Incidental Mutation 'R4805:Ipo7'
ID 370623
Institutional Source Beutler Lab
Gene Symbol Ipo7
Ensembl Gene ENSMUSG00000066232
Gene Name importin 7
Synonyms RanBP7, Imp7, A330055O14Rik
MMRRC Submission 041999-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.957) question?
Stock # R4805 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 109617522-109655816 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 109650691 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 884 (N884K)
Ref Sequence ENSEMBL: ENSMUSP00000081782 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084731] [ENSMUST00000208951]
AlphaFold Q9EPL8
Predicted Effect noncoding transcript
Transcript: ENSMUST00000082517
Predicted Effect probably benign
Transcript: ENSMUST00000084731
AA Change: N884K

PolyPhen 2 Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000081782
Gene: ENSMUSG00000066232
AA Change: N884K

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
Meta Mutation Damage Score 0.0616 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 92.7%
Validation Efficiency 99% (69/70)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik T A 15: 81,950,628 (GRCm39) Y1508* probably null Het
4931414P19Rik T C 14: 54,832,911 (GRCm39) E88G probably benign Het
Acaa1b A G 9: 118,986,014 (GRCm39) S17P probably benign Het
Arhgef7 G A 8: 11,881,552 (GRCm39) E565K probably damaging Het
Arl6ip1 AAAATAAATAAATAAATAAATAAATA AAAATAAATAAATAAATAAATAAATAAATA 7: 117,721,122 (GRCm39) probably benign Het
Bpnt1 T A 1: 185,077,504 (GRCm39) probably null Het
Ccnt1 C T 15: 98,442,189 (GRCm39) V360I probably benign Het
Chd4 T C 6: 125,105,908 (GRCm39) S1829P possibly damaging Het
Dennd1b A T 1: 138,981,122 (GRCm39) N112I probably damaging Het
Fat2 A T 11: 55,174,805 (GRCm39) D1969E probably benign Het
Flywch1 A C 17: 23,979,591 (GRCm39) D394E probably benign Het
Gal3st4 T A 5: 138,263,733 (GRCm39) probably null Het
Gm14403 T C 2: 177,200,492 (GRCm39) L146P probably damaging Het
Gm5283 G T 3: 17,285,123 (GRCm39) noncoding transcript Het
Gpr161 T A 1: 165,134,029 (GRCm39) L97Q probably damaging Het
Gstm2 A T 3: 107,892,411 (GRCm39) M105K possibly damaging Het
Hecw2 A G 1: 53,880,018 (GRCm39) Y1264H probably damaging Het
Ifi206 T A 1: 173,308,952 (GRCm39) Q348L possibly damaging Het
Ighv1-83 A T 12: 115,927,489 (GRCm39) M87K possibly damaging Het
Ighv2-7 A T 12: 113,771,154 (GRCm39) S44T probably damaging Het
Itga2b T C 11: 102,358,692 (GRCm39) N75S probably benign Het
Krt20 A G 11: 99,319,811 (GRCm39) V431A unknown Het
Krt24 A T 11: 99,174,452 (GRCm39) I205N possibly damaging Het
Lmo2 T C 2: 103,811,407 (GRCm39) Y147H probably damaging Het
Lrrc31 A T 3: 30,745,446 (GRCm39) L67* probably null Het
Lrrc37a A G 11: 103,395,135 (GRCm39) F97L probably benign Het
Mapkap1 G A 2: 34,487,434 (GRCm39) probably null Het
Mgat4d T G 8: 84,084,787 (GRCm39) probably null Het
Mrgprb3 C T 7: 48,293,054 (GRCm39) V166I probably benign Het
Myh11 T A 16: 14,052,329 (GRCm39) Q379L possibly damaging Het
Myh7 T C 14: 55,222,590 (GRCm39) S782G probably benign Het
Nobox T C 6: 43,282,053 (GRCm39) D340G probably damaging Het
Ntn4 C T 10: 93,480,362 (GRCm39) R29C probably damaging Het
Or2t29 G A 11: 58,433,396 (GRCm39) T315I probably benign Het
Or5b101 T A 19: 13,005,661 (GRCm39) I11F probably benign Het
Pikfyve T A 1: 65,307,959 (GRCm39) I1845N probably damaging Het
Pramel15 A G 4: 144,103,590 (GRCm39) Y179H probably benign Het
Rad21l T G 2: 151,509,927 (GRCm39) H58P probably damaging Het
Scnn1g T C 7: 121,345,825 (GRCm39) L316S probably damaging Het
Serpina5 G A 12: 104,068,460 (GRCm39) V174I probably damaging Het
Shank1 T C 7: 43,993,135 (GRCm39) S788P unknown Het
Shisal1 T A 15: 84,301,397 (GRCm39) H82L probably damaging Het
Snap47 A G 11: 59,319,343 (GRCm39) V265A possibly damaging Het
Steap3 T A 1: 120,171,616 (GRCm39) H163L probably benign Het
Sycp2 T C 2: 178,035,754 (GRCm39) probably benign Het
Tet2 A G 3: 133,173,076 (GRCm39) F1729L probably benign Het
Thsd7b T C 1: 130,116,276 (GRCm39) V1343A probably benign Het
Thumpd2 G A 17: 81,334,130 (GRCm39) T486I probably damaging Het
Ttc41 G T 10: 86,565,662 (GRCm39) M405I possibly damaging Het
Ttn T C 2: 76,577,873 (GRCm39) D24340G probably damaging Het
Vmn1r10 T G 6: 57,090,602 (GRCm39) F65V possibly damaging Het
Vmn2r118 G T 17: 55,899,581 (GRCm39) D774E probably damaging Het
Vmn2r13 C T 5: 109,304,331 (GRCm39) C700Y probably damaging Het
Wsb1 A C 11: 79,131,217 (GRCm39) M393R possibly damaging Het
Zmat3 A G 3: 32,397,504 (GRCm39) Y214H probably benign Het
Zswim3 C T 2: 164,662,099 (GRCm39) T193I possibly 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
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
Predicted Primers PCR Primer
(F):5'- CTTCATGAGGTGCTGTAAGTAAACAC -3'
(R):5'- ACGCTGACCTTAAATGGGAG -3'

Sequencing Primer
(F):5'- TGAGGTGCTGTAAGTAAACACAATAG -3'
(R):5'- CGCTGACCTTAAATGGGAGAAAAC -3'
Posted On 2016-02-04