Incidental Mutation 'R5061:Eif3e'
ID 386644
Institutional Source Beutler Lab
Gene Symbol Eif3e
Ensembl Gene ENSMUSG00000022336
Gene Name eukaryotic translation initiation factor 3, subunit E
Synonyms Eif3s6, Int6, eIF3-p48, eIF3-p46, 48kDa
MMRRC Submission 042651-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.957) question?
Stock # R5061 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 43113454-43146115 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 43115657 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 370 (W370R)
Ref Sequence ENSEMBL: ENSMUSP00000022960 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022960]
AlphaFold P60229
Predicted Effect probably damaging
Transcript: ENSMUST00000022960
AA Change: W370R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022960
Gene: ENSMUSG00000022336
AA Change: W370R

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: ENSMUST00000228892
Meta Mutation Damage Score 0.9745 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.7%
Validation Efficiency 100% (71/71)
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700009N14Rik A G 4: 39,450,953 (GRCm39) H53R probably benign Het
Abcg1 A G 17: 31,311,366 (GRCm39) K124E probably damaging Het
Acot4 G T 12: 84,085,475 (GRCm39) R64L probably benign Het
Adam22 G C 5: 8,230,238 (GRCm39) probably benign Het
Add2 G A 6: 86,064,029 (GRCm39) probably null Het
Adgrb3 G A 1: 25,107,209 (GRCm39) probably benign Het
Akap8l T G 17: 32,551,868 (GRCm39) K441T probably damaging Het
Aspn T A 13: 49,720,080 (GRCm39) S365R probably damaging Het
Atxn1 T G 13: 45,710,569 (GRCm39) K788Q probably damaging Het
Atxn2l G T 7: 126,099,375 (GRCm39) H135N probably damaging Het
Borcs8 T G 8: 70,593,008 (GRCm39) probably null Het
Col5a1 G A 2: 27,842,390 (GRCm39) D422N unknown Het
Cstad A T 2: 30,498,275 (GRCm39) T37S unknown Het
Dgkq A T 5: 108,801,989 (GRCm39) D455E probably benign Het
Dop1a T C 9: 86,385,161 (GRCm39) probably benign Het
Ebf3 T C 7: 136,915,288 (GRCm39) I84V possibly damaging Het
Ehmt2 C T 17: 35,118,067 (GRCm39) R40* probably null Het
Eya3 T A 4: 132,431,689 (GRCm39) D323E probably damaging Het
F5 T C 1: 164,021,749 (GRCm39) L1408P probably benign Het
Fam110d T C 4: 133,979,041 (GRCm39) T146A probably benign Het
Gfod1 C T 13: 43,353,992 (GRCm39) G328S probably benign Het
Gja1 T A 10: 56,263,752 (GRCm39) L37Q probably damaging Het
Gm10650 T A 3: 127,833,666 (GRCm39) noncoding transcript Het
Gm14226 T A 2: 154,867,106 (GRCm39) H354Q probably benign Het
Gm15056 T C 8: 21,390,758 (GRCm39) T60A probably benign Het
Hsd11b1 A T 1: 192,924,553 (GRCm39) N6K probably benign Het
Ighv1-36 T C 12: 114,843,742 (GRCm39) I39M probably benign Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Kdm7a G A 6: 39,128,386 (GRCm39) P482S possibly damaging Het
Lama5 C A 2: 179,840,579 (GRCm39) E607* probably null Het
Lao1 T A 4: 118,824,673 (GRCm39) S252T probably benign Het
Lrp12 A G 15: 39,741,650 (GRCm39) F355S probably damaging Het
Mlycd T C 8: 120,137,043 (GRCm39) F421S probably damaging Het
Nectin3 T C 16: 46,268,812 (GRCm39) E530G probably benign Het
Nifk T C 1: 118,260,669 (GRCm39) *270R probably null Het
Ocln T C 13: 100,676,106 (GRCm39) Y129C probably damaging Het
Or10ag60 C T 2: 87,438,176 (GRCm39) T148I probably benign Het
Or4f54 T A 2: 111,122,832 (GRCm39) L73H probably damaging Het
Or52l1 T A 7: 104,829,864 (GRCm39) I219F possibly damaging Het
Or5b117 A T 19: 13,431,349 (GRCm39) C177* probably null Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pcdhb22 G T 18: 37,652,179 (GRCm39) G216C probably damaging Het
Ppcs T C 4: 119,276,412 (GRCm39) K58E probably damaging Het
Prss38 T C 11: 59,265,196 (GRCm39) T123A probably damaging Het
Rap1gap T A 4: 137,447,744 (GRCm39) probably null Het
Rbm18 A G 2: 36,017,217 (GRCm39) F54L possibly damaging Het
Rwdd3 G A 3: 120,953,432 (GRCm39) probably benign Het
Ryr2 T C 13: 11,650,422 (GRCm39) K138E possibly damaging Het
Sec24a T C 11: 51,604,359 (GRCm39) probably null Het
Serpinb10 A G 1: 107,468,701 (GRCm39) T115A probably benign Het
Slco1a8 T A 6: 141,954,414 (GRCm39) M20L probably benign Het
Slx4ip T G 2: 136,885,930 (GRCm39) F83L probably damaging Het
St3gal1 A T 15: 66,980,078 (GRCm39) S274T probably benign Het
Stab1 A C 14: 30,885,056 (GRCm39) C121W probably damaging Het
Stab2 A G 10: 86,743,249 (GRCm39) L1149P probably damaging Het
Svil T G 18: 5,048,954 (GRCm39) I77R probably benign Het
Tbk1 T G 10: 121,412,241 (GRCm39) E47A possibly damaging Het
Tert C T 13: 73,782,397 (GRCm39) T557I probably damaging Het
Tfap2c A G 2: 172,393,947 (GRCm39) D252G probably damaging Het
Tll1 C A 8: 64,506,983 (GRCm39) C586F probably damaging Het
Tln2 T G 9: 67,261,750 (GRCm39) N663T probably benign Het
Tmem245 T A 4: 56,946,945 (GRCm39) Y156F possibly damaging Het
Uhrf1 G T 17: 56,627,542 (GRCm39) probably null Het
Unc79 T A 12: 103,134,700 (GRCm39) M2417K possibly damaging Het
Ush2a T C 1: 188,689,471 (GRCm39) V5011A probably benign Het
Virma T C 4: 11,494,840 (GRCm39) V47A possibly damaging Het
Vmn2r53 A C 7: 12,315,741 (GRCm39) S693A probably benign Het
Vps54 G A 11: 21,269,881 (GRCm39) probably benign Het
Znfx1 T C 2: 166,907,318 (GRCm39) probably benign Het
Other mutations in Eif3e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00765:Eif3e APN 15 43,141,745 (GRCm39) missense probably benign 0.17
IGL02333:Eif3e APN 15 43,129,533 (GRCm39) missense probably benign 0.37
IGL02669:Eif3e APN 15 43,146,088 (GRCm39) start codon destroyed probably benign
IGL03119:Eif3e APN 15 43,129,000 (GRCm39) missense probably benign
IGL03200:Eif3e APN 15 43,115,657 (GRCm39) missense probably damaging 1.00
Verdugo UTSW 15 43,135,685 (GRCm39) missense probably benign 0.29
R0152:Eif3e UTSW 15 43,115,632 (GRCm39) missense possibly damaging 0.83
R1439:Eif3e UTSW 15 43,141,824 (GRCm39) splice site probably benign
R1613:Eif3e UTSW 15 43,113,620 (GRCm39) missense possibly damaging 0.81
R1997:Eif3e UTSW 15 43,129,005 (GRCm39) missense probably damaging 1.00
R2221:Eif3e UTSW 15 43,114,943 (GRCm39) missense possibly damaging 0.95
R3761:Eif3e UTSW 15 43,124,480 (GRCm39) missense probably damaging 0.99
R4241:Eif3e UTSW 15 43,126,086 (GRCm39) missense probably damaging 0.97
R4571:Eif3e UTSW 15 43,129,558 (GRCm39) missense possibly damaging 0.74
R5227:Eif3e UTSW 15 43,114,917 (GRCm39) missense probably benign 0.01
R5367:Eif3e UTSW 15 43,115,700 (GRCm39) missense probably damaging 1.00
R5417:Eif3e UTSW 15 43,128,917 (GRCm39) missense probably benign 0.00
R5497:Eif3e UTSW 15 43,134,366 (GRCm39) missense probably damaging 0.98
R5928:Eif3e UTSW 15 43,138,728 (GRCm39) splice site probably null
R6083:Eif3e UTSW 15 43,129,540 (GRCm39) missense probably damaging 1.00
R6337:Eif3e UTSW 15 43,115,692 (GRCm39) missense possibly damaging 0.95
R6964:Eif3e UTSW 15 43,135,685 (GRCm39) missense probably benign 0.29
R7692:Eif3e UTSW 15 43,126,642 (GRCm39) missense probably damaging 0.98
R7825:Eif3e UTSW 15 43,129,667 (GRCm39) splice site probably null
R8034:Eif3e UTSW 15 43,135,703 (GRCm39) missense probably benign 0.02
R9463:Eif3e UTSW 15 43,138,709 (GRCm39) missense probably benign
R9583:Eif3e UTSW 15 43,128,957 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- TCACCGTGAGATCATGTATCTATC -3'
(R):5'- CAGTCCAGCTGGTATTATGAAGG -3'

Sequencing Primer
(F):5'- TACAGCATGTACCATACCAA -3'
(R):5'- TATAAGACAGGCATAAACAGGAATGG -3'
Posted On 2016-06-06