Incidental Mutation 'R6360:Kpnb1'
ID 513080
Institutional Source Beutler Lab
Gene Symbol Kpnb1
Ensembl Gene ENSMUSG00000001440
Gene Name karyopherin subunit beta 1
Synonyms Impnb
MMRRC Submission 044510-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6360 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 97050540-97078707 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 97064096 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 336 (N336S)
Ref Sequence ENSEMBL: ENSMUSP00000001479 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001479]
AlphaFold P70168
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 benign
Transcript: ENSMUST00000001479
AA Change: N336S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000001479
Gene: ENSMUSG00000001440
AA Change: N336S

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
Meta Mutation Damage Score 0.0589 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency 98% (59/60)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap10 G A 8: 77,985,831 (GRCm39) Q657* probably null Het
Car15 T C 16: 17,655,930 (GRCm39) T560A probably benign Het
Cass4 C T 2: 172,274,531 (GRCm39) H769Y probably damaging Het
Cdh6 A G 15: 13,041,546 (GRCm39) I506T possibly damaging Het
Clstn3 G T 6: 124,415,388 (GRCm39) R659S possibly damaging Het
Cntnap5b C T 1: 100,359,461 (GRCm39) R695* probably null Het
Cpsf1 CCCCTGCATGAGGCAGGTCCC CCCC 15: 76,481,655 (GRCm39) probably null Het
Dab2ip A G 2: 35,600,278 (GRCm39) H355R probably benign Het
Dennd2a C T 6: 39,470,076 (GRCm39) A539T probably benign Het
Dnajc18 T C 18: 35,819,762 (GRCm39) E173G probably damaging Het
Dock7 T C 4: 98,857,899 (GRCm39) I1472V probably benign Het
Esco1 A T 18: 10,574,931 (GRCm39) F714I probably damaging Het
Fam107a T G 14: 8,299,619 (GRCm38) H73P probably damaging Het
Flg A G 3: 93,197,908 (GRCm39) probably benign Het
Fyn C A 10: 39,402,879 (GRCm39) T217K possibly damaging Het
Gbp9 T C 5: 105,231,596 (GRCm39) D330G probably benign Het
Gin1 T C 1: 97,720,264 (GRCm39) S509P possibly damaging Het
Gm17067 A C 7: 42,357,906 (GRCm39) S199A probably benign Het
Grk4 A T 5: 34,831,881 (GRCm39) K50M probably damaging Het
Inpp4b A G 8: 82,629,481 (GRCm39) H272R probably benign Het
Ipo7 T A 7: 109,626,336 (GRCm39) L48Q probably damaging Het
Kbtbd2 A G 6: 56,756,191 (GRCm39) I515T probably damaging Het
Kcnu1 T A 8: 26,351,208 (GRCm39) S190R possibly damaging Het
Lbr G T 1: 181,659,720 (GRCm39) D158E probably benign Het
Mphosph10 T C 7: 64,039,703 (GRCm39) Q89R probably benign Het
Nectin3 T A 16: 46,231,472 (GRCm39) T21S probably benign Het
Numb C A 12: 83,844,036 (GRCm39) R383L probably damaging Het
Or2p2 A T 13: 21,256,753 (GRCm39) N239K probably damaging Het
Or9a7 G T 6: 40,521,647 (GRCm39) Q89K possibly damaging Het
Pcdhb11 A T 18: 37,555,212 (GRCm39) I181F probably benign Het
Pcgf2 T A 11: 97,583,235 (GRCm39) probably null Het
Pdzd8 T C 19: 59,289,415 (GRCm39) T662A probably benign Het
Pex13 A C 11: 23,605,690 (GRCm39) V180G probably benign Het
Pira1 A T 7: 3,739,503 (GRCm39) L455Q probably damaging Het
Pkp4 T A 2: 59,045,091 (GRCm39) V22D probably benign Het
Prkn T C 17: 12,222,939 (GRCm39) F363S probably damaging Het
Prpf4b A C 13: 35,085,416 (GRCm39) D954A probably damaging Het
Rfx8 T C 1: 39,720,125 (GRCm39) I317V probably benign Het
Rnaseh2b T C 14: 62,598,868 (GRCm39) S198P probably damaging Het
Rock1 A T 18: 10,116,778 (GRCm39) C453S possibly damaging Het
Saxo4 T C 19: 10,456,845 (GRCm39) N167D probably damaging Het
Scarf1 G T 11: 75,406,495 (GRCm39) G260W probably damaging Het
Scyl1 T C 19: 5,810,599 (GRCm39) E538G probably damaging Het
Sec14l5 A T 16: 4,990,859 (GRCm39) I267F probably damaging Het
Senp6 T A 9: 80,021,088 (GRCm39) V256D probably benign Het
Sf3b4 G A 3: 96,084,044 (GRCm39) probably benign Het
Ssh1 T C 5: 114,099,408 (GRCm39) probably null Het
Tas2r143 A C 6: 42,377,769 (GRCm39) M200L probably benign Het
Tbc1d22a C T 15: 86,098,830 (GRCm39) P19S probably damaging Het
Tent5b T C 4: 133,214,067 (GRCm39) F313L probably damaging Het
Tmc5 T A 7: 118,233,189 (GRCm39) M1K probably null Het
Tnc T C 4: 63,918,970 (GRCm39) Y1151C probably damaging Het
Tshz3 A G 7: 36,468,866 (GRCm39) E285G probably damaging Het
Txndc11 C T 16: 10,902,656 (GRCm39) V664M probably damaging Het
Ube2g1 A T 11: 72,553,908 (GRCm39) N20Y probably damaging Het
Ufl1 T A 4: 25,265,476 (GRCm39) I369L probably benign Het
Vwf A T 6: 125,660,489 (GRCm39) T2666S probably benign Het
Yif1a A G 19: 5,142,369 (GRCm39) M259V probably benign Het
Zbtb46 T C 2: 181,033,248 (GRCm39) D471G probably damaging Het
Other mutations in Kpnb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01284:Kpnb1 APN 11 97,056,928 (GRCm39) missense probably damaging 1.00
IGL01919:Kpnb1 APN 11 97,055,556 (GRCm39) missense probably benign
IGL02161:Kpnb1 APN 11 97,059,762 (GRCm39) missense probably benign 0.01
IGL02679:Kpnb1 APN 11 97,068,086 (GRCm39) missense possibly damaging 0.92
IGL02866:Kpnb1 APN 11 97,068,112 (GRCm39) missense probably damaging 0.99
IGL02899:Kpnb1 APN 11 97,066,612 (GRCm39) missense probably damaging 1.00
R0373:Kpnb1 UTSW 11 97,075,916 (GRCm39) missense probably damaging 1.00
R0542:Kpnb1 UTSW 11 97,078,398 (GRCm39) missense probably benign 0.12
R0724:Kpnb1 UTSW 11 97,069,130 (GRCm39) missense probably damaging 1.00
R0825:Kpnb1 UTSW 11 97,062,501 (GRCm39) missense probably damaging 0.98
R0853:Kpnb1 UTSW 11 97,078,237 (GRCm39) missense probably damaging 0.97
R1481:Kpnb1 UTSW 11 97,069,136 (GRCm39) missense probably damaging 1.00
R3802:Kpnb1 UTSW 11 97,056,955 (GRCm39) missense possibly damaging 0.92
R4458:Kpnb1 UTSW 11 97,059,996 (GRCm39) missense probably damaging 1.00
R4490:Kpnb1 UTSW 11 97,062,424 (GRCm39) missense probably benign
R4757:Kpnb1 UTSW 11 97,068,160 (GRCm39) missense possibly damaging 0.65
R5500:Kpnb1 UTSW 11 97,063,937 (GRCm39) missense possibly damaging 0.94
R6494:Kpnb1 UTSW 11 97,072,474 (GRCm39) missense probably benign 0.04
R7678:Kpnb1 UTSW 11 97,059,999 (GRCm39) missense probably damaging 1.00
R8171:Kpnb1 UTSW 11 97,066,573 (GRCm39) critical splice donor site probably null
R8874:Kpnb1 UTSW 11 97,056,209 (GRCm39) missense probably benign 0.25
R9318:Kpnb1 UTSW 11 97,054,284 (GRCm39) missense probably benign
R9621:Kpnb1 UTSW 11 97,058,460 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- GCCAAAAGCCATCACTGCTG -3'
(R):5'- CAAGCCTTCTAAGTGAATTCATTGC -3'

Sequencing Primer
(F):5'- ACTGCTGCATCCCGGTATCG -3'
(R):5'- AAAGCTTACTTAGGCTGGGC -3'
Posted On 2018-04-27