Incidental Mutation 'R6364:Nup88'
ID 513429
Institutional Source Beutler Lab
Gene Symbol Nup88
Ensembl Gene ENSMUSG00000040667
Gene Name nucleoporin 88
Synonyms Nup84, Prei2
MMRRC Submission 044514-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.968) question?
Stock # R6364 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 70833884-70860799 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 70838612 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 468 (R468Q)
Ref Sequence ENSEMBL: ENSMUSP00000104171 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035283] [ENSMUST00000076270] [ENSMUST00000108530] [ENSMUST00000108531]
AlphaFold Q8CEC0
Predicted Effect probably benign
Transcript: ENSMUST00000035283
AA Change: R468Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000048101
Gene: ENSMUSG00000040667
AA Change: R468Q

DomainStartEndE-ValueType
Pfam:Nup88 13 752 1.1e-306 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000076270
SMART Domains Protein: ENSMUSP00000075619
Gene: ENSMUSG00000020817

DomainStartEndE-ValueType
Pfam:Rabaptin 89 195 8.8e-47 PFAM
low complexity region 314 327 N/A INTRINSIC
Pfam:Rabaptin 461 596 7.6e-39 PFAM
Pfam:Rab5-bind 612 807 5.7e-51 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108530
AA Change: R468Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000104170
Gene: ENSMUSG00000040667
AA Change: R468Q

DomainStartEndE-ValueType
Pfam:Nup88 11 742 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108531
AA Change: R468Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000104171
Gene: ENSMUSG00000040667
AA Change: R468Q

DomainStartEndE-ValueType
Pfam:Nup88 11 747 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123192
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123917
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133188
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141179
Predicted Effect probably benign
Transcript: ENSMUST00000178253
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138634
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129615
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148168
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128193
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.8%
Validation Efficiency 99% (69/70)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins, a family of 50 to 100 proteins, are the main components of the nuclear pore complex in eukaryotic cells. The protein encoded by this gene belongs to the nucleoporin family and is associated with the oncogenic nucleoporin CAN/Nup214 in a dynamic subcomplex. This protein is also overexpressed in a large number of malignant neoplasms and precancerous dysplasias. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts3 T C 5: 89,869,673 (GRCm39) Y234C possibly damaging Het
Ambra1 C A 2: 91,603,661 (GRCm39) H548Q possibly damaging Het
Ap3d1 T C 10: 80,546,328 (GRCm39) probably null Het
Apol11b A G 15: 77,522,258 (GRCm39) V13A possibly damaging Het
Arhgdib C T 6: 136,909,253 (GRCm39) probably null Het
B3galt1 T A 2: 67,949,016 (GRCm39) S244T probably damaging Het
Bace2 A G 16: 97,214,633 (GRCm39) I274V probably benign Het
Bfsp2 A T 9: 103,325,827 (GRCm39) V272D probably damaging Het
Blm A T 7: 80,144,274 (GRCm39) C782* probably null Het
Cfi G A 3: 129,666,495 (GRCm39) S406N probably benign Het
Chd1l G A 3: 97,494,483 (GRCm39) A399V probably damaging Het
Cic C A 7: 24,972,248 (GRCm39) H660N possibly damaging Het
Cops3 A G 11: 59,726,230 (GRCm39) probably benign Het
Dlec1 G A 9: 118,950,939 (GRCm39) V502I possibly damaging Het
Dync2i1 A T 12: 116,205,352 (GRCm39) D412E probably damaging Het
Epop A G 11: 97,519,513 (GRCm39) S199P probably benign Het
Evi5 G T 5: 107,989,979 (GRCm39) P80Q probably damaging Het
Faf1 T C 4: 109,818,997 (GRCm39) V623A possibly damaging Het
Fam83c T C 2: 155,676,443 (GRCm39) D109G probably damaging Het
Fam83d T C 2: 158,625,179 (GRCm39) probably null Het
Flacc1 G T 1: 58,697,531 (GRCm39) A403D probably damaging Het
Foxn3 T C 12: 99,354,952 (GRCm39) N71D probably benign Het
Gm7298 A G 6: 121,756,402 (GRCm39) R1016G possibly damaging Het
Grin2d T C 7: 45,507,878 (GRCm39) E396G possibly damaging Het
Htra2 C A 6: 83,030,027 (GRCm39) V311F probably damaging Het
Kif6 A T 17: 49,927,651 (GRCm39) T33S probably benign Het
Kmt2c T C 5: 25,514,634 (GRCm39) I3070V probably null Het
Krtap5-2 A T 7: 141,728,800 (GRCm39) C293* probably null Het
Lrp3 T A 7: 34,903,134 (GRCm39) D404V probably benign Het
LTO1 A G 7: 144,473,005 (GRCm39) D105G probably benign Het
Mc2r T G 18: 68,540,607 (GRCm39) I229L probably benign Het
Mtnr1b A G 9: 15,774,300 (GRCm39) M253T possibly damaging Het
Nfat5 A G 8: 108,094,909 (GRCm39) N531S probably benign Het
Niban3 G A 8: 72,051,733 (GRCm39) G23S probably benign Het
Npr2 T A 4: 43,643,622 (GRCm39) I550N probably damaging Het
Npy6r T C 18: 44,409,578 (GRCm39) I333T possibly damaging Het
Nup98 G A 7: 101,825,522 (GRCm39) T422I probably damaging Het
Or10aa1 T A 1: 173,869,778 (GRCm39) H87Q possibly damaging Het
Otud4 A G 8: 80,372,970 (GRCm39) N96S probably damaging Het
Paqr6 T C 3: 88,273,265 (GRCm39) F86L probably damaging Het
Ppp4r3b A T 11: 29,138,035 (GRCm39) T90S probably benign Het
Ptbp2 A T 3: 119,534,091 (GRCm39) N23K probably damaging Het
Ralgapb G T 2: 158,304,029 (GRCm39) G596V probably damaging Het
Rdm1 G A 11: 101,521,068 (GRCm39) R94H probably benign Het
Rergl A T 6: 139,477,746 (GRCm39) F28I probably damaging Het
Rif1 G T 2: 51,997,681 (GRCm39) S1000I probably damaging Het
Rnf141 C T 7: 110,420,516 (GRCm39) A163T possibly damaging Het
Scaf4 G A 16: 90,057,136 (GRCm39) Q72* probably null Het
Sdk1 G T 5: 141,948,464 (GRCm39) S603I probably benign Het
Sdsl T C 5: 120,598,674 (GRCm39) I147M probably damaging Het
Serpina6 T C 12: 103,620,495 (GRCm39) N85D probably benign Het
Serpinf2 A G 11: 75,327,315 (GRCm39) I204T probably damaging Het
Shank2 A G 7: 143,964,146 (GRCm39) S795G probably benign Het
Simc1 C T 13: 54,672,413 (GRCm39) Q254* probably null Het
Slc30a3 G A 5: 31,246,083 (GRCm39) P216S possibly damaging Het
Smim14 T A 5: 65,610,639 (GRCm39) I53F probably benign Het
Sp3 T C 2: 72,801,285 (GRCm39) T243A probably benign Het
Srpk2 A G 5: 23,745,465 (GRCm39) F164L probably damaging Het
Stard9 T C 2: 120,543,910 (GRCm39) F4403L probably damaging Het
Tbc1d30 T C 10: 121,130,630 (GRCm39) T267A possibly damaging Het
Tgm7 T A 2: 120,926,878 (GRCm39) R424* probably null Het
Tmbim6 T C 15: 99,304,066 (GRCm39) L113P probably damaging Het
Tmcc1 G A 6: 116,020,722 (GRCm39) probably benign Het
Tomm7 A G 5: 24,049,028 (GRCm39) L15P probably damaging Het
Tpcn1 T C 5: 120,691,875 (GRCm39) Y263C probably damaging Het
Trim34b T C 7: 103,985,733 (GRCm39) F456S probably damaging Het
Uox C T 3: 146,330,332 (GRCm39) R163* probably null Het
Vmn2r108 A G 17: 20,691,260 (GRCm39) I421T probably benign Het
Wdr43 A G 17: 71,964,649 (GRCm39) E676G probably damaging Het
Zcchc14 G T 8: 122,331,598 (GRCm39) probably benign Het
Zfp64 C A 2: 168,754,186 (GRCm39) G25V probably damaging Het
Zswim8 C A 14: 20,763,079 (GRCm39) P326H probably damaging Het
Other mutations in Nup88
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02081:Nup88 APN 11 70,845,480 (GRCm39) splice site probably benign
IGL02219:Nup88 APN 11 70,860,518 (GRCm39) missense probably benign 0.45
IGL02433:Nup88 APN 11 70,860,714 (GRCm39) missense probably benign 0.13
IGL02666:Nup88 APN 11 70,834,695 (GRCm39) intron probably benign
IGL02669:Nup88 APN 11 70,847,110 (GRCm39) missense probably damaging 0.99
IGL02951:Nup88 APN 11 70,835,698 (GRCm39) missense possibly damaging 0.94
unholy UTSW 11 70,847,018 (GRCm39) missense probably damaging 1.00
PIT4515001:Nup88 UTSW 11 70,835,547 (GRCm39) missense probably benign 0.00
R0445:Nup88 UTSW 11 70,838,555 (GRCm39) missense probably benign 0.44
R0737:Nup88 UTSW 11 70,860,776 (GRCm39) start codon destroyed probably null 0.90
R0920:Nup88 UTSW 11 70,847,146 (GRCm39) missense possibly damaging 0.80
R1337:Nup88 UTSW 11 70,835,716 (GRCm39) missense probably damaging 1.00
R2208:Nup88 UTSW 11 70,856,545 (GRCm39) missense probably damaging 1.00
R3735:Nup88 UTSW 11 70,847,018 (GRCm39) missense probably damaging 1.00
R4577:Nup88 UTSW 11 70,860,543 (GRCm39) missense probably damaging 0.96
R4600:Nup88 UTSW 11 70,860,522 (GRCm39) nonsense probably null
R4663:Nup88 UTSW 11 70,856,672 (GRCm39) splice site probably null
R4812:Nup88 UTSW 11 70,856,552 (GRCm39) missense probably damaging 1.00
R4824:Nup88 UTSW 11 70,852,450 (GRCm39) missense probably benign 0.10
R5333:Nup88 UTSW 11 70,835,842 (GRCm39) intron probably benign
R5338:Nup88 UTSW 11 70,835,734 (GRCm39) missense probably damaging 0.98
R5443:Nup88 UTSW 11 70,849,256 (GRCm39) nonsense probably null
R5605:Nup88 UTSW 11 70,834,896 (GRCm39) intron probably benign
R5869:Nup88 UTSW 11 70,860,497 (GRCm39) missense probably benign
R6287:Nup88 UTSW 11 70,856,581 (GRCm39) missense probably benign 0.39
R6409:Nup88 UTSW 11 70,835,798 (GRCm39) missense probably null 0.71
R6555:Nup88 UTSW 11 70,835,006 (GRCm39) missense possibly damaging 0.62
R7203:Nup88 UTSW 11 70,836,080 (GRCm39) missense probably benign 0.20
R7606:Nup88 UTSW 11 70,852,441 (GRCm39) missense possibly damaging 0.89
R7620:Nup88 UTSW 11 70,860,605 (GRCm39) missense probably benign 0.00
R7681:Nup88 UTSW 11 70,860,711 (GRCm39) missense probably benign 0.05
R8283:Nup88 UTSW 11 70,849,166 (GRCm39) missense probably benign
R8379:Nup88 UTSW 11 70,860,607 (GRCm39) missense possibly damaging 0.72
R8684:Nup88 UTSW 11 70,860,687 (GRCm39) missense probably benign
R8806:Nup88 UTSW 11 70,834,941 (GRCm39) missense probably benign 0.01
R9368:Nup88 UTSW 11 70,858,756 (GRCm39) missense probably damaging 0.99
R9748:Nup88 UTSW 11 70,860,497 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AGCCTCAAACTAGTTACTAAGGGC -3'
(R):5'- AGGCTCACTGAGATAGATGGGC -3'

Sequencing Primer
(F):5'- AGTTACTAAGGGCATTCTCTCCAG -3'
(R):5'- CTCACTGAGATAGATGGGCCTTAG -3'
Posted On 2018-04-27