Incidental Mutation 'R6036:Eif4enif1'
ID 486590
Institutional Source Beutler Lab
Gene Symbol Eif4enif1
Ensembl Gene ENSMUSG00000020454
Gene Name eukaryotic translation initiation factor 4E nuclear import factor 1
Synonyms D11Ertd166e, 2610509L04Rik, Clast4, A930019J01Rik
MMRRC Submission 043257-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.494) question?
Stock # R6036 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 3152392-3194588 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 3189420 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 227 (S227P)
Ref Sequence ENSEMBL: ENSMUSP00000122912 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020734] [ENSMUST00000110048] [ENSMUST00000110049] [ENSMUST00000120721] [ENSMUST00000135223] [ENSMUST00000179770]
AlphaFold Q9EST3
Predicted Effect possibly damaging
Transcript: ENSMUST00000020734
AA Change: S645P

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000020734
Gene: ENSMUSG00000020454
AA Change: S645P

DomainStartEndE-ValueType
Pfam:EIF4E-T 29 688 1.2e-189 PFAM
low complexity region 835 851 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000110048
AA Change: S645P

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000105675
Gene: ENSMUSG00000020454
AA Change: S645P

DomainStartEndE-ValueType
Pfam:EIF4E-T 29 688 1.2e-189 PFAM
low complexity region 835 851 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000110049
AA Change: S669P

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000105676
Gene: ENSMUSG00000020454
AA Change: S669P

DomainStartEndE-ValueType
Pfam:EIF4E-T 29 712 2.7e-184 PFAM
low complexity region 859 875 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000120721
AA Change: S494P

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000112550
Gene: ENSMUSG00000020454
AA Change: S494P

DomainStartEndE-ValueType
Pfam:EIF4E-T 29 99 3.6e-29 PFAM
Pfam:EIF4E-T 98 327 5.1e-41 PFAM
Pfam:EIF4E-T 282 537 7.7e-30 PFAM
low complexity region 684 700 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127950
Predicted Effect probably damaging
Transcript: ENSMUST00000135223
AA Change: S227P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000122912
Gene: ENSMUSG00000020454
AA Change: S227P

DomainStartEndE-ValueType
Pfam:EIF4E-T 1 239 1.5e-16 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000179770
AA Change: S669P

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000136768
Gene: ENSMUSG00000020454
AA Change: S669P

DomainStartEndE-ValueType
Pfam:EIF4E-T 29 710 4.3e-160 PFAM
low complexity region 859 875 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147534
Predicted Effect probably benign
Transcript: ENSMUST00000159304
SMART Domains Protein: ENSMUSP00000125536
Gene: ENSMUSG00000020457

DomainStartEndE-ValueType
Pfam:TGS 13 58 5.7e-14 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a nucleocytoplasmic shuttle protein for the translation initiation factor eIF4E. This shuttle protein interacts with the importin alpha-beta complex to mediate nuclear import of eIF4E. It is predominantly cytoplasmic; its own nuclear import is regulated by a nuclear localization signal and nuclear export signals. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3 T C 11: 95,723,684 (GRCm39) probably benign Het
Ago1 C T 4: 126,337,021 (GRCm39) R228H probably damaging Het
Alpk3 G A 7: 80,743,005 (GRCm39) V941M probably benign Het
Ano4 A G 10: 88,818,127 (GRCm39) W588R possibly damaging Het
Atp6v1a A G 16: 43,919,194 (GRCm39) Y464H probably benign Het
Barx2 A T 9: 31,824,304 (GRCm39) D28E probably damaging Het
Cabp5 A T 7: 13,135,260 (GRCm39) M67L probably damaging Het
Col10a1 A G 10: 34,271,278 (GRCm39) T417A probably benign Het
Dnah2 C T 11: 69,349,746 (GRCm39) R2399Q probably benign Het
Ehmt2 C T 17: 35,118,067 (GRCm39) R40* probably null Het
Erv3 G A 2: 131,697,925 (GRCm39) H145Y possibly damaging Het
Exoc5 T C 14: 49,251,779 (GRCm39) T591A possibly damaging Het
F5 A T 1: 164,012,565 (GRCm39) E493V probably damaging Het
Gm8444 G T 15: 81,727,794 (GRCm39) probably benign Het
Gria4 T A 9: 4,537,646 (GRCm39) I221L probably benign Het
Gtf2h3 C T 5: 124,722,360 (GRCm39) T121I probably benign Het
H2bc13 A T 13: 21,900,148 (GRCm39) S56T probably damaging Het
Hc T C 2: 34,929,696 (GRCm39) T249A probably benign Het
Herc2 A G 7: 55,717,801 (GRCm39) T48A probably benign Het
Hp A G 8: 110,303,406 (GRCm39) probably null Het
Ifna15 T G 4: 88,476,310 (GRCm39) D58A possibly damaging Het
Kcnj1 A T 9: 32,308,421 (GRCm39) M262L probably benign Het
Krt87 A C 15: 101,385,412 (GRCm39) I320S possibly damaging Het
Megf10 A G 18: 57,375,799 (GRCm39) N242D probably damaging Het
Nup155 A G 15: 8,157,895 (GRCm39) T451A probably benign Het
Or2ag2b A T 7: 106,417,667 (GRCm39) I126F probably damaging Het
Or4g7 T C 2: 111,309,333 (GRCm39) L68P probably damaging Het
Or4k35 C T 2: 111,099,957 (GRCm39) G252R probably damaging Het
Or51a25 T A 7: 102,373,692 (GRCm39) I2F probably benign Het
Or8d23 A G 9: 38,842,216 (GRCm39) I250V probably damaging Het
Pdzd8 G A 19: 59,293,641 (GRCm39) P403S probably damaging Het
Piezo2 G A 18: 63,248,019 (GRCm39) Q494* probably null Het
Pik3c2b T C 1: 133,018,451 (GRCm39) F966S possibly damaging Het
Plag1 T C 4: 3,904,618 (GRCm39) E191G possibly damaging Het
Pou4f2 A T 8: 79,162,103 (GRCm39) S167T probably damaging Het
Rsf1 G GACGGCGGCT 7: 97,229,116 (GRCm39) probably benign Het
Scd4 G A 19: 44,333,231 (GRCm39) D319N probably damaging Het
Senp2 A T 16: 21,847,308 (GRCm39) R279* probably null Het
Sh3rf3 G A 10: 58,649,806 (GRCm39) G137D probably benign Het
Simc1 C T 13: 54,672,434 (GRCm39) P261S probably benign Het
Skint8 C A 4: 111,807,390 (GRCm39) L359M probably damaging Het
Slc26a1 T A 5: 108,821,436 (GRCm39) D151V probably damaging Het
Snx29 A G 16: 11,556,301 (GRCm39) probably null Het
Stard9 C T 2: 120,530,556 (GRCm39) A2271V probably benign Het
Stat6 A G 10: 127,491,313 (GRCm39) N485D possibly damaging Het
Tpcn2 T C 7: 144,822,606 (GRCm39) T280A possibly damaging Het
Ttc23 A G 7: 67,361,114 (GRCm39) I378V possibly damaging Het
Ttc29 A G 8: 79,052,205 (GRCm39) D362G probably benign Het
Ttll7 A G 3: 146,645,917 (GRCm39) I592V probably benign Het
Ugt3a1 A T 15: 9,306,172 (GRCm39) H107L probably benign Het
Vmn1r70 A G 7: 10,367,830 (GRCm39) Q87R probably damaging Het
Vmn2r-ps129 T C 17: 23,214,146 (GRCm39) noncoding transcript Het
Wdfy4 G T 14: 32,868,947 (GRCm39) S360R probably damaging Het
Zfp780b A G 7: 27,662,993 (GRCm39) Y521H probably damaging Het
Other mutations in Eif4enif1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01139:Eif4enif1 APN 11 3,171,143 (GRCm39) missense probably damaging 0.96
IGL02237:Eif4enif1 APN 11 3,177,876 (GRCm39) nonsense probably null
IGL02372:Eif4enif1 APN 11 3,179,986 (GRCm39) missense probably benign 0.09
PIT4283001:Eif4enif1 UTSW 11 3,184,464 (GRCm39) missense probably damaging 1.00
R0079:Eif4enif1 UTSW 11 3,192,676 (GRCm39) nonsense probably null
R1177:Eif4enif1 UTSW 11 3,179,902 (GRCm39) missense probably damaging 1.00
R1220:Eif4enif1 UTSW 11 3,189,493 (GRCm39) splice site probably benign
R1511:Eif4enif1 UTSW 11 3,186,278 (GRCm39) missense probably benign 0.00
R1675:Eif4enif1 UTSW 11 3,165,686 (GRCm39) missense probably benign 0.02
R1908:Eif4enif1 UTSW 11 3,177,455 (GRCm39) missense probably damaging 1.00
R1940:Eif4enif1 UTSW 11 3,193,279 (GRCm39) missense probably damaging 1.00
R2173:Eif4enif1 UTSW 11 3,192,367 (GRCm39) splice site probably null
R2215:Eif4enif1 UTSW 11 3,177,476 (GRCm39) missense probably damaging 1.00
R2517:Eif4enif1 UTSW 11 3,171,168 (GRCm39) missense probably damaging 1.00
R2869:Eif4enif1 UTSW 11 3,192,586 (GRCm39) missense probably damaging 1.00
R2869:Eif4enif1 UTSW 11 3,192,586 (GRCm39) missense probably damaging 1.00
R2870:Eif4enif1 UTSW 11 3,192,586 (GRCm39) missense probably damaging 1.00
R2870:Eif4enif1 UTSW 11 3,192,586 (GRCm39) missense probably damaging 1.00
R2871:Eif4enif1 UTSW 11 3,192,586 (GRCm39) missense probably damaging 1.00
R2871:Eif4enif1 UTSW 11 3,192,586 (GRCm39) missense probably damaging 1.00
R2873:Eif4enif1 UTSW 11 3,192,586 (GRCm39) missense probably damaging 1.00
R3147:Eif4enif1 UTSW 11 3,194,003 (GRCm39) splice site probably null
R4195:Eif4enif1 UTSW 11 3,193,186 (GRCm39) missense possibly damaging 0.89
R4196:Eif4enif1 UTSW 11 3,193,186 (GRCm39) missense possibly damaging 0.89
R4708:Eif4enif1 UTSW 11 3,170,323 (GRCm39) missense probably damaging 1.00
R4755:Eif4enif1 UTSW 11 3,194,016 (GRCm39) missense probably damaging 1.00
R5310:Eif4enif1 UTSW 11 3,192,687 (GRCm39) missense probably damaging 1.00
R5546:Eif4enif1 UTSW 11 3,193,989 (GRCm39) missense probably damaging 0.99
R5816:Eif4enif1 UTSW 11 3,192,401 (GRCm39) missense probably benign 0.13
R6018:Eif4enif1 UTSW 11 3,192,481 (GRCm39) missense probably damaging 0.97
R6036:Eif4enif1 UTSW 11 3,189,420 (GRCm39) missense probably damaging 1.00
R6267:Eif4enif1 UTSW 11 3,177,793 (GRCm39) missense probably damaging 1.00
R6514:Eif4enif1 UTSW 11 3,190,996 (GRCm39) missense probably null 0.01
R6638:Eif4enif1 UTSW 11 3,192,463 (GRCm39) missense probably damaging 0.96
R7040:Eif4enif1 UTSW 11 3,184,040 (GRCm39) missense probably benign 0.33
R7232:Eif4enif1 UTSW 11 3,165,678 (GRCm39) missense possibly damaging 0.75
R7385:Eif4enif1 UTSW 11 3,170,269 (GRCm39) missense probably damaging 1.00
R7478:Eif4enif1 UTSW 11 3,177,709 (GRCm39) nonsense probably null
R7749:Eif4enif1 UTSW 11 3,192,608 (GRCm39) missense probably damaging 0.99
R8381:Eif4enif1 UTSW 11 3,177,470 (GRCm39) missense probably damaging 1.00
R9029:Eif4enif1 UTSW 11 3,174,716 (GRCm39) missense probably damaging 1.00
R9622:Eif4enif1 UTSW 11 3,165,714 (GRCm39) missense probably benign 0.26
R9646:Eif4enif1 UTSW 11 3,170,280 (GRCm39) missense probably damaging 1.00
R9694:Eif4enif1 UTSW 11 3,170,384 (GRCm39) missense probably damaging 0.98
R9747:Eif4enif1 UTSW 11 3,163,267 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TGCCTCAGGTATTGACTGTTCC -3'
(R):5'- ATGTACTAGACAGATCTGAAAGGC -3'

Sequencing Primer
(F):5'- GTATTGACTGTTCCCACTACAGAGG -3'
(R):5'- GGCCTTCAGAGACACAGGTAAC -3'
Posted On 2017-08-16