Incidental Mutation 'R1511:Eif4enif1'
ID 168343
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 039558-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.519) question?
Stock # R1511 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 3152392-3194588 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 3186278 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 462 (V462A)
Ref Sequence ENSEMBL: ENSMUSP00000112550 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020734] [ENSMUST00000110048] [ENSMUST00000110049] [ENSMUST00000120721] [ENSMUST00000135223] [ENSMUST00000179770]
AlphaFold Q9EST3
Predicted Effect probably benign
Transcript: ENSMUST00000020734
AA Change: V613A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000020734
Gene: ENSMUSG00000020454
AA Change: V613A

DomainStartEndE-ValueType
Pfam:EIF4E-T 29 688 1.2e-189 PFAM
low complexity region 835 851 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110048
AA Change: V613A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000105675
Gene: ENSMUSG00000020454
AA Change: V613A

DomainStartEndE-ValueType
Pfam:EIF4E-T 29 688 1.2e-189 PFAM
low complexity region 835 851 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110049
AA Change: V637A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000105676
Gene: ENSMUSG00000020454
AA Change: V637A

DomainStartEndE-ValueType
Pfam:EIF4E-T 29 712 2.7e-184 PFAM
low complexity region 859 875 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000120721
AA Change: V462A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000112550
Gene: ENSMUSG00000020454
AA Change: V462A

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 benign
Transcript: ENSMUST00000135223
AA Change: V195A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000122912
Gene: ENSMUSG00000020454
AA Change: V195A

DomainStartEndE-ValueType
Pfam:EIF4E-T 1 239 1.5e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147534
Predicted Effect probably benign
Transcript: ENSMUST00000179770
AA Change: V637A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000136768
Gene: ENSMUSG00000020454
AA Change: V637A

DomainStartEndE-ValueType
Pfam:EIF4E-T 29 710 4.3e-160 PFAM
low complexity region 859 875 N/A INTRINSIC
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: 99.0%
  • 3x: 98.0%
  • 10x: 95.4%
  • 20x: 89.7%
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: 105 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs C A 5: 125,592,041 (GRCm39) N576K probably benign Het
Abca5 G T 11: 110,190,804 (GRCm39) L769M probably damaging Het
Abca5 T A 11: 110,190,812 (GRCm39) H766L possibly damaging Het
Acvr1c A G 2: 58,177,896 (GRCm39) I191T probably damaging Het
Agps A T 2: 75,697,123 (GRCm39) E314D probably damaging Het
Agxt G A 1: 93,063,490 (GRCm39) G131R probably damaging Het
Ak8 A G 2: 28,632,758 (GRCm39) T326A probably benign Het
Aldoart2 T A 12: 55,613,062 (GRCm39) I329N probably benign Het
Apaf1 T C 10: 90,896,047 (GRCm39) I342V possibly damaging Het
Arhgap40 T C 2: 158,369,081 (GRCm39) S68P probably benign Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
AU022252 C T 4: 119,085,294 (GRCm39) R71Q possibly damaging Het
Baz1b T C 5: 135,246,636 (GRCm39) L695P probably damaging Het
Baz2b A T 2: 59,792,368 (GRCm39) S587T probably benign Het
Cep76 T C 18: 67,758,028 (GRCm39) M421V probably benign Het
Clk2 A G 3: 89,076,010 (GRCm39) D60G probably damaging Het
Clstn3 G T 6: 124,439,128 (GRCm39) T6K probably damaging Het
Cluap1 T A 16: 3,737,422 (GRCm39) D180E probably benign Het
Col12a1 T C 9: 79,606,834 (GRCm39) I530V probably benign Het
Cpt1a T C 19: 3,415,788 (GRCm39) probably benign Het
Cr2 T G 1: 194,837,580 (GRCm39) K797Q possibly damaging Het
Crybg3 C A 16: 59,374,475 (GRCm39) V2260L probably benign Het
Csnk1a1 T A 18: 61,718,321 (GRCm39) probably benign Het
Cxcr1 T C 1: 74,231,929 (GRCm39) D31G probably benign Het
Cyp2a5 G T 7: 26,535,361 (GRCm39) D108Y probably damaging Het
Dnajc1 A G 2: 18,227,538 (GRCm39) V376A possibly damaging Het
Elmo1 A G 13: 20,474,647 (GRCm39) K357R possibly damaging Het
Eml6 T A 11: 29,768,374 (GRCm39) H771L probably damaging Het
Epb41l4a A G 18: 33,965,717 (GRCm39) I370T probably benign Het
Esp36 A T 17: 38,728,172 (GRCm39) N79K possibly damaging Het
Fam229b A G 10: 38,994,915 (GRCm39) *81Q probably null Het
Fat4 T C 3: 39,037,225 (GRCm39) Y3626H probably damaging Het
Fbn1 A T 2: 125,148,205 (GRCm39) F2681Y probably benign Het
Gad1-ps A G 10: 99,281,331 (GRCm39) noncoding transcript Het
Galm C A 17: 80,490,696 (GRCm39) N284K probably damaging Het
Gtf3c2 A T 5: 31,316,446 (GRCm39) S735T probably benign Het
Hsph1 A T 5: 149,553,848 (GRCm39) S207T probably benign Het
Il33 C T 19: 29,932,615 (GRCm39) R159C probably damaging Het
Invs A G 4: 48,382,148 (GRCm39) N106S possibly damaging Het
Kif21b G T 1: 136,097,062 (GRCm39) probably null Het
Kirrel2 A G 7: 30,155,923 (GRCm39) C42R probably damaging Het
Letm1 A C 5: 33,909,899 (GRCm39) C378W probably damaging Het
Lrrc71 T A 3: 87,652,791 (GRCm39) K160N probably benign Het
Lrrtm3 A G 10: 63,924,804 (GRCm39) I121T probably damaging Het
Lztr1 T A 16: 17,327,534 (GRCm39) V79E probably damaging Het
Mmp8 T G 9: 7,566,279 (GRCm39) D378E probably damaging Het
Mpzl3 A G 9: 44,977,827 (GRCm39) E145G probably damaging Het
Mrps2 C T 2: 28,359,676 (GRCm39) L178F probably damaging Het
Mzb1 A G 18: 35,780,875 (GRCm39) probably null Het
Nckap1 T C 2: 80,383,759 (GRCm39) D135G probably damaging Het
Ndst1 A G 18: 60,830,242 (GRCm39) F623L possibly damaging Het
Nlrp5 A T 7: 23,112,772 (GRCm39) D143V probably damaging Het
Or14a260 T C 7: 85,985,553 (GRCm39) D17G possibly damaging Het
Or4a69 T C 2: 89,312,592 (GRCm39) M296V probably null Het
Or4b1d A G 2: 89,968,748 (GRCm39) V245A probably benign Het
Or4c120 A G 2: 89,001,281 (GRCm39) S92P probably damaging Het
Or4f58 A G 2: 111,851,749 (GRCm39) V150A probably benign Het
Or52b4i T C 7: 102,191,332 (GRCm39) L63P probably damaging Het
Or8b44 A G 9: 38,410,114 (GRCm39) I50V probably benign Het
Or8g17 T C 9: 38,930,321 (GRCm39) D172G probably benign Het
Parp14 T G 16: 35,677,594 (GRCm39) E791D probably benign Het
Pcdh8 C T 14: 80,006,829 (GRCm39) R578H possibly damaging Het
Phrf1 T A 7: 140,839,714 (GRCm39) probably benign Het
Polr3b C A 10: 84,516,249 (GRCm39) H626N probably benign Het
Ppp1r12a A G 10: 108,087,720 (GRCm39) T58A probably benign Het
Ppp4r3b T A 11: 29,132,460 (GRCm39) V33D probably damaging Het
Ppp5c A G 7: 16,743,907 (GRCm39) Y176H probably damaging Het
R3hdm1 A G 1: 128,124,742 (GRCm39) Y343C probably damaging Het
Rabac1 C T 7: 24,671,555 (GRCm39) V122M probably damaging Het
Rasef G T 4: 73,653,985 (GRCm39) Q561K probably damaging Het
Rbl1 A G 2: 157,037,554 (GRCm39) S198P probably damaging Het
Rbm12 A T 2: 155,939,456 (GRCm39) M272K probably damaging Het
Rexo1 T G 10: 80,385,884 (GRCm39) K391N possibly damaging Het
Rnf43 T C 11: 87,622,173 (GRCm39) S384P probably benign Het
Rpsa A T 9: 119,960,066 (GRCm39) I210F possibly damaging Het
Rslcan18 A G 13: 67,247,016 (GRCm39) Y75H possibly damaging Het
Scn9a T A 2: 66,357,157 (GRCm39) D1048V probably benign Het
Sec11a T C 7: 80,577,482 (GRCm39) probably null Het
Sidt2 A G 9: 45,861,387 (GRCm39) V19A probably damaging Het
Snx14 G A 9: 88,280,417 (GRCm39) Q522* probably null Het
Stx1b A G 7: 127,414,144 (GRCm39) L74S probably damaging Het
Tm7sf3 A T 6: 146,511,376 (GRCm39) M371K probably benign Het
Tmem115 T C 9: 107,412,174 (GRCm39) V166A probably benign Het
Traf5 T A 1: 191,731,912 (GRCm39) T310S probably benign Het
Trdn A G 10: 33,342,448 (GRCm39) K619E probably benign Het
Trmt10a T A 3: 137,857,945 (GRCm39) probably null Het
Txk A C 5: 72,865,014 (GRCm39) I287R probably damaging Het
Txndc16 T C 14: 45,389,344 (GRCm39) D452G probably damaging Het
Ube2f G A 1: 91,190,023 (GRCm39) probably null Het
Ubtfl1 T G 9: 18,321,489 (GRCm39) I339R probably benign Het
Upf1 A G 8: 70,791,155 (GRCm39) I529T probably damaging Het
Vmn1r197 A G 13: 22,512,823 (GRCm39) D248G possibly damaging Het
Vmn1r5 A T 6: 56,962,771 (GRCm39) T149S probably benign Het
Vmn1r83 C T 7: 12,055,197 (GRCm39) V287I possibly damaging Het
Vmn2r118 G A 17: 55,915,496 (GRCm39) R485* probably null Het
Vmn2r130 A G 17: 23,282,775 (GRCm39) T152A probably benign Het
Vps13b T C 15: 35,840,121 (GRCm39) F2448L probably damaging Het
Vps13b A G 15: 35,841,719 (GRCm39) N2583S probably benign Het
Wscd1 C T 11: 71,679,501 (GRCm39) P458L probably damaging Het
Xylt2 T A 11: 94,561,259 (GRCm39) D168V probably damaging Het
Zdhhc2 A G 8: 40,921,013 (GRCm39) T306A probably benign Het
Zfp804b A T 5: 6,819,771 (GRCm39) D1097E possibly damaging Het
Zfp93 T A 7: 23,975,156 (GRCm39) C380* probably null Het
Zfp960 T A 17: 17,308,518 (GRCm39) C411S probably damaging Het
Zmynd15 T A 11: 70,355,619 (GRCm39) V430E 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
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
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'- CATTCAGTGGACACCAGCATAACTTAGT -3'
(R):5'- GGGCACAGGAAGACCTTGGAGAT -3'

Sequencing Primer
(F):5'- GGACACCAGCATAACTTAGTTATTTG -3'
(R):5'- GGACCTATCTTACATTGGATCAGC -3'
Posted On 2014-04-13