Incidental Mutation 'IGL02472:Ipo7'
ID 294767
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ipo7
Ensembl Gene ENSMUSG00000066232
Gene Name importin 7
Synonyms RanBP7, Imp7, A330055O14Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.957) question?
Stock # IGL02472
Quality Score
Status
Chromosome 7
Chromosomal Location 109617522-109655816 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 109640060 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 288 (F288I)
Ref Sequence ENSEMBL: ENSMUSP00000081782 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084731] [ENSMUST00000208951]
AlphaFold Q9EPL8
Predicted Effect probably damaging
Transcript: ENSMUST00000084731
AA Change: F288I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000081782
Gene: ENSMUSG00000066232
AA Change: F288I

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: 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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik A G 15: 76,834,578 (GRCm39) N158S probably damaging Het
Ankrd17 A C 5: 90,412,010 (GRCm39) L1285V probably damaging Het
Atp8b2 G A 3: 89,861,546 (GRCm39) T267I probably damaging Het
Becn1 C T 11: 101,182,224 (GRCm39) G115D probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Chd6 A C 2: 160,826,372 (GRCm39) probably benign Het
Col22a1 A G 15: 71,699,602 (GRCm39) probably benign Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dnm2 A G 9: 21,397,004 (GRCm39) I494V possibly damaging Het
Dock2 T A 11: 34,199,801 (GRCm39) E1416D probably benign Het
Eif2ak1 A G 5: 143,821,701 (GRCm39) H339R probably benign Het
Espnl C T 1: 91,268,256 (GRCm39) P294L probably benign Het
Ftmt T A 18: 52,464,912 (GRCm39) I76N possibly damaging Het
Gorasp2 T G 2: 70,506,803 (GRCm39) probably benign Het
Hadhb T A 5: 30,389,061 (GRCm39) M468K possibly damaging Het
Hfm1 A G 5: 107,021,794 (GRCm39) probably benign Het
Inpp5j T C 11: 3,445,338 (GRCm39) probably benign Het
Kcnv1 T A 15: 44,972,519 (GRCm39) K455* probably null Het
Kdm5a A G 6: 120,383,691 (GRCm39) probably benign Het
Kmt2d G A 15: 98,747,958 (GRCm39) S3122F probably benign Het
Kndc1 A G 7: 139,490,817 (GRCm39) I440V probably benign Het
Mib2 T A 4: 155,741,203 (GRCm39) I545F probably damaging Het
Nav2 C T 7: 49,195,789 (GRCm39) P1055L probably damaging Het
Or4c10b T A 2: 89,711,755 (GRCm39) I195N probably benign Het
Or5v1b C A 17: 37,841,640 (GRCm39) F257L probably damaging Het
Plch1 A T 3: 63,609,270 (GRCm39) L65Q probably damaging Het
Polr1g T C 7: 19,093,030 (GRCm39) D50G probably damaging Het
Ppp3ca A G 3: 136,627,623 (GRCm39) I396V possibly damaging Het
Ryr1 A T 7: 28,740,269 (GRCm39) N3917K probably damaging Het
Scn7a T C 2: 66,582,658 (GRCm39) T80A probably damaging Het
Sema3f C T 9: 107,564,935 (GRCm39) E307K probably damaging Het
Serpinb9b A T 13: 33,223,953 (GRCm39) probably benign Het
Siglec15 T A 18: 78,086,832 (GRCm39) K342N possibly damaging Het
Slc2a12 T C 10: 22,541,054 (GRCm39) F303S probably damaging Het
Slc9c1 T C 16: 45,400,505 (GRCm39) V705A probably benign Het
Tenm4 T C 7: 96,423,383 (GRCm39) probably benign Het
Tm6sf1 A T 7: 81,525,572 (GRCm39) probably benign Het
Tmem245 T C 4: 56,899,119 (GRCm39) Y269C probably damaging Het
Txndc2 A G 17: 65,944,971 (GRCm39) I402T possibly damaging Het
Ube4b A G 4: 149,471,536 (GRCm39) probably null Het
Usp28 T A 9: 48,949,069 (GRCm39) Y863N possibly damaging Het
Vmn2r69 T C 7: 85,058,960 (GRCm39) I534V probably benign Het
Wdr89 A T 12: 75,679,743 (GRCm39) D170E probably damaging Het
Zfp280d C A 9: 72,208,993 (GRCm39) N74K probably damaging Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Other mutations in Ipo7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01796:Ipo7 APN 7 109,629,055 (GRCm39) intron probably benign
IGL02502:Ipo7 APN 7 109,650,257 (GRCm39) missense probably damaging 1.00
IGL02514:Ipo7 APN 7 109,648,035 (GRCm39) missense possibly damaging 0.78
IGL02535:Ipo7 APN 7 109,653,233 (GRCm39) missense probably damaging 0.98
IGL02961:Ipo7 APN 7 109,646,223 (GRCm39) missense probably benign 0.02
R0089:Ipo7 UTSW 7 109,649,972 (GRCm39) intron probably benign
R0355:Ipo7 UTSW 7 109,648,868 (GRCm39) missense probably benign 0.00
R0565:Ipo7 UTSW 7 109,648,800 (GRCm39) intron probably benign
R1342:Ipo7 UTSW 7 109,629,011 (GRCm39) missense possibly damaging 0.82
R1405:Ipo7 UTSW 7 109,638,456 (GRCm39) missense probably damaging 0.97
R1405:Ipo7 UTSW 7 109,638,456 (GRCm39) missense probably damaging 0.97
R1405:Ipo7 UTSW 7 109,629,048 (GRCm39) missense probably benign 0.03
R1405:Ipo7 UTSW 7 109,629,048 (GRCm39) missense probably benign 0.03
R1791:Ipo7 UTSW 7 109,626,339 (GRCm39) missense probably damaging 0.98
R1838:Ipo7 UTSW 7 109,641,316 (GRCm39) missense probably damaging 1.00
R2116:Ipo7 UTSW 7 109,650,325 (GRCm39) missense probably damaging 0.99
R2120:Ipo7 UTSW 7 109,648,838 (GRCm39) missense probably damaging 1.00
R4366:Ipo7 UTSW 7 109,647,423 (GRCm39) missense possibly damaging 0.88
R4366:Ipo7 UTSW 7 109,628,919 (GRCm39) missense possibly damaging 0.58
R4805:Ipo7 UTSW 7 109,650,691 (GRCm39) missense probably benign 0.16
R5228:Ipo7 UTSW 7 109,645,969 (GRCm39) missense probably benign 0.00
R5903:Ipo7 UTSW 7 109,650,020 (GRCm39) missense probably damaging 1.00
R5976:Ipo7 UTSW 7 109,648,014 (GRCm39) missense probably damaging 1.00
R6254:Ipo7 UTSW 7 109,648,267 (GRCm39) missense probably benign 0.00
R6335:Ipo7 UTSW 7 109,617,675 (GRCm39) missense possibly damaging 0.92
R6360:Ipo7 UTSW 7 109,626,336 (GRCm39) missense probably damaging 1.00
R6776:Ipo7 UTSW 7 109,646,272 (GRCm39) missense probably damaging 0.98
R7132:Ipo7 UTSW 7 109,653,254 (GRCm39) missense probably benign 0.17
R7329:Ipo7 UTSW 7 109,648,224 (GRCm39) missense possibly damaging 0.94
R7491:Ipo7 UTSW 7 109,638,401 (GRCm39) missense possibly damaging 0.91
R7763:Ipo7 UTSW 7 109,652,006 (GRCm39) missense possibly damaging 0.62
R8070:Ipo7 UTSW 7 109,652,014 (GRCm39) missense probably benign 0.01
R8479:Ipo7 UTSW 7 109,638,452 (GRCm39) missense probably benign 0.23
R8547:Ipo7 UTSW 7 109,652,000 (GRCm39) missense probably benign 0.01
R8839:Ipo7 UTSW 7 109,641,223 (GRCm39) missense probably damaging 1.00
R8897:Ipo7 UTSW 7 109,643,943 (GRCm39) critical splice donor site probably null
R9024:Ipo7 UTSW 7 109,643,943 (GRCm39) critical splice donor site probably null
R9089:Ipo7 UTSW 7 109,643,666 (GRCm39) missense possibly damaging 0.79
R9245:Ipo7 UTSW 7 109,643,826 (GRCm39) missense probably damaging 1.00
RF017:Ipo7 UTSW 7 109,648,001 (GRCm39) missense probably benign 0.00
X0062:Ipo7 UTSW 7 109,652,093 (GRCm39) missense probably damaging 1.00
X0066:Ipo7 UTSW 7 109,651,941 (GRCm39) missense probably damaging 0.97
Posted On 2015-04-16