Incidental Mutation 'IGL01835:Ipo5'
ID 154928
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 # IGL01835
Quality Score
Status
Chromosome 14
Chromosomal Location 121148636-121185411 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 121163650 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 236 (V236A)
Ref Sequence ENSEMBL: ENSMUSP00000032898 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032898]
AlphaFold Q8BKC5
Predicted Effect probably benign
Transcript: ENSMUST00000032898
AA Change: V236A

PolyPhen 2 Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000032898
Gene: ENSMUSG00000030662
AA Change: V236A

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: ENSMUST00000227270
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T A 12: 71,213,957 (GRCm39) M728K probably benign Het
2700049A03Rik T A 12: 71,213,955 (GRCm39) Y727* probably null Het
Adam23 T C 1: 63,582,278 (GRCm39) Y309H probably damaging Het
Ash2l C T 8: 26,329,868 (GRCm39) V97M probably damaging Het
Cyp4f13 A G 17: 33,149,588 (GRCm39) F83L probably benign Het
Dnah6 A T 6: 73,112,784 (GRCm39) S1607T probably damaging Het
Dock2 T A 11: 34,260,435 (GRCm39) M969L possibly damaging Het
Dse T A 10: 34,036,213 (GRCm39) probably benign Het
Dusp22 C T 13: 30,892,666 (GRCm39) probably null Het
F5 G A 1: 164,021,937 (GRCm39) V1471I probably benign Het
Gm14403 A T 2: 177,199,049 (GRCm39) E48D probably damaging Het
Gm6309 G A 5: 146,105,085 (GRCm39) A276V probably damaging Het
Icam4 A T 9: 20,941,086 (GRCm39) T113S probably damaging Het
Mrc2 T G 11: 105,227,503 (GRCm39) F579V probably damaging Het
Myl4 T A 11: 104,468,279 (GRCm39) M1K probably null Het
Oas3 A T 5: 120,904,193 (GRCm39) C560* probably null Het
Or2w25 T C 11: 59,504,165 (GRCm39) V125A probably damaging Het
Or52e18 T C 7: 104,609,669 (GRCm39) N90S probably benign Het
Prlr G A 15: 10,329,129 (GRCm39) V535I probably damaging Het
Ptprd T C 4: 76,165,058 (GRCm39) T48A probably benign Het
Rasa4 A G 5: 136,131,461 (GRCm39) H485R possibly damaging Het
Rnf13 A T 3: 57,728,007 (GRCm39) H229L probably damaging Het
Rpap3 T C 15: 97,601,120 (GRCm39) D39G possibly damaging Het
Sec23ip T A 7: 128,357,035 (GRCm39) probably null Het
Sirpa T A 2: 129,457,484 (GRCm39) F186Y possibly damaging Het
Slc26a11 T C 11: 119,268,040 (GRCm39) Y473H probably benign Het
Slc36a2 T C 11: 55,053,559 (GRCm39) I360V probably benign Het
Spg11 G A 2: 121,918,705 (GRCm39) R975C probably benign Het
Sppl2b T A 10: 80,701,175 (GRCm39) I350N probably damaging Het
Tas2r139 A T 6: 42,118,366 (GRCm39) N166I probably benign Het
Trav14n-3 A G 14: 53,607,786 (GRCm39) T39A possibly damaging Het
Vmn2r61 A G 7: 41,950,015 (GRCm39) M812V probably benign Het
Vmn2r87 A C 10: 130,314,978 (GRCm39) F203V probably damaging Het
Vwde A C 6: 13,186,823 (GRCm39) V888G probably benign Het
Zbtb17 T C 4: 141,192,749 (GRCm39) probably null 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
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
IGL03392:Ipo5 APN 14 121,180,099 (GRCm39) missense probably damaging 0.99
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 2014-02-04