Incidental Mutation 'IGL00900:Ipo11'
ID 28823
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ipo11
Ensembl Gene ENSMUSG00000042590
Gene Name importin 11
Synonyms Ranbp11, 1700081H05Rik, 2510001A17Rik, E330021B14Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00900
Quality Score
Status
Chromosome 13
Chromosomal Location 106930947-107073466 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 106983952 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 797 (M797V)
Ref Sequence ENSEMBL: ENSMUSP00000140046 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080856] [ENSMUST00000186033]
AlphaFold Q8K2V6
Predicted Effect noncoding transcript
Transcript: ENSMUST00000057427
SMART Domains Protein: ENSMUSP00000053644
Gene: ENSMUSG00000078933

DomainStartEndE-ValueType
transmembrane domain 99 116 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000080856
AA Change: M788V

PolyPhen 2 Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000079667
Gene: ENSMUSG00000042590
AA Change: M788V

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: ENSMUST00000185993
Predicted Effect possibly damaging
Transcript: ENSMUST00000186033
AA Change: M797V

PolyPhen 2 Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000140046
Gene: ENSMUSG00000042590
AA Change: M797V

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 probably benign
Transcript: ENSMUST00000190801
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatf T C 11: 84,361,383 (GRCm39) probably benign Het
Agap3 G A 5: 24,681,366 (GRCm39) probably benign Het
Angptl2 A T 2: 33,133,784 (GRCm39) M369L probably benign Het
Arhgef11 A G 3: 87,590,867 (GRCm39) D36G possibly damaging Het
Ccnt1 A G 15: 98,452,514 (GRCm39) V134A probably damaging Het
Ces1e T C 8: 93,944,245 (GRCm39) H191R probably damaging Het
Dhh A G 15: 98,796,101 (GRCm39) probably benign Het
Edil3 C A 13: 89,437,652 (GRCm39) H418N probably benign Het
Fam161b T C 12: 84,402,743 (GRCm39) I296V probably benign Het
Focad T A 4: 88,047,260 (GRCm39) N86K probably damaging Het
Foxn1 C T 11: 78,262,109 (GRCm39) G87S probably benign Het
Glipr1l2 T C 10: 111,933,887 (GRCm39) Y220H probably benign Het
Hnrnpa1 A G 15: 103,152,166 (GRCm39) probably benign Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Itprid2 G A 2: 79,490,822 (GRCm39) R980Q probably damaging Het
Klhdc2 T A 12: 69,350,308 (GRCm39) F118I probably benign Het
Mtap T A 4: 89,090,594 (GRCm39) Y221* probably null Het
Myh2 T C 11: 67,070,210 (GRCm39) V414A probably damaging Het
Ncor2 A T 5: 125,102,848 (GRCm39) Y1999N probably damaging Het
Or5d39 A G 2: 87,979,604 (GRCm39) F253S possibly damaging Het
Oxsm A G 14: 16,242,023 (GRCm38) S249P probably damaging Het
Pabpc4l T A 3: 46,401,507 (GRCm39) I46F possibly damaging Het
Pcnx2 A G 8: 126,589,975 (GRCm39) probably benign Het
Rasal2 A G 1: 157,239,499 (GRCm39) S4P possibly damaging Het
Reln A G 5: 22,185,115 (GRCm39) V1534A probably damaging Het
Rnf138 T A 18: 21,154,017 (GRCm39) D174E possibly damaging Het
Sh3pxd2a T A 19: 47,302,594 (GRCm39) N162Y probably benign Het
Slc6a4 A T 11: 76,914,006 (GRCm39) T519S probably benign Het
Slfn9 A T 11: 82,872,197 (GRCm39) C846* probably null Het
Trip12 A G 1: 84,702,485 (GRCm39) S1945P possibly damaging Het
Vmn1r232 A G 17: 21,134,394 (GRCm39) F69L probably benign Het
Zeb2 T C 2: 44,887,287 (GRCm39) D545G probably damaging Het
Other mutations in Ipo11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00693:Ipo11 APN 13 107,033,768 (GRCm39) missense probably damaging 1.00
IGL00971:Ipo11 APN 13 106,993,277 (GRCm39) missense probably damaging 1.00
IGL01023:Ipo11 APN 13 107,033,767 (GRCm39) missense probably benign 0.44
IGL01331:Ipo11 APN 13 106,932,254 (GRCm39) missense possibly damaging 0.92
IGL01608:Ipo11 APN 13 106,971,002 (GRCm39) intron probably benign
IGL02021:Ipo11 APN 13 106,993,745 (GRCm39) missense probably damaging 1.00
IGL02620:Ipo11 APN 13 107,012,789 (GRCm39) critical splice acceptor site probably null
IGL02651:Ipo11 APN 13 107,012,114 (GRCm39) missense probably damaging 1.00
IGL02699:Ipo11 APN 13 107,025,905 (GRCm39) missense possibly damaging 0.94
IGL02928:Ipo11 APN 13 107,025,863 (GRCm39) splice site probably benign
R0017:Ipo11 UTSW 13 107,023,238 (GRCm39) missense probably benign 0.00
R0017:Ipo11 UTSW 13 107,023,238 (GRCm39) missense probably benign 0.00
R0032:Ipo11 UTSW 13 106,970,971 (GRCm39) intron probably benign
R0164:Ipo11 UTSW 13 107,046,702 (GRCm39) splice site probably benign
R0333:Ipo11 UTSW 13 107,007,271 (GRCm39) missense probably benign 0.00
R0499:Ipo11 UTSW 13 107,061,595 (GRCm39) missense probably benign 0.00
R0555:Ipo11 UTSW 13 107,028,969 (GRCm39) missense probably damaging 1.00
R0718:Ipo11 UTSW 13 107,056,119 (GRCm39) missense possibly damaging 0.91
R0899:Ipo11 UTSW 13 107,037,324 (GRCm39) nonsense probably null
R1590:Ipo11 UTSW 13 107,023,225 (GRCm39) missense probably damaging 1.00
R1700:Ipo11 UTSW 13 106,932,170 (GRCm39) missense probably benign
R1851:Ipo11 UTSW 13 106,948,765 (GRCm39) missense possibly damaging 0.73
R1852:Ipo11 UTSW 13 106,948,765 (GRCm39) missense possibly damaging 0.73
R1853:Ipo11 UTSW 13 106,997,395 (GRCm39) missense probably benign 0.19
R2012:Ipo11 UTSW 13 107,056,130 (GRCm39) missense probably benign 0.01
R2168:Ipo11 UTSW 13 107,016,118 (GRCm39) splice site probably null
R2183:Ipo11 UTSW 13 107,061,595 (GRCm39) missense probably benign 0.00
R4254:Ipo11 UTSW 13 107,029,017 (GRCm39) missense probably benign 0.00
R4607:Ipo11 UTSW 13 107,037,319 (GRCm39) missense probably damaging 0.98
R4610:Ipo11 UTSW 13 107,016,245 (GRCm39) missense probably benign 0.06
R4654:Ipo11 UTSW 13 106,970,692 (GRCm39) intron probably benign
R4792:Ipo11 UTSW 13 106,970,668 (GRCm39) intron probably benign
R4990:Ipo11 UTSW 13 106,997,395 (GRCm39) missense probably benign 0.19
R5309:Ipo11 UTSW 13 106,970,481 (GRCm39) intron probably benign
R5580:Ipo11 UTSW 13 107,037,255 (GRCm39) missense probably benign
R5822:Ipo11 UTSW 13 106,984,926 (GRCm39) unclassified probably benign
R6459:Ipo11 UTSW 13 107,002,277 (GRCm39) splice site probably null
R6597:Ipo11 UTSW 13 107,002,371 (GRCm39) critical splice donor site probably null
R6803:Ipo11 UTSW 13 106,993,766 (GRCm39) missense probably benign
R6882:Ipo11 UTSW 13 107,037,190 (GRCm39) splice site probably null
R7071:Ipo11 UTSW 13 107,061,604 (GRCm39) missense probably damaging 1.00
R7202:Ipo11 UTSW 13 107,012,078 (GRCm39) missense probably damaging 1.00
R7214:Ipo11 UTSW 13 107,032,365 (GRCm39) missense probably null
R7221:Ipo11 UTSW 13 107,029,065 (GRCm39) missense probably damaging 1.00
R7392:Ipo11 UTSW 13 107,028,199 (GRCm39) nonsense probably null
R7871:Ipo11 UTSW 13 107,028,976 (GRCm39) missense probably benign 0.01
R8189:Ipo11 UTSW 13 107,061,604 (GRCm39) missense probably damaging 1.00
R8426:Ipo11 UTSW 13 106,978,678 (GRCm39) missense possibly damaging 0.92
R8951:Ipo11 UTSW 13 106,978,690 (GRCm39) missense possibly damaging 0.80
R8981:Ipo11 UTSW 13 107,061,633 (GRCm39) missense probably benign 0.18
R9272:Ipo11 UTSW 13 107,046,713 (GRCm39) missense probably benign 0.00
R9765:Ipo11 UTSW 13 107,061,556 (GRCm39) missense probably damaging 1.00
Posted On 2013-04-17