Incidental Mutation 'IGL02535:Ipo7'
ID297460
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ipo7
Ensembl Gene ENSMUSG00000066232
Gene Nameimportin 7
SynonymsA330055O14Rik, Imp7, RanBP7
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.965) question?
Stock #IGL02535
Quality Score
Status
Chromosome7
Chromosomal Location110018274-110056609 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 110054026 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 977 (Y977H)
Ref Sequence ENSEMBL: ENSMUSP00000081782 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084731] [ENSMUST00000208951]
Predicted Effect probably damaging
Transcript: ENSMUST00000084731
AA Change: Y977H

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000081782
Gene: ENSMUSG00000066232
AA Change: Y977H

DomainStartEndE-ValueType
IBN_N 22 101 3.06e-15 SMART
Pfam:Cse1 168 452 2.8e-12 PFAM
low complexity region 701 712 N/A INTRINSIC
low complexity region 881 900 N/A INTRINSIC
low complexity region 923 939 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000098110
SMART Domains Protein: ENSMUSP00000095714
Gene: ENSMUSG00000073867

DomainStartEndE-ValueType
SCOP:d1gosa1 29 85 4e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185931
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207277
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208821
Predicted Effect probably benign
Transcript: ENSMUST00000208951
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The importin-alpha/beta complex and the GTPase Ran mediate nuclear import of proteins with a classical nuclear localization signal. The protein encoded by this gene is a member of a class of approximately 20 potential Ran targets that share a sequence motif related to the Ran-binding site of importin-beta. Similar to importin-beta, this protein prevents the activation of Ran's GTPase by RanGAP1 and inhibits nucleotide exchange on RanGTP, and also binds directly to nuclear pore complexes where it competes for binding sites with importin-beta and transportin. This protein has a Ran-dependent transport cycle and it can cross the nuclear envelope rapidly and in both directions. At least four importin beta-like transport receptors, namely importin beta itself, transportin, RanBP5 and RanBP7, directly bind and import ribosomal proteins. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik T G 15: 8,174,838 V65G probably damaging Het
Abcc9 G T 6: 142,628,426 D993E probably benign Het
Acap1 T C 11: 69,882,694 N430D probably benign Het
Actl11 T A 9: 107,929,937 D486E possibly damaging Het
Adh6a A G 3: 138,327,390 N281D probably benign Het
Apon A T 10: 128,254,954 E167V probably damaging Het
Bahcc1 T A 11: 120,287,536 M2307K possibly damaging Het
Cdca3 A G 6: 124,830,558 T10A probably damaging Het
D330045A20Rik A T X: 139,492,647 K217I probably damaging Het
Dusp16 T C 6: 134,718,827 E347G probably benign Het
Dysf A T 6: 84,149,697 Y1298F possibly damaging Het
F12 T C 13: 55,426,344 D25G possibly damaging Het
F5 T A 1: 164,198,733 S1625T probably damaging Het
Fbxl2 T C 9: 113,979,507 E372G probably benign Het
Flrt1 T C 19: 7,096,733 I150V probably benign Het
Grin2b T A 6: 135,779,369 I453F possibly damaging Het
Hivep2 C T 10: 14,139,497 R1803C probably damaging Het
Il33 A G 19: 29,952,747 N81D probably benign Het
Lyst T C 13: 13,650,342 V1514A probably benign Het
Map1a C A 2: 121,302,177 S920* probably null Het
Nlrp9c T C 7: 26,372,097 N862S probably damaging Het
Olfr1054 A G 2: 86,332,675 M227T probably damaging Het
Olfr1413 C A 1: 92,573,221 Q17K probably benign Het
Olfr389 A G 11: 73,776,616 V237A probably benign Het
P2rx2 T A 5: 110,342,353 T134S probably benign Het
Papolg T C 11: 23,890,245 D77G probably benign Het
Pkd1l3 A T 8: 109,640,890 R1240* probably null Het
Slc22a8 A T 19: 8,610,203 T514S probably benign Het
Slc39a5 T C 10: 128,399,330 D136G probably benign Het
Tnn T C 1: 160,122,652 probably null Het
Trav8d-2 A T 14: 53,042,684 S44C probably damaging Het
Tubb1 A G 2: 174,457,566 N347S probably benign Het
Ubap1 C T 4: 41,379,667 R294* probably null Het
Ube2o C T 11: 116,541,765 V792M probably benign Het
Usp13 A G 3: 32,837,926 S85G probably benign Het
Vmac C T 17: 56,715,550 M61I probably benign Het
Vmn1r54 T A 6: 90,269,278 I58N possibly damaging Het
Zmym5 A G 14: 56,797,666 probably null Het
Other mutations in Ipo7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01796:Ipo7 APN 7 110029848 intron probably benign
IGL02472:Ipo7 APN 7 110040853 missense probably damaging 1.00
IGL02502:Ipo7 APN 7 110051050 missense probably damaging 1.00
IGL02514:Ipo7 APN 7 110048828 missense possibly damaging 0.78
IGL02961:Ipo7 APN 7 110047016 missense probably benign 0.02
R0089:Ipo7 UTSW 7 110050765 intron probably benign
R0355:Ipo7 UTSW 7 110049661 missense probably benign 0.00
R0565:Ipo7 UTSW 7 110049593 intron probably benign
R1342:Ipo7 UTSW 7 110029804 missense possibly damaging 0.82
R1405:Ipo7 UTSW 7 110029841 missense probably benign 0.03
R1405:Ipo7 UTSW 7 110039249 missense probably damaging 0.97
R1405:Ipo7 UTSW 7 110029841 missense probably benign 0.03
R1405:Ipo7 UTSW 7 110039249 missense probably damaging 0.97
R1791:Ipo7 UTSW 7 110027132 missense probably damaging 0.98
R1838:Ipo7 UTSW 7 110042109 missense probably damaging 1.00
R2116:Ipo7 UTSW 7 110051118 missense probably damaging 0.99
R2120:Ipo7 UTSW 7 110049631 missense probably damaging 1.00
R4366:Ipo7 UTSW 7 110029712 missense possibly damaging 0.58
R4366:Ipo7 UTSW 7 110048216 missense possibly damaging 0.88
R4805:Ipo7 UTSW 7 110051484 missense probably benign 0.16
R5228:Ipo7 UTSW 7 110046762 missense probably benign 0.00
R5903:Ipo7 UTSW 7 110050813 missense probably damaging 1.00
R5976:Ipo7 UTSW 7 110048807 missense probably damaging 1.00
R6254:Ipo7 UTSW 7 110049060 missense probably benign 0.00
R6335:Ipo7 UTSW 7 110018468 missense possibly damaging 0.92
R6360:Ipo7 UTSW 7 110027129 missense probably damaging 1.00
R6776:Ipo7 UTSW 7 110047065 missense probably damaging 0.98
R7132:Ipo7 UTSW 7 110054047 missense probably benign 0.17
R7329:Ipo7 UTSW 7 110049017 missense possibly damaging 0.94
R7491:Ipo7 UTSW 7 110039194 missense possibly damaging 0.91
R7763:Ipo7 UTSW 7 110052799 missense possibly damaging 0.62
R8070:Ipo7 UTSW 7 110052807 missense probably benign 0.01
RF017:Ipo7 UTSW 7 110048794 missense probably benign 0.00
X0062:Ipo7 UTSW 7 110052886 missense probably damaging 1.00
X0066:Ipo7 UTSW 7 110052734 missense probably damaging 0.97
Posted On2015-04-16