Incidental Mutation 'R7313:Nup155'
ID 567786
Institutional Source Beutler Lab
Gene Symbol Nup155
Ensembl Gene ENSMUSG00000022142
Gene Name nucleoporin 155
Synonyms D930027M19Rik
MMRRC Submission 045411-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7313 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 8138757-8190731 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 8184406 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 1267 (I1267N)
Ref Sequence ENSEMBL: ENSMUSP00000128819 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000163765] [ENSMUST00000230017]
AlphaFold Q99P88
Predicted Effect probably damaging
Transcript: ENSMUST00000163765
AA Change: I1267N

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000128819
Gene: ENSMUSG00000022142
AA Change: I1267N

DomainStartEndE-ValueType
low complexity region 7 18 N/A INTRINSIC
Pfam:Nucleoporin_N 77 510 3.5e-105 PFAM
low complexity region 600 619 N/A INTRINSIC
Pfam:Nucleoporin_C 678 1221 3.6e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000230017
AA Change: I1267N

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Nucleoporins are proteins that play an important role in the assembly and functioning of the nuclear pore complex (NPC) which regulates the movement of macromolecules across the nuclear envelope (NE). The protein encoded by this gene plays a role in the fusion of NE vesicles and formation of the double membrane NE. The protein may also be involved in cardiac physiology and may be associated with the pathogenesis of atrial fibrillation. Alternative splicing results in multiple transcript variants of this gene. A pseudogene associated with this gene is located on chromosome 6. [provided by RefSeq, May 2013]
PHENOTYPE: Mice homozygous for a gene trap allele die prior to E8.5. Mice homozygous for a gene trap allele exhibit atria fibrillation associated with shortened action potential duration. [provided by MGI curators]
Allele List at MGI

All alleles(18) : Gene trapped(18)

Other mutations in this stock
Total: 110 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a A G 5: 8,773,187 (GRCm39) N805S probably damaging Het
Acat2 A G 17: 13,178,893 (GRCm39) V60A probably benign Het
Adam6b A G 12: 113,454,754 (GRCm39) I524V probably benign Het
Adamts16 C T 13: 70,921,074 (GRCm39) W590* probably null Het
Adamts9 C T 6: 92,835,102 (GRCm39) G1257D probably damaging Het
Adgrf5 C T 17: 43,755,974 (GRCm39) T644I probably benign Het
Adgrf5 T G 17: 43,763,368 (GRCm39) probably null Het
Adgrv1 T C 13: 81,668,634 (GRCm39) T2641A possibly damaging Het
Agap3 T C 5: 24,657,382 (GRCm39) F60L probably benign Het
Akap9 C A 5: 4,054,933 (GRCm39) T1626K probably damaging Het
Ampd3 C A 7: 110,405,261 (GRCm39) D603E probably damaging Het
Angpt4 T A 2: 151,767,326 (GRCm39) V119E probably benign Het
Atp6v1a T C 16: 43,934,980 (GRCm39) T70A probably benign Het
B4galt3 T A 1: 171,100,319 (GRCm39) I163N probably damaging Het
Borcs5 C T 6: 134,687,143 (GRCm39) T167M probably damaging Het
Btbd19 T A 4: 116,978,616 (GRCm39) S156C probably damaging Het
Camkk2 C T 5: 122,875,574 (GRCm39) R492Q possibly damaging Het
Casr T C 16: 36,330,033 (GRCm39) I434V probably damaging Het
Cd4 G T 6: 124,844,066 (GRCm39) T394K probably benign Het
Cps1 T C 1: 67,237,517 (GRCm39) L1006P probably damaging Het
Crx G A 7: 15,601,857 (GRCm39) P274S probably damaging Het
Crybg1 T A 10: 43,865,107 (GRCm39) I1457F probably damaging Het
Cul4a C A 8: 13,171,676 (GRCm39) probably benign Het
D430041D05Rik T A 2: 104,085,910 (GRCm39) T196S probably benign Het
Dnah3 T C 7: 119,580,567 (GRCm39) E1995G probably benign Het
Dnm1 T A 2: 32,226,021 (GRCm39) T353S probably damaging Het
Ect2l T A 10: 18,044,149 (GRCm39) T329S probably damaging Het
Elp2 T A 18: 24,742,716 (GRCm39) S83T probably benign Het
Exosc7 A G 9: 122,948,013 (GRCm39) T39A probably benign Het
Fam135a C A 1: 24,096,473 (GRCm39) V91F probably damaging Het
Gab2 G T 7: 96,731,005 (GRCm39) probably benign Het
Gbf1 A T 19: 46,268,793 (GRCm39) I1408F possibly damaging Het
Glis3 C T 19: 28,508,419 (GRCm39) E522K probably damaging Het
Gm10375 A T 14: 43,842,314 (GRCm39) C139S possibly damaging Het
Gm26558 T C 2: 70,492,211 (GRCm39) E81G unknown Het
Gm35315 C T 5: 110,227,091 (GRCm39) C116Y probably benign Het
Gm3676 T A 14: 41,366,064 (GRCm39) I84F probably damaging Het
Gm7145 T A 1: 117,913,932 (GRCm39) H271Q probably damaging Het
Gpat2 T A 2: 127,270,215 (GRCm39) I76N probably damaging Het
Hipk1 A T 3: 103,685,574 (GRCm39) S14T unknown Het
Hlcs C A 16: 94,068,362 (GRCm39) S286I probably damaging Het
Ighg1 A T 12: 113,293,078 (GRCm39) F204Y Het
Igsf10 T C 3: 59,236,837 (GRCm39) I1115V probably benign Het
Klk7 A T 7: 43,462,299 (GRCm39) H97L probably damaging Het
Kmt2d A T 15: 98,754,504 (GRCm39) D1605E unknown Het
Leng8 T A 7: 4,142,525 (GRCm39) I49N possibly damaging Het
Lingo4 A T 3: 94,310,451 (GRCm39) D463V possibly damaging Het
Lrp1 T A 10: 127,389,337 (GRCm39) N3193I probably damaging Het
Lrrc7 T A 3: 157,866,111 (GRCm39) Y1210F probably damaging Het
Mki67 G C 7: 135,296,400 (GRCm39) A2878G probably benign Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Mtcl3 T A 10: 29,072,875 (GRCm39) Y722* probably null Het
Mucl2 C T 15: 103,929,445 (GRCm39) probably null Het
Myh6 A T 14: 55,197,727 (GRCm39) D470E probably benign Het
Myo1e T C 9: 70,266,667 (GRCm39) probably null Het
Myo7a G A 7: 97,713,402 (GRCm39) R1647W probably damaging Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Nmral1 C T 16: 4,531,660 (GRCm39) M198I probably benign Het
Nrap C A 19: 56,330,700 (GRCm39) L1120F probably damaging Het
Obscn G A 11: 58,898,414 (GRCm39) P6616S unknown Het
Ocstamp T G 2: 165,239,229 (GRCm39) D319A probably damaging Het
Ooep T C 9: 78,285,433 (GRCm39) D61G probably damaging Het
Or10p1 A G 10: 129,443,949 (GRCm39) S134P probably benign Het
Or1e25 A T 11: 73,493,810 (GRCm39) I135F probably damaging Het
Or52ad1 A G 7: 102,995,538 (GRCm39) V199A probably benign Het
Or6c5c T C 10: 129,298,856 (GRCm39) S104P probably damaging Het
Or7g35 A G 9: 19,495,938 (GRCm39) Y35C probably damaging Het
Otoa A G 7: 120,701,765 (GRCm39) E148G probably benign Het
Ovgp1 A T 3: 105,894,387 (GRCm39) D720V unknown Het
Padi2 T A 4: 140,660,079 (GRCm39) F294I probably damaging Het
Pcdha7 T A 18: 37,107,471 (GRCm39) N165K probably damaging Het
Pcdhb6 C A 18: 37,468,261 (GRCm39) P394H probably damaging Het
Pcdhga6 T C 18: 37,841,072 (GRCm39) V264A possibly damaging Het
Pik3ap1 G T 19: 41,284,815 (GRCm39) D623E possibly damaging Het
Prdm10 A T 9: 31,268,456 (GRCm39) K802* probably null Het
Ptgfrn G A 3: 100,980,363 (GRCm39) L326F possibly damaging Het
Rgsl1 T G 1: 153,683,622 (GRCm39) probably null Het
Rock1 T G 18: 10,129,317 (GRCm39) T347P possibly damaging Het
Rprd2 G A 3: 95,684,022 (GRCm39) P338S probably damaging Het
Sdk1 A T 5: 141,923,377 (GRCm39) N333Y probably damaging Het
Setd4 T A 16: 93,388,132 (GRCm39) H118L probably benign Het
Sirt3 G A 7: 140,458,039 (GRCm39) P37S Het
Slc16a9 G T 10: 70,119,000 (GRCm39) G440W probably damaging Het
Slc22a23 T A 13: 34,367,161 (GRCm39) I616F probably damaging Het
Slc30a8 A C 15: 52,180,707 (GRCm39) D102A probably damaging Het
Slc6a4 T A 11: 76,901,527 (GRCm39) D87E possibly damaging Het
Slc9a4 A C 1: 40,668,663 (GRCm39) T769P probably benign Het
Sspo A T 6: 48,431,762 (GRCm39) Y685F probably damaging Het
Sspo C A 6: 48,450,390 (GRCm39) Q2560K probably benign Het
Stpg1 T A 4: 135,256,827 (GRCm39) L206Q probably damaging Het
Stt3b A T 9: 115,095,183 (GRCm39) Y283N probably damaging Het
Sult4a1 T C 15: 83,970,814 (GRCm39) E197G probably damaging Het
Syne1 T G 10: 4,997,635 (GRCm39) D444A probably damaging Het
Tex15 T A 8: 34,064,845 (GRCm39) V1425E possibly damaging Het
Tgm4 A G 9: 122,891,556 (GRCm39) D557G probably benign Het
Tmcc3 A G 10: 94,266,434 (GRCm39) probably benign Het
Tnfrsf8 T A 4: 145,000,952 (GRCm39) N385Y probably benign Het
Ttc4 T C 4: 106,536,017 (GRCm39) D15G possibly damaging Het
Tut1 A G 19: 8,941,413 (GRCm39) N400S probably benign Het
Usp39 T C 6: 72,313,413 (GRCm39) K259R probably benign Het
Vmn1r215 C T 13: 23,260,484 (GRCm39) H175Y probably benign Het
Vmn1r36 A T 6: 66,693,107 (GRCm39) M256K probably benign Het
Zfp128 T A 7: 12,624,461 (GRCm39) H276Q possibly damaging Het
Zfp276 T C 8: 123,994,562 (GRCm39) M543T probably damaging Het
Zfp354c A T 11: 50,705,483 (GRCm39) Y531N probably damaging Het
Zfp532 T A 18: 65,756,076 (GRCm39) M3K probably damaging Het
Zfp64 T G 2: 168,741,810 (GRCm39) K373Q probably damaging Het
Zfp764l1 C T 7: 126,990,856 (GRCm39) S377N probably benign Het
Zfp983 T G 17: 21,880,413 (GRCm39) S114A probably damaging Het
Zranb1 G A 7: 132,584,481 (GRCm39) R583K probably damaging Het
Other mutations in Nup155
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00228:Nup155 APN 15 8,150,939 (GRCm39) splice site probably benign
IGL00426:Nup155 APN 15 8,186,278 (GRCm39) makesense probably null
IGL00765:Nup155 APN 15 8,182,712 (GRCm39) missense probably benign 0.16
IGL00936:Nup155 APN 15 8,157,889 (GRCm39) splice site probably benign
IGL01124:Nup155 APN 15 8,183,163 (GRCm39) missense probably damaging 0.97
IGL01739:Nup155 APN 15 8,165,272 (GRCm39) missense probably benign 0.01
IGL02013:Nup155 APN 15 8,143,132 (GRCm39) missense possibly damaging 0.61
IGL02066:Nup155 APN 15 8,187,250 (GRCm39) unclassified probably benign
IGL02231:Nup155 APN 15 8,173,548 (GRCm39) missense probably damaging 1.00
IGL02246:Nup155 APN 15 8,172,486 (GRCm39) missense probably benign
IGL02289:Nup155 APN 15 8,160,977 (GRCm39) missense probably damaging 1.00
IGL02608:Nup155 APN 15 8,138,955 (GRCm39) missense probably benign
IGL02749:Nup155 APN 15 8,163,560 (GRCm39) missense probably damaging 1.00
IGL02813:Nup155 APN 15 8,159,605 (GRCm39) splice site probably benign
IGL03102:Nup155 APN 15 8,176,768 (GRCm39) missense probably benign 0.00
H8930:Nup155 UTSW 15 8,187,142 (GRCm39) missense possibly damaging 0.50
IGL02835:Nup155 UTSW 15 8,172,614 (GRCm39) missense probably damaging 1.00
R0314:Nup155 UTSW 15 8,176,736 (GRCm39) missense probably benign 0.00
R0365:Nup155 UTSW 15 8,161,027 (GRCm39) missense probably damaging 1.00
R0586:Nup155 UTSW 15 8,159,716 (GRCm39) missense probably benign 0.39
R0764:Nup155 UTSW 15 8,187,244 (GRCm39) missense probably damaging 1.00
R0839:Nup155 UTSW 15 8,175,071 (GRCm39) missense possibly damaging 0.48
R0844:Nup155 UTSW 15 8,187,244 (GRCm39) missense probably damaging 1.00
R1066:Nup155 UTSW 15 8,187,244 (GRCm39) missense probably damaging 1.00
R1067:Nup155 UTSW 15 8,187,244 (GRCm39) missense probably damaging 1.00
R1085:Nup155 UTSW 15 8,187,244 (GRCm39) missense probably damaging 1.00
R1137:Nup155 UTSW 15 8,187,244 (GRCm39) missense probably damaging 1.00
R1162:Nup155 UTSW 15 8,187,244 (GRCm39) missense probably damaging 1.00
R1166:Nup155 UTSW 15 8,187,244 (GRCm39) missense probably damaging 1.00
R1202:Nup155 UTSW 15 8,187,244 (GRCm39) missense probably damaging 1.00
R1203:Nup155 UTSW 15 8,187,244 (GRCm39) missense probably damaging 1.00
R1219:Nup155 UTSW 15 8,146,822 (GRCm39) missense possibly damaging 0.80
R1385:Nup155 UTSW 15 8,187,244 (GRCm39) missense probably damaging 1.00
R1421:Nup155 UTSW 15 8,187,244 (GRCm39) missense probably damaging 1.00
R1448:Nup155 UTSW 15 8,141,890 (GRCm39) missense probably benign 0.44
R1611:Nup155 UTSW 15 8,159,644 (GRCm39) missense probably damaging 1.00
R1836:Nup155 UTSW 15 8,184,464 (GRCm39) missense possibly damaging 0.79
R1863:Nup155 UTSW 15 8,187,244 (GRCm39) missense probably damaging 1.00
R1866:Nup155 UTSW 15 8,145,010 (GRCm39) missense probably damaging 1.00
R1894:Nup155 UTSW 15 8,187,244 (GRCm39) missense probably damaging 1.00
R1976:Nup155 UTSW 15 8,165,311 (GRCm39) missense probably benign 0.01
R2024:Nup155 UTSW 15 8,187,244 (GRCm39) missense probably damaging 1.00
R2026:Nup155 UTSW 15 8,187,244 (GRCm39) missense probably damaging 1.00
R2027:Nup155 UTSW 15 8,187,244 (GRCm39) missense probably damaging 1.00
R2077:Nup155 UTSW 15 8,172,510 (GRCm39) missense probably damaging 1.00
R2111:Nup155 UTSW 15 8,150,951 (GRCm39) missense probably benign 0.45
R2921:Nup155 UTSW 15 8,183,125 (GRCm39) missense probably damaging 1.00
R2936:Nup155 UTSW 15 8,172,533 (GRCm39) missense possibly damaging 0.89
R3108:Nup155 UTSW 15 8,146,790 (GRCm39) missense probably null 1.00
R3161:Nup155 UTSW 15 8,177,867 (GRCm39) missense possibly damaging 0.56
R3162:Nup155 UTSW 15 8,177,867 (GRCm39) missense possibly damaging 0.56
R3162:Nup155 UTSW 15 8,177,867 (GRCm39) missense possibly damaging 0.56
R3522:Nup155 UTSW 15 8,186,162 (GRCm39) splice site probably benign
R4423:Nup155 UTSW 15 8,150,948 (GRCm39) missense probably damaging 0.99
R4451:Nup155 UTSW 15 8,180,366 (GRCm39) missense probably benign 0.02
R4498:Nup155 UTSW 15 8,183,157 (GRCm39) missense possibly damaging 0.88
R4780:Nup155 UTSW 15 8,187,187 (GRCm39) missense probably benign 0.00
R4822:Nup155 UTSW 15 8,158,010 (GRCm39) missense possibly damaging 0.49
R5013:Nup155 UTSW 15 8,153,722 (GRCm39) missense probably benign 0.00
R5064:Nup155 UTSW 15 8,165,354 (GRCm39) missense probably damaging 1.00
R5172:Nup155 UTSW 15 8,139,026 (GRCm39) missense probably benign 0.06
R5406:Nup155 UTSW 15 8,183,122 (GRCm39) critical splice acceptor site probably null
R5551:Nup155 UTSW 15 8,177,817 (GRCm39) missense probably benign 0.09
R5588:Nup155 UTSW 15 8,148,737 (GRCm39) critical splice donor site probably null
R5977:Nup155 UTSW 15 8,159,721 (GRCm39) critical splice donor site probably null
R6035:Nup155 UTSW 15 8,173,577 (GRCm39) missense probably benign
R6035:Nup155 UTSW 15 8,173,577 (GRCm39) missense probably benign
R6036:Nup155 UTSW 15 8,157,895 (GRCm39) missense probably benign 0.16
R6036:Nup155 UTSW 15 8,157,895 (GRCm39) missense probably benign 0.16
R6085:Nup155 UTSW 15 8,177,842 (GRCm39) missense probably damaging 0.98
R6188:Nup155 UTSW 15 8,139,059 (GRCm39) missense probably damaging 1.00
R6232:Nup155 UTSW 15 8,138,963 (GRCm39) missense probably benign 0.02
R6257:Nup155 UTSW 15 8,180,282 (GRCm39) nonsense probably null
R6262:Nup155 UTSW 15 8,186,225 (GRCm39) missense probably benign 0.03
R6267:Nup155 UTSW 15 8,182,639 (GRCm39) missense probably damaging 1.00
R6296:Nup155 UTSW 15 8,182,639 (GRCm39) missense probably damaging 1.00
R6299:Nup155 UTSW 15 8,157,922 (GRCm39) missense possibly damaging 0.88
R6303:Nup155 UTSW 15 8,147,526 (GRCm39) missense probably damaging 1.00
R6304:Nup155 UTSW 15 8,147,526 (GRCm39) missense probably damaging 1.00
R6763:Nup155 UTSW 15 8,165,379 (GRCm39) nonsense probably null
R6958:Nup155 UTSW 15 8,176,638 (GRCm39) missense probably damaging 1.00
R7088:Nup155 UTSW 15 8,186,177 (GRCm39) missense probably benign 0.11
R7451:Nup155 UTSW 15 8,175,091 (GRCm39) nonsense probably null
R7560:Nup155 UTSW 15 8,184,531 (GRCm39) missense probably benign 0.39
R7633:Nup155 UTSW 15 8,138,937 (GRCm39) missense probably damaging 0.99
R7670:Nup155 UTSW 15 8,183,180 (GRCm39) missense probably damaging 0.99
R7726:Nup155 UTSW 15 8,151,623 (GRCm39) missense probably damaging 1.00
R7752:Nup155 UTSW 15 8,145,926 (GRCm39) missense possibly damaging 0.53
R7889:Nup155 UTSW 15 8,150,991 (GRCm39) missense probably damaging 0.98
R7899:Nup155 UTSW 15 8,148,663 (GRCm39) missense probably damaging 1.00
R7901:Nup155 UTSW 15 8,145,926 (GRCm39) missense possibly damaging 0.53
R8429:Nup155 UTSW 15 8,141,904 (GRCm39) missense probably damaging 0.96
R8467:Nup155 UTSW 15 8,151,015 (GRCm39) missense probably benign 0.00
R8507:Nup155 UTSW 15 8,177,044 (GRCm39) nonsense probably null
R8860:Nup155 UTSW 15 8,159,640 (GRCm39) missense possibly damaging 0.96
R8994:Nup155 UTSW 15 8,172,645 (GRCm39) critical splice donor site probably null
R9046:Nup155 UTSW 15 8,157,919 (GRCm39) frame shift probably null
R9086:Nup155 UTSW 15 8,177,830 (GRCm39) missense possibly damaging 0.84
R9500:Nup155 UTSW 15 8,141,800 (GRCm39) missense probably damaging 1.00
RF003:Nup155 UTSW 15 8,148,660 (GRCm39) critical splice acceptor site probably benign
RF048:Nup155 UTSW 15 8,148,660 (GRCm39) critical splice acceptor site probably benign
Z1177:Nup155 UTSW 15 8,149,973 (GRCm39) missense probably benign 0.23
Predicted Primers PCR Primer
(F):5'- GTCCAAATTTCTGGGAAGTGATG -3'
(R):5'- TCACCTGTATCTGGGGAGATC -3'

Sequencing Primer
(F):5'- CTGGCTTAGCAATGAGAACGCTTG -3'
(R):5'- CACCTGTATCTGGGGAGATCATTTTG -3'
Posted On 2019-06-26