Incidental Mutation 'IGL03119:Eif3e'
ID409901
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eif3e
Ensembl Gene ENSMUSG00000022336
Gene Nameeukaryotic translation initiation factor 3, subunit E
SynonymsEif3s6, eIF3-p46, 48kDa, Int6, eIF3-p48
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.961) question?
Stock #IGL03119
Quality Score
Status
Chromosome15
Chromosomal Location43250058-43282719 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 43265604 bp
ZygosityHeterozygous
Amino Acid Change Serine to Alanine at position 207 (S207A)
Ref Sequence ENSEMBL: ENSMUSP00000022960 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022960]
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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 On2016-08-02