Incidental Mutation 'IGL02303:Ipo5'
List |< first << previous [record 10 of 39] next >> last >|
ID287471
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ipo5
Ensembl Gene ENSMUSG00000030662
Gene Nameimportin 5
SynonymsRanbp5, Kpnb3, 5730478E03Rik, IMB3, 1110011C18Rik
Accession Numbers

Genbank: NM_023579; MGI: 1917822

Is this an essential gene? Probably essential (E-score: 0.925) question?
Stock #IGL02303
Quality Score
Status
Chromosome14
Chromosomal Location120911224-120947999 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 120917383 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 40 (S40T)
Ref Sequence ENSEMBL: ENSMUSP00000032898 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032898]
Predicted Effect probably benign
Transcript: ENSMUST00000032898
AA Change: S40T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000032898
Gene: ENSMUSG00000030662
AA Change: S40T

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A G 11: 110,154,550 F319S probably damaging Het
Ap3b1 A G 13: 94,528,319 D922G unknown Het
Bhlhe41 A T 6: 145,864,156 H107Q probably damaging Het
Csmd2 C A 4: 128,369,008 H662Q probably benign Het
Dnah8 T C 17: 30,713,047 V1463A probably benign Het
Ebf3 A T 7: 137,309,365 V140E probably benign Het
Havcr2 T A 11: 46,479,281 probably benign Het
Hexb G A 13: 97,176,893 A485V probably damaging Het
Igkv5-37 T A 6: 69,963,489 Q57L probably damaging Het
Kcnj8 A G 6: 142,570,111 M90T probably benign Het
Kif21b T A 1: 136,159,757 L937Q probably damaging Het
Kmt2c A C 5: 25,310,157 L2896R probably damaging Het
Ldlrap1 A T 4: 134,757,395 I96N probably damaging Het
Leo1 A G 9: 75,445,999 probably benign Het
Mbnl2 T C 14: 120,404,647 M341T probably benign Het
Nfatc2 G A 2: 168,506,901 R669* probably null Het
Nhlrc2 T A 19: 56,574,848 V293E probably damaging Het
Olfr23 T C 11: 73,940,450 F68S possibly damaging Het
Olfr521 A G 7: 99,767,972 D270G possibly damaging Het
Olfr610 A T 7: 103,506,088 M286K probably benign Het
Olfr632 A G 7: 103,937,563 Q61R possibly damaging Het
Otoa T A 7: 121,132,924 probably null Het
Pcnt T C 10: 76,442,559 probably benign Het
Recql4 G T 15: 76,708,571 Q307K possibly damaging Het
Sp140 T A 1: 85,643,009 Y453* probably null Het
Sspo G A 6: 48,484,705 V3600I possibly damaging Het
Sybu T C 15: 44,673,223 E441G probably benign Het
Syne3 A T 12: 104,963,294 H222Q probably damaging Het
Tef T C 15: 81,821,295 V173A probably benign Het
Tlcd1 A G 11: 78,180,334 probably null Het
Tmod4 C A 3: 95,125,642 Q30K probably benign Het
Tpgs1 T C 10: 79,675,488 Y155H probably damaging Het
Trib3 G A 2: 152,343,150 P60S probably benign Het
Ttn T A 2: 76,730,206 T20957S probably damaging Het
Vars T C 17: 35,015,484 probably benign Het
Vps13c T C 9: 67,945,481 probably benign Het
Zc3h4 T C 7: 16,434,077 S704P unknown Het
Zfp644 G A 5: 106,637,314 R456W probably damaging Het
Other mutations in Ipo5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01461:Ipo5 APN 14 120928533 missense probably damaging 0.98
IGL01614:Ipo5 APN 14 120935095 missense probably benign 0.01
IGL01835:Ipo5 APN 14 120926238 missense probably benign 0.24
IGL02010:Ipo5 APN 14 120933377 missense probably benign 0.20
IGL02344:Ipo5 APN 14 120942779 splice site probably benign
IGL02657:Ipo5 APN 14 120943800 missense possibly damaging 0.47
IGL03094:Ipo5 APN 14 120943677 splice site probably benign
IGL03158:Ipo5 APN 14 120941891 splice site probably benign
IGL03309:Ipo5 APN 14 120920004 missense probably benign
IGL03392:Ipo5 APN 14 120942687 missense probably damaging 0.99
3-1:Ipo5 UTSW 14 120932936 missense probably benign 0.41
PIT4544001:Ipo5 UTSW 14 120928537 missense probably damaging 0.99
R0326:Ipo5 UTSW 14 120922223 missense probably benign 0.19
R0505:Ipo5 UTSW 14 120942733 missense possibly damaging 0.74
R0559:Ipo5 UTSW 14 120938641 missense probably damaging 1.00
R0590:Ipo5 UTSW 14 120944357 missense possibly damaging 0.76
R0969:Ipo5 UTSW 14 120944525 missense possibly damaging 0.64
R1450:Ipo5 UTSW 14 120944393 missense probably benign 0.04
R1672:Ipo5 UTSW 14 120933302 missense probably damaging 1.00
R2471:Ipo5 UTSW 14 120922162 missense probably benign 0.12
R3508:Ipo5 UTSW 14 120939544 missense probably damaging 1.00
R3696:Ipo5 UTSW 14 120922162 missense probably benign 0.12
R4118:Ipo5 UTSW 14 120938661 missense probably benign 0.04
R4418:Ipo5 UTSW 14 120943893 missense possibly damaging 0.81
R4760:Ipo5 UTSW 14 120941642 missense probably benign 0.02
R4839:Ipo5 UTSW 14 120920038 missense probably benign 0.00
R4913:Ipo5 UTSW 14 120935086 missense probably damaging 1.00
R5326:Ipo5 UTSW 14 120926271 missense probably benign
R5339:Ipo5 UTSW 14 120943710 missense probably damaging 1.00
R5483:Ipo5 UTSW 14 120920038 missense probably benign 0.06
R5542:Ipo5 UTSW 14 120926271 missense probably benign
R5579:Ipo5 UTSW 14 120938613 missense probably benign 0.26
R5954:Ipo5 UTSW 14 120919984 missense probably damaging 1.00
R6948:Ipo5 UTSW 14 120923115 missense probably benign 0.00
R7365:Ipo5 UTSW 14 120920085 missense probably benign
R7563:Ipo5 UTSW 14 120946155 missense probably benign 0.00
R7782:Ipo5 UTSW 14 120933125 missense possibly damaging 0.95
R7911:Ipo5 UTSW 14 120929639 intron probably null
W0251:Ipo5 UTSW 14 120938785 missense probably benign 0.17
X0062:Ipo5 UTSW 14 120941671 missense probably benign 0.02
Posted On2015-04-16