Incidental Mutation 'IGL02572:Tnpo1'
ID299028
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tnpo1
Ensembl Gene ENSMUSG00000009470
Gene Nametransportin 1
SynonymsKpnb2, D13Ertd688e
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.970) question?
Stock #IGL02572
Quality Score
Status
Chromosome13
Chromosomal Location98839019-98926384 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 98849159 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 829 (I829N)
Ref Sequence ENSEMBL: ENSMUSP00000105026 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109399] [ENSMUST00000109401] [ENSMUST00000179301]
Predicted Effect probably damaging
Transcript: ENSMUST00000109399
AA Change: I829N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105026
Gene: ENSMUSG00000009470
AA Change: I829N

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 possibly damaging
Transcript: ENSMUST00000109401
AA Change: I837N

PolyPhen 2 Score 0.748 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000105028
Gene: ENSMUSG00000009470
AA Change: I837N

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 benign
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: 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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630001G21Rik T C 1: 85,725,171 N92S probably damaging Het
Abca2 T C 2: 25,433,317 L99P possibly damaging Het
Adam19 T A 11: 46,131,721 Y500* probably null Het
Amy1 A T 3: 113,565,073 probably benign Het
Aox3 T C 1: 58,158,367 I624T probably damaging Het
Atad3a C T 4: 155,753,584 D244N possibly damaging Het
Atp5j2 C A 5: 145,187,237 Het
Bbof1 G A 12: 84,428,365 D443N probably damaging Het
BC017158 A T 7: 128,290,580 probably benign Het
Bod1l G A 5: 41,821,230 Q914* probably null Het
C330011M18Rik A G 8: 84,066,579 probably benign Het
Cgref1 A G 5: 30,933,567 V301A probably benign Het
Coa6 T C 8: 126,422,741 Y19H probably damaging Het
Cop1 T A 1: 159,308,878 Het
Dmrta1 T C 4: 89,691,558 S252P probably benign Het
Dnaaf5 T G 5: 139,184,629 S484A probably benign Het
Dspp A T 5: 104,177,069 S433C probably damaging Het
Efcab5 G A 11: 77,137,888 R206* probably null Het
Epop A T 11: 97,628,201 S361T probably benign Het
Fat3 T A 9: 15,960,506 T3530S probably benign Het
Flvcr1 A G 1: 191,025,646 Y108H probably damaging Het
Fsip2 T G 2: 82,992,003 S6027A probably benign Het
Galnt14 A G 17: 73,535,267 L209P probably damaging Het
Hif3a C A 7: 17,050,588 R25L probably null Het
Hsf5 A G 11: 87,631,695 probably benign Het
Il22ra2 A T 10: 19,626,744 T104S probably benign Het
Klrk1 A G 6: 129,615,353 S138P probably damaging Het
Lrp5 G T 19: 3,614,283 Q815K probably benign Het
Morn4 A G 19: 42,076,447 probably benign Het
Nlrp14 T A 7: 107,182,722 Y375* probably null Het
Nsd1 T A 13: 55,296,130 M1714K probably damaging Het
Olfr171 T A 16: 19,625,098 M1L probably benign Het
Olfr259 G A 2: 87,108,366 T7I possibly damaging Het
Olfr806 T A 10: 129,738,866 D17V possibly damaging Het
Pappa2 C T 1: 158,851,216 A877T probably benign Het
Pcsk2 G A 2: 143,690,342 A137T probably damaging Het
Piezo1 A G 8: 122,485,305 V2054A probably benign Het
Rad52 A G 6: 119,915,227 Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Sbno1 A G 5: 124,381,677 Het
Scrn1 C T 6: 54,512,201 D312N probably benign Het
Sin3b A G 8: 72,744,481 Q352R probably benign Het
Slc25a28 A G 19: 43,664,446 Y259H probably damaging Het
Sppl2a T C 2: 126,926,296 M151V probably benign Het
Srrm1 G A 4: 135,325,104 Het
Stra8 G A 6: 34,939,159 D280N probably damaging Het
Thbs2 A T 17: 14,677,013 D744E possibly damaging Het
Tiparp A G 3: 65,531,889 T27A probably benign Het
Tmem38a T C 8: 72,579,974 F99S probably damaging Het
Tmod3 T C 9: 75,509,385 T222A probably benign Het
Tnn A G 1: 160,086,107 I1272T probably damaging Het
Trpm5 A T 7: 143,087,876 probably benign Het
Ttn A G 2: 76,767,871 V19566A probably damaging Het
V1ra8 A G 6: 90,203,058 D81G probably damaging Het
Zdhhc20 A G 14: 57,890,107 V25A probably benign Het
Other mutations in Tnpo1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00765:Tnpo1 APN 13 98850104 splice site probably benign
IGL03040:Tnpo1 APN 13 98859955 missense probably damaging 0.99
IGL03237:Tnpo1 APN 13 98863840 missense probably damaging 0.98
IGL03379:Tnpo1 APN 13 98863840 missense probably damaging 0.98
IGL03393:Tnpo1 APN 13 98888473 missense probably damaging 0.99
IGL03405:Tnpo1 APN 13 98863840 missense probably damaging 0.98
IGL03407:Tnpo1 APN 13 98863840 missense probably damaging 0.98
R0308:Tnpo1 UTSW 13 98846503 missense probably damaging 0.97
R0465:Tnpo1 UTSW 13 98884634 missense probably damaging 0.97
R0492:Tnpo1 UTSW 13 98855446 missense probably damaging 1.00
R0707:Tnpo1 UTSW 13 98855446 missense probably damaging 1.00
R0732:Tnpo1 UTSW 13 98863812 missense probably damaging 0.99
R1314:Tnpo1 UTSW 13 98860722 missense probably damaging 0.99
R1449:Tnpo1 UTSW 13 98878712 missense probably damaging 0.99
R1468:Tnpo1 UTSW 13 98850157 missense probably benign 0.25
R1468:Tnpo1 UTSW 13 98850157 missense probably benign 0.25
R1488:Tnpo1 UTSW 13 98856907 missense probably damaging 0.98
R1961:Tnpo1 UTSW 13 98852932 missense probably damaging 1.00
R3123:Tnpo1 UTSW 13 98867129 frame shift probably null
R3124:Tnpo1 UTSW 13 98867129 frame shift probably null
R4151:Tnpo1 UTSW 13 98852899 missense probably damaging 1.00
R4272:Tnpo1 UTSW 13 98867129 frame shift probably null
R4274:Tnpo1 UTSW 13 98867129 frame shift probably null
R5154:Tnpo1 UTSW 13 98870305 missense possibly damaging 0.84
R5763:Tnpo1 UTSW 13 98859937 missense possibly damaging 0.54
R5765:Tnpo1 UTSW 13 98859841 missense probably benign 0.08
R5827:Tnpo1 UTSW 13 98856908 missense probably damaging 1.00
R6240:Tnpo1 UTSW 13 98863829 missense probably damaging 1.00
R6279:Tnpo1 UTSW 13 98890708 missense possibly damaging 0.90
R6294:Tnpo1 UTSW 13 98890774 missense probably benign 0.03
Z1088:Tnpo1 UTSW 13 98860670 missense probably benign 0.02
Posted On2015-04-16