Incidental Mutation 'IGL02456:Nup85'
ID294191
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nup85
Ensembl Gene ENSMUSG00000020739
Gene Namenucleoporin 85
Synonymsfrount, Pcnt1
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.974) question?
Stock #IGL02456
Quality Score
Status
Chromosome11
Chromosomal Location115564434-115583985 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) T to C at 115581865 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000138597 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019135] [ENSMUST00000021085] [ENSMUST00000106508] [ENSMUST00000140986] [ENSMUST00000144473] [ENSMUST00000156173]
Predicted Effect probably benign
Transcript: ENSMUST00000019135
SMART Domains Protein: ENSMUSP00000019135
Gene: ENSMUSG00000020740

DomainStartEndE-ValueType
VHS 9 142 9.36e-55 SMART
low complexity region 174 185 N/A INTRINSIC
Pfam:GAT 222 299 1.7e-20 PFAM
low complexity region 334 369 N/A INTRINSIC
low complexity region 383 395 N/A INTRINSIC
low complexity region 455 471 N/A INTRINSIC
low complexity region 483 498 N/A INTRINSIC
low complexity region 532 554 N/A INTRINSIC
Alpha_adaptinC2 586 710 6.09e-43 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000021085
SMART Domains Protein: ENSMUSP00000021085
Gene: ENSMUSG00000020739

DomainStartEndE-ValueType
Pfam:Nucleopor_Nup85 53 606 1.2e-181 PFAM
low complexity region 635 649 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106508
SMART Domains Protein: ENSMUSP00000102117
Gene: ENSMUSG00000020740

DomainStartEndE-ValueType
VHS 9 142 9.36e-55 SMART
low complexity region 174 185 N/A INTRINSIC
Pfam:GAT 206 307 1.3e-32 PFAM
low complexity region 377 393 N/A INTRINSIC
low complexity region 405 420 N/A INTRINSIC
low complexity region 454 476 N/A INTRINSIC
Alpha_adaptinC2 508 632 6.09e-43 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123485
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127126
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128437
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128745
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134209
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138998
Predicted Effect probably benign
Transcript: ENSMUST00000140986
SMART Domains Protein: ENSMUSP00000117333
Gene: ENSMUSG00000020739

DomainStartEndE-ValueType
Pfam:Nucleopor_Nup85 21 280 5.9e-107 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143351
Predicted Effect probably benign
Transcript: ENSMUST00000144473
SMART Domains Protein: ENSMUSP00000116069
Gene: ENSMUSG00000020739

DomainStartEndE-ValueType
Pfam:Nucleopor_Nup85 1 170 3e-56 PFAM
Pfam:Nucleopor_Nup85 168 274 1.1e-47 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154832
Predicted Effect probably benign
Transcript: ENSMUST00000156173
SMART Domains Protein: ENSMUSP00000138597
Gene: ENSMUSG00000020740

DomainStartEndE-ValueType
VHS 9 142 9.36e-55 SMART
low complexity region 174 185 N/A INTRINSIC
Pfam:GAT 206 307 7.3e-32 PFAM
low complexity region 334 369 N/A INTRINSIC
low complexity region 383 395 N/A INTRINSIC
low complexity region 455 471 N/A INTRINSIC
low complexity region 483 498 N/A INTRINSIC
low complexity region 532 554 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein component of the Nup107-160 subunit of the nuclear pore complex. Nuclear pore complexes are embedded in the nuclear envelope and promote bidirectional transport of macromolecules between the cytoplasm and nucleus. The encoded protein can also bind to the C-terminus of chemokine (C-C motif) receptor 2 (CCR2) and promote chemotaxis of monocytes, thereby participating in the inflammatory response. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610009O20Rik T A 18: 38,261,124 L458Q probably damaging Het
4921511C20Rik T A X: 127,394,961 Y174* probably null Het
Apc C A 18: 34,313,882 S1243* probably null Het
Atp8b5 A G 4: 43,365,578 T731A probably benign Het
Bcl2a1c T A 9: 114,330,390 F79I probably damaging Het
Brip1 G T 11: 86,065,099 L863I possibly damaging Het
Cbx4 T A 11: 119,082,112 K146* probably null Het
Ccdc36 G T 9: 108,406,621 T208K probably benign Het
Ces1a C T 8: 93,039,498 V163I possibly damaging Het
Ces5a C T 8: 93,528,644 probably benign Het
Cfhr1 A C 1: 139,556,393 N128K possibly damaging Het
Clcn3 T C 8: 60,941,357 D46G probably damaging Het
Cntnap1 T G 11: 101,178,129 I166S probably benign Het
Cntnap3 A T 13: 64,799,058 probably benign Het
Cntnap5c T A 17: 58,407,744 probably benign Het
Ddx23 A T 15: 98,647,549 V626E probably damaging Het
Gcm2 T C 13: 41,103,001 Y424C probably benign Het
Gm9964 A G 11: 79,296,370 F84L probably damaging Het
Grn T A 11: 102,436,104 D509E probably benign Het
Kdm5c G A X: 152,246,318 D343N probably damaging Het
Ly75 C T 2: 60,293,781 M1717I probably benign Het
Map1a C A 2: 121,298,653 P133T probably damaging Het
Mpp2 C A 11: 102,059,373 A552S possibly damaging Het
Mtr T C 13: 12,199,094 I897M probably damaging Het
Npas3 A T 12: 54,048,767 I337F probably damaging Het
Olfr118 T A 17: 37,672,449 M142K possibly damaging Het
Olfr325 T A 11: 58,581,198 L118H possibly damaging Het
Olfr517 A G 7: 108,869,050 Y35H probably benign Het
Olfr630 T A 7: 103,755,493 I31F possibly damaging Het
Olfr683 T C 7: 105,143,759 N178S probably damaging Het
Pdia4 A T 6: 47,803,495 D301E probably benign Het
Phf2 C A 13: 48,828,846 G134C unknown Het
Polr2h T A 16: 20,720,602 L76H probably damaging Het
Rbm47 G A 5: 66,027,021 R80C probably damaging Het
Sfmbt1 T C 14: 30,785,880 S286P probably damaging Het
Slc5a12 T C 2: 110,616,834 probably benign Het
Tacc2 T C 7: 130,626,261 S1559P probably benign Het
Tbc1d16 T G 11: 119,210,546 H46P probably damaging Het
Tbck A G 3: 132,734,714 probably benign Het
Tmtc4 A T 14: 122,925,962 probably null Het
Ttc13 T C 8: 124,690,361 probably null Het
Ttc17 T C 2: 94,362,785 probably benign Het
Vmn1r121 T A 7: 21,098,513 M1L possibly damaging Het
Vps13c T C 9: 67,952,976 S2825P probably damaging Het
Zan A C 5: 137,446,844 S1718A unknown Het
Zfp39 G T 11: 58,902,800 Y37* probably null Het
Zfp407 T C 18: 84,558,641 N1449S probably damaging Het
Zhx2 C A 15: 57,823,639 D801E possibly damaging Het
Other mutations in Nup85
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00550:Nup85 APN 11 115581756 missense probably damaging 1.00
IGL01538:Nup85 APN 11 115569714 missense possibly damaging 0.81
IGL01775:Nup85 APN 11 115580767 missense probably damaging 1.00
IGL02170:Nup85 APN 11 115577931 missense probably damaging 0.97
IGL02888:Nup85 APN 11 115578800 missense possibly damaging 0.89
IGL03210:Nup85 APN 11 115566636 missense probably benign 0.11
R0195:Nup85 UTSW 11 115564531 start codon destroyed probably null 1.00
R0394:Nup85 UTSW 11 115564531 start codon destroyed probably null 1.00
R0639:Nup85 UTSW 11 115564531 start codon destroyed probably null 1.00
R0883:Nup85 UTSW 11 115568370 nonsense probably null
R1567:Nup85 UTSW 11 115568398 missense possibly damaging 0.83
R1774:Nup85 UTSW 11 115582945 missense probably benign 0.01
R1846:Nup85 UTSW 11 115568413 missense probably benign 0.11
R1851:Nup85 UTSW 11 115581817 missense probably damaging 1.00
R2084:Nup85 UTSW 11 115568691 missense possibly damaging 0.71
R4766:Nup85 UTSW 11 115577925 splice site probably null
R5748:Nup85 UTSW 11 115580512 missense probably damaging 1.00
R6362:Nup85 UTSW 11 115583734 missense probably damaging 0.98
R6906:Nup85 UTSW 11 115580943 missense probably damaging 1.00
R6951:Nup85 UTSW 11 115582955 missense possibly damaging 0.95
Posted On2015-04-16