Incidental Mutation 'R8479:Ipo7'
ID 657429
Institutional Source Beutler Lab
Gene Symbol Ipo7
Ensembl Gene ENSMUSG00000066232
Gene Name importin 7
Synonyms RanBP7, Imp7, A330055O14Rik
MMRRC Submission 067923-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.957) question?
Stock # R8479 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 109617522-109655816 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 109638452 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 240 (V240I)
Ref Sequence ENSEMBL: ENSMUSP00000081782 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084731] [ENSMUST00000208951]
AlphaFold Q9EPL8
Predicted Effect probably benign
Transcript: ENSMUST00000084731
AA Change: V240I

PolyPhen 2 Score 0.233 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000081782
Gene: ENSMUSG00000066232
AA Change: V240I

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 probably benign
Transcript: ENSMUST00000208951
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (52/52)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4galt G A 15: 83,112,061 (GRCm39) H241Y probably benign Het
Afg3l2 C T 18: 67,581,986 (GRCm39) G29D probably benign Het
Ano2 T C 6: 125,689,123 (GRCm39) S52P possibly damaging Het
Atp11a A T 8: 12,892,932 (GRCm39) E641V possibly damaging Het
Atp6v1d T C 12: 78,896,520 (GRCm39) T116A probably benign Het
Cacna2d2 T C 9: 107,403,596 (GRCm39) probably null Het
Cd109 T A 9: 78,574,628 (GRCm39) Y537* probably null Het
Celsr1 G T 15: 85,917,286 (GRCm39) S229* probably null Het
Celsr2 T A 3: 108,306,218 (GRCm39) T2029S probably benign Het
Cntnap2 C T 6: 46,736,707 (GRCm39) A711V probably benign Het
Col18a1 T C 10: 76,916,988 (GRCm39) I114V unknown Het
Crhbp A G 13: 95,578,632 (GRCm39) V163A possibly damaging Het
Crmp1 C A 5: 37,441,502 (GRCm39) P414Q possibly damaging Het
Cse1l G A 2: 166,763,893 (GRCm39) E78K possibly damaging Het
Ctnna2 A G 6: 77,735,573 (GRCm39) V35A probably damaging Het
Ddx1 T A 12: 13,270,749 (GRCm39) N654I probably damaging Het
Dido1 A T 2: 180,315,022 (GRCm39) probably null Het
Dmtf1 C T 5: 9,170,428 (GRCm39) V630I probably damaging Het
Ercc6 T C 14: 32,248,363 (GRCm39) S305P probably benign Het
Ercc6l2 T A 13: 63,972,629 (GRCm39) S37T possibly damaging Het
Ess2 T C 16: 17,728,805 (GRCm39) probably null Het
Fnip2 A G 3: 79,419,862 (GRCm39) M138T probably damaging Het
Galnt9 T C 5: 110,692,617 (GRCm39) V17A probably benign Het
Gm7324 T C 14: 43,952,220 (GRCm39) S288P probably benign Het
Gucy2e G A 11: 69,123,789 (GRCm39) A370V probably benign Het
H2-T13 G A 17: 36,395,111 (GRCm39) A2V probably damaging Het
Ift57 T C 16: 49,522,263 (GRCm39) F2L probably damaging Het
Lrrc4c A G 2: 97,459,977 (GRCm39) Y201C probably damaging Het
Ly6g2 A G 15: 75,089,626 (GRCm39) T45A probably damaging Het
Mapkap1 A T 2: 34,471,302 (GRCm39) S389C probably damaging Het
Met G T 6: 17,491,746 (GRCm39) probably null Het
Misp T C 10: 79,663,750 (GRCm39) F575L possibly damaging Het
Mtmr11 T C 3: 96,071,051 (GRCm39) L136P probably damaging Het
Muc4 C T 16: 32,574,799 (GRCm39) T1128M possibly damaging Het
Nfyc A T 4: 120,626,089 (GRCm39) V70E probably damaging Het
Nphp4 T C 4: 152,608,747 (GRCm39) S452P probably benign Het
Oasl2 T A 5: 115,035,852 (GRCm39) F43I probably damaging Het
Or10ak11 A G 4: 118,687,212 (GRCm39) C141R probably damaging Het
Or5g25 A G 2: 85,478,447 (GRCm39) S73P probably damaging Het
Pros1 G T 16: 62,728,102 (GRCm39) G269W probably damaging Het
Rif1 A C 2: 52,002,563 (GRCm39) S2006R possibly damaging Het
Ror2 G T 13: 53,271,400 (GRCm39) N306K probably damaging Het
Rragd C T 4: 33,018,734 (GRCm39) A379V probably benign Het
Slc10a2 C T 8: 5,148,443 (GRCm39) probably null Het
Susd3 C T 13: 49,390,952 (GRCm39) G113S probably benign Het
Tbc1d19 T A 5: 54,041,031 (GRCm39) M371K possibly damaging Het
Tnn C A 1: 159,950,397 (GRCm39) R736S probably benign Het
Trio T C 15: 27,901,286 (GRCm39) T323A probably benign Het
Ubqln1 G A 13: 58,339,653 (GRCm39) P324S probably benign Het
Uspl1 T C 5: 149,152,004 (GRCm39) L1068P probably damaging Het
Vmn2r86 A T 10: 130,282,735 (GRCm39) I627N probably damaging Het
Wdr35 C A 12: 9,035,985 (GRCm39) T252K probably benign Het
Zfp62 T C 11: 49,107,319 (GRCm39) I470T probably damaging Het
Other mutations in Ipo7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01796:Ipo7 APN 7 109,629,055 (GRCm39) intron probably benign
IGL02472:Ipo7 APN 7 109,640,060 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- GGTAATTGCCCTTGTTCACTAAGG -3'
(R):5'- TGTTCATGGCCATCTGACAG -3'

Sequencing Primer
(F):5'- GCCCTTGTTCACTAAGGAAATTAG -3'
(R):5'- CATGGCCATCTGACAGATTATTAAG -3'
Posted On 2021-01-18