Incidental Mutation 'R3123:Tnpo1'
ID 264169
Institutional Source Beutler Lab
Gene Symbol Tnpo1
Ensembl Gene ENSMUSG00000009470
Gene Name transportin 1
Synonyms D13Ertd688e, Kpnb2
MMRRC Submission 040596-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.969) question?
Stock # R3123 (G1)
Quality Score 118
Status Validated
Chromosome 13
Chromosomal Location 98975527-99062892 bp(-) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) GCACCTCTGCTTCCTC to GCACCTCTGCTTCCTCACCTCTGCTTCCTC at 99003637 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000136917 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109399] [ENSMUST00000109401] [ENSMUST00000179301]
AlphaFold Q8BFY9
Predicted Effect probably null
Transcript: ENSMUST00000109399
SMART Domains Protein: ENSMUSP00000105026
Gene: ENSMUSG00000009470

DomainStartEndE-ValueType
IBN_N 33 101 1.53e-6 SMART
low complexity region 350 368 N/A INTRINSIC
low complexity region 393 410 N/A INTRINSIC
Pfam:HEAT_EZ 411 465 4.7e-12 PFAM
Pfam:HEAT 439 469 6.8e-5 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000109401
AA Change: 241
SMART Domains Protein: ENSMUSP00000105028
Gene: ENSMUSG00000009470
AA Change: 241

DomainStartEndE-ValueType
IBN_N 41 109 1.53e-6 SMART
low complexity region 358 376 N/A INTRINSIC
low complexity region 401 418 N/A INTRINSIC
Pfam:HEAT_EZ 419 473 6.6e-15 PFAM
Pfam:HEAT 447 477 1.3e-5 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000179301
SMART Domains Protein: ENSMUSP00000136917
Gene: ENSMUSG00000009470

DomainStartEndE-ValueType
IBN_N 33 101 1.53e-6 SMART
low complexity region 350 368 N/A INTRINSIC
low complexity region 393 410 N/A INTRINSIC
Pfam:HEAT_EZ 411 465 4.2e-12 PFAM
Pfam:HEAT 439 469 6.1e-5 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224022
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224099
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 100% (46/46)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the beta subunit of the karyopherin receptor complex which interacts with nuclear localization signals to target nuclear proteins to the nucleus. The karyopherin receptor complex is a heterodimer of an alpha subunit which recognizes the nuclear localization signal and a beta subunit which docks the complex at nucleoporins. Alternate splicing of this gene results in two transcript variants encoding different proteins. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ak9 A G 10: 41,234,576 (GRCm39) I646V possibly damaging Het
Atp4a G A 7: 30,419,650 (GRCm39) R671Q probably benign Het
Caskin2 T C 11: 115,695,623 (GRCm39) D246G probably damaging Het
Csn1s2b T C 5: 87,966,917 (GRCm39) probably benign Het
Ctsa T A 2: 164,677,152 (GRCm39) probably null Het
Cyp2j8 G A 4: 96,389,450 (GRCm39) probably benign Het
Dach2 T C X: 112,729,664 (GRCm39) I417T possibly damaging Het
Dcaf8l A T X: 88,448,327 (GRCm39) Y601N probably benign Het
Dhx9 T C 1: 153,341,452 (GRCm39) K599E possibly damaging Het
Duox2 A G 2: 122,111,554 (GRCm39) probably benign Het
F2rl3 T C 8: 73,489,840 (GRCm39) S356P probably damaging Het
Fem1b T C 9: 62,703,836 (GRCm39) I475V probably benign Het
Glra3 A G 8: 56,578,244 (GRCm39) R434G possibly damaging Het
Gpr75 T A 11: 30,841,709 (GRCm39) S205T possibly damaging Het
Hsd17b12 C T 2: 93,864,303 (GRCm39) R268Q probably benign Het
Htt T C 5: 34,961,875 (GRCm39) S287P probably benign Het
Ifi27l2b T C 12: 103,417,594 (GRCm39) T198A unknown Het
Kdm5d T C Y: 900,558 (GRCm39) V201A possibly damaging Het
Khdrbs2 C A 1: 32,558,858 (GRCm39) R408L probably damaging Het
Lonp1 A G 17: 56,933,488 (GRCm39) I129T possibly damaging Het
Macc1 T C 12: 119,411,368 (GRCm39) F712S probably damaging Het
Mcpt8 A T 14: 56,321,398 (GRCm39) I22K probably damaging Het
Nop2 G A 6: 125,109,164 (GRCm39) probably benign Het
Or10ag53 A T 2: 87,083,135 (GRCm39) T285S possibly damaging Het
Or2l13 A G 16: 19,305,765 (GRCm39) Y59C probably damaging Het
Or2y3 G A 17: 38,392,903 (GRCm39) probably null Het
Pkd1l1 T A 11: 8,923,021 (GRCm39) D82V unknown Het
Polr2a A T 11: 69,626,536 (GRCm39) S1566T possibly damaging Het
Ppwd1 C T 13: 104,350,198 (GRCm39) E396K possibly damaging Het
Prr30 A G 14: 101,436,425 (GRCm39) S46P probably benign Het
Pthlh A T 6: 147,164,789 (GRCm39) V27E probably damaging Het
Ptpn4 A G 1: 119,693,153 (GRCm39) probably null Het
Rad18 A T 6: 112,658,307 (GRCm39) D199E probably benign Het
Ralgps1 T C 2: 33,048,968 (GRCm39) T314A possibly damaging Het
Rbm27 A G 18: 42,460,230 (GRCm39) E764G probably damaging Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Taf15 G A 11: 83,395,154 (GRCm39) probably null Het
Tas2r140 T A 6: 133,032,204 (GRCm39) I185L probably benign Het
Tgfbr2 G A 9: 115,939,137 (GRCm39) T230M possibly damaging Het
Togaram1 G T 12: 65,013,118 (GRCm39) R123L probably damaging Het
Trappc9 G A 15: 72,897,816 (GRCm39) R377W probably damaging Het
Trim9 C T 12: 70,295,167 (GRCm39) G648R probably damaging Het
Upf1 A G 8: 70,790,133 (GRCm39) probably benign Het
Vmn2r109 C T 17: 20,761,248 (GRCm39) C703Y probably damaging Het
Zfp574 G T 7: 24,781,026 (GRCm39) A683S possibly damaging Het
Zfp777 A G 6: 48,006,050 (GRCm39) probably benign Het
Other mutations in Tnpo1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00765:Tnpo1 APN 13 98,986,612 (GRCm39) splice site probably benign
IGL02572:Tnpo1 APN 13 98,985,667 (GRCm39) missense probably damaging 1.00
IGL03040:Tnpo1 APN 13 98,996,463 (GRCm39) missense probably damaging 0.99
IGL03237:Tnpo1 APN 13 99,000,348 (GRCm39) missense probably damaging 0.98
IGL03379:Tnpo1 APN 13 99,000,348 (GRCm39) missense probably damaging 0.98
IGL03393:Tnpo1 APN 13 99,024,981 (GRCm39) missense probably damaging 0.99
IGL03405:Tnpo1 APN 13 99,000,348 (GRCm39) missense probably damaging 0.98
IGL03407:Tnpo1 APN 13 99,000,348 (GRCm39) missense probably damaging 0.98
Domineight UTSW 13 99,003,637 (GRCm39) frame shift probably null
invert UTSW 13 98,991,954 (GRCm39) missense probably damaging 1.00
R0308:Tnpo1 UTSW 13 98,983,011 (GRCm39) missense probably damaging 0.97
R0465:Tnpo1 UTSW 13 99,021,142 (GRCm39) missense probably damaging 0.97
R0492:Tnpo1 UTSW 13 98,991,954 (GRCm39) missense probably damaging 1.00
R0707:Tnpo1 UTSW 13 98,991,954 (GRCm39) missense probably damaging 1.00
R0732:Tnpo1 UTSW 13 99,000,320 (GRCm39) missense probably damaging 0.99
R1314:Tnpo1 UTSW 13 98,997,230 (GRCm39) missense probably damaging 0.99
R1449:Tnpo1 UTSW 13 99,015,220 (GRCm39) missense probably damaging 0.99
R1468:Tnpo1 UTSW 13 98,986,665 (GRCm39) missense probably benign 0.25
R1468:Tnpo1 UTSW 13 98,986,665 (GRCm39) missense probably benign 0.25
R1488:Tnpo1 UTSW 13 98,993,415 (GRCm39) missense probably damaging 0.98
R1961:Tnpo1 UTSW 13 98,989,440 (GRCm39) missense probably damaging 1.00
R3124:Tnpo1 UTSW 13 99,003,637 (GRCm39) frame shift probably null
R4151:Tnpo1 UTSW 13 98,989,407 (GRCm39) missense probably damaging 1.00
R4272:Tnpo1 UTSW 13 99,003,637 (GRCm39) frame shift probably null
R4274:Tnpo1 UTSW 13 99,003,637 (GRCm39) frame shift probably null
R5154:Tnpo1 UTSW 13 99,006,813 (GRCm39) missense possibly damaging 0.84
R5763:Tnpo1 UTSW 13 98,996,445 (GRCm39) missense possibly damaging 0.54
R5765:Tnpo1 UTSW 13 98,996,349 (GRCm39) missense probably benign 0.08
R5827:Tnpo1 UTSW 13 98,993,416 (GRCm39) missense probably damaging 1.00
R6240:Tnpo1 UTSW 13 99,000,337 (GRCm39) missense probably damaging 1.00
R6279:Tnpo1 UTSW 13 99,027,216 (GRCm39) missense possibly damaging 0.90
R6294:Tnpo1 UTSW 13 99,027,282 (GRCm39) missense probably benign 0.03
R7055:Tnpo1 UTSW 13 98,991,987 (GRCm39) missense possibly damaging 0.85
R7509:Tnpo1 UTSW 13 99,006,751 (GRCm39) missense probably benign 0.00
R7707:Tnpo1 UTSW 13 99,027,295 (GRCm39) missense probably benign 0.00
R8314:Tnpo1 UTSW 13 99,021,133 (GRCm39) missense possibly damaging 0.87
R8730:Tnpo1 UTSW 13 98,989,916 (GRCm39) missense probably benign 0.00
R9488:Tnpo1 UTSW 13 98,990,003 (GRCm39) missense probably damaging 1.00
R9511:Tnpo1 UTSW 13 99,003,621 (GRCm39) missense possibly damaging 0.94
Z1088:Tnpo1 UTSW 13 98,997,178 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- TCATGATGAGCAAAACCTAGTCTC -3'
(R):5'- CCCCAGATGTGTATGTGCAC -3'

Sequencing Primer
(F):5'- GTTTAAATAATTCCTCCACCGGGCAG -3'
(R):5'- TGTATGTGCACAAAGGAGTTCC -3'
Posted On 2015-02-05