Incidental Mutation 'R4878:Nup107'
ID 375072
Institutional Source Beutler Lab
Gene Symbol Nup107
Ensembl Gene ENSMUSG00000052798
Gene Name nucleoporin 107
Synonyms
MMRRC Submission 042487-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.967) question?
Stock # R4878 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 117586526-117628607 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 117587323 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 859 (C859S)
Ref Sequence ENSEMBL: ENSMUSP00000063590 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064848] [ENSMUST00000167943] [ENSMUST00000218576]
AlphaFold Q8BH74
Predicted Effect probably benign
Transcript: ENSMUST00000064848
AA Change: C859S

PolyPhen 2 Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000063590
Gene: ENSMUSG00000052798
AA Change: C859S

DomainStartEndE-ValueType
Pfam:Nup84_Nup100 210 909 2.2e-218 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167943
AA Change: C857S

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000129546
Gene: ENSMUSG00000052798
AA Change: C857S

DomainStartEndE-ValueType
Pfam:Nup84_Nup100 206 909 2.4e-226 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000218576
Meta Mutation Damage Score 0.0984 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.8%
Validation Efficiency 96% (70/73)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the nucleoporin family. The protein is localized to the nuclear rim and is an essential component of the nuclear pore complex (NPC). All molecules entering or leaving the nucleus either diffuse through or are actively transported by the NPC. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a CRISPR-generated allele exhibit reduced female fertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 C A 4: 144,340,415 (GRCm39) H47N possibly damaging Het
Adgrg3 A T 8: 95,761,714 (GRCm39) N159I possibly damaging Het
Agrn A T 4: 156,255,302 (GRCm39) L1449Q probably damaging Het
Anks6 C T 4: 47,030,795 (GRCm39) G601S probably damaging Het
Atg2a A T 19: 6,300,274 (GRCm39) E694V probably damaging Het
Ccndbp1 T A 2: 120,845,172 (GRCm39) L363* probably null Het
Cdh16 A T 8: 105,344,696 (GRCm39) D478E probably damaging Het
Cep295 A T 9: 15,246,252 (GRCm39) W735R probably benign Het
Cnnm2 C T 19: 46,847,522 (GRCm39) P682S probably benign Het
Daam2 C A 17: 49,767,738 (GRCm39) R951L probably damaging Het
Dmxl1 T A 18: 49,984,543 (GRCm39) F180I probably damaging Het
Dnajc6 T C 4: 101,456,231 (GRCm39) probably benign Het
Efemp2 A T 19: 5,530,789 (GRCm39) probably benign Het
Emilin1 A G 5: 31,074,410 (GRCm39) D217G probably benign Het
Enpep A T 3: 129,070,420 (GRCm39) M829K probably benign Het
Epb41l4a A G 18: 33,931,625 (GRCm39) V623A probably damaging Het
Erlin2 T A 8: 27,517,194 (GRCm39) probably null Het
Fbln2 T C 6: 91,233,977 (GRCm39) probably null Het
Gga3 A T 11: 115,482,147 (GRCm39) I157N probably damaging Het
Gtpbp6 C T 5: 110,255,177 (GRCm39) probably benign Het
Hps4 T C 5: 112,523,234 (GRCm39) V584A probably benign Het
Ighv1-50 T C 12: 115,083,567 (GRCm39) Y51C probably benign Het
Kif13b T C 14: 65,043,603 (GRCm39) L1801P probably benign Het
Kif16b T C 2: 142,689,923 (GRCm39) I330V probably damaging Het
Klb A T 5: 65,505,833 (GRCm39) R27W probably damaging Het
Lrif1 A T 3: 106,642,956 (GRCm39) K169M probably damaging Het
Lrrc37 A G 11: 103,508,717 (GRCm39) probably benign Het
Met A G 6: 17,549,058 (GRCm39) D970G probably damaging Het
Mical3 A T 6: 120,946,348 (GRCm39) M1051K possibly damaging Het
Mios A G 6: 8,215,094 (GRCm39) N97D probably benign Het
Msh5 G A 17: 35,257,432 (GRCm39) R321C probably damaging Het
Mybpc1 T C 10: 88,387,292 (GRCm39) Q473R possibly damaging Het
Ncoa1 C T 12: 4,325,004 (GRCm39) G970D probably damaging Het
Neb T C 2: 52,109,406 (GRCm39) Y232C probably damaging Het
Nefh A G 11: 4,891,333 (GRCm39) S429P probably damaging Het
Notch3 C T 17: 32,366,059 (GRCm39) G1014D probably damaging Het
Or1d2 T C 11: 74,255,674 (GRCm39) Y60H probably damaging Het
Or2n1d T G 17: 38,646,518 (GRCm39) F157V probably benign Het
Or5m3b A G 2: 85,871,799 (GRCm39) I47V probably benign Het
Otud7b T A 3: 96,043,821 (GRCm39) probably benign Het
Pde1a A T 2: 79,708,483 (GRCm39) S312T probably benign Het
Piwil1 G T 5: 128,818,045 (GRCm39) R94L probably damaging Het
Pnma2 G A 14: 67,154,503 (GRCm39) W309* probably null Het
Ppef2 A C 5: 92,376,599 (GRCm39) probably null Het
Rabac1 T A 7: 24,669,392 (GRCm39) Q212L possibly damaging Het
Rad51 T C 2: 118,950,973 (GRCm39) probably benign Het
Rbm48 A T 5: 3,641,853 (GRCm39) probably benign Het
Rft1 C T 14: 30,399,761 (GRCm39) S315L probably benign Het
Rgs13 C T 1: 144,047,217 (GRCm39) M1I probably null Het
Rhbg A C 3: 88,154,760 (GRCm39) S215A probably benign Het
Rufy2 A T 10: 62,837,990 (GRCm39) N379I probably damaging Het
Slc17a1 T C 13: 24,064,637 (GRCm39) L367P probably damaging Het
Slc25a39 G A 11: 102,294,501 (GRCm39) R308C probably benign Het
Smo A G 6: 29,753,570 (GRCm39) T149A probably benign Het
Sqle A G 15: 59,187,934 (GRCm39) K81E probably benign Het
Tfpi A G 2: 84,282,899 (GRCm39) probably null Het
Tnk2 A G 16: 32,498,448 (GRCm39) D572G probably damaging Het
Ubr5 A T 15: 38,006,808 (GRCm39) M1149K probably benign Het
Utrn T A 10: 12,603,502 (GRCm39) Q626L probably damaging Het
Virma T A 4: 11,544,971 (GRCm39) H1643Q probably damaging Het
Wnt3 G T 11: 103,699,031 (GRCm39) G46C possibly damaging Het
Zkscan7 G T 9: 122,719,865 (GRCm39) G184* probably null Het
Other mutations in Nup107
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00590:Nup107 APN 10 117,599,708 (GRCm39) missense probably damaging 1.00
IGL00595:Nup107 APN 10 117,609,273 (GRCm39) critical splice acceptor site probably null
IGL00595:Nup107 APN 10 117,609,257 (GRCm39) nonsense probably null
IGL01120:Nup107 APN 10 117,606,146 (GRCm39) splice site probably benign
IGL01420:Nup107 APN 10 117,620,926 (GRCm39) missense probably damaging 1.00
IGL01646:Nup107 APN 10 117,617,247 (GRCm39) missense probably damaging 1.00
IGL01748:Nup107 APN 10 117,593,179 (GRCm39) missense probably benign 0.06
IGL01755:Nup107 APN 10 117,610,398 (GRCm39) missense probably damaging 1.00
IGL01982:Nup107 APN 10 117,595,245 (GRCm39) splice site probably benign
IGL03394:Nup107 APN 10 117,617,933 (GRCm39) missense probably damaging 0.96
R0371:Nup107 UTSW 10 117,599,674 (GRCm39) missense probably damaging 0.98
R1036:Nup107 UTSW 10 117,593,199 (GRCm39) missense probably damaging 0.98
R1186:Nup107 UTSW 10 117,613,051 (GRCm39) nonsense probably null
R1538:Nup107 UTSW 10 117,626,399 (GRCm39) missense probably damaging 0.96
R1555:Nup107 UTSW 10 117,587,395 (GRCm39) splice site probably benign
R1570:Nup107 UTSW 10 117,599,749 (GRCm39) missense possibly damaging 0.49
R1758:Nup107 UTSW 10 117,597,248 (GRCm39) missense probably damaging 1.00
R1856:Nup107 UTSW 10 117,586,811 (GRCm39) missense probably damaging 1.00
R2105:Nup107 UTSW 10 117,609,225 (GRCm39) missense probably damaging 1.00
R2127:Nup107 UTSW 10 117,610,380 (GRCm39) missense possibly damaging 0.69
R4480:Nup107 UTSW 10 117,597,237 (GRCm39) missense probably benign 0.00
R4540:Nup107 UTSW 10 117,597,925 (GRCm39) splice site probably null
R4584:Nup107 UTSW 10 117,602,273 (GRCm39) missense probably benign 0.05
R4887:Nup107 UTSW 10 117,606,383 (GRCm39) missense probably damaging 1.00
R4921:Nup107 UTSW 10 117,606,416 (GRCm39) missense possibly damaging 0.95
R5960:Nup107 UTSW 10 117,625,915 (GRCm39) missense probably null
R5986:Nup107 UTSW 10 117,595,081 (GRCm39) missense probably damaging 1.00
R6947:Nup107 UTSW 10 117,593,179 (GRCm39) missense probably benign 0.06
R7092:Nup107 UTSW 10 117,626,399 (GRCm39) missense probably damaging 0.96
R7165:Nup107 UTSW 10 117,609,267 (GRCm39) missense probably damaging 0.98
R7190:Nup107 UTSW 10 117,598,040 (GRCm39) missense probably benign
R7331:Nup107 UTSW 10 117,606,103 (GRCm39) missense probably damaging 0.99
R7405:Nup107 UTSW 10 117,606,320 (GRCm39) missense probably benign 0.02
R7596:Nup107 UTSW 10 117,613,065 (GRCm39) missense probably damaging 1.00
R7644:Nup107 UTSW 10 117,606,375 (GRCm39) missense probably damaging 1.00
R7734:Nup107 UTSW 10 117,593,917 (GRCm39) nonsense probably null
R7918:Nup107 UTSW 10 117,617,905 (GRCm39) missense probably benign 0.00
R7998:Nup107 UTSW 10 117,593,899 (GRCm39) missense probably damaging 1.00
R8060:Nup107 UTSW 10 117,599,674 (GRCm39) missense probably damaging 0.98
R8209:Nup107 UTSW 10 117,593,836 (GRCm39) missense probably benign 0.19
R8226:Nup107 UTSW 10 117,593,836 (GRCm39) missense probably benign 0.19
R8470:Nup107 UTSW 10 117,606,374 (GRCm39) missense probably damaging 1.00
R9358:Nup107 UTSW 10 117,586,868 (GRCm39) missense probably damaging 1.00
R9617:Nup107 UTSW 10 117,593,238 (GRCm39) missense probably benign
R9668:Nup107 UTSW 10 117,610,383 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- ATGCTCCTATGTGCAGACAATTTTG -3'
(R):5'- TCCCTGAGTGCTGCGATTTG -3'

Sequencing Primer
(F):5'- TTTGAAAGACAGTACACTGAAGCTG -3'
(R):5'- CTGCGATTTGGGGTGGCAG -3'
Posted On 2016-03-17