Incidental Mutation 'IGL01538:Nup85'
ID90039
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? Essential (E-score: 1.000) question?
Stock #IGL01538
Quality Score
Status
Chromosome11
Chromosomal Location115564434-115583985 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 115569714 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 140 (S140P)
Ref Sequence ENSEMBL: ENSMUSP00000021085 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021085] [ENSMUST00000144473]
Predicted Effect possibly damaging
Transcript: ENSMUST00000021085
AA Change: S140P

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000021085
Gene: ENSMUSG00000020739
AA Change: S140P

DomainStartEndE-ValueType
Pfam:Nucleopor_Nup85 53 606 1.2e-181 PFAM
low complexity region 635 649 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135893
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
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930533K18Rik A G 10: 70,872,202 noncoding transcript Het
Abca3 G T 17: 24,376,473 C328F possibly damaging Het
Aldh5a1 T C 13: 24,918,512 N323D possibly damaging Het
Atp5c1 T C 2: 10,068,666 Y32C probably damaging Het
Capn3 T G 2: 120,502,186 probably null Het
Ccdc113 C A 8: 95,551,238 D275E probably benign Het
Ccdc40 T A 11: 119,242,719 F562I possibly damaging Het
Cd96 T C 16: 46,109,127 T152A possibly damaging Het
Cdh7 T A 1: 110,061,140 D257E probably damaging Het
Cilp2 T C 8: 69,881,204 D1048G probably benign Het
Clrn2 T G 5: 45,460,066 L93R probably damaging Het
Crat C A 2: 30,409,966 G134V probably damaging Het
Dis3 A T 14: 99,097,745 N140K probably benign Het
Dmxl2 T A 9: 54,445,376 probably benign Het
Dus1l T A 11: 120,793,079 Q181L probably damaging Het
Ece1 A G 4: 137,948,544 T410A probably benign Het
Gcc1 T A 6: 28,421,048 H90L probably damaging Het
Gm16602 G A 13: 19,336,570 probably benign Het
Gm1966 T C 7: 106,602,537 D500G probably damaging Het
Gpr152 T A 19: 4,142,952 V164E probably damaging Het
Grik3 A C 4: 125,694,036 I650L possibly damaging Het
Gzmm A T 10: 79,695,062 T233S probably benign Het
H2-Q4 T A 17: 35,383,312 V341D probably benign Het
Igsf21 A G 4: 140,027,718 probably benign Het
Kmt2d T C 15: 98,860,657 probably benign Het
Kntc1 T G 5: 123,781,658 V864G probably damaging Het
Lnx1 T C 5: 74,620,155 E235G possibly damaging Het
Man2b1 G T 8: 85,097,430 K985N probably benign Het
Map4k1 C A 7: 29,001,619 P670Q probably damaging Het
Mapk8ip1 C A 2: 92,388,974 probably null Het
Mettl16 T A 11: 74,792,267 Y178* probably null Het
Mrpl11 T A 19: 4,963,421 probably null Het
Olfr1140 T C 2: 87,746,598 V134A probably benign Het
Olfr1301 T A 2: 111,755,005 V252E probably damaging Het
Olfr301 T C 7: 86,412,959 L199P possibly damaging Het
Olfr352 T C 2: 36,870,520 probably benign Het
Pcdhb2 T A 18: 37,295,322 L116* probably null Het
Pdcd7 C A 9: 65,346,703 R188S probably damaging Het
Pdk2 T C 11: 95,027,285 Y374C probably damaging Het
Ppp1r12a G T 10: 108,234,021 D224Y probably damaging Het
Ppp2r2d T A 7: 138,876,635 Y169N probably damaging Het
Prcp A C 7: 92,910,213 T162P probably benign Het
Prkd1 A G 12: 50,342,142 S873P probably benign Het
Ptpn2 T C 18: 67,681,553 T129A probably benign Het
Rtkn G A 6: 83,146,061 R68H probably damaging Het
Sall4 C T 2: 168,755,856 D355N probably damaging Het
Scn7a A G 2: 66,703,852 V493A probably benign Het
Sema4b G A 7: 80,215,696 A140T probably damaging Het
Shisa6 C A 11: 66,217,828 G408C possibly damaging Het
Slc7a9 G T 7: 35,454,164 V197F probably damaging Het
Spata2 A T 2: 167,484,151 D249E probably damaging Het
Stk36 T A 1: 74,633,638 V1013E probably benign Het
Tcp10a T C 17: 7,343,500 V336A probably damaging Het
Tfb2m A T 1: 179,537,844 V185D possibly damaging Het
Tgm7 T A 2: 121,106,915 Y76F probably benign Het
Tph1 T C 7: 46,653,753 Y267C probably damaging Het
Ube2d1 A G 10: 71,255,826 probably benign Het
Vmn2r12 C A 5: 109,091,850 R282S probably damaging Het
Vps4a A G 8: 107,036,924 D72G probably benign Het
Wipf2 T A 11: 98,890,803 V56D possibly damaging Het
Wisp3 A G 10: 39,158,310 Y99H probably damaging Het
Zfp750 C A 11: 121,512,165 V586L probably benign Het
Zfp831 A G 2: 174,644,606 E358G possibly damaging Het
Other mutations in Nup85
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00550:Nup85 APN 11 115581756 missense probably damaging 1.00
IGL01775:Nup85 APN 11 115580767 missense probably damaging 1.00
IGL02170:Nup85 APN 11 115577931 missense probably damaging 0.97
IGL02456:Nup85 APN 11 115581865 unclassified probably benign
IGL02888:Nup85 APN 11 115578800 missense possibly damaging 0.89
IGL03210:Nup85 APN 11 115566636 missense probably benign 0.11
PIT4403001:Nup85 UTSW 11 115581820 missense probably damaging 0.98
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 On2013-12-03