Incidental Mutation 'IGL02651:Ipo11'
ID 302152
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 # IGL02651
Quality Score
Status
Chromosome 13
Chromosomal Location 106930947-107073466 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 107012114 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 556 (Y556C)
Ref Sequence ENSEMBL: ENSMUSP00000140046 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080856] [ENSMUST00000186033]
AlphaFold Q8K2V6
Predicted Effect probably damaging
Transcript: ENSMUST00000080856
AA Change: Y556C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000079667
Gene: ENSMUSG00000042590
AA Change: Y556C

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: Y556C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140046
Gene: ENSMUSG00000042590
AA Change: Y556C

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
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf G A 19: 31,909,906 (GRCm39) G233S probably benign Het
Abcc1 T A 16: 14,283,990 (GRCm39) C1202S probably benign Het
Acaca C T 11: 84,136,030 (GRCm39) probably benign Het
Ap3b1 T A 13: 94,613,529 (GRCm39) F676Y probably damaging Het
Arhgef11 C A 3: 87,606,171 (GRCm39) Q309K probably damaging Het
Asgr1 T C 11: 69,947,956 (GRCm39) Y80H possibly damaging Het
Atp13a5 A T 16: 29,152,909 (GRCm39) probably benign Het
Atp2a3 C A 11: 72,866,165 (GRCm39) H262N probably benign Het
Atp8b2 A C 3: 89,861,896 (GRCm39) probably null Het
Btnl2 A G 17: 34,575,196 (GRCm39) M1V probably null Het
Cpsf3 T A 12: 21,343,298 (GRCm39) M121K probably damaging Het
Creb3l3 A G 10: 80,920,668 (GRCm39) I454T probably benign Het
Cyp2d12 A G 15: 82,440,941 (GRCm39) E153G probably damaging Het
Dnah5 A G 15: 28,350,768 (GRCm39) I2597V probably benign Het
Ercc5 C A 1: 44,196,104 (GRCm39) S32R probably damaging Het
Fchsd2 T A 7: 100,926,807 (GRCm39) N656K possibly damaging Het
Fga G A 3: 82,935,841 (GRCm39) E23K probably benign Het
Fn1 T C 1: 71,636,835 (GRCm39) T1925A possibly damaging Het
Fstl5 A T 3: 76,500,841 (GRCm39) E423D probably damaging Het
Glg1 C T 8: 111,887,359 (GRCm39) M465I possibly damaging Het
H2-M10.4 C A 17: 36,771,548 (GRCm39) R210L probably benign Het
Hbb-y T G 7: 103,501,957 (GRCm39) K105Q probably benign Het
Hspg2 A T 4: 137,284,756 (GRCm39) probably benign Het
Itpr3 A G 17: 27,325,372 (GRCm39) M1322V probably damaging Het
Jhy A G 9: 40,828,631 (GRCm39) L425P probably damaging Het
Krt26 C T 11: 99,224,471 (GRCm39) R349Q probably benign Het
Ms4a6c A T 19: 11,455,669 (GRCm39) E159D possibly damaging Het
Msh6 A T 17: 88,296,943 (GRCm39) L1213F probably damaging Het
Npy1r A C 8: 67,157,675 (GRCm39) R328S possibly damaging Het
Or4a74 A T 2: 89,439,842 (GRCm39) N201K possibly damaging Het
Or5ak20 A C 2: 85,183,394 (GRCm39) L292R probably damaging Het
Pcdhb18 T G 18: 37,624,234 (GRCm39) Y521* probably null Het
Pkhd1l1 A T 15: 44,347,210 (GRCm39) Y192F probably damaging Het
Rdh12 T A 12: 79,268,826 (GRCm39) I301N probably damaging Het
Rptor T C 11: 119,783,438 (GRCm39) V1144A possibly damaging Het
Sap25 T C 5: 137,640,632 (GRCm39) F171L possibly damaging Het
Senp5 A G 16: 31,808,897 (GRCm39) L92P probably benign Het
Sfmbt1 T C 14: 30,537,494 (GRCm39) S736P probably damaging Het
Tacr1 T C 6: 82,469,622 (GRCm39) S169P probably damaging Het
Tbc1d21 A T 9: 58,270,384 (GRCm39) Y130* probably null Het
Tle2 G A 10: 81,422,723 (GRCm39) G428D probably damaging Het
Tmem117 T A 15: 94,992,442 (GRCm39) N367K probably damaging Het
Tmem210 A G 2: 25,179,101 (GRCm39) T130A possibly damaging Het
Ttn T G 2: 76,680,368 (GRCm39) probably benign Het
Ttyh1 T C 7: 4,127,678 (GRCm39) L122P probably damaging Het
Vmn2r60 T C 7: 41,845,010 (GRCm39) F791S probably damaging Het
Vps13d A T 4: 144,891,129 (GRCm39) N575K probably benign Het
Vps8 T C 16: 21,336,086 (GRCm39) V746A probably damaging Het
Wdfy3 A T 5: 102,044,341 (GRCm39) M1888K probably benign Het
Zfp595 T C 13: 67,469,017 (GRCm39) D3G probably benign Het
Other mutations in Ipo11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00693:Ipo11 APN 13 107,033,768 (GRCm39) missense probably damaging 1.00
IGL00900:Ipo11 APN 13 106,983,952 (GRCm39) missense possibly damaging 0.81
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
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 2015-04-16