Incidental Mutation 'R2215:Eif4enif1'
ID 241100
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 040217-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.494) question?
Stock # R2215 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 3152392-3194588 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 3177476 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 185 (S185G)
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: S348G

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000020734
Gene: ENSMUSG00000020454
AA Change: S348G

DomainStartEndE-ValueType
Pfam:EIF4E-T 29 688 1.2e-189 PFAM
low complexity region 835 851 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000110048
AA Change: S348G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000105675
Gene: ENSMUSG00000020454
AA Change: S348G

DomainStartEndE-ValueType
Pfam:EIF4E-T 29 688 1.2e-189 PFAM
low complexity region 835 851 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000110049
AA Change: S348G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000105676
Gene: ENSMUSG00000020454
AA Change: S348G

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: S185G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112550
Gene: ENSMUSG00000020454
AA Change: S185G

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: ENSMUST00000132425
Predicted Effect probably benign
Transcript: ENSMUST00000135223
SMART Domains Protein: ENSMUSP00000122912
Gene: ENSMUSG00000020454

DomainStartEndE-ValueType
Pfam:EIF4E-T 1 239 1.5e-16 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000179770
AA Change: S348G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000136768
Gene: ENSMUSG00000020454
AA Change: S348G

DomainStartEndE-ValueType
Pfam:EIF4E-T 29 710 4.3e-160 PFAM
low complexity region 859 875 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143770
Predicted Effect probably benign
Transcript: ENSMUST00000159304
SMART Domains Protein: ENSMUSP00000125536
Gene: ENSMUSG00000020457

DomainStartEndE-ValueType
Pfam:TGS 13 58 5.7e-14 PFAM
Meta Mutation Damage Score 0.1924 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 100% (68/68)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T A 11: 84,254,619 (GRCm39) S1899T probably damaging Het
Accs G T 2: 93,672,243 (GRCm39) N208K probably benign Het
Actn4 C A 7: 28,618,178 (GRCm39) V22L possibly damaging Het
Adam21 A G 12: 81,607,064 (GRCm39) S233P probably damaging Het
Adrm1b G A 3: 92,335,730 (GRCm39) A324V probably damaging Het
Agmat C T 4: 141,476,899 (GRCm39) R102C probably benign Het
Akap8l T C 17: 32,540,569 (GRCm39) E608G possibly damaging Het
Arap2 T C 5: 62,834,519 (GRCm39) I788V probably damaging Het
Arhgef12 G T 9: 42,917,167 (GRCm39) H391N probably damaging Het
Arhgef28 G T 13: 98,187,529 (GRCm39) H255Q possibly damaging Het
Baz1a G A 12: 55,022,154 (GRCm39) R43* probably null Het
Bcas3 T C 11: 85,692,769 (GRCm39) S862P probably damaging Het
Blm A T 7: 80,149,595 (GRCm39) H671Q possibly damaging Het
Bmp8a C T 4: 123,218,911 (GRCm39) V166I probably benign Het
Cep120 G T 18: 53,860,707 (GRCm39) P241Q probably damaging Het
Col14a1 G A 15: 55,244,238 (GRCm39) G437E unknown Het
Cyp2a5 T C 7: 26,539,900 (GRCm39) L3S probably damaging Het
D16Ertd472e T C 16: 78,342,155 (GRCm39) T242A probably benign Het
Dach1 A G 14: 98,405,917 (GRCm39) probably null Het
Ddx20 A T 3: 105,587,656 (GRCm39) probably benign Het
Ep400 A T 5: 110,841,421 (GRCm39) probably benign Het
Fam117b T A 1: 60,008,219 (GRCm39) I351K probably damaging Het
Fbxo31 T C 8: 122,293,050 (GRCm39) I112V probably benign Het
Galntl5 A T 5: 25,403,476 (GRCm39) N149I probably damaging Het
Gja8 A T 3: 96,827,218 (GRCm39) F148Y probably damaging Het
Gpatch1 A T 7: 34,993,252 (GRCm39) L531Q possibly damaging Het
Gprin1 G A 13: 54,888,046 (GRCm39) T76M probably damaging Het
Htr4 T A 18: 62,546,787 (GRCm39) C113* probably null Het
Igf1r T A 7: 67,814,982 (GRCm39) D294E probably benign Het
Kdm6b G A 11: 69,295,870 (GRCm39) P799L unknown Het
Lat A T 7: 125,967,137 (GRCm39) V139E probably damaging Het
Lrrc34 G A 3: 30,697,678 (GRCm39) R51C probably benign Het
Map3k1 A G 13: 111,892,322 (GRCm39) S978P probably benign Het
Masp1 T A 16: 23,271,271 (GRCm39) D659V possibly damaging Het
Mcam A T 9: 44,051,250 (GRCm39) R415* probably null Het
Mtmr10 A G 7: 63,987,403 (GRCm39) T648A probably benign Het
Myh2 T C 11: 67,082,563 (GRCm39) W1378R probably benign Het
Nipsnap2 A G 5: 129,816,649 (GRCm39) E64G probably damaging Het
Or4a68 T C 2: 89,270,381 (GRCm39) M81V probably benign Het
Or52n4b T C 7: 108,144,095 (GRCm39) L119P probably damaging Het
Or6c3 A T 10: 129,309,289 (GRCm39) I243F probably damaging Het
Or9s27 G A 1: 92,516,708 (GRCm39) V219I probably benign Het
Pcdhb8 T G 18: 37,490,127 (GRCm39) S602A probably damaging Het
Peg10 A T 6: 4,756,918 (GRCm39) probably benign Het
Pld1 A T 3: 28,132,542 (GRCm39) I577F probably benign Het
Plekhm1 A T 11: 103,267,811 (GRCm39) I720N probably damaging Het
Ppp2r1a A G 17: 21,182,005 (GRCm39) probably null Het
Retreg3 G T 11: 101,010,459 (GRCm39) Y49* probably null Het
Rrp36 T C 17: 46,983,746 (GRCm39) E22G possibly damaging Het
Sec14l2 C A 11: 4,059,169 (GRCm39) A167S probably damaging Het
Sema5b A G 16: 35,480,585 (GRCm39) T751A probably damaging Het
Smarcc1 C A 9: 110,066,907 (GRCm39) probably benign Het
Smox T C 2: 131,362,190 (GRCm39) probably null Het
Spats2l A T 1: 57,985,575 (GRCm39) T543S possibly damaging Het
Sppl2a G T 2: 126,769,754 (GRCm39) T34K probably benign Het
Svep1 T C 4: 58,138,602 (GRCm39) probably benign Het
Tet2 T A 3: 133,192,362 (GRCm39) I691F probably benign Het
Tnxb T C 17: 34,923,114 (GRCm39) Y2566H possibly damaging Het
Ttn T C 2: 76,570,853 (GRCm39) E26680G probably damaging Het
Txlna T C 4: 129,533,111 (GRCm39) E139G possibly damaging Het
Ubap2 T C 4: 41,196,483 (GRCm39) probably null Het
Ubr3 A T 2: 69,809,661 (GRCm39) probably null Het
Usp37 A C 1: 74,483,685 (GRCm39) F844V probably damaging Het
Usp6nl A G 2: 6,429,150 (GRCm39) D204G probably damaging Het
Vmn1r230 T C 17: 21,067,684 (GRCm39) I291T probably benign Het
Zfp229 T G 17: 21,965,258 (GRCm39) V496G possibly 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
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'- GATTAGTTACATTTTGCCTGCACTC -3'
(R):5'- TTGAAAACTTCCCTTCCACAGC -3'

Sequencing Primer
(F):5'- GTTCCACTAAGAAGTCAGCAGTGTC -3'
(R):5'- TTCCCTTCCACAGCATAAAGAG -3'
Posted On 2014-10-15