Incidental Mutation 'R0737:Nup88'
ID 70527
Institutional Source Beutler Lab
Gene Symbol Nup88
Ensembl Gene ENSMUSG00000040667
Gene Name nucleoporin 88
Synonyms Nup84, Prei2
MMRRC Submission 038918-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.968) question?
Stock # R0737 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 70833884-70860799 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to G at 70860776 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 1 (M1T)
Ref Sequence ENSEMBL: ENSMUSP00000104171 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018593] [ENSMUST00000035283] [ENSMUST00000108529] [ENSMUST00000108530] [ENSMUST00000108531] [ENSMUST00000169965] [ENSMUST00000154430] [ENSMUST00000171254] [ENSMUST00000167509] [ENSMUST00000178822]
AlphaFold Q8CEC0
Predicted Effect probably benign
Transcript: ENSMUST00000018593
SMART Domains Protein: ENSMUSP00000018593
Gene: ENSMUSG00000018449

DomainStartEndE-ValueType
Pfam:RPA_interact_N 8 47 1.7e-21 PFAM
Pfam:RPA_interact_M 59 127 1.1e-14 PFAM
Pfam:RPA_interact_C 136 217 2.8e-21 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000035283
AA Change: M1T

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000048101
Gene: ENSMUSG00000040667
AA Change: M1T

DomainStartEndE-ValueType
Pfam:Nup88 13 752 1.1e-306 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108529
SMART Domains Protein: ENSMUSP00000104169
Gene: ENSMUSG00000018449

DomainStartEndE-ValueType
Pfam:RPA_interact_N 7 48 7.6e-24 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000108530
AA Change: M1T

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000104170
Gene: ENSMUSG00000040667
AA Change: M1T

DomainStartEndE-ValueType
Pfam:Nup88 11 742 N/A PFAM
Predicted Effect probably null
Transcript: ENSMUST00000108531
AA Change: M1T

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000104171
Gene: ENSMUSG00000040667
AA Change: M1T

DomainStartEndE-ValueType
Pfam:Nup88 11 747 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126815
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148168
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129540
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136665
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146788
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151608
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138634
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129531
Predicted Effect probably benign
Transcript: ENSMUST00000178253
Predicted Effect probably benign
Transcript: ENSMUST00000169965
SMART Domains Protein: ENSMUSP00000128903
Gene: ENSMUSG00000018449

DomainStartEndE-ValueType
Pfam:RPA_interact_N 7 48 1e-23 PFAM
Pfam:RPA_interact_M 58 106 6e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000154430
SMART Domains Protein: ENSMUSP00000137113
Gene: ENSMUSG00000018449

DomainStartEndE-ValueType
Pfam:RPA_interact_N 7 38 1.7e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171254
SMART Domains Protein: ENSMUSP00000133243
Gene: ENSMUSG00000018449

DomainStartEndE-ValueType
Pfam:RPA_interact_N 7 48 1.1e-23 PFAM
Pfam:RPA_interact_M 58 107 3.1e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167509
SMART Domains Protein: ENSMUSP00000127315
Gene: ENSMUSG00000018449

DomainStartEndE-ValueType
Pfam:RPA_interact_N 7 48 2.7e-23 PFAM
Pfam:RPA_interact_M 58 128 5.1e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000178822
SMART Domains Protein: ENSMUSP00000136592
Gene: ENSMUSG00000018449

DomainStartEndE-ValueType
Pfam:RPA_interact_N 7 48 2.7e-23 PFAM
Pfam:RPA_interact_M 58 128 5.3e-16 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 94.8%
Validation Efficiency
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930567H17Rik T A X: 69,437,813 (GRCm39) probably benign Het
Aff4 T A 11: 53,301,780 (GRCm39) L1043* probably null Het
Ankrd11 G T 8: 123,622,575 (GRCm39) R426S probably damaging Het
Atm T A 9: 53,367,866 (GRCm39) N2422I probably damaging Het
Bahcc1 C A 11: 120,163,667 (GRCm39) P655Q probably damaging Het
Baz2a A G 10: 127,951,949 (GRCm39) I556V possibly damaging Het
Ccdc33 T C 9: 57,989,331 (GRCm39) D114G probably damaging Het
Cdk5rap2 T C 4: 70,255,612 (GRCm39) H424R probably benign Het
Cfap57 T C 4: 118,438,299 (GRCm39) E864G possibly damaging Het
Cit T A 5: 116,084,978 (GRCm39) S836R probably damaging Het
Clip4 C T 17: 72,144,694 (GRCm39) Q95* probably null Het
Col17a1 C T 19: 47,657,872 (GRCm39) G433S possibly damaging Het
Col6a3 A G 1: 90,756,020 (GRCm39) F90L probably damaging Het
Cybc1 C T 11: 121,118,068 (GRCm39) probably null Het
Degs1l G A 1: 180,882,944 (GRCm39) M235I probably benign Het
Dnah9 T C 11: 65,998,724 (GRCm39) H1108R probably damaging Het
Elac1 A T 18: 73,872,110 (GRCm39) M295K probably damaging Het
Epas1 G T 17: 87,136,884 (GRCm39) G816C possibly damaging Het
Ermap C A 4: 119,035,707 (GRCm39) C427F probably damaging Het
Fbxo44 T C 4: 148,243,266 (GRCm39) probably benign Het
Fmo4 T A 1: 162,635,961 (GRCm39) K14* probably null Het
Gadl1 G A 9: 115,903,055 (GRCm39) M461I probably damaging Het
Garnl3 T A 2: 32,880,654 (GRCm39) I868F probably damaging Het
Gm7168 A G 17: 14,169,245 (GRCm39) D204G probably damaging Het
Hs6st3 T C 14: 120,106,795 (GRCm39) F401S possibly damaging Het
Kcnmb1 A T 11: 33,914,701 (GRCm39) M1L probably benign Het
Krt35 T C 11: 99,984,620 (GRCm39) T292A probably benign Het
Krt81 C A 15: 101,361,508 (GRCm39) R24L possibly damaging Het
Lamb2 T A 9: 108,360,993 (GRCm39) W572R probably benign Het
Letmd1 A G 15: 100,367,702 (GRCm39) T87A probably damaging Het
Lrp2 A G 2: 69,278,513 (GRCm39) Y3947H probably damaging Het
Mocos T C 18: 24,822,044 (GRCm39) F685L probably damaging Het
Nsun6 A T 2: 15,001,285 (GRCm39) F424I probably damaging Het
Or13p5 C T 4: 118,592,421 (GRCm39) R232C probably benign Het
Or14c45 C T 7: 86,176,195 (GRCm39) P77S probably damaging Het
Or4c29 T C 2: 88,740,617 (GRCm39) N40S probably damaging Het
Pcdhb12 T A 18: 37,570,762 (GRCm39) V636D probably damaging Het
Pclo C A 5: 14,565,453 (GRCm39) A73E probably damaging Het
Pdlim7 A T 13: 55,652,693 (GRCm39) probably null Het
Phldb1 G A 9: 44,610,933 (GRCm39) P67S possibly damaging Het
Ppp2r2b T C 18: 43,192,257 (GRCm39) T17A probably benign Het
Ppp4r3c2 A G X: 88,797,926 (GRCm39) H586R probably benign Het
Rab11fip4 T C 11: 79,574,328 (GRCm39) V241A probably benign Het
Slc41a1 T C 1: 131,768,690 (GRCm39) L216P probably damaging Het
Slco1a8 G T 6: 141,949,154 (GRCm39) A74E possibly damaging Het
Smg6 T A 11: 75,050,662 (GRCm39) D1352E probably damaging Het
Tbc1d9 A T 8: 83,985,942 (GRCm39) I816F probably damaging Het
Tex264 T C 9: 106,536,498 (GRCm39) T220A probably benign Het
Tmco6 G A 18: 36,874,829 (GRCm39) V439I probably damaging Het
Tmem64 A G 4: 15,266,717 (GRCm39) I256V probably damaging Het
Tnks1bp1 A G 2: 84,882,880 (GRCm39) S236G possibly damaging Het
Tsc1 A G 2: 28,560,942 (GRCm39) T267A possibly damaging Het
Txndc2 A G 17: 65,946,548 (GRCm39) probably null Het
Vmn2r94 G A 17: 18,497,695 (GRCm39) Q26* probably null Het
Zan T C 5: 137,387,511 (GRCm39) D4900G unknown Het
Zkscan3 T C 13: 21,572,766 (GRCm39) T122A probably benign 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
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
R6364:Nup88 UTSW 11 70,838,612 (GRCm39) missense probably benign
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'- GCTGATTGCTTTCACGATGGACCG -3'
(R):5'- ACCCAGAGGAAGTTGTCCAGTAGAC -3'

Sequencing Primer
(F):5'- AAGACCAGGTTTCTCGTCG -3'
(R):5'- TACACTccactccgcccc -3'
Posted On 2013-09-30