Incidental Mutation 'R6254:Ipo7'
ID 505983
Institutional Source Beutler Lab
Gene Symbol Ipo7
Ensembl Gene ENSMUSG00000066232
Gene Name importin 7
Synonyms RanBP7, Imp7, A330055O14Rik
MMRRC Submission 044371-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.957) question?
Stock # R6254 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 109617522-109655816 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 109648267 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 688 (D688E)
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: D688E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000081782
Gene: ENSMUSG00000066232
AA Change: D688E

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 0.0641 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.4%
Validation Efficiency 100% (82/82)
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6b A T 12: 113,453,190 (GRCm39) L2F probably damaging Het
Ank2 T A 3: 126,735,453 (GRCm39) probably benign Het
Anpep T G 7: 79,488,981 (GRCm39) D369A probably damaging Het
App T C 16: 84,775,065 (GRCm39) E599G probably damaging Het
Asphd1 C T 7: 126,548,040 (GRCm39) V88I probably benign Het
Atad5 A T 11: 80,018,215 (GRCm39) I1389F probably damaging Het
Blm T C 7: 80,130,090 (GRCm39) N950S probably benign Het
Bsn A T 9: 107,989,065 (GRCm39) M2229K probably damaging Het
Cacna2d2 A G 9: 107,386,415 (GRCm39) M181V probably benign Het
Cadps2 T A 6: 23,329,162 (GRCm39) probably null Het
Cdh1 T A 8: 107,390,430 (GRCm39) V590D probably damaging Het
Cdk5rap2 G A 4: 70,282,269 (GRCm39) T160M probably damaging Het
Cfap97d2 A G 8: 13,756,043 (GRCm39) D26G possibly damaging Het
Cfhr4 A G 1: 139,682,128 (GRCm39) I156T probably damaging Het
Chrna5 A G 9: 54,913,740 (GRCm39) M325V probably benign Het
Clca3a2 A G 3: 144,507,895 (GRCm39) I116T probably benign Het
Cyp2c23 T C 19: 43,993,902 (GRCm39) K488R probably benign Het
Edil3 T A 13: 89,467,848 (GRCm39) I451N probably damaging Het
Exph5 T G 9: 53,284,010 (GRCm39) S364A possibly damaging Het
Fam98c A G 7: 28,853,942 (GRCm39) S209P probably damaging Het
Fat3 G A 9: 15,907,441 (GRCm39) L2854F probably benign Het
Fbxo38 T C 18: 62,638,571 (GRCm39) probably null Het
Fermt2 T C 14: 45,713,516 (GRCm39) D205G probably damaging Het
Fmnl1 G A 11: 103,087,141 (GRCm39) probably benign Het
Fn3k A G 11: 121,325,894 (GRCm39) E27G probably damaging Het
Foxj2 A G 6: 122,815,098 (GRCm39) H378R probably damaging Het
Fubp1 A G 3: 151,938,045 (GRCm39) K140E possibly damaging Het
Gm7694 A T 1: 170,130,103 (GRCm39) C98* probably null Het
Golgb1 T C 16: 36,734,340 (GRCm39) S1196P probably damaging Het
Gpm6a G A 8: 55,500,431 (GRCm39) probably null Het
Hltf T A 3: 20,117,993 (GRCm39) N80K possibly damaging Het
Il1rap G A 16: 26,514,020 (GRCm39) R251H probably benign Het
Itgal T A 7: 126,924,375 (GRCm39) N897K probably damaging Het
Itsn2 A G 12: 4,674,982 (GRCm39) probably null Het
Kcnk13 A G 12: 99,931,631 (GRCm39) probably benign Het
Kdm7a A G 6: 39,147,203 (GRCm39) L248P probably damaging Het
Kmt2c T C 5: 25,554,872 (GRCm39) E1254G possibly damaging Het
Ldah G A 12: 8,325,912 (GRCm39) probably benign Het
Lingo1 T A 9: 56,527,371 (GRCm39) D406V possibly damaging Het
Lratd2 A G 15: 60,695,650 (GRCm39) I32T probably damaging Het
Lrriq1 A T 10: 103,051,312 (GRCm39) V480E probably benign Het
Mtcl1 C T 17: 66,665,129 (GRCm39) R1142H probably benign Het
Mtmr3 G A 11: 4,447,381 (GRCm39) Q360* probably null Het
Muc6 T C 7: 141,237,380 (GRCm39) N252S probably benign Het
Naa20 T C 2: 145,745,240 (GRCm39) L4P probably damaging Het
Neb T A 2: 52,112,973 (GRCm39) I4274L probably benign Het
Noa1 A T 5: 77,457,516 (GRCm39) F130I probably benign Het
Nrg4 G T 9: 55,143,796 (GRCm39) H87N possibly damaging Het
Or51ai2 T A 7: 103,586,741 (GRCm39) H51Q probably benign Het
Or5m12 T A 2: 85,734,849 (GRCm39) Y183F probably damaging Het
P3h3 C T 6: 124,822,564 (GRCm39) E536K probably damaging Het
Pcdhb11 T C 18: 37,554,771 (GRCm39) S34P probably damaging Het
Pik3r1 T C 13: 101,825,914 (GRCm39) T71A possibly damaging Het
Plaur T A 7: 24,166,225 (GRCm39) C99S possibly damaging Het
Plekha5 G A 6: 140,532,162 (GRCm39) G501E probably damaging Het
Plxnd1 C T 6: 115,954,921 (GRCm39) V614M probably benign Het
Ppp2r3d T C 9: 101,025,786 (GRCm39) D307G possibly damaging Het
Prl3d3 C T 13: 27,341,453 (GRCm39) S28F possibly damaging Het
Prpf40a T C 2: 53,047,927 (GRCm39) M197V probably benign Het
Ptk7 C A 17: 46,883,568 (GRCm39) Q832H probably damaging Het
Qser1 T C 2: 104,620,435 (GRCm39) S126G probably benign Het
Rab3ip A T 10: 116,751,772 (GRCm39) C332S probably damaging Het
Raly C A 2: 154,699,286 (GRCm39) T30K probably damaging Het
Rbp2 G T 9: 98,372,700 (GRCm39) S13I probably benign Het
Rps6ka1 C T 4: 133,594,535 (GRCm39) M159I possibly damaging Het
Rufy3 C T 5: 88,732,168 (GRCm39) T57I probably benign Het
Samd4 A G 14: 47,254,088 (GRCm39) D184G probably damaging Het
Slc35f3 T C 8: 127,047,833 (GRCm39) C58R possibly damaging Het
Smarca4 T C 9: 21,611,173 (GRCm39) I1467T probably damaging Het
Spag17 T G 3: 99,972,901 (GRCm39) I1371S probably benign Het
Sptan1 T C 2: 29,897,561 (GRCm39) L1228P possibly damaging Het
Stk31 C T 6: 49,398,631 (GRCm39) A344V probably benign Het
Supt16 A G 14: 52,408,291 (GRCm39) W885R probably damaging Het
Tdrd9 T A 12: 111,992,334 (GRCm39) probably null Het
Tmod1 A G 4: 46,078,469 (GRCm39) probably null Het
Tnfsf13 A C 11: 69,575,309 (GRCm39) probably null Het
Trim75 C A 8: 65,436,094 (GRCm39) E119* probably null Het
Wdr6 T C 9: 108,452,110 (GRCm39) Y591C probably damaging Het
Wdr86 C T 5: 24,923,281 (GRCm39) R137H probably benign Het
Ythdf1 T A 2: 180,552,943 (GRCm39) Y424F probably damaging Het
Zfp984 G T 4: 147,840,643 (GRCm39) S69R possibly damaging Het
Zyg11a A G 4: 108,038,991 (GRCm39) F743L 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
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'- ACCGTTCTACAACAGCATGTC -3'
(R):5'- CACTTGTTTCCAAATGCTGGTATG -3'

Sequencing Primer
(F):5'- ACCGTTCTACAACAGCATGTCTTAGG -3'
(R):5'- CACACCAGGCTCATACATTTTTATG -3'
Posted On 2018-02-28