Incidental Mutation 'IGL02333:Eif3e'
ID288783
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: 0.952) question?
Stock #IGL02333
Quality Score
Status
Chromosome15
Chromosomal Location43250058-43282719 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 43266137 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 198 (N198K)
Ref Sequence ENSEMBL: ENSMUSP00000022960 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022960]
Predicted Effect probably benign
Transcript: ENSMUST00000022960
AA Change: N198K

PolyPhen 2 Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000022960
Gene: ENSMUSG00000022336
AA Change: N198K

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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace G A 11: 105,971,447 V276I probably benign Het
Acss2 T A 2: 155,555,884 W289R probably damaging Het
Alpk2 A G 18: 65,349,480 S19P probably damaging Het
Ano3 T C 2: 110,697,199 probably benign Het
Atxn1 G A 13: 45,567,204 S405F probably damaging Het
Atxn2 A G 5: 121,781,387 Y386C probably damaging Het
Bach2 T A 4: 32,575,334 L643* probably null Het
Ccl22 T A 8: 94,749,879 L91Q probably damaging Het
Cdc40 A G 10: 40,867,859 Y81H probably benign Het
Col5a3 C A 9: 20,799,306 R549M unknown Het
Emp2 A G 16: 10,284,511 Y146H probably damaging Het
Impg1 G A 9: 80,440,755 L66F possibly damaging Het
Itsn1 A G 16: 91,820,676 probably benign Het
Khdrbs3 T C 15: 69,049,394 Y187H probably damaging Het
Klhdc7a T A 4: 139,967,156 H160L probably benign Het
Klhl2 G A 8: 64,759,750 R252W probably damaging Het
Krba1 C T 6: 48,413,087 T595I probably damaging Het
Myo9b G T 8: 71,358,993 D1887Y possibly damaging Het
Olfm4 C T 14: 80,021,770 T453I probably damaging Het
Sin3a A G 9: 57,107,559 N688S possibly damaging Het
Slc47a1 A G 11: 61,370,124 V150A probably damaging Het
Sptbn4 A G 7: 27,364,299 L2234P probably damaging Het
Trpm4 C T 7: 45,322,115 V166M possibly damaging Het
Usp54 A T 14: 20,589,395 F156L probably damaging Het
Vmn2r32 A T 7: 7,464,144 F795Y probably damaging Het
Other mutations in Eif3e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00765:Eif3e APN 15 43278349 missense probably benign 0.17
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
R8034:Eif3e UTSW 15 43272307 missense probably benign 0.02
Posted On2015-04-16