Incidental Mutation 'IGL03392:Ipo5'
ID 421088
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ipo5
Ensembl Gene ENSMUSG00000030662
Gene Name importin 5
Synonyms 1110011C18Rik, RanBP5, Kpnb3, importin beta 3, IMB3, 5730478E03Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.919) question?
Stock # IGL03392
Quality Score
Status
Chromosome 14
Chromosomal Location 121148636-121185411 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 121180099 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 844 (D844E)
Ref Sequence ENSEMBL: ENSMUSP00000032898 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032898]
AlphaFold Q8BKC5
Predicted Effect probably damaging
Transcript: ENSMUST00000032898
AA Change: D844E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000032898
Gene: ENSMUSG00000030662
AA Change: D844E

DomainStartEndE-ValueType
low complexity region 65 72 N/A INTRINSIC
Pfam:HEAT_2 359 467 3.3e-13 PFAM
Pfam:HEAT_EZ 372 426 3.7e-10 PFAM
Pfam:Vac14_Fab1_bd 373 430 3.8e-9 PFAM
Pfam:HEAT 400 430 4.2e-7 PFAM
Pfam:HEAT 906 936 4.2e-6 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228277
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Nucleocytoplasmic transport, a signal- and energy-dependent process, takes place through nuclear pore complexes embedded in the nuclear envelope. The import of proteins containing a nuclear localization signal (NLS) requires the NLS import receptor, a heterodimer of importin alpha and beta subunits also known as karyopherins. Importin alpha binds the NLS-containing cargo in the cytoplasm and importin beta docks the complex at the cytoplasmic side of the nuclear pore complex. In the presence of nucleoside triphosphates and the small GTP binding protein Ran, the complex moves into the nuclear pore complex and the importin subunits dissociate. Importin alpha enters the nucleoplasm with its passenger protein and importin beta remains at the pore. Interactions between importin beta and the FG repeats of nucleoporins are essential in translocation through the pore complex. The protein encoded by this gene is a member of the importin beta family. [provided by RefSeq, Jul 2008]
Allele List at MGI

All alleles(33) : Targeted, other(2) Gene trapped(31)

Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss2 T A 2: 155,403,931 (GRCm39) D692E probably damaging Het
Adgrb3 T A 1: 25,543,529 (GRCm39) R366S probably damaging Het
Afg3l2 C A 18: 67,547,139 (GRCm39) probably benign Het
Cd5 T C 19: 10,703,653 (GRCm39) probably benign Het
Cnbd1 A G 4: 18,862,111 (GRCm39) S360P probably damaging Het
Col13a1 A T 10: 61,721,490 (GRCm39) L305I possibly damaging Het
Commd7 A T 2: 153,464,684 (GRCm39) probably benign Het
Cpsf6 A T 10: 117,203,884 (GRCm39) Y23N probably damaging Het
Cry1 A G 10: 84,992,993 (GRCm39) V75A possibly damaging Het
Cyp2c39 A G 19: 39,501,767 (GRCm39) N107D probably benign Het
Dcaf11 T A 14: 55,798,878 (GRCm39) V45E probably damaging Het
Dnm2 A G 9: 21,385,907 (GRCm39) E310G probably damaging Het
Fat3 T A 9: 15,915,158 (GRCm39) I1597L probably benign Het
Fcamr A G 1: 130,728,685 (GRCm39) probably benign Het
Fer A G 17: 64,298,637 (GRCm39) I529V probably damaging Het
Fhdc1 T C 3: 84,351,826 (GRCm39) K1133R possibly damaging Het
Foxd3 A G 4: 99,545,432 (GRCm39) K191E probably damaging Het
Fut2 C T 7: 45,300,193 (GRCm39) G193E possibly damaging Het
Gbp8 A G 5: 105,164,410 (GRCm39) probably null Het
Glb1 T G 9: 114,259,389 (GRCm39) N106K probably damaging Het
Hpx A G 7: 105,241,609 (GRCm39) I295T probably damaging Het
Krt17 T C 11: 100,150,561 (GRCm39) I159V possibly damaging Het
Lgi4 G A 7: 30,762,605 (GRCm39) probably null Het
Lrrc49 T C 9: 60,573,563 (GRCm39) probably benign Het
Ltn1 T C 16: 87,222,499 (GRCm39) K178R probably damaging Het
Myh8 T A 11: 67,185,244 (GRCm39) W832R probably damaging Het
Nbn A G 4: 15,962,362 (GRCm39) N30S probably damaging Het
Or2j3 A G 17: 38,615,786 (GRCm39) S189P probably benign Het
Or4a72 A T 2: 89,405,593 (GRCm39) V159D probably damaging Het
Or4f59 T A 2: 111,873,321 (GRCm39) N19Y probably benign Het
Or51ai2 T C 7: 103,587,232 (GRCm39) V215A probably benign Het
Pcdh15 A T 10: 74,460,104 (GRCm39) I1314F probably damaging Het
Phf14 G A 6: 11,962,658 (GRCm39) S435N probably damaging Het
Prss45 T A 9: 110,669,618 (GRCm39) Y231* probably null Het
Pus7l T C 15: 94,434,449 (GRCm39) D339G probably damaging Het
Sbk2 A G 7: 4,960,408 (GRCm39) F254S probably damaging Het
Serpina1b T G 12: 103,698,329 (GRCm39) K173N possibly damaging Het
Slc13a5 G A 11: 72,136,004 (GRCm39) T469I probably damaging Het
Spon1 A G 7: 113,633,522 (GRCm39) E655G probably damaging Het
Sv2b T C 7: 74,806,508 (GRCm39) probably null Het
Treh A G 9: 44,597,228 (GRCm39) D514G probably damaging Het
Umodl1 T A 17: 31,215,329 (GRCm39) L1051Q probably damaging Het
Usp5 A G 6: 124,803,350 (GRCm39) F4S probably damaging Het
Vmn1r16 A G 6: 57,299,879 (GRCm39) S248P probably damaging Het
Other mutations in Ipo5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01461:Ipo5 APN 14 121,165,945 (GRCm39) missense probably damaging 0.98
IGL01614:Ipo5 APN 14 121,172,507 (GRCm39) missense probably benign 0.01
IGL01835:Ipo5 APN 14 121,163,650 (GRCm39) missense probably benign 0.24
IGL02010:Ipo5 APN 14 121,170,789 (GRCm39) missense probably benign 0.20
IGL02303:Ipo5 APN 14 121,154,795 (GRCm39) missense probably benign
IGL02344:Ipo5 APN 14 121,180,191 (GRCm39) splice site probably benign
IGL02657:Ipo5 APN 14 121,181,212 (GRCm39) missense possibly damaging 0.47
IGL03094:Ipo5 APN 14 121,181,089 (GRCm39) splice site probably benign
IGL03158:Ipo5 APN 14 121,179,303 (GRCm39) splice site probably benign
IGL03309:Ipo5 APN 14 121,157,416 (GRCm39) missense probably benign
3-1:Ipo5 UTSW 14 121,170,348 (GRCm39) missense probably benign 0.41
PIT4544001:Ipo5 UTSW 14 121,165,949 (GRCm39) missense probably damaging 0.99
R0326:Ipo5 UTSW 14 121,159,635 (GRCm39) missense probably benign 0.19
R0505:Ipo5 UTSW 14 121,180,145 (GRCm39) missense possibly damaging 0.74
R0559:Ipo5 UTSW 14 121,176,053 (GRCm39) missense probably damaging 1.00
R0590:Ipo5 UTSW 14 121,181,769 (GRCm39) missense possibly damaging 0.76
R0969:Ipo5 UTSW 14 121,181,937 (GRCm39) missense possibly damaging 0.64
R1450:Ipo5 UTSW 14 121,181,805 (GRCm39) missense probably benign 0.04
R1672:Ipo5 UTSW 14 121,170,714 (GRCm39) missense probably damaging 1.00
R2471:Ipo5 UTSW 14 121,159,574 (GRCm39) missense probably benign 0.12
R3508:Ipo5 UTSW 14 121,176,956 (GRCm39) missense probably damaging 1.00
R3696:Ipo5 UTSW 14 121,159,574 (GRCm39) missense probably benign 0.12
R4118:Ipo5 UTSW 14 121,176,073 (GRCm39) missense probably benign 0.04
R4418:Ipo5 UTSW 14 121,181,305 (GRCm39) missense possibly damaging 0.81
R4760:Ipo5 UTSW 14 121,179,054 (GRCm39) missense probably benign 0.02
R4839:Ipo5 UTSW 14 121,157,450 (GRCm39) missense probably benign 0.00
R4913:Ipo5 UTSW 14 121,172,498 (GRCm39) missense probably damaging 1.00
R5326:Ipo5 UTSW 14 121,163,683 (GRCm39) missense probably benign
R5339:Ipo5 UTSW 14 121,181,122 (GRCm39) missense probably damaging 1.00
R5483:Ipo5 UTSW 14 121,157,450 (GRCm39) missense probably benign 0.06
R5542:Ipo5 UTSW 14 121,163,683 (GRCm39) missense probably benign
R5579:Ipo5 UTSW 14 121,176,025 (GRCm39) missense probably benign 0.26
R5954:Ipo5 UTSW 14 121,157,396 (GRCm39) missense probably damaging 1.00
R6948:Ipo5 UTSW 14 121,160,527 (GRCm39) missense probably benign 0.00
R7365:Ipo5 UTSW 14 121,157,497 (GRCm39) missense probably benign
R7563:Ipo5 UTSW 14 121,183,567 (GRCm39) missense probably benign 0.00
R7782:Ipo5 UTSW 14 121,170,537 (GRCm39) missense possibly damaging 0.95
R7911:Ipo5 UTSW 14 121,167,051 (GRCm39) splice site probably null
R8222:Ipo5 UTSW 14 121,157,414 (GRCm39) missense probably benign 0.00
R8238:Ipo5 UTSW 14 121,172,652 (GRCm39) missense probably damaging 1.00
R8483:Ipo5 UTSW 14 121,183,560 (GRCm39) missense probably benign
R8826:Ipo5 UTSW 14 121,157,366 (GRCm39) missense probably damaging 1.00
R9042:Ipo5 UTSW 14 121,160,547 (GRCm39) missense probably benign 0.01
W0251:Ipo5 UTSW 14 121,176,197 (GRCm39) missense probably benign 0.17
X0062:Ipo5 UTSW 14 121,179,083 (GRCm39) missense probably benign 0.02
Posted On 2016-08-02