Incidental Mutation 'R5500:Kpnb1'
ID 430573
Institutional Source Beutler Lab
Gene Symbol Kpnb1
Ensembl Gene ENSMUSG00000001440
Gene Name karyopherin subunit beta 1
Synonyms Impnb
MMRRC Submission 043061-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5500 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 97050540-97078707 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 97063937 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 389 (A389V)
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 possibly damaging
Transcript: ENSMUST00000001479
AA Change: A389V

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000001479
Gene: ENSMUSG00000001440
AA Change: A389V

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
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.2%
  • 20x: 90.6%
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A T 13: 77,451,508 (GRCm39) Q864L probably benign Het
AI182371 A G 2: 34,990,650 (GRCm39) S16P probably damaging Het
Amy1 A T 3: 113,356,371 (GRCm39) Y262N probably damaging Het
Cdh23 T C 10: 60,150,090 (GRCm39) D2583G probably damaging Het
Ddx60 A G 8: 62,403,485 (GRCm39) K303E probably benign Het
Dis3l2 T C 1: 86,948,841 (GRCm39) probably null Het
Evi5l T A 8: 4,241,658 (GRCm39) M329K probably damaging Het
Fam169b A G 7: 68,000,117 (GRCm39) D221G probably damaging Het
Farsb T C 1: 78,447,761 (GRCm39) D126G probably damaging Het
Gm4847 A G 1: 166,462,611 (GRCm39) I293T probably damaging Het
Ighmbp2 T C 19: 3,318,687 (GRCm39) H463R possibly damaging Het
Iigp1c G A 18: 60,379,092 (GRCm39) R209H probably damaging Het
Kank1 A T 19: 25,401,696 (GRCm39) D1101V possibly damaging Het
Kcnh8 G A 17: 53,033,008 (GRCm39) M98I probably benign Het
Kdsr A G 1: 106,687,374 (GRCm39) probably benign Het
Kif18b A T 11: 102,806,526 (GRCm39) V107E probably damaging Het
Klhl41 A G 2: 69,513,873 (GRCm39) E584G probably damaging Het
Krtap31-2 A G 11: 99,827,173 (GRCm39) T2A possibly damaging Het
Lama3 A T 18: 12,589,821 (GRCm39) I784F possibly damaging Het
Lpar1 G A 4: 58,486,573 (GRCm39) R233C probably benign Het
Neb C A 2: 52,052,079 (GRCm39) probably null Het
Neo1 A G 9: 58,824,337 (GRCm39) I697T possibly damaging Het
Ntaq1 T C 15: 58,016,006 (GRCm39) V85A possibly damaging Het
Pgm2l1 T G 7: 99,917,340 (GRCm39) S486A probably benign Het
Prpf40a A T 2: 53,035,296 (GRCm39) S748R probably benign Het
Recql4 A G 15: 76,589,778 (GRCm39) probably benign Het
Rhbdl1 T C 17: 26,055,528 (GRCm39) T20A possibly damaging Het
Ric8a T C 7: 140,438,228 (GRCm39) Y156H probably benign Het
Rnf111 C A 9: 70,383,325 (GRCm39) G203C possibly damaging Het
Sh3bp5 C A 14: 31,099,452 (GRCm39) R265L probably benign Het
Slc2a12 G A 10: 22,541,036 (GRCm39) G297E probably damaging Het
Slc35f1 A T 10: 52,809,318 (GRCm39) I102F probably damaging Het
Slc45a2 C T 15: 11,027,871 (GRCm39) T480I probably damaging Het
Slitrk3 T C 3: 72,957,680 (GRCm39) Y364C probably damaging Het
Tdrd9 T C 12: 111,989,702 (GRCm39) Y505H probably benign Het
Tlr1 G T 5: 65,084,441 (GRCm39) D45E probably benign Het
Upp1 G A 11: 9,081,774 (GRCm39) V104M probably damaging Het
Usp9y A G Y: 1,341,875 (GRCm39) V1330A probably damaging Het
Zbed5 T A 5: 129,930,823 (GRCm39) Y257* probably null 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
R6360:Kpnb1 UTSW 11 97,064,096 (GRCm39) missense probably benign
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'- AGCAACTGACCTGTTAATCCCC -3'
(R):5'- ATCTGTCACCAGGATGAAAACG -3'

Sequencing Primer
(F):5'- TTGTAGGCCTGTGCTACGAACC -3'
(R):5'- CTGTCACCAGGATGAAAACGATGAC -3'
Posted On 2016-10-05