	T433N	probably damaging	Het
Peli1	T	C	11: 21,140,560		probably benign	Het
Ptbp1	T	C	10: 79,859,624	V209A	probably damaging	Het
Ranbp2	A	G	10: 58,452,003	Y31C	probably damaging	Het
Smg1	G	A	7: 118,195,113		probably benign	Het
Stat2	A	G	10: 128,283,517	M457V	probably benign	Het
Trpm6	G	T	19: 18,838,017	E1156*	probably null	Het
Usp53	T	A	3: 122,961,415	R130S	possibly damaging	Het
Vwa5b1	A	G	4: 138,606,541	S193P	probably benign	Het
Xrn2	A	G	2: 147,042,872	I626V	probably damaging	Het
Zfp574	G	A	7: 25,080,473	A307T	probably benign	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
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
R8034:Eif3e	UTSW	15	43272307	missense	probably benign	0.02

Posted On

2016-08-02