Incidental Mutation 'R4274:Tnpo1'
ID 324728
Institutional Source Beutler Lab
Gene Symbol Tnpo1
Ensembl Gene ENSMUSG00000009470
Gene Name transportin 1
Synonyms D13Ertd688e, Kpnb2
MMRRC Submission 041077-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.969) question?
Stock # R4274 (G1)
Quality Score 217
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: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency 98% (55/56)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a T C 11: 109,980,930 (GRCm39) Y36C probably damaging Het
Abcc4 T C 14: 118,867,034 (GRCm39) R228G probably damaging Het
Acap2 A T 16: 30,926,932 (GRCm39) S528T probably benign Het
Adamts6 T A 13: 104,450,787 (GRCm39) D323E possibly damaging Het
Ano8 G T 8: 71,931,385 (GRCm39) probably benign Het
Ano9 T G 7: 140,690,608 (GRCm39) Q48P probably benign Het
Atp13a1 T G 8: 70,257,942 (GRCm39) L899R probably benign Het
Card10 G A 15: 78,664,714 (GRCm39) R747W probably damaging Het
Csn1s1 T C 5: 87,828,820 (GRCm39) *295R probably null Het
Dhx9 A G 1: 153,344,672 (GRCm39) I505T probably damaging Het
Dnajc17 A T 2: 119,016,866 (GRCm39) S37T probably benign Het
Dot1l T A 10: 80,619,822 (GRCm39) probably null Het
Dph7 A G 2: 24,853,512 (GRCm39) N109S possibly damaging Het
Ednra C T 8: 78,446,931 (GRCm39) G49D probably benign Het
Fam83g T C 11: 61,592,554 (GRCm39) M259T probably damaging Het
Fer1l4 A T 2: 155,862,464 (GRCm39) D1736E probably damaging Het
Fetub T C 16: 22,754,429 (GRCm39) I212T probably damaging Het
Foxc2 C A 8: 121,844,439 (GRCm39) S362R probably benign Het
Gm8444 A G 15: 81,727,734 (GRCm39) probably benign Het
Gpank1 G A 17: 35,343,245 (GRCm39) E242K probably benign Het
Hps4 G A 5: 112,522,896 (GRCm39) probably benign Het
Hspg2 C T 4: 137,246,251 (GRCm39) R1010C probably damaging Het
Ighv1-20 A T 12: 114,687,819 (GRCm39) W3R probably damaging Het
Kcnq1 T C 7: 142,738,179 (GRCm39) I209T probably damaging Het
Me3 A T 7: 89,455,934 (GRCm39) E262V probably damaging Het
Mei1 G A 15: 82,009,064 (GRCm39) R1233Q possibly damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Mrgprx3-ps T C 7: 46,959,574 (GRCm39) noncoding transcript Het
Or4k37 A T 2: 111,159,160 (GRCm39) Y132F probably damaging Het
Or5p6 C A 7: 107,630,751 (GRCm39) K266N probably benign Het
Or8a1b A T 9: 37,623,364 (GRCm39) D70E probably damaging Het
Ostm1 T C 10: 42,574,230 (GRCm39) F153L probably damaging Het
Pkd1l3 C T 8: 110,350,751 (GRCm39) T532I possibly damaging Het
Prpf40a G A 2: 53,036,184 (GRCm39) H624Y probably damaging Het
Rtn2 T C 7: 19,021,249 (GRCm39) S210P probably benign Het
Siglec1 T C 2: 130,927,734 (GRCm39) Q24R probably benign Het
Smurf1 T C 5: 144,833,585 (GRCm39) probably benign Het
Ssr1 G A 13: 38,169,266 (GRCm39) L225F possibly damaging Het
Tlr6 A G 5: 65,110,981 (GRCm39) I642T probably benign Het
Tnrc18 T C 5: 142,729,405 (GRCm39) K1674R unknown Het
Tns1 T A 1: 73,967,257 (GRCm39) Y1115F probably damaging Het
Trim56 T A 5: 137,142,541 (GRCm39) E325V probably damaging Het
Ttn T C 2: 76,606,318 (GRCm39) T18164A possibly damaging Het
Ugt2a3 A T 5: 87,475,548 (GRCm39) D361E probably damaging Het
Vmn2r125 T C 4: 156,702,382 (GRCm39) I56T probably benign Het
Xkr5 T A 8: 18,984,183 (GRCm39) H453L probably benign Het
Zcchc7 C T 4: 44,931,335 (GRCm39) H496Y possibly damaging Het
Zfp82 C T 7: 29,755,792 (GRCm39) R430H probably damaging Het
Zscan22 T C 7: 12,640,251 (GRCm39) V6A 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
R3123:Tnpo1 UTSW 13 99,003,637 (GRCm39) frame shift probably null
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
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 2015-06-24