Incidental Mutation 'IGL03237:Tnpo1'
ID 414082
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tnpo1
Ensembl Gene ENSMUSG00000009470
Gene Name transportin 1
Synonyms D13Ertd688e, Kpnb2
Accession Numbers
Essential gene? Probably essential (E-score: 0.969) question?
Stock # IGL03237
Quality Score
Status
Chromosome 13
Chromosomal Location 98975527-99062892 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 99000348 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 340 (E340K)
Ref Sequence ENSEMBL: ENSMUSP00000105028 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109399] [ENSMUST00000109401] [ENSMUST00000179301]
AlphaFold Q8BFY9
Predicted Effect possibly damaging
Transcript: ENSMUST00000109399
AA Change: E332K

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000105026
Gene: ENSMUSG00000009470
AA Change: E332K

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 damaging
Transcript: ENSMUST00000109401
AA Change: E340K

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000105028
Gene: ENSMUSG00000009470
AA Change: E340K

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 possibly damaging
Transcript: ENSMUST00000179301
AA Change: E332K

PolyPhen 2 Score 0.453 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000136917
Gene: ENSMUSG00000009470
AA Change: E332K

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
Coding Region Coverage
Validation Efficiency
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot12 A G 13: 91,929,388 (GRCm39) Y405C probably benign Het
Adam19 A G 11: 46,028,383 (GRCm39) K672R probably benign Het
Adamts7 C A 9: 90,070,717 (GRCm39) P613T probably damaging Het
Adgrl1 G T 8: 84,656,312 (GRCm39) probably null Het
Adrb1 A T 19: 56,711,800 (GRCm39) N333Y probably damaging Het
Aqp7 C T 4: 41,034,884 (GRCm39) V190M possibly damaging Het
Atg101 T C 15: 101,185,054 (GRCm39) F59L probably damaging Het
Capn12 T C 7: 28,590,366 (GRCm39) S638P probably damaging Het
Ccm2l T C 2: 152,907,922 (GRCm39) probably benign Het
Cdc14a A T 3: 116,198,275 (GRCm39) probably benign Het
Cdh20 A T 1: 110,066,037 (GRCm39) K770N possibly damaging Het
Clxn A G 16: 14,738,652 (GRCm39) D161G probably damaging Het
Col23a1 A C 11: 51,458,746 (GRCm39) E294D possibly damaging Het
Cped1 A T 6: 22,233,595 (GRCm39) Y679F probably damaging Het
Ctu2 A G 8: 123,205,792 (GRCm39) E180G probably benign Het
Cyp11b2 C T 15: 74,722,914 (GRCm39) V495I probably benign Het
Ecpas A T 4: 58,810,668 (GRCm39) M1563K probably benign Het
Gabrg3 A T 7: 56,632,460 (GRCm39) probably null Het
Hsd17b11 A G 5: 104,151,036 (GRCm39) *233Q probably null Het
Klhl41 T C 2: 69,500,902 (GRCm39) V121A possibly damaging Het
Kptn A T 7: 15,854,050 (GRCm39) D56V probably damaging Het
L3mbtl4 T A 17: 69,084,856 (GRCm39) I589N probably damaging Het
Lpl A T 8: 69,347,378 (GRCm39) N177Y possibly damaging Het
Manba G A 3: 135,250,512 (GRCm39) V380M probably damaging Het
Mecom A T 3: 30,010,648 (GRCm39) probably benign Het
Mertk A G 2: 128,632,192 (GRCm39) E707G probably damaging Het
Myo5a A T 9: 75,037,276 (GRCm39) I160F probably damaging Het
Myo7a A T 7: 97,751,800 (GRCm39) I81N probably damaging Het
Nelfcd G A 2: 174,268,625 (GRCm39) A559T possibly damaging Het
Nipal1 C T 5: 72,824,150 (GRCm39) R76C probably damaging Het
Noc3l C T 19: 38,803,125 (GRCm39) probably null Het
Nt5e A G 9: 88,237,787 (GRCm39) D239G probably damaging Het
Olr1 A C 6: 129,479,117 (GRCm39) W34G probably damaging Het
Plekhf1 A T 7: 37,920,799 (GRCm39) N256K probably benign Het
Psen2 T C 1: 180,068,414 (GRCm39) T80A possibly damaging Het
Psg27 A G 7: 18,294,417 (GRCm39) I330T probably benign Het
Ranbp2 T C 10: 58,328,783 (GRCm39) V2894A probably damaging Het
Sgcz A T 8: 38,030,332 (GRCm39) D170E probably benign Het
Snrnp200 C T 2: 127,075,233 (GRCm39) A1573V probably damaging Het
Steap3 C T 1: 120,171,520 (GRCm39) G195D probably damaging Het
Tmem165 T A 5: 76,347,356 (GRCm39) Y5* probably null Het
Vmn2r67 A T 7: 84,799,118 (GRCm39) C530S probably damaging Het
Wdfy3 T A 5: 101,992,465 (GRCm39) D3389V probably damaging Het
Zfp128 A C 7: 12,624,953 (GRCm39) E440D 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
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
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
Posted On 2016-08-02