Incidental Mutation 'R2108:Nup153'
ID 232297
Institutional Source Beutler Lab
Gene Symbol Nup153
Ensembl Gene ENSMUSG00000021374
Gene Name nucleoporin 153
Synonyms B130015D15Rik
MMRRC Submission 040112-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.936) question?
Stock # R2108 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 46833381-46881416 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 46846986 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000021803]
AlphaFold E9Q3G8
Predicted Effect probably null
Transcript: ENSMUST00000021803
SMART Domains Protein: ENSMUSP00000021803
Gene: ENSMUSG00000021374

DomainStartEndE-ValueType
low complexity region 6 15 N/A INTRINSIC
Pfam:Nup153 114 627 6e-236 PFAM
ZnF_RBZ 656 680 6.56e-6 SMART
ZnF_RBZ 719 743 5.89e-8 SMART
low complexity region 756 775 N/A INTRINSIC
ZnF_RBZ 787 811 7.2e-3 SMART
low complexity region 815 830 N/A INTRINSIC
ZnF_RBZ 844 868 1.64e-6 SMART
low complexity region 898 911 N/A INTRINSIC
low complexity region 1078 1085 N/A INTRINSIC
low complexity region 1183 1207 N/A INTRINSIC
low complexity region 1248 1260 N/A INTRINSIC
low complexity region 1271 1296 N/A INTRINSIC
Pfam:Nup_retrotrp_bd 1372 1462 4.4e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224186
Predicted Effect probably null
Transcript: ENSMUST00000224203
Predicted Effect probably benign
Transcript: ENSMUST00000225894
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Nuclear pore complexes regulate the transport of macromolecules between the nucleus and cytoplasm. They are composed of at least 100 different polypeptide subunits, many of which belong to the nucleoporin family. Nucleoporins are glycoproteins found in nuclear pores and contain characteristic pentapeptide XFXFG repeats as well as O-linked N-acetylglucosamine residues oriented towards the cytoplasm. The protein encoded by this gene has three distinct domains: a N-terminal region containing a pore targeting and an RNA-binding domain domain, a central region containing multiple zinc finger motifs, and a C-terminal region containing multiple XFXFG repeats. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013]
Allele List at MGI
Other mutations in this stock
Total: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd10 A G 16: 45,552,303 (GRCm39) M190T probably benign Het
Abhd5 A G 9: 122,207,005 (GRCm39) Y250C probably damaging Het
Ace2 A G X: 162,923,728 (GRCm39) N24S probably benign Het
Adamtsl2 A G 2: 26,985,570 (GRCm39) M485V probably benign Het
Adamtsl4 G T 3: 95,588,357 (GRCm39) P577H probably damaging Het
Akap8l C T 17: 32,551,457 (GRCm39) R511H probably damaging Het
Apc T C 18: 34,402,282 (GRCm39) Y141H probably damaging Het
Arsi A T 18: 61,049,443 (GRCm39) T109S possibly damaging Het
Asb3 G A 11: 31,031,355 (GRCm39) probably null Het
Atm T C 9: 53,355,297 (GRCm39) D2899G probably damaging Het
Bcas3 G A 11: 85,348,704 (GRCm39) V199I probably damaging Het
Bub1 T C 2: 127,661,255 (GRCm39) K279E probably damaging Het
C3 A T 17: 57,530,974 (GRCm39) probably null Het
Cabcoco1 T C 10: 68,267,153 (GRCm39) K185E probably benign Het
Cadm2 A T 16: 66,528,357 (GRCm39) I326N probably benign Het
Ccr3 T C 9: 123,829,336 (GRCm39) S224P possibly damaging Het
Cdhr4 A G 9: 107,874,843 (GRCm39) T638A probably damaging Het
Cfap46 T C 7: 139,263,677 (GRCm39) I4V probably benign Het
Csf2rb2 A T 15: 78,176,744 (GRCm39) V216E probably damaging Het
Csmd3 A T 15: 47,868,257 (GRCm39) D754E possibly damaging Het
Dnaaf1 T C 8: 120,309,471 (GRCm39) probably null Het
Dnah11 A C 12: 117,984,088 (GRCm39) Y2466D probably damaging Het
Dtx2 C T 5: 136,059,431 (GRCm39) S493F probably damaging Het
E2f7 T C 10: 110,616,763 (GRCm39) Y668H probably benign Het
Ehmt1 A T 2: 24,727,630 (GRCm39) S735T probably damaging Het
Eomes T C 9: 118,307,920 (GRCm39) F65L probably benign Het
Ercc6l2 T C 13: 64,019,802 (GRCm39) probably benign Het
Fbrsl1 A T 5: 110,526,300 (GRCm39) L439Q probably damaging Het
Fyco1 C T 9: 123,626,581 (GRCm39) probably null Het
Gfm2 A G 13: 97,291,950 (GRCm39) T229A probably benign Het
Gm7735 G A 16: 88,966,433 (GRCm39) G19D unknown Het
Gnpda1 T C 18: 38,466,243 (GRCm39) probably null Het
Gpr6 T A 10: 40,946,649 (GRCm39) Y311F possibly damaging Het
Gprc6a A T 10: 51,491,304 (GRCm39) V744E probably damaging Het
Grin3a C T 4: 49,665,510 (GRCm39) D1042N possibly damaging Het
Gstm3 A G 3: 107,873,450 (GRCm39) C174R probably damaging Het
Hectd4 A G 5: 121,471,487 (GRCm39) E2670G possibly damaging Het
Hsd3b6 A T 3: 98,713,503 (GRCm39) Y265* probably null Het
Hus1 T A 11: 8,961,110 (GRCm39) M1L probably null Het
Idi2l G A 13: 8,991,764 (GRCm39) P221S possibly damaging Het
Ifi213 T G 1: 173,396,668 (GRCm39) probably null Het
Igf2r A C 17: 12,917,138 (GRCm39) N1587K probably benign Het
Ints1 A T 5: 139,753,505 (GRCm39) V709E probably damaging Het
Ints8 C A 4: 11,235,552 (GRCm39) R359L probably damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lrp1b C T 2: 41,000,769 (GRCm39) E2152K probably damaging Het
Lrp2 A T 2: 69,336,968 (GRCm39) V1268D possibly damaging Het
Mpo T C 11: 87,686,901 (GRCm39) Y177H probably damaging Het
Mpp4 G A 1: 59,182,941 (GRCm39) P322L possibly damaging Het
Mprip A G 11: 59,660,717 (GRCm39) K2166R probably damaging Het
Myo15a T C 11: 60,382,636 (GRCm39) Y1544H probably damaging Het
Neu1 G A 17: 35,153,374 (GRCm39) R299Q probably benign Het
Nfxl1 C A 5: 72,671,675 (GRCm39) probably null Het
Nrp2 T A 1: 62,783,436 (GRCm39) I179N probably damaging Het
Or1j4 C A 2: 36,740,355 (GRCm39) A99E possibly damaging Het
Or2g7 G T 17: 38,378,746 (GRCm39) R228L possibly damaging Het
Or5p54 A T 7: 107,554,709 (GRCm39) H287L probably benign Het
Or6c6c A T 10: 129,541,490 (GRCm39) I248L probably benign Het
Or8g27 A T 9: 39,129,318 (GRCm39) I222F probably damaging Het
P2ry12 A T 3: 59,124,774 (GRCm39) D300E probably damaging Het
Pkhd1 C A 1: 20,623,798 (GRCm39) G766* probably null Het
Plagl1 A C 10: 13,004,391 (GRCm39) probably benign Het
Prkcq A T 2: 11,237,380 (GRCm39) Y53F probably damaging Het
Psg18 T C 7: 18,084,799 (GRCm39) E99G probably damaging Het
Ptprz1 T A 6: 23,033,476 (GRCm39) H1921Q probably damaging Het
Rcc1l A G 5: 134,184,629 (GRCm39) V391A probably benign Het
Sdr42e1 C T 8: 118,391,763 (GRCm39) V11I probably damaging Het
Slc12a3 C A 8: 95,067,158 (GRCm39) N404K probably damaging Het
Slc38a4 T C 15: 96,906,878 (GRCm39) M287V probably benign Het
Slc6a8 A T X: 72,720,492 (GRCm39) I96F possibly damaging Het
Smyd2 A G 1: 189,629,623 (GRCm39) S136P probably damaging Het
Sox11 A G 12: 27,391,702 (GRCm39) Y236H probably damaging Het
Tbc1d2 G A 4: 46,637,652 (GRCm39) P198L possibly damaging Het
Tcof1 G T 18: 60,968,845 (GRCm39) A256E probably damaging Het
Tenm4 A G 7: 96,555,497 (GRCm39) Y2726C probably damaging Het
Tnfsf14 T A 17: 57,497,867 (GRCm39) R122W probably damaging Het
Tril T C 6: 53,796,068 (GRCm39) T385A probably damaging Het
Trrap A G 5: 144,762,684 (GRCm39) T2386A probably benign Het
Tspear T A 10: 77,706,253 (GRCm39) L341H possibly damaging Het
Uba7 A G 9: 107,856,487 (GRCm39) M595V probably benign Het
Usp43 GC G 11: 67,746,566 (GRCm39) probably null Het
Utrn C A 10: 12,312,108 (GRCm39) D616Y probably damaging Het
Vmn2r69 T C 7: 85,059,404 (GRCm39) I502V probably benign Het
Vps13d C A 4: 144,801,617 (GRCm39) G419C probably damaging Het
Zbtb25 A T 12: 76,396,880 (GRCm39) M114K probably benign Het
Zcchc4 A G 5: 52,953,474 (GRCm39) Y161C probably damaging Het
Zfp292 A T 4: 34,808,593 (GRCm39) F1484I possibly damaging Het
Zfp326 A G 5: 106,062,646 (GRCm39) probably benign Het
Zfp395 T A 14: 65,630,565 (GRCm39) S372T probably benign Het
Zfp423 T A 8: 88,507,806 (GRCm39) E825V possibly damaging Het
Zfp445 A T 9: 122,681,305 (GRCm39) Y879N probably benign Het
Zfp451 A G 1: 33,818,248 (GRCm39) I77T possibly damaging Het
Zfp85 A T 13: 67,897,003 (GRCm39) S356R probably benign Het
Other mutations in Nup153
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00657:Nup153 APN 13 46,834,626 (GRCm39) unclassified probably benign
IGL01312:Nup153 APN 13 46,840,300 (GRCm39) missense probably benign 0.03
IGL01459:Nup153 APN 13 46,866,402 (GRCm39) missense possibly damaging 0.84
IGL01646:Nup153 APN 13 46,837,583 (GRCm39) missense possibly damaging 0.80
IGL03064:Nup153 APN 13 46,847,315 (GRCm39) missense probably benign
IGL03288:Nup153 APN 13 46,858,681 (GRCm39) missense possibly damaging 0.71
IGL03369:Nup153 APN 13 46,854,459 (GRCm39) splice site probably null
IGL03371:Nup153 APN 13 46,836,628 (GRCm39) missense probably benign 0.34
R0193:Nup153 UTSW 13 46,863,130 (GRCm39) missense probably benign 0.01
R0244:Nup153 UTSW 13 46,847,412 (GRCm39) missense probably benign 0.03
R0448:Nup153 UTSW 13 46,870,657 (GRCm39) missense probably benign 0.00
R0943:Nup153 UTSW 13 46,850,248 (GRCm39) splice site probably benign
R1219:Nup153 UTSW 13 46,840,695 (GRCm39) missense probably benign 0.01
R1381:Nup153 UTSW 13 46,842,657 (GRCm39) missense probably damaging 1.00
R1709:Nup153 UTSW 13 46,847,450 (GRCm39) missense probably damaging 1.00
R1727:Nup153 UTSW 13 46,847,261 (GRCm39) missense probably damaging 1.00
R1818:Nup153 UTSW 13 46,835,113 (GRCm39) missense possibly damaging 0.94
R1824:Nup153 UTSW 13 46,867,223 (GRCm39) missense probably damaging 1.00
R1928:Nup153 UTSW 13 46,854,502 (GRCm39) missense probably damaging 0.98
R2110:Nup153 UTSW 13 46,837,404 (GRCm39) missense probably benign 0.00
R2111:Nup153 UTSW 13 46,837,404 (GRCm39) missense probably benign 0.00
R2173:Nup153 UTSW 13 46,855,076 (GRCm39) splice site probably benign
R2231:Nup153 UTSW 13 46,863,103 (GRCm39) critical splice donor site probably null
R3879:Nup153 UTSW 13 46,837,436 (GRCm39) missense probably damaging 1.00
R4634:Nup153 UTSW 13 46,840,706 (GRCm39) missense possibly damaging 0.49
R4662:Nup153 UTSW 13 46,840,750 (GRCm39) missense possibly damaging 0.68
R4932:Nup153 UTSW 13 46,866,213 (GRCm39) nonsense probably null
R5011:Nup153 UTSW 13 46,840,879 (GRCm39) missense possibly damaging 0.62
R5023:Nup153 UTSW 13 46,834,585 (GRCm39) unclassified probably benign
R5069:Nup153 UTSW 13 46,863,268 (GRCm39) missense probably benign 0.05
R5137:Nup153 UTSW 13 46,837,629 (GRCm39) missense probably damaging 0.99
R5323:Nup153 UTSW 13 46,870,682 (GRCm39) missense probably benign 0.19
R5345:Nup153 UTSW 13 46,840,341 (GRCm39) nonsense probably null
R5536:Nup153 UTSW 13 46,836,485 (GRCm39) missense probably benign 0.01
R5613:Nup153 UTSW 13 46,840,747 (GRCm39) missense possibly damaging 0.64
R5620:Nup153 UTSW 13 46,837,482 (GRCm39) nonsense probably null
R5764:Nup153 UTSW 13 46,840,803 (GRCm39) missense probably damaging 0.97
R5849:Nup153 UTSW 13 46,840,452 (GRCm39) missense probably damaging 0.99
R6454:Nup153 UTSW 13 46,863,136 (GRCm39) splice site probably null
R6701:Nup153 UTSW 13 46,840,541 (GRCm39) missense probably benign 0.00
R6721:Nup153 UTSW 13 46,854,502 (GRCm39) missense probably damaging 0.98
R6737:Nup153 UTSW 13 46,842,682 (GRCm39) missense probably benign 0.08
R6789:Nup153 UTSW 13 46,870,792 (GRCm39) missense probably damaging 1.00
R6820:Nup153 UTSW 13 46,863,459 (GRCm39) missense probably benign 0.09
R6837:Nup153 UTSW 13 46,847,527 (GRCm39) missense probably damaging 1.00
R6913:Nup153 UTSW 13 46,853,192 (GRCm39) missense probably damaging 1.00
R7052:Nup153 UTSW 13 46,840,949 (GRCm39) missense probably benign 0.09
R7091:Nup153 UTSW 13 46,837,404 (GRCm39) missense probably benign
R7357:Nup153 UTSW 13 46,870,642 (GRCm39) missense probably benign 0.32
R7389:Nup153 UTSW 13 46,854,463 (GRCm39) critical splice donor site probably null
R7423:Nup153 UTSW 13 46,850,120 (GRCm39) critical splice donor site probably null
R7453:Nup153 UTSW 13 46,834,657 (GRCm39) missense probably damaging 1.00
R7611:Nup153 UTSW 13 46,840,798 (GRCm39) missense probably benign 0.01
R7876:Nup153 UTSW 13 46,835,084 (GRCm39) missense probably benign
R7909:Nup153 UTSW 13 46,847,056 (GRCm39) missense probably damaging 1.00
R7938:Nup153 UTSW 13 46,842,855 (GRCm39) splice site probably null
R8735:Nup153 UTSW 13 46,881,027 (GRCm39) start gained probably benign
R8804:Nup153 UTSW 13 46,840,635 (GRCm39) missense probably benign 0.04
R8916:Nup153 UTSW 13 46,863,462 (GRCm39) nonsense probably null
R9025:Nup153 UTSW 13 46,837,709 (GRCm39) missense probably benign 0.36
R9217:Nup153 UTSW 13 46,835,138 (GRCm39) missense probably damaging 1.00
R9390:Nup153 UTSW 13 46,840,642 (GRCm39) missense probably damaging 1.00
R9701:Nup153 UTSW 13 46,840,211 (GRCm39) missense probably benign 0.01
R9714:Nup153 UTSW 13 46,866,435 (GRCm39) missense possibly damaging 0.55
Predicted Primers PCR Primer
(F):5'- ACCACTGCAAGCTTTCAGC -3'
(R):5'- GGCTTCAGAAAGTCCTGTGAC -3'

Sequencing Primer
(F):5'- TAGTTCACAACCTAGTCTAAGAGAAC -3'
(R):5'- GTGACTGCTTCCTCTTCTACCACTG -3'
Posted On 2014-09-18