Incidental Mutation 'R1481:Kpnb1'
ID 164391
Institutional Source Beutler Lab
Gene Symbol Kpnb1
Ensembl Gene ENSMUSG00000001440
Gene Name karyopherin (importin) beta 1
Synonyms Impnb
MMRRC Submission 039534-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1481 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 97159714-97187881 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 97178310 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 249 (Y249C)
Ref Sequence ENSEMBL: ENSMUSP00000001479 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001479]
AlphaFold P70168
Crystal structure of Importin-beta and SREBP-2 complex [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000001479
AA Change: Y249C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000001479
Gene: ENSMUSG00000001440
AA Change: Y249C

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
Meta Mutation Damage Score 0.7123 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.6%
Validation Efficiency 100% (71/71)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T C 3: 37,008,434 (GRCm38) V3365A probably damaging Het
Arhgef5 A G 6: 43,274,634 (GRCm38) H773R probably damaging Het
Bmp3 G A 5: 98,872,470 (GRCm38) V251M probably damaging Het
Ccdc175 C A 12: 72,101,948 (GRCm38) probably benign Het
Ccdc178 C T 18: 22,105,621 (GRCm38) G313D probably benign Het
Cd300ld2 T A 11: 115,012,633 (GRCm38) I129F probably benign Het
Cep170 T C 1: 176,782,385 (GRCm38) Q120R possibly damaging Het
Ckb T C 12: 111,671,262 (GRCm38) H145R probably benign Het
Cntnap5a T A 1: 116,117,663 (GRCm38) N336K probably damaging Het
Coil T A 11: 88,974,060 (GRCm38) C38S possibly damaging Het
Cps1 T C 1: 67,143,882 (GRCm38) V133A probably damaging Het
Cspg4 A G 9: 56,887,810 (GRCm38) E943G probably damaging Het
Cyp2c54 C T 19: 40,047,588 (GRCm38) D293N probably benign Het
Cyp2f2 T C 7: 27,121,877 (GRCm38) S72P probably benign Het
Dip2c G A 13: 9,551,866 (GRCm38) probably null Het
Dock6 T C 9: 21,820,622 (GRCm38) T1158A probably benign Het
Dscaml1 G A 9: 45,672,643 (GRCm38) V469I probably benign Het
Efcab14 A G 4: 115,756,517 (GRCm38) T221A probably benign Het
Ehbp1 T C 11: 22,006,782 (GRCm38) *1207W probably null Het
Eln T C 5: 134,706,572 (GRCm38) K786E probably damaging Het
Fyb C T 15: 6,619,647 (GRCm38) P385S probably benign Het
Galr1 A G 18: 82,405,741 (GRCm38) I137T possibly damaging Het
Gcm1 A T 9: 78,059,717 (GRCm38) K73* probably null Het
Gemin5 T C 11: 58,141,654 (GRCm38) N775D probably damaging Het
Gli3 C T 13: 15,613,850 (GRCm38) H147Y probably damaging Het
Gm10754 G T 10: 97,682,227 (GRCm38) probably benign Het
Gpr37 T C 6: 25,669,138 (GRCm38) D569G probably damaging Het
Grina T A 15: 76,249,089 (GRCm38) Y286N probably damaging Het
Gtf3c1 C A 7: 125,693,138 (GRCm38) probably null Het
Kcnc4 C T 3: 107,448,218 (GRCm38) V305M probably benign Het
Kntc1 T C 5: 123,778,275 (GRCm38) F724L probably benign Het
Krt6b T C 15: 101,678,374 (GRCm38) T269A probably benign Het
Lamc1 T C 1: 153,221,634 (GRCm38) K1555E probably damaging Het
Maneal T C 4: 124,861,857 (GRCm38) Y104C probably damaging Het
Map1b T C 13: 99,431,171 (GRCm38) T1681A unknown Het
Mettl17 T C 14: 51,890,703 (GRCm38) L272P probably benign Het
Mib2 T A 4: 155,656,999 (GRCm38) S357C probably benign Het
Mmp19 C A 10: 128,798,178 (GRCm38) T316K possibly damaging Het
Mroh9 C T 1: 163,026,509 (GRCm38) G774E probably damaging Het
Myh1 T C 11: 67,205,499 (GRCm38) probably benign Het
Ncor2 C A 5: 125,027,138 (GRCm38) E963* probably null Het
Nol6 T A 4: 41,123,596 (GRCm38) T51S probably benign Het
Nsun3 A T 16: 62,735,369 (GRCm38) C265S probably damaging Het
Nup214 C T 2: 32,034,466 (GRCm38) S1669F probably damaging Het
Nutm2 T A 13: 50,469,481 (GRCm38) N71K probably damaging Het
Olfr498 C T 7: 108,465,960 (GRCm38) T212I probably benign Het
Olfr713 T G 7: 107,036,149 (GRCm38) L5R probably benign Het
Orc3 T A 4: 34,607,228 (GRCm38) E34V possibly damaging Het
Pcdhb13 T A 18: 37,442,836 (GRCm38) L89Q probably damaging Het
Polr3a A T 14: 24,452,548 (GRCm38) V1241E probably null Het
Prpf39 C T 12: 65,053,314 (GRCm38) P135S probably damaging Het
Psrc1 T C 3: 108,384,993 (GRCm38) V34A probably benign Het
Rab27a G A 9: 73,082,402 (GRCm38) V52M probably benign Het
Rassf9 A G 10: 102,546,034 (GRCm38) T424A probably benign Het
Ripor3 G T 2: 168,000,377 (GRCm38) R61S possibly damaging Het
Ryr3 C T 2: 112,636,522 (GRCm38) probably benign Het
Samd4b C T 7: 28,414,010 (GRCm38) G177R probably damaging Het
Setbp1 C T 18: 78,783,301 (GRCm38) V1366M probably benign Het
Smad1 G A 8: 79,343,730 (GRCm38) A393V probably benign Het
Tctn2 T C 5: 124,607,763 (GRCm38) noncoding transcript Het
Tmem45a A T 16: 56,811,602 (GRCm38) F218I possibly damaging Het
Tpte A T 8: 22,355,471 (GRCm38) R512S probably damaging Het
Trim37 T A 11: 87,129,759 (GRCm38) L22* probably null Het
Ttc6 A G 12: 57,737,130 (GRCm38) N1792D probably damaging Het
Ttn A G 2: 76,945,616 (GRCm38) M1694T probably damaging Het
Vmn1r181 T A 7: 23,984,712 (GRCm38) W201R probably damaging Het
Wdr74 C T 19: 8,738,228 (GRCm38) L198F possibly damaging Het
Zfp560 T C 9: 20,348,790 (GRCm38) T259A probably benign Het
Other mutations in Kpnb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01284:Kpnb1 APN 11 97,166,102 (GRCm38) missense probably damaging 1.00
IGL01919:Kpnb1 APN 11 97,164,730 (GRCm38) missense probably benign
IGL02161:Kpnb1 APN 11 97,168,936 (GRCm38) missense probably benign 0.01
IGL02679:Kpnb1 APN 11 97,177,260 (GRCm38) missense possibly damaging 0.92
IGL02866:Kpnb1 APN 11 97,177,286 (GRCm38) missense probably damaging 0.99
IGL02899:Kpnb1 APN 11 97,175,786 (GRCm38) missense probably damaging 1.00
R0373:Kpnb1 UTSW 11 97,185,090 (GRCm38) missense probably damaging 1.00
R0542:Kpnb1 UTSW 11 97,187,572 (GRCm38) missense probably benign 0.12
R0724:Kpnb1 UTSW 11 97,178,304 (GRCm38) missense probably damaging 1.00
R0825:Kpnb1 UTSW 11 97,171,675 (GRCm38) missense probably damaging 0.98
R0853:Kpnb1 UTSW 11 97,187,411 (GRCm38) missense probably damaging 0.97
R3802:Kpnb1 UTSW 11 97,166,129 (GRCm38) missense possibly damaging 0.92
R4458:Kpnb1 UTSW 11 97,169,170 (GRCm38) missense probably damaging 1.00
R4490:Kpnb1 UTSW 11 97,171,598 (GRCm38) missense probably benign
R4757:Kpnb1 UTSW 11 97,177,334 (GRCm38) missense possibly damaging 0.65
R5500:Kpnb1 UTSW 11 97,173,111 (GRCm38) missense possibly damaging 0.94
R6360:Kpnb1 UTSW 11 97,173,270 (GRCm38) missense probably benign
R6494:Kpnb1 UTSW 11 97,181,648 (GRCm38) missense probably benign 0.04
R7678:Kpnb1 UTSW 11 97,169,173 (GRCm38) missense probably damaging 1.00
R8171:Kpnb1 UTSW 11 97,175,747 (GRCm38) critical splice donor site probably null
R8874:Kpnb1 UTSW 11 97,165,383 (GRCm38) missense probably benign 0.25
R9318:Kpnb1 UTSW 11 97,163,458 (GRCm38) missense probably benign
R9621:Kpnb1 UTSW 11 97,167,634 (GRCm38) missense probably benign 0.04
Predicted Primers PCR Primer

Sequencing Primer
(F):5'- ccattcatcaggggactcac -3'
Posted On 2014-03-28