Incidental Mutation 'IGL03288:Nup153'
ID415784
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nup153
Ensembl Gene ENSMUSG00000021374
Gene Namenucleoporin 153
SynonymsB130015D15Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.934) question?
Stock #IGL03288
Quality Score
Status
Chromosome13
Chromosomal Location46679905-46727940 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 46705205 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 410 (E410G)
Ref Sequence ENSEMBL: ENSMUSP00000021803 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021803]
Predicted Effect possibly damaging
Transcript: ENSMUST00000021803
AA Change: E410G

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000021803
Gene: ENSMUSG00000021374
AA Change: E410G

DomainStartEndE-ValueType
low complexity region 6 15 N/A INTRINSIC
Pfam:Nup153 114 627 6e-236 PFAM
ZnF_RBZ 656 680 6.56e-6 SMART
ZnF_RBZ 719 743 5.89e-8 SMART
low complexity region 756 775 N/A INTRINSIC
ZnF_RBZ 787 811 7.2e-3 SMART
low complexity region 815 830 N/A INTRINSIC
ZnF_RBZ 844 868 1.64e-6 SMART
low complexity region 898 911 N/A INTRINSIC
low complexity region 1078 1085 N/A INTRINSIC
low complexity region 1183 1207 N/A INTRINSIC
low complexity region 1248 1260 N/A INTRINSIC
low complexity region 1271 1296 N/A INTRINSIC
Pfam:Nup_retrotrp_bd 1372 1462 4.4e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182358
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183299
Predicted Effect probably benign
Transcript: ENSMUST00000224062
Predicted Effect unknown
Transcript: ENSMUST00000225894
AA Change: E27G
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Nuclear pore complexes regulate the transport of macromolecules between the nucleus and cytoplasm. They are composed of at least 100 different polypeptide subunits, many of which belong to the nucleoporin family. Nucleoporins are glycoproteins found in nuclear pores and contain characteristic pentapeptide XFXFG repeats as well as O-linked N-acetylglucosamine residues oriented towards the cytoplasm. The protein encoded by this gene has three distinct domains: a N-terminal region containing a pore targeting and an RNA-binding domain domain, a central region containing multiple zinc finger motifs, and a C-terminal region containing multiple XFXFG repeats. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arap2 T C 5: 62,604,616 K1589R probably benign Het
Armc3 T C 2: 19,235,482 F17L probably damaging Het
Ccdc17 T A 4: 116,599,429 L465H probably damaging Het
Cdh9 A T 15: 16,856,049 D725V probably damaging Het
Chl1 C T 6: 103,675,097 R309C probably damaging Het
Col4a3bp T A 13: 96,634,192 D536E probably benign Het
Dbt T A 3: 116,548,198 *483K probably null Het
Ddx46 A G 13: 55,638,094 D29G unknown Het
Des T C 1: 75,362,341 I222T possibly damaging Het
Dnah8 A G 17: 30,672,349 N776S probably benign Het
Fbn1 A T 2: 125,303,183 L2712Q probably benign Het
Glb1l3 A C 9: 26,818,305 V622G probably damaging Het
Gm5415 T A 1: 32,545,760 E356D probably benign Het
Grin2a T C 16: 9,669,840 D398G possibly damaging Het
Itgb3 T C 11: 104,633,467 M143T probably damaging Het
Lama2 G A 10: 27,369,051 R245C probably damaging Het
Lgals9 G A 11: 78,984,800 A6V probably benign Het
Lman2l A T 1: 36,443,547 Y83N probably damaging Het
Lrp2 T A 2: 69,426,039 T4586S probably benign Het
Med10 T C 13: 69,815,697 probably benign Het
Myo18b A C 5: 112,789,997 L1754R probably damaging Het
Myom2 T C 8: 15,122,679 L1202S probably damaging Het
Nav3 T C 10: 109,759,017 E1441G probably damaging Het
Nme8 T C 13: 19,696,606 E60G possibly damaging Het
Npffr2 G T 5: 89,583,161 A317S probably damaging Het
Nrxn2 A G 19: 6,490,696 D893G probably damaging Het
Olfr18 A G 9: 20,335,911 probably null Het
Olfr746 T C 14: 50,653,375 I46T possibly damaging Het
Pcdhb10 A G 18: 37,413,305 D478G probably damaging Het
Phf13 T C 4: 151,992,369 D122G possibly damaging Het
Pkhd1 A T 1: 20,201,019 H3103Q probably benign Het
Prr11 A C 11: 87,096,961 probably null Het
Rac3 C T 11: 120,723,266 T118M possibly damaging Het
Rad54b T C 4: 11,569,833 S50P possibly damaging Het
Rp1 T C 1: 4,349,524 Q455R possibly damaging Het
Sorl1 T C 9: 42,033,562 probably benign Het
Spink5 A T 18: 44,014,760 I858F possibly damaging Het
Stxbp5 A T 10: 9,866,703 probably null Het
Svep1 A C 4: 58,116,532 V906G probably benign Het
Tlr4 A G 4: 66,839,753 E261G probably damaging Het
Zfp704 C T 3: 9,439,891 probably benign Het
Zfyve9 A T 4: 108,723,799 probably benign Het
Other mutations in Nup153
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00657:Nup153 APN 13 46681150 unclassified probably benign
IGL01312:Nup153 APN 13 46686824 missense probably benign 0.03
IGL01459:Nup153 APN 13 46712926 missense possibly damaging 0.84
IGL01646:Nup153 APN 13 46684107 missense possibly damaging 0.80
IGL03064:Nup153 APN 13 46693839 missense probably benign
IGL03369:Nup153 APN 13 46700983 splice site probably null
IGL03371:Nup153 APN 13 46683152 missense probably benign 0.34
R0193:Nup153 UTSW 13 46709654 missense probably benign 0.01
R0244:Nup153 UTSW 13 46693936 missense probably benign 0.03
R0448:Nup153 UTSW 13 46717181 missense probably benign 0.00
R0943:Nup153 UTSW 13 46696772 splice site probably benign
R1219:Nup153 UTSW 13 46687219 missense probably benign 0.01
R1381:Nup153 UTSW 13 46689181 missense probably damaging 1.00
R1709:Nup153 UTSW 13 46693974 missense probably damaging 1.00
R1727:Nup153 UTSW 13 46693785 missense probably damaging 1.00
R1818:Nup153 UTSW 13 46681637 missense possibly damaging 0.94
R1824:Nup153 UTSW 13 46713747 missense probably damaging 1.00
R1928:Nup153 UTSW 13 46701026 missense probably damaging 0.98
R2108:Nup153 UTSW 13 46693510 critical splice donor site probably null
R2110:Nup153 UTSW 13 46683928 missense probably benign 0.00
R2111:Nup153 UTSW 13 46683928 missense probably benign 0.00
R2173:Nup153 UTSW 13 46701600 splice site probably benign
R2231:Nup153 UTSW 13 46709627 critical splice donor site probably null
R3879:Nup153 UTSW 13 46683960 missense probably damaging 1.00
R4634:Nup153 UTSW 13 46687230 missense possibly damaging 0.49
R4662:Nup153 UTSW 13 46687274 missense possibly damaging 0.68
R4932:Nup153 UTSW 13 46712737 nonsense probably null
R5011:Nup153 UTSW 13 46687403 missense possibly damaging 0.62
R5023:Nup153 UTSW 13 46681109 unclassified probably benign
R5069:Nup153 UTSW 13 46709792 missense probably benign 0.05
R5137:Nup153 UTSW 13 46684153 missense probably damaging 0.99
R5323:Nup153 UTSW 13 46717206 missense probably benign 0.19
R5345:Nup153 UTSW 13 46686865 nonsense probably null
R5536:Nup153 UTSW 13 46683009 missense probably benign 0.01
R5613:Nup153 UTSW 13 46687271 missense possibly damaging 0.64
R5620:Nup153 UTSW 13 46684006 nonsense probably null
R5764:Nup153 UTSW 13 46687327 missense probably damaging 0.97
R5849:Nup153 UTSW 13 46686976 missense probably damaging 0.99
R6454:Nup153 UTSW 13 46709660 unclassified probably null
R6701:Nup153 UTSW 13 46687065 missense probably benign 0.00
R6721:Nup153 UTSW 13 46701026 missense probably damaging 0.98
R6737:Nup153 UTSW 13 46689206 missense probably benign 0.08
R6789:Nup153 UTSW 13 46717316 missense probably damaging 1.00
R6820:Nup153 UTSW 13 46709983 missense probably benign 0.09
R6837:Nup153 UTSW 13 46694051 missense probably damaging 1.00
R6913:Nup153 UTSW 13 46699716 missense probably damaging 1.00
R7052:Nup153 UTSW 13 46687473 missense probably benign 0.09
R7091:Nup153 UTSW 13 46683928 missense probably benign
R7357:Nup153 UTSW 13 46717166 missense probably benign 0.32
R7389:Nup153 UTSW 13 46700987 critical splice donor site probably null
R7423:Nup153 UTSW 13 46696644 critical splice donor site probably null
R7453:Nup153 UTSW 13 46681181 missense probably damaging 1.00
R7611:Nup153 UTSW 13 46687322 missense probably benign 0.01
Posted On2016-08-02