Incidental Mutation 'IGL02899:Kpnb1'
ID363511
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kpnb1
Ensembl Gene ENSMUSG00000001440
Gene Namekaryopherin (importin) beta 1
SynonymsImpnb
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02899
Quality Score
Status
Chromosome11
Chromosomal Location97159714-97187881 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 97175786 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 321 (Y321C)
Ref Sequence ENSEMBL: ENSMUSP00000001479 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001479]
PDB Structure N-TERMINAL FRAGMENT OF IMPORTIN-BETA [X-RAY DIFFRACTION]
Crystal structure of Importin-beta and SREBP-2 complex [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000001479
AA Change: Y321C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000001479
Gene: ENSMUSG00000001440
AA Change: Y321C

DomainStartEndE-ValueType
IBN_N 21 101 3.72e-5 SMART
Blast:ARM 158 203 4e-7 BLAST
Pfam:HEAT_EZ 380 435 3e-13 PFAM
Pfam:HEAT 409 439 2.6e-7 PFAM
Blast:ARM 440 477 7e-17 BLAST
low complexity region 478 495 N/A INTRINSIC
Blast:IBN_N 528 590 9e-25 BLAST
Blast:ARM 594 637 1e-18 BLAST
Blast:ARM 784 827 1e-5 BLAST
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Nucleocytoplasmic transport, a signal- and energy-dependent process, takes place through nuclear pore complexes embedded in the nuclear envelope. The import of proteins containing a nuclear localization signal (NLS) requires the NLS import receptor, a heterodimer of importin alpha and beta subunits also known as karyopherins. Importin alpha binds the NLS-containing cargo in the cytoplasm and importin beta docks the complex at the cytoplasmic side of the nuclear pore complex. In the presence of nucleoside triphosphates and the small GTP binding protein Ran, the complex moves into the nuclear pore complex and the importin subunits dissociate. Importin alpha enters the nucleoplasm with its passenger protein and importin beta remains at the pore. Interactions between importin beta and the FG repeats of nucleoporins are essential in translocation through the pore complex. The protein encoded by this gene is a member of the importin beta family. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013]
PHENOTYPE: Homozygous mutation of this gene results in lethality shortly after implantation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1300017J02Rik C A 9: 103,277,574 V173L probably damaging Het
Arfgef2 A G 2: 166,869,051 probably benign Het
Btbd7 A G 12: 102,837,662 L373P probably damaging Het
Capn3 A G 2: 120,491,901 N414S possibly damaging Het
Ccdc186 A T 19: 56,793,488 I753N probably benign Het
Ccser2 G A 14: 36,940,759 T156I probably benign Het
Celsr1 A G 15: 86,031,726 M682T probably damaging Het
Cep97 C A 16: 55,918,540 S267I probably damaging Het
Dhx35 A G 2: 158,801,450 Y39C probably damaging Het
Dscam A T 16: 96,709,247 D937E probably damaging Het
Elmod2 A G 8: 83,316,933 Y202H probably damaging Het
Fyco1 T C 9: 123,830,331 N260S possibly damaging Het
Gm5591 A G 7: 38,519,418 L677P probably damaging Het
Gmppa A G 1: 75,441,830 probably null Het
Hltf C T 3: 20,099,817 T639I probably damaging Het
Lgr4 G A 2: 109,918,253 G45R probably damaging Het
Ltn1 T C 16: 87,382,659 D1538G probably benign Het
Maf1 T A 15: 76,353,020 probably benign Het
Morn5 T C 2: 36,055,037 F91S probably damaging Het
Ncan C T 8: 70,115,048 R138H possibly damaging Het
Olfr1328 A T 4: 118,934,662 M62K probably damaging Het
Olfr203 G T 16: 59,303,286 L44F probably damaging Het
Parg T C 14: 32,238,574 L82S probably damaging Het
Ppp2r2b A T 18: 42,645,809 H417Q probably damaging Het
Rb1cc1 T C 1: 6,264,583 L98P probably damaging Het
Ryr1 C A 7: 29,048,795 V3752L possibly damaging Het
Slc25a12 A G 2: 71,279,635 L489P probably damaging Het
Slc38a8 C T 8: 119,485,543 V354M probably benign Het
Slf2 A G 19: 44,942,020 E512G probably benign Het
Tarbp1 A G 8: 126,453,844 M597T probably damaging Het
Tgfb3 G A 12: 86,069,776 R163C probably damaging Het
Tmco5b A G 2: 113,296,920 M279V probably benign Het
Ttll9 G A 2: 153,002,951 G413D probably damaging Het
Tut1 A G 19: 8,962,387 D245G probably damaging Het
Usf3 T A 16: 44,221,226 V2023E probably damaging Het
Vps33a C T 5: 123,531,176 G554D probably damaging Het
Zfp27 C A 7: 29,896,255 R95M possibly damaging Het
Other mutations in Kpnb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01284:Kpnb1 APN 11 97166102 missense probably damaging 1.00
IGL01919:Kpnb1 APN 11 97164730 missense probably benign
IGL02161:Kpnb1 APN 11 97168936 missense probably benign 0.01
IGL02679:Kpnb1 APN 11 97177260 missense possibly damaging 0.92
IGL02866:Kpnb1 APN 11 97177286 missense probably damaging 0.99
R0373:Kpnb1 UTSW 11 97185090 missense probably damaging 1.00
R0542:Kpnb1 UTSW 11 97187572 missense probably benign 0.12
R0724:Kpnb1 UTSW 11 97178304 missense probably damaging 1.00
R0825:Kpnb1 UTSW 11 97171675 missense probably damaging 0.98
R0853:Kpnb1 UTSW 11 97187411 missense probably damaging 0.97
R1481:Kpnb1 UTSW 11 97178310 missense probably damaging 1.00
R3802:Kpnb1 UTSW 11 97166129 missense possibly damaging 0.92
R4458:Kpnb1 UTSW 11 97169170 missense probably damaging 1.00
R4490:Kpnb1 UTSW 11 97171598 missense probably benign
R4757:Kpnb1 UTSW 11 97177334 missense possibly damaging 0.65
R5500:Kpnb1 UTSW 11 97173111 missense possibly damaging 0.94
R6360:Kpnb1 UTSW 11 97173270 missense probably benign
R6494:Kpnb1 UTSW 11 97181648 missense probably benign 0.04
R7678:Kpnb1 UTSW 11 97169173 missense probably damaging 1.00
R8171:Kpnb1 UTSW 11 97175747 critical splice donor site probably null
Posted On2015-12-18