Incidental Mutation 'R1186:Nup107'
ID 102152
Institutional Source Beutler Lab
Gene Symbol Nup107
Ensembl Gene ENSMUSG00000052798
Gene Name nucleoporin 107
Synonyms
MMRRC Submission 039258-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.967) question?
Stock # R1186 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 117586526-117628607 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to C at 117613051 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 292 (Y292*)
Ref Sequence ENSEMBL: ENSMUSP00000151757 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064848] [ENSMUST00000167943] [ENSMUST00000218576]
AlphaFold Q8BH74
Predicted Effect probably null
Transcript: ENSMUST00000064848
AA Change: Y292*
SMART Domains Protein: ENSMUSP00000063590
Gene: ENSMUSG00000052798
AA Change: Y292*

DomainStartEndE-ValueType
Pfam:Nup84_Nup100 210 909 2.2e-218 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000167943
AA Change: Y290*
SMART Domains Protein: ENSMUSP00000129546
Gene: ENSMUSG00000052798
AA Change: Y290*

DomainStartEndE-ValueType
Pfam:Nup84_Nup100 206 909 2.4e-226 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000218576
AA Change: Y292*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218777
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218810
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220203
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220323
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.5%
  • 10x: 95.7%
  • 20x: 90.1%
Validation Efficiency 97% (69/71)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020N01Rik G A 10: 21,497,551 (GRCm39) R64Q probably benign Het
9530068E07Rik G A 11: 52,293,905 (GRCm39) V49I probably benign Het
A2m T C 6: 121,638,493 (GRCm39) S902P probably benign Het
Aatf A T 11: 84,361,375 (GRCm39) probably benign Het
Adamtsl1 A G 4: 86,306,746 (GRCm39) T1395A probably benign Het
Alpk2 T C 18: 65,427,412 (GRCm39) probably null Het
Ank3 G T 10: 69,703,290 (GRCm39) A308S probably damaging Het
Arap1 A G 7: 101,053,476 (GRCm39) probably benign Het
Bltp1 T C 3: 37,050,461 (GRCm39) probably benign Het
C4b T C 17: 34,955,283 (GRCm39) D769G possibly damaging Het
Cep350 A G 1: 155,751,122 (GRCm39) S2017P probably damaging Het
Cfap54 T A 10: 92,711,856 (GRCm39) I2704F unknown Het
Crip2 G A 12: 113,108,579 (GRCm39) probably benign Het
Cyp4f14 T C 17: 33,135,760 (GRCm39) I34V probably benign Het
Dcstamp A G 15: 39,618,025 (GRCm39) probably null Het
Ddx5 T C 11: 106,674,805 (GRCm39) probably null Het
Dnah2 A T 11: 69,406,526 (GRCm39) L572Q probably damaging Het
Espl1 G A 15: 102,212,474 (GRCm39) A527T probably benign Het
Fam83d A G 2: 158,627,094 (GRCm39) D261G probably damaging Het
Fbxo34 T C 14: 47,768,043 (GRCm39) F468L probably damaging Het
Gabarapl1 A T 6: 129,510,368 (GRCm39) probably benign Het
Galnt17 G T 5: 131,140,580 (GRCm39) T179K probably damaging Het
Gm6899 C T 11: 26,543,685 (GRCm39) probably benign Het
Helz2 T A 2: 180,872,921 (GRCm39) R2433W probably damaging Het
Hivep3 T C 4: 119,671,920 (GRCm39) probably benign Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Ica1 A G 6: 8,672,326 (GRCm39) L225P probably damaging Het
Inpp5f T C 7: 128,296,307 (GRCm39) I195T probably benign Het
Isyna1 C A 8: 71,047,851 (GRCm39) N115K probably benign Het
Ly6g6e T C 17: 35,296,984 (GRCm39) F75S probably benign Het
Ly96 A G 1: 16,771,118 (GRCm39) D101G possibly damaging Het
Mapk9 A G 11: 49,769,096 (GRCm39) T243A probably damaging Het
Mcc A G 18: 44,892,470 (GRCm39) V48A probably benign Het
Mcpt2 C T 14: 56,281,402 (GRCm39) probably benign Het
Med24 T C 11: 98,608,583 (GRCm39) probably benign Het
Mtbp G A 15: 55,428,067 (GRCm39) G162S probably null Het
Mtfr2 G A 10: 20,228,598 (GRCm39) C48Y probably benign Het
Naip2 AGGG AGG 13: 100,298,545 (GRCm39) probably null Het
Naip2 C T 13: 100,298,489 (GRCm39) A516T possibly damaging Het
Ncoa4-ps A C 12: 119,225,206 (GRCm39) noncoding transcript Het
Nwd2 C T 5: 63,807,367 (GRCm39) probably benign Het
Nxpe4 A C 9: 48,304,692 (GRCm39) N260H probably benign Het
Ofcc1 C T 13: 40,362,305 (GRCm39) G206R probably benign Het
Or6z7 T C 7: 6,483,541 (GRCm39) I205V probably benign Het
Or8b42 T C 9: 38,342,397 (GRCm39) V273A possibly damaging Het
Or8b47 T C 9: 38,435,453 (GRCm39) S142P probably damaging Het
Or8k37 A T 2: 86,469,807 (GRCm39) L82M probably damaging Het
P2rx7 T C 5: 122,808,514 (GRCm39) Y299H probably damaging Het
Per3 T A 4: 151,110,595 (GRCm39) E401V probably damaging Het
Rbm34 C A 8: 127,692,197 (GRCm39) E182* probably null Het
Sdk2 C T 11: 113,729,472 (GRCm39) silent Het
Senp2 T C 16: 21,830,254 (GRCm39) S38P probably damaging Het
Slc36a2 A T 11: 55,055,057 (GRCm39) probably null Het
Spred1 A T 2: 117,008,178 (GRCm39) R361S possibly damaging Het
Spry2 A G 14: 106,130,341 (GRCm39) C282R probably damaging Het
Srp54b T C 12: 55,302,313 (GRCm39) probably benign Het
Taar8c G C 10: 23,977,463 (GRCm39) Y116* probably null Het
Tchh C G 3: 93,355,353 (GRCm39) R1598G unknown Het
Tex15 A G 8: 34,061,661 (GRCm39) M364V probably benign Het
Ttbk1 T C 17: 46,778,057 (GRCm39) R662G probably damaging Het
Ttc5 G A 14: 51,004,683 (GRCm39) Q374* probably null Het
Usp46 C T 5: 74,162,783 (GRCm39) A312T probably benign Het
Vmn1r176 A T 7: 23,535,051 (GRCm39) L34Q probably damaging Het
Vmn1r178 A T 7: 23,593,317 (GRCm39) R122* probably null Het
Vmn2r6 T A 3: 64,472,488 (GRCm39) M78L probably benign Het
Zfp407 A T 18: 84,227,573 (GRCm39) I2012N probably benign Het
Zfp980 G A 4: 145,428,653 (GRCm39) G461S probably benign Het
Zfyve26 G A 12: 79,310,723 (GRCm39) L161F probably damaging 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
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
R4878:Nup107 UTSW 10 117,587,323 (GRCm39) missense probably benign 0.17
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'- AATCACAGCCTGCGTCTGTAAGTC -3'
(R):5'- TCAGATTCAGGGTGGAAGGATTACCAA -3'

Sequencing Primer
(F):5'- tgggacagcacaggcac -3'
(R):5'- GGTGGAAGGATTACCAAAAATAAAAC -3'
Posted On 2014-01-15