Incidental Mutation 'IGL02021:Ipo11'
ID183976
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ipo11
Ensembl Gene ENSMUSG00000042590
Gene Nameimportin 11
SynonymsRanbp11, 1700081H05Rik, 2510001A17Rik, E330021B14Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02021
Quality Score
Status
Chromosome13
Chromosomal Location106794439-106936958 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 106857237 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 721 (F721I)
Ref Sequence ENSEMBL: ENSMUSP00000079667 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080856] [ENSMUST00000186033]
Predicted Effect probably damaging
Transcript: ENSMUST00000080856
AA Change: F721I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000079667
Gene: ENSMUSG00000042590
AA Change: F721I

DomainStartEndE-ValueType
IBN_N 28 100 7.71e-12 SMART
low complexity region 375 382 N/A INTRINSIC
low complexity region 563 570 N/A INTRINSIC
low complexity region 845 856 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186005
Predicted Effect probably damaging
Transcript: ENSMUST00000186033
AA Change: F730I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000140046
Gene: ENSMUSG00000042590
AA Change: F730I

DomainStartEndE-ValueType
IBN_N 28 100 7.71e-12 SMART
low complexity region 375 382 N/A INTRINSIC
low complexity region 563 570 N/A INTRINSIC
low complexity region 854 865 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190794
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191363
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Importins, including IPO11, are a members of the karyopherin/importin-beta family of transport receptors (see KPNB1; 602738) that mediate nucleocytoplasmic transport of protein and RNA cargoes (Plafker and Macara, 2000 [PubMed 11032817]).[supplied by OMIM, Sep 2008]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002L01Rik G A 12: 3,407,890 probably benign Het
Adam10 C T 9: 70,743,909 T72I possibly damaging Het
Adam26b T A 8: 43,519,872 M698L probably benign Het
Ankrd27 A T 7: 35,614,456 H404L probably damaging Het
Atp1a1 T C 3: 101,594,208 S60G probably benign Het
Bcat1 T C 6: 145,047,289 probably benign Het
Cd177 G A 7: 24,745,206 A650V probably benign Het
Cmya5 T C 13: 93,094,549 N1344D probably benign Het
Ctsd G T 7: 142,385,476 L71I probably damaging Het
Dctn2 T C 10: 127,275,057 probably null Het
Ddr1 G A 17: 35,683,480 A801V probably damaging Het
Duoxa1 A G 2: 122,304,646 F251S probably benign Het
Fcho1 A C 8: 71,721,275 S2A probably benign Het
Gm4861 T C 3: 137,552,110 probably null Het
Gm4922 C A 10: 18,784,477 G166W probably damaging Het
Hic2 A G 16: 17,258,753 E482G probably benign Het
Hoxa5 C T 6: 52,202,657 R246K probably damaging Het
Lama1 A T 17: 67,821,626 S2993C probably damaging Het
Lonp2 T A 8: 86,708,971 S612T probably benign Het
Lpar5 T G 6: 125,081,992 Y225* probably null Het
Map4k3 A G 17: 80,609,826 Y574H probably damaging Het
Msantd4 A G 9: 4,385,163 E296G probably damaging Het
Ncs1 A G 2: 31,284,165 D109G probably damaging Het
Nnt T C 13: 119,336,247 probably benign Het
Nr1h5 T C 3: 102,947,742 probably benign Het
Olfr1288 A G 2: 111,479,480 D232G probably benign Het
Olfr704 A T 7: 106,865,489 K170* probably null Het
Plk4 A G 3: 40,810,708 D595G probably damaging Het
Rbm17 C A 2: 11,595,438 probably benign Het
Slc24a3 T A 2: 145,518,916 I193N probably damaging Het
St5 T C 7: 109,557,372 Y57C probably damaging Het
Stat5a G T 11: 100,883,889 V759F probably damaging Het
Tgfbi T A 13: 56,631,353 L463Q probably damaging Het
Tigar G T 6: 127,089,290 A95E probably damaging Het
Tph1 A G 7: 46,656,997 I180T possibly damaging Het
Usp22 T A 11: 61,154,499 Y517F probably damaging Het
Vmn2r105 A C 17: 20,227,895 I222M possibly damaging Het
Wapl A G 14: 34,722,336 I582V probably benign Het
Zfp217 A G 2: 170,115,149 V643A probably benign Het
Other mutations in Ipo11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00693:Ipo11 APN 13 106897260 missense probably damaging 1.00
IGL00900:Ipo11 APN 13 106847444 missense possibly damaging 0.81
IGL00971:Ipo11 APN 13 106856769 missense probably damaging 1.00
IGL01023:Ipo11 APN 13 106897259 missense probably benign 0.44
IGL01331:Ipo11 APN 13 106795746 missense possibly damaging 0.92
IGL01608:Ipo11 APN 13 106834494 intron probably benign
IGL02620:Ipo11 APN 13 106876281 critical splice acceptor site probably null
IGL02651:Ipo11 APN 13 106875606 missense probably damaging 1.00
IGL02699:Ipo11 APN 13 106889397 missense possibly damaging 0.94
IGL02928:Ipo11 APN 13 106889355 splice site probably benign
R0017:Ipo11 UTSW 13 106886730 missense probably benign 0.00
R0017:Ipo11 UTSW 13 106886730 missense probably benign 0.00
R0032:Ipo11 UTSW 13 106834463 intron probably benign
R0164:Ipo11 UTSW 13 106910194 splice site probably benign
R0333:Ipo11 UTSW 13 106870763 missense probably benign 0.00
R0499:Ipo11 UTSW 13 106925087 missense probably benign 0.00
R0555:Ipo11 UTSW 13 106892461 missense probably damaging 1.00
R0718:Ipo11 UTSW 13 106919611 missense possibly damaging 0.91
R0899:Ipo11 UTSW 13 106900816 nonsense probably null
R1590:Ipo11 UTSW 13 106886717 missense probably damaging 1.00
R1700:Ipo11 UTSW 13 106795662 missense probably benign
R1851:Ipo11 UTSW 13 106812257 missense possibly damaging 0.73
R1852:Ipo11 UTSW 13 106812257 missense possibly damaging 0.73
R1853:Ipo11 UTSW 13 106860887 missense probably benign 0.19
R2012:Ipo11 UTSW 13 106919622 missense probably benign 0.01
R2168:Ipo11 UTSW 13 106879610 splice site probably null
R2183:Ipo11 UTSW 13 106925087 missense probably benign 0.00
R4254:Ipo11 UTSW 13 106892509 missense probably benign 0.00
R4607:Ipo11 UTSW 13 106900811 missense probably damaging 0.98
R4610:Ipo11 UTSW 13 106879737 missense probably benign 0.06
R4654:Ipo11 UTSW 13 106834184 intron probably benign
R4792:Ipo11 UTSW 13 106834160 intron probably benign
R4990:Ipo11 UTSW 13 106860887 missense probably benign 0.19
R5309:Ipo11 UTSW 13 106833973 intron probably benign
R5580:Ipo11 UTSW 13 106900747 missense probably benign
R5822:Ipo11 UTSW 13 106848418 unclassified probably benign
R6459:Ipo11 UTSW 13 106865769 intron probably null
R6597:Ipo11 UTSW 13 106865863 critical splice donor site probably null
R6803:Ipo11 UTSW 13 106857258 missense probably benign
R6882:Ipo11 UTSW 13 106900682 splice site probably null
R7071:Ipo11 UTSW 13 106925096 missense probably damaging 1.00
R7202:Ipo11 UTSW 13 106875570 missense probably damaging 1.00
R7214:Ipo11 UTSW 13 106895857 missense probably null
R7221:Ipo11 UTSW 13 106892557 missense probably damaging 1.00
R7392:Ipo11 UTSW 13 106891691 nonsense probably null
R7871:Ipo11 UTSW 13 106892468 missense probably benign 0.01
R7954:Ipo11 UTSW 13 106892468 missense probably benign 0.01
Posted On2014-05-07