Incidental Mutation 'R8546:Eif6'
ID 659618
Institutional Source Beutler Lab
Gene Symbol Eif6
Ensembl Gene ENSMUSG00000027613
Gene Name eukaryotic translation initiation factor 6
Synonyms p27BBP, eIF6, imc-415, Itgb4bp
MMRRC Submission 068511-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8546 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 155661757-155668845 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 155668420 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000115715 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029142] [ENSMUST00000029143] [ENSMUST00000109638] [ENSMUST00000129830] [ENSMUST00000134278] [ENSMUST00000154841]
AlphaFold O55135
Predicted Effect probably benign
Transcript: ENSMUST00000029142
SMART Domains Protein: ENSMUSP00000029142
Gene: ENSMUSG00000027613

DomainStartEndE-ValueType
eIF6 3 204 2.72e-136 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000029143
SMART Domains Protein: ENSMUSP00000029143
Gene: ENSMUSG00000074647

DomainStartEndE-ValueType
Pfam:DUF1669 61 337 3.1e-107 PFAM
low complexity region 347 357 N/A INTRINSIC
low complexity region 368 385 N/A INTRINSIC
low complexity region 398 411 N/A INTRINSIC
low complexity region 474 484 N/A INTRINSIC
low complexity region 570 589 N/A INTRINSIC
low complexity region 672 685 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000109638
SMART Domains Protein: ENSMUSP00000105266
Gene: ENSMUSG00000027613

DomainStartEndE-ValueType
Pfam:eIF-6 3 70 1.2e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000129830
SMART Domains Protein: ENSMUSP00000120206
Gene: ENSMUSG00000027613

DomainStartEndE-ValueType
eIF6 3 68 4.5e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000134278
SMART Domains Protein: ENSMUSP00000123190
Gene: ENSMUSG00000027613

DomainStartEndE-ValueType
Pfam:eIF-6 1 58 5.1e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000154841
SMART Domains Protein: ENSMUSP00000115715
Gene: ENSMUSG00000027613

DomainStartEndE-ValueType
Pfam:eIF-6 3 45 7.8e-10 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene is a eukaryotic translation initiation factor that regulates both ribosome biogenesis and translation, which are rate-limiting factors for cell growth. The encoded protein binds 60S ribosomes and prevents their association with 40S ribosomes. This gene may play a role in oncogenesis as well. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit lethality prior to E3.5 and mice heterozygous for the allele exhibit reduced body, liver and adipose tissue weights associated with a reduced translation rate and delayed G1/S phase transition. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot1 T C 12: 84,064,139 (GRCm39) S416P probably benign Het
Adcy9 G T 16: 4,236,769 (GRCm39) A214E probably benign Het
Atp11a T A 8: 12,901,083 (GRCm39) W971R probably damaging Het
Axl C T 7: 25,473,588 (GRCm39) R346H probably benign Het
Bltp3b A G 10: 89,630,397 (GRCm39) N399S probably damaging Het
Bsn G A 9: 107,988,651 (GRCm39) A2367V probably benign Het
Cabin1 T C 10: 75,578,101 (GRCm39) D532G probably damaging Het
Cdh20 A G 1: 104,861,769 (GRCm39) probably benign Het
Cfap97d1 A G 11: 101,881,687 (GRCm39) R77G probably damaging Het
Clca3b T A 3: 144,533,158 (GRCm39) S625C probably damaging Het
Col3a1 G A 1: 45,380,099 (GRCm39) probably benign Het
Ctu2 T C 8: 123,206,102 (GRCm39) L281P probably damaging Het
Cyb5a G A 18: 84,889,759 (GRCm39) probably null Het
Cyb5rl T A 4: 106,925,923 (GRCm39) V35D probably damaging Het
Dnah17 A G 11: 118,015,101 (GRCm39) F381S probably benign Het
Eif3a A T 19: 60,755,208 (GRCm39) N991K unknown Het
Fahd1 T C 17: 25,069,057 (GRCm39) M7V possibly damaging Het
Fam171b A G 2: 83,685,795 (GRCm39) T160A probably damaging Het
Fnip1 A G 11: 54,400,826 (GRCm39) E1075G probably benign Het
Fras1 G A 5: 96,857,825 (GRCm39) V2040I probably benign Het
Gjc2 G T 11: 59,067,182 (GRCm39) D433E unknown Het
H2bc13 G A 13: 21,900,042 (GRCm39) T91M probably damaging Het
Igsf9b T C 9: 27,244,426 (GRCm39) S794P possibly damaging Het
Irx6 A T 8: 93,405,264 (GRCm39) R377S probably benign Het
Khnyn A G 14: 56,123,275 (GRCm39) T10A probably benign Het
Kmt2e A T 5: 23,686,242 (GRCm39) H389L probably damaging Het
Lin7c A G 2: 109,726,716 (GRCm39) I122V probably null Het
Lonp1 G A 17: 56,933,702 (GRCm39) P58S probably benign Het
Loxl4 T C 19: 42,596,027 (GRCm39) H142R probably benign Het
Mcm6 C T 1: 128,273,685 (GRCm39) E382K possibly damaging Het
Mettl2 T A 11: 105,022,399 (GRCm39) N196K probably benign Het
Myo7b T C 18: 32,123,201 (GRCm39) E712G probably benign Het
Ncam2 C T 16: 81,314,419 (GRCm39) T465I probably benign Het
Or7e169 T A 9: 19,757,685 (GRCm39) T77S probably damaging Het
Padi4 T C 4: 140,484,841 (GRCm39) E340G probably damaging Het
Patj T A 4: 98,325,634 (GRCm39) S490R probably benign Het
Pkd1l3 G A 8: 110,393,615 (GRCm39) S1981N possibly damaging Het
Poll T A 19: 45,546,416 (GRCm39) D208V probably damaging Het
Polr3f A G 2: 144,374,284 (GRCm39) D64G probably damaging Het
Prkdc A G 16: 15,480,899 (GRCm39) Y340C probably damaging Het
Prmt6 C T 3: 110,158,034 (GRCm39) R85Q possibly damaging Het
Rgl3 T C 9: 21,899,156 (GRCm39) K140R probably benign Het
Rhoj A G 12: 75,422,124 (GRCm39) T61A probably benign Het
Skor1 T C 9: 63,049,570 (GRCm39) D795G probably damaging Het
Slc28a2b A T 2: 122,353,235 (GRCm39) M472L probably benign Het
Tekt5 A G 16: 10,175,877 (GRCm39) V556A probably benign Het
Tlr1 T A 5: 65,084,374 (GRCm39) I68F probably damaging Het
Tnni3k G T 3: 154,498,444 (GRCm39) N798K probably benign Het
Tuft1 T A 3: 94,529,420 (GRCm39) E227D probably benign Het
Tulp1 T C 17: 28,582,710 (GRCm39) K146R probably benign Het
Usp24 G A 4: 106,259,326 (GRCm39) A1616T probably benign Het
Ythdc1 A T 5: 86,974,607 (GRCm39) K452N possibly damaging Het
Zscan4-ps3 T A 7: 11,346,697 (GRCm39) H244Q possibly damaging Het
Other mutations in Eif6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01145:Eif6 APN 2 155,668,355 (GRCm39) utr 5 prime probably benign
IGL01490:Eif6 APN 2 155,668,102 (GRCm39) missense probably benign 0.05
IGL02366:Eif6 APN 2 155,668,092 (GRCm39) missense probably benign 0.05
IGL02796:Eif6 UTSW 2 155,668,068 (GRCm39) missense probably damaging 1.00
R2151:Eif6 UTSW 2 155,664,810 (GRCm39) missense probably benign 0.01
R3776:Eif6 UTSW 2 155,668,296 (GRCm39) missense possibly damaging 0.85
R4659:Eif6 UTSW 2 155,668,101 (GRCm39) missense probably damaging 0.98
R6808:Eif6 UTSW 2 155,665,206 (GRCm39) missense probably damaging 1.00
R7733:Eif6 UTSW 2 155,665,152 (GRCm39) missense probably benign 0.13
R8680:Eif6 UTSW 2 155,664,772 (GRCm39) missense probably benign 0.15
R8798:Eif6 UTSW 2 155,664,886 (GRCm39) missense probably damaging 1.00
R9062:Eif6 UTSW 2 155,665,928 (GRCm39) missense probably benign 0.03
R9177:Eif6 UTSW 2 155,665,852 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2021-01-18