Incidental Mutation 'R6335:Ipo7'
ID 512907
Institutional Source Beutler Lab
Gene Symbol Ipo7
Ensembl Gene ENSMUSG00000066232
Gene Name importin 7
Synonyms RanBP7, Imp7, A330055O14Rik
MMRRC Submission 044489-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.957) question?
Stock # R6335 (G1)
Quality Score 99.0078
Status Validated
Chromosome 7
Chromosomal Location 109617522-109655816 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 109617675 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 15 (D15G)
Ref Sequence ENSEMBL: ENSMUSP00000081782 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084731] [ENSMUST00000208951]
AlphaFold Q9EPL8
Predicted Effect noncoding transcript
Transcript: ENSMUST00000082666
Predicted Effect possibly damaging
Transcript: ENSMUST00000084731
AA Change: D15G

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000081782
Gene: ENSMUSG00000066232
AA Change: D15G

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 possibly damaging
Transcript: ENSMUST00000208951
AA Change: D15G

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.5%
Validation Efficiency 100% (59/59)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp11a T C 8: 12,909,481 (GRCm39) probably null Het
Best3 G T 10: 116,838,556 (GRCm39) V205F probably benign Het
C1qtnf1 A G 11: 118,338,960 (GRCm39) H210R probably damaging Het
Camkv T C 9: 107,823,894 (GRCm39) probably null Het
Cdk5rap2 A C 4: 70,184,849 (GRCm39) D1200E possibly damaging Het
Cep192 T A 18: 67,967,784 (GRCm39) I756N probably damaging Het
Crocc2 A T 1: 93,130,560 (GRCm39) Q947L probably benign Het
Dcaf1 A G 9: 106,715,845 (GRCm39) T321A possibly damaging Het
Dgkz T C 2: 91,774,724 (GRCm39) M87V probably benign Het
Dmrt2 T A 19: 25,650,935 (GRCm39) S40R possibly damaging Het
Dpep1 T G 8: 123,927,391 (GRCm39) L315R probably damaging Het
Fam221b G T 4: 43,665,942 (GRCm39) T223N possibly damaging Het
Fasn A T 11: 120,706,185 (GRCm39) V1053E probably damaging Het
Galc T C 12: 98,208,973 (GRCm39) D227G probably damaging Het
Grik1 A G 16: 87,744,794 (GRCm39) L486P probably damaging Het
Grik5 A G 7: 24,713,019 (GRCm39) S836P probably benign Het
Grpel2 T C 18: 61,852,792 (GRCm39) K70R possibly damaging Het
Iqgap1 A G 7: 80,377,772 (GRCm39) Y1284H probably damaging Het
Lmo7 T C 14: 102,138,072 (GRCm39) S692P probably damaging Het
Mecom A G 3: 30,034,905 (GRCm39) L447P probably damaging Het
Mtor A G 4: 148,550,384 (GRCm39) D680G probably damaging Het
Muc16 T A 9: 18,572,004 (GRCm39) I172F unknown Het
Musk A G 4: 58,366,811 (GRCm39) I476M probably benign Het
Myef2 T C 2: 124,951,632 (GRCm39) T268A probably damaging Het
Naip1 A G 13: 100,563,060 (GRCm39) S702P probably damaging Het
Napa G T 7: 15,849,562 (GRCm39) S258I probably benign Het
Nfasc T A 1: 132,504,132 (GRCm39) I1039F probably damaging Het
Nlrc5 A G 8: 95,228,902 (GRCm39) S1238G probably benign Het
Or10q12 T C 19: 13,746,144 (GRCm39) V146A probably benign Het
Or1j12 A G 2: 36,342,734 (GRCm39) I46V probably benign Het
Or5w8 T A 2: 87,687,811 (GRCm39) C97* probably null Het
Pacs1 G T 19: 5,210,005 (GRCm39) N215K probably damaging Het
Parp10 A G 15: 76,126,388 (GRCm39) S267P probably benign Het
Pbrm1 G T 14: 30,806,052 (GRCm39) C995F probably damaging Het
Pcdh7 A T 5: 58,099,607 (GRCm39) probably null Het
Ppef2 T C 5: 92,383,613 (GRCm39) Y499C probably damaging Het
Pramel16 G T 4: 143,675,602 (GRCm39) T408K probably benign Het
Prex2 A C 1: 11,180,544 (GRCm39) I370L probably benign Het
Ptprd A G 4: 75,872,420 (GRCm39) Y1350H probably damaging Het
Rasgrp1 T C 2: 117,124,351 (GRCm39) K284E probably damaging Het
Rexo1 A T 10: 80,379,915 (GRCm39) Y23N probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Sash3 C T X: 47,248,398 (GRCm39) L307F probably damaging Homo
Scn9a T A 2: 66,398,608 (GRCm39) M1L possibly damaging Het
Serpinb6e C A 13: 34,021,805 (GRCm39) L174F probably benign Het
Siae C T 9: 37,544,277 (GRCm39) T275I probably benign Het
Sptbn5 C A 2: 119,884,900 (GRCm39) probably benign Het
Ss18l2 C T 9: 121,541,672 (GRCm39) T55I probably damaging Het
Taf1c A G 8: 120,328,518 (GRCm39) C163R probably damaging Het
Tanc2 C T 11: 105,748,382 (GRCm39) R505W probably damaging Het
Tango6 C A 8: 107,419,308 (GRCm39) P285Q possibly damaging Het
Tdrd9 G T 12: 112,008,186 (GRCm39) probably null Het
Tead3 A T 17: 28,552,299 (GRCm39) L307H probably damaging Het
Ticrr A C 7: 79,344,031 (GRCm39) probably null Het
Trpc4 T C 3: 54,224,995 (GRCm39) probably null Het
Upb1 A T 10: 75,264,135 (GRCm39) T194S probably benign Het
Vav3 A G 3: 109,470,512 (GRCm39) N566S probably benign Het
Vmn1r196 T A 13: 22,477,887 (GRCm39) S175R probably benign Het
Zscan29 T C 2: 120,991,917 (GRCm39) N589D 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
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
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'- AGGCGAGAAGGTTCTATCCG -3'
(R):5'- TGGGACACATCTCTACACCCTC -3'

Sequencing Primer
(F):5'- AGAAGGTTCTATCCGGGGCC -3'
(R):5'- ATGTGTCCAGACCGTCACG -3'
Posted On 2018-04-27