Incidental Mutation 'R6185:Nup188'
ID 502073
Institutional Source Beutler Lab
Gene Symbol Nup188
Ensembl Gene ENSMUSG00000052533
Gene Name nucleoporin 188
Synonyms
MMRRC Submission 044325-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.951) question?
Stock # R6185 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 30176419-30234278 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 30231722 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 1439 (T1439S)
Ref Sequence ENSEMBL: ENSMUSP00000065836 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028214] [ENSMUST00000064447] [ENSMUST00000100215] [ENSMUST00000113620] [ENSMUST00000113621] [ENSMUST00000163668]
AlphaFold Q6ZQH8
Predicted Effect probably benign
Transcript: ENSMUST00000028214
SMART Domains Protein: ENSMUSP00000028214
Gene: ENSMUSG00000026860

DomainStartEndE-ValueType
BAR 7 280 8.25e-92 SMART
low complexity region 288 334 N/A INTRINSIC
SH3 338 395 2.16e-12 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000064447
AA Change: T1439S

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000065836
Gene: ENSMUSG00000052533
AA Change: T1439S

DomainStartEndE-ValueType
Pfam:Nup188 31 941 9.3e-213 PFAM
low complexity region 1020 1035 N/A INTRINSIC
low complexity region 1307 1320 N/A INTRINSIC
low complexity region 1330 1360 N/A INTRINSIC
low complexity region 1696 1709 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000100215
SMART Domains Protein: ENSMUSP00000097788
Gene: ENSMUSG00000026860

DomainStartEndE-ValueType
BAR 7 280 4.42e-92 SMART
low complexity region 293 339 N/A INTRINSIC
SH3 343 400 2.16e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113620
SMART Domains Protein: ENSMUSP00000109250
Gene: ENSMUSG00000026860

DomainStartEndE-ValueType
BAR 7 259 3.85e-92 SMART
low complexity region 267 313 N/A INTRINSIC
SH3 317 374 2.16e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113621
SMART Domains Protein: ENSMUSP00000109251
Gene: ENSMUSG00000026860

DomainStartEndE-ValueType
BAR 7 284 5.36e-91 SMART
low complexity region 297 343 N/A INTRINSIC
SH3 347 404 2.16e-12 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128387
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133421
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142720
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146400
Predicted Effect probably benign
Transcript: ENSMUST00000163668
SMART Domains Protein: ENSMUSP00000131545
Gene: ENSMUSG00000026860

DomainStartEndE-ValueType
BAR 7 259 2.06e-92 SMART
low complexity region 272 318 N/A INTRINSIC
SH3 322 379 2.16e-12 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142689
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151354
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 96% (80/83)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The nuclear pore complex (NPC) is found on the nuclear envelope and forms a gateway that regulates the flow of proteins and RNAs between the cytoplasm and nucleoplasm. The NPC is comprised of approximately 30 distinct proteins collectively known as nucleoporins. Nucleoporins are pore-complex-specific glycoproteins which often have cytoplasmically oriented O-linked N-acetylglucosamine residues and numerous repeats of the pentapeptide sequence XFXFG. However, the nucleoporin protein encoded by this gene does not contain the typical FG repeat sequences found in most vertebrate nucleoporins. This nucleoporin is thought to form part of the scaffold for the central channel of the nuclear pore. [provided by RefSeq, Jan 2013]
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 A T 4: 53,078,089 (GRCm39) H894Q probably benign Het
Abca4 A T 3: 121,919,789 (GRCm39) I1024F probably damaging Het
Acadl A G 1: 66,877,522 (GRCm39) V343A possibly damaging Het
Akr1e1 T A 13: 4,651,252 (GRCm39) I123L probably benign Het
Angptl2 T C 2: 33,119,026 (GRCm39) S267P probably benign Het
Ap2a1 T G 7: 44,565,594 (GRCm39) K91T probably damaging Het
Bend7 A T 2: 4,793,333 (GRCm39) Q379L probably damaging Het
Bicdl1 C T 5: 115,808,212 (GRCm39) probably null Het
Cachd1 C A 4: 100,838,228 (GRCm39) Y830* probably null Het
Ccdc158 T A 5: 92,814,713 (GRCm39) I38F possibly damaging Het
Cep97 T A 16: 55,735,455 (GRCm39) M448L probably benign Het
Chd9 A G 8: 91,775,765 (GRCm39) D2572G probably damaging Het
Clcnkb C T 4: 141,141,825 (GRCm39) V54M probably benign Het
Cln8 A G 8: 14,946,544 (GRCm39) D186G probably benign Het
Crxos C T 7: 15,636,805 (GRCm39) S22L possibly damaging Het
Cx3cr1 A T 9: 119,880,444 (GRCm39) H319Q probably benign Het
Cyp2j6 G C 4: 96,424,323 (GRCm39) L145V probably damaging Het
Dmrta1 A G 4: 89,580,005 (GRCm39) R322G probably damaging Het
Dpf1 A G 7: 29,010,696 (GRCm39) E103G possibly damaging Het
Dsg1b T G 18: 20,532,543 (GRCm39) V529G probably benign Het
Dst G A 1: 34,212,161 (GRCm39) V1361I probably damaging Het
Epha4 T C 1: 77,483,743 (GRCm39) I89V probably damaging Het
Etfdh G T 3: 79,513,114 (GRCm39) H370N probably benign Het
Fam186a A G 15: 99,845,530 (GRCm39) I238T unknown Het
Fbxl5 T A 5: 43,978,894 (GRCm39) S19C probably benign Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Fryl A G 5: 73,270,131 (GRCm39) V367A probably benign Het
Gm19410 T A 8: 36,274,664 (GRCm39) L1495H possibly damaging Het
Gm19965 A G 1: 116,749,003 (GRCm39) E228G possibly damaging Het
Gpr89 C A 3: 96,798,149 (GRCm39) C169F probably damaging Het
Hmcn1 A T 1: 150,491,189 (GRCm39) probably null Het
Hsph1 A T 5: 149,541,160 (GRCm39) C753S probably damaging Het
Igf2 T A 7: 142,212,118 (GRCm39) S4C possibly damaging Het
Kansl3 A T 1: 36,385,099 (GRCm39) S486T probably damaging Het
Khdrbs1 G C 4: 129,636,068 (GRCm39) probably benign Het
Lnx1 A T 5: 74,846,269 (GRCm39) C60* probably null Het
Lrpprc T C 17: 85,074,452 (GRCm39) D485G probably benign Het
Ly6i A T 15: 74,851,879 (GRCm39) S97T possibly damaging Het
Me2 G A 18: 73,924,199 (GRCm39) Q338* probably null Het
Med16 A T 10: 79,732,197 (GRCm39) L790Q probably damaging Het
Muc16 G T 9: 18,565,769 (GRCm39) T2250K unknown Het
Myo10 T G 15: 25,726,596 (GRCm39) F273C probably damaging Het
Neil3 T A 8: 54,052,182 (GRCm39) H472L probably benign Het
Nrxn1 T A 17: 90,344,564 (GRCm39) S57C probably damaging Het
Or10g3 T C 14: 52,610,019 (GRCm39) T164A possibly damaging Het
Or10g7 T C 9: 39,905,420 (GRCm39) F105L probably benign Het
Or5w10 A G 2: 87,375,087 (GRCm39) M267T possibly damaging Het
Otud7a T A 7: 63,408,133 (GRCm39) L812Q probably damaging Het
Paip2b C T 6: 83,786,952 (GRCm39) A95T probably benign Het
Pax4 C T 6: 28,446,347 (GRCm39) V49I probably damaging Het
Plek C T 11: 16,931,829 (GRCm39) A341T probably damaging Het
Prkag1 G A 15: 98,723,595 (GRCm39) P10L probably benign Het
R3hdm1 A C 1: 128,079,598 (GRCm39) D15A possibly damaging Het
Rad54b A T 4: 11,593,804 (GRCm39) D144V possibly damaging Het
Rmi2 C T 16: 10,704,073 (GRCm39) T138I probably benign Het
Sbf1 A G 15: 89,189,814 (GRCm39) L379P probably damaging Het
Sec14l3 A T 11: 4,025,244 (GRCm39) I285F probably damaging Het
Sec31b A T 19: 44,531,723 (GRCm39) I62N possibly damaging Het
Selp A G 1: 163,953,915 (GRCm39) N72D probably damaging Het
Sipa1l1 T A 12: 82,471,802 (GRCm39) S1261T probably damaging Het
Sipa1l2 A T 8: 126,194,992 (GRCm39) Y915* probably null Het
Slc22a27 A T 19: 7,903,953 (GRCm39) D61E probably benign Het
Slc2a7 A G 4: 150,233,450 (GRCm39) T8A probably benign Het
Slc5a2 T C 7: 127,870,349 (GRCm39) I529T probably damaging Het
Spart A C 3: 55,024,640 (GRCm39) Q78H probably damaging Het
Spocd1 T C 4: 129,850,242 (GRCm39) I756T probably benign Het
Stc1 G A 14: 69,275,813 (GRCm39) C202Y probably damaging Het
Stk10 A G 11: 32,527,749 (GRCm39) T166A probably benign Het
Syt6 A T 3: 103,492,844 (GRCm39) D32V probably damaging Het
Tanc1 T A 2: 59,621,929 (GRCm39) probably null Het
Tanc2 T A 11: 105,803,865 (GRCm39) N297K probably damaging Het
Telo2 A G 17: 25,321,014 (GRCm39) S734P probably benign Het
Tfrc T A 16: 32,437,090 (GRCm39) Y250N probably benign Het
Tmem97 C T 11: 78,434,388 (GRCm39) W65* probably null Het
Ubr3 T C 2: 69,768,621 (GRCm39) M476T probably damaging Het
Ubtf T C 11: 102,204,849 (GRCm39) T117A probably damaging Het
Usp17lb T A 7: 104,490,631 (GRCm39) M99L probably benign Het
Uvrag A C 7: 98,790,039 (GRCm39) probably null Het
Vmn2r63 A G 7: 42,578,435 (GRCm39) S153P probably damaging Het
Vmn2r90 A T 17: 17,953,644 (GRCm39) T603S probably damaging Het
Vps8 C A 16: 21,288,891 (GRCm39) L417I probably damaging Het
Other mutations in Nup188
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00908:Nup188 APN 2 30,223,412 (GRCm39) missense probably damaging 0.98
IGL01599:Nup188 APN 2 30,217,537 (GRCm39) missense possibly damaging 0.92
IGL01938:Nup188 APN 2 30,219,371 (GRCm39) missense probably benign
IGL01973:Nup188 APN 2 30,229,862 (GRCm39) missense possibly damaging 0.95
IGL02157:Nup188 APN 2 30,219,385 (GRCm39) nonsense probably null
IGL02221:Nup188 APN 2 30,220,653 (GRCm39) missense possibly damaging 0.75
IGL02277:Nup188 APN 2 30,216,523 (GRCm39) missense possibly damaging 0.95
IGL02335:Nup188 APN 2 30,213,648 (GRCm39) critical splice donor site probably null
IGL02986:Nup188 APN 2 30,197,645 (GRCm39) splice site probably null
IGL03029:Nup188 APN 2 30,212,592 (GRCm39) splice site probably benign
IGL03194:Nup188 APN 2 30,194,346 (GRCm39) missense possibly damaging 0.95
IGL03370:Nup188 APN 2 30,230,653 (GRCm39) missense possibly damaging 0.52
core UTSW 2 30,229,906 (GRCm39) missense probably damaging 1.00
kern UTSW 2 30,227,045 (GRCm39) missense possibly damaging 0.94
P0027:Nup188 UTSW 2 30,212,693 (GRCm39) missense probably damaging 0.99
R0006:Nup188 UTSW 2 30,212,035 (GRCm39) missense probably benign 0.27
R0360:Nup188 UTSW 2 30,216,491 (GRCm39) missense probably null 0.93
R0373:Nup188 UTSW 2 30,221,000 (GRCm39) missense probably damaging 1.00
R0645:Nup188 UTSW 2 30,233,478 (GRCm39) splice site probably null
R1411:Nup188 UTSW 2 30,233,807 (GRCm39) missense probably benign 0.01
R1670:Nup188 UTSW 2 30,230,667 (GRCm39) missense probably benign 0.19
R2034:Nup188 UTSW 2 30,200,097 (GRCm39) unclassified probably benign
R2113:Nup188 UTSW 2 30,194,113 (GRCm39) nonsense probably null
R2142:Nup188 UTSW 2 30,226,718 (GRCm39) missense possibly damaging 0.49
R2221:Nup188 UTSW 2 30,226,936 (GRCm39) splice site probably benign
R2567:Nup188 UTSW 2 30,231,794 (GRCm39) missense possibly damaging 0.53
R2964:Nup188 UTSW 2 30,215,358 (GRCm39) missense probably damaging 0.98
R4006:Nup188 UTSW 2 30,199,890 (GRCm39) missense probably damaging 0.99
R4007:Nup188 UTSW 2 30,199,890 (GRCm39) missense probably damaging 0.99
R4079:Nup188 UTSW 2 30,199,890 (GRCm39) missense probably damaging 0.99
R4480:Nup188 UTSW 2 30,212,141 (GRCm39) intron probably benign
R4628:Nup188 UTSW 2 30,219,358 (GRCm39) missense probably damaging 1.00
R4687:Nup188 UTSW 2 30,220,645 (GRCm39) missense probably benign 0.01
R4814:Nup188 UTSW 2 30,216,523 (GRCm39) missense possibly damaging 0.95
R4834:Nup188 UTSW 2 30,229,596 (GRCm39) missense probably damaging 1.00
R5038:Nup188 UTSW 2 30,199,232 (GRCm39) missense probably damaging 0.98
R5056:Nup188 UTSW 2 30,194,143 (GRCm39) missense probably damaging 0.98
R5124:Nup188 UTSW 2 30,220,947 (GRCm39) missense probably damaging 1.00
R5256:Nup188 UTSW 2 30,220,761 (GRCm39) missense probably damaging 1.00
R5284:Nup188 UTSW 2 30,220,647 (GRCm39) missense probably damaging 1.00
R5548:Nup188 UTSW 2 30,216,505 (GRCm39) missense probably damaging 0.99
R5560:Nup188 UTSW 2 30,199,897 (GRCm39) missense probably damaging 0.99
R5668:Nup188 UTSW 2 30,226,336 (GRCm39) missense probably damaging 1.00
R5769:Nup188 UTSW 2 30,220,747 (GRCm39) missense probably benign 0.34
R5773:Nup188 UTSW 2 30,212,208 (GRCm39) missense possibly damaging 0.92
R5774:Nup188 UTSW 2 30,191,060 (GRCm39) missense probably damaging 1.00
R5827:Nup188 UTSW 2 30,229,859 (GRCm39) missense probably damaging 1.00
R5919:Nup188 UTSW 2 30,229,906 (GRCm39) missense probably damaging 1.00
R5923:Nup188 UTSW 2 30,194,102 (GRCm39) missense probably benign
R6457:Nup188 UTSW 2 30,212,199 (GRCm39) missense probably damaging 0.98
R6529:Nup188 UTSW 2 30,216,466 (GRCm39) missense possibly damaging 0.95
R7002:Nup188 UTSW 2 30,213,580 (GRCm39) missense probably damaging 0.99
R7195:Nup188 UTSW 2 30,231,842 (GRCm39) critical splice donor site probably null
R7214:Nup188 UTSW 2 30,197,566 (GRCm39) missense possibly damaging 0.71
R7345:Nup188 UTSW 2 30,230,613 (GRCm39) missense probably benign 0.09
R7853:Nup188 UTSW 2 30,213,575 (GRCm39) missense possibly damaging 0.95
R7998:Nup188 UTSW 2 30,220,983 (GRCm39) missense probably damaging 1.00
R8012:Nup188 UTSW 2 30,227,277 (GRCm39) missense possibly damaging 0.95
R8080:Nup188 UTSW 2 30,227,045 (GRCm39) missense possibly damaging 0.94
R8804:Nup188 UTSW 2 30,220,891 (GRCm39) missense probably benign
R8850:Nup188 UTSW 2 30,217,576 (GRCm39) missense probably damaging 0.99
R9110:Nup188 UTSW 2 30,222,461 (GRCm39) missense possibly damaging 0.94
R9157:Nup188 UTSW 2 30,188,456 (GRCm39) missense probably benign 0.02
R9209:Nup188 UTSW 2 30,232,397 (GRCm39) missense probably benign 0.02
R9287:Nup188 UTSW 2 30,226,726 (GRCm39) missense probably damaging 0.99
R9325:Nup188 UTSW 2 30,212,271 (GRCm39) missense probably damaging 0.99
R9390:Nup188 UTSW 2 30,220,777 (GRCm39) critical splice donor site probably null
R9607:Nup188 UTSW 2 30,197,724 (GRCm39) missense probably benign 0.01
R9746:Nup188 UTSW 2 30,194,300 (GRCm39) missense probably damaging 0.99
R9768:Nup188 UTSW 2 30,227,045 (GRCm39) missense probably damaging 0.99
T0722:Nup188 UTSW 2 30,212,693 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GACTTGAGTCACCTGACCAAGG -3'
(R):5'- CATTCAGAGACGCCTCCAGTTC -3'

Sequencing Primer
(F):5'- CATTACAGATGGTTGTGAGCCACC -3'
(R):5'- TCCAGTTCACCGAGGAGAC -3'
Posted On 2018-02-27