Incidental Mutation 'IGL01796:Ipo7'
ID155380
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 #IGL01796
Quality Score
Status
Chromosome7
Chromosomal Location110018274-110056609 bp(+) (GRCm38)
Type of Mutationintron
DNA Base Change (assembly) T to C at 110029848 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000146367 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084731] [ENSMUST00000208951]
Predicted Effect probably benign
Transcript: ENSMUST00000084731
SMART Domains Protein: ENSMUSP00000081782
Gene: ENSMUSG00000066232

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: ENSMUST00000185931
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207277
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208408
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs T C 5: 125,513,209 Y511H probably damaging Het
Abca7 T G 10: 80,013,909 Y1948D probably damaging Het
Adgrl2 C A 3: 148,858,975 G319V probably damaging Het
Adgrv1 T A 13: 81,567,342 D909V probably benign Het
Anapc16 T C 10: 59,988,757 E119G possibly damaging Het
C1qtnf12 T C 4: 155,966,429 V285A possibly damaging Het
Cbr1 A C 16: 93,608,231 N89T probably damaging Het
Cdh23 T A 10: 60,311,137 Q2778L probably benign Het
Clca4c-ps A G 3: 144,889,579 noncoding transcript Het
Cst9 T C 2: 148,835,349 F47L probably damaging Het
Dqx1 T C 6: 83,066,427 probably benign Het
Dus4l T C 12: 31,642,795 S150G probably benign Het
E2f2 A T 4: 136,180,417 K142* probably null Het
Eif2ak4 T A 2: 118,446,304 H169Q probably benign Het
Fmo9 C T 1: 166,663,335 A525T probably benign Het
Gm42878 T C 5: 121,545,184 D6G probably benign Het
Igfals A G 17: 24,880,082 Y49C probably damaging Het
Iltifb T C 10: 118,290,164 N176S possibly damaging Het
Itga1 T C 13: 114,985,121 E784G probably damaging Het
Jcad G T 18: 4,672,855 E206* probably null Het
Kif24 A T 4: 41,392,978 probably benign Het
Lrrc2 T A 9: 110,980,818 probably null Het
Ltbp1 A G 17: 75,227,245 probably benign Het
Man2c1 C T 9: 57,137,960 T451I possibly damaging Het
Manba T A 3: 135,542,389 N346K probably damaging Het
Nell1 T C 7: 50,176,216 probably benign Het
Nfat5 T C 8: 107,367,641 V744A probably damaging Het
Nms T C 1: 38,946,111 M98T possibly damaging Het
Nos1 A T 5: 117,938,274 K1120* probably null Het
Olfr741 C A 14: 50,485,541 Q28K probably benign Het
Plekho1 C T 3: 95,990,835 R172H probably damaging Het
Pot1b A T 17: 55,669,750 C391S possibly damaging Het
Scn1a G A 2: 66,332,301 probably benign Het
Sgce T G 6: 4,711,326 N149H probably damaging Het
Slc45a1 A G 4: 150,643,969 W126R probably damaging Het
Slc9a1 G A 4: 133,420,093 probably benign Het
Tmem131l T A 3: 83,938,055 K423* probably null Het
Tnrc18 C T 5: 142,764,887 E1444K possibly damaging Het
Tpp1 T C 7: 105,747,650 probably benign Het
Trip12 A C 1: 84,728,278 S610R probably benign Het
Ushbp1 G T 8: 71,387,432 A525E probably benign Het
Vmn2r106 A T 17: 20,268,052 M695K possibly damaging Het
Vmn2r118 A G 17: 55,608,585 I455T probably benign Het
Zbtb41 T C 1: 139,442,883 F686S probably damaging Het
Other mutations in Ipo7
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02535:Ipo7 APN 7 110054026 missense probably damaging 0.98
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 On2014-02-04