Incidental Mutation 'R2173:Nup153'
ID 237641
Institutional Source Beutler Lab
Gene Symbol Nup153
Ensembl Gene ENSMUSG00000021374
Gene Name nucleoporin 153
Synonyms B130015D15Rik
MMRRC Submission 040175-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.936) question?
Stock # R2173 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 46833381-46881416 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 46855076 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000021803]
AlphaFold E9Q3G8
Predicted Effect probably benign
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: ENSMUST00000182358
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224186
Predicted Effect probably benign
Transcript: ENSMUST00000225894
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 97% (66/68)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk1 T A 3: 127,477,239 (GRCm39) H273L probably damaging Het
Alpk3 A G 7: 80,726,648 (GRCm39) Y111C probably damaging Het
Anapc2 T G 2: 25,163,288 (GRCm39) V175G probably benign Het
Arhgap30 T C 1: 171,235,335 (GRCm39) S570P probably damaging Het
AU040320 T C 4: 126,686,069 (GRCm39) L215P probably benign Het
Ccdc59 A T 10: 105,677,388 (GRCm39) K9M possibly damaging Het
Ccdc65 A G 15: 98,618,914 (GRCm39) N298D probably benign Het
Cfap70 T A 14: 20,458,630 (GRCm39) N727Y probably benign Het
Clcn7 A G 17: 25,364,583 (GRCm39) H63R probably benign Het
Corin A T 5: 72,661,422 (GRCm39) C24S probably benign Het
Cyp1a2 A G 9: 57,584,798 (GRCm39) W419R probably damaging Het
Dlgap4 C A 2: 156,604,732 (GRCm39) A256D probably damaging Het
Eif4enif1 A G 11: 3,192,367 (GRCm39) probably null Het
Eri2 A G 7: 119,385,766 (GRCm39) V245A possibly damaging Het
Erich6b T C 14: 75,896,332 (GRCm39) F73L probably benign Het
Fam110a A G 2: 151,812,429 (GRCm39) C114R probably damaging Het
Fam149a T C 8: 45,806,991 (GRCm39) D288G probably damaging Het
Fam171a1 T A 2: 3,226,656 (GRCm39) Y596* probably null Het
Fsd1 A G 17: 56,298,223 (GRCm39) T183A possibly damaging Het
Fut10 T A 8: 31,726,159 (GRCm39) Y305N probably damaging Het
Ganab A T 19: 8,879,624 (GRCm39) probably benign Het
Gm9922 G T 14: 101,967,012 (GRCm39) probably benign Het
Gp9 A G 6: 87,756,035 (GRCm39) T17A probably benign Het
Gxylt2 T C 6: 100,775,115 (GRCm39) Y345H probably damaging Het
Herc2 A G 7: 55,835,699 (GRCm39) H3269R probably benign Het
Hpx A T 7: 105,241,290 (GRCm39) S374T probably benign Het
Hspa5 T C 2: 34,664,674 (GRCm39) V376A probably damaging Het
Hyi T C 4: 118,219,381 (GRCm39) probably benign Het
Impdh2 G A 9: 108,442,593 (GRCm39) probably null Het
Kremen2 A C 17: 23,961,770 (GRCm39) W246G probably damaging Het
Krt87 A G 15: 101,385,818 (GRCm39) V259A probably damaging Het
L3mbtl4 A T 17: 68,894,188 (GRCm39) H398L probably damaging Het
Lama5 C A 2: 179,838,035 (GRCm39) V894L probably benign Het
Maml2 A G 9: 13,532,912 (GRCm39) probably benign Het
Or10g6 T G 9: 39,934,550 (GRCm39) I287S probably damaging Het
Or2y15 G T 11: 49,350,967 (GRCm39) V154L probably benign Het
Or5k14 A G 16: 58,692,982 (GRCm39) F177S probably damaging Het
Or8b3b T C 9: 38,584,240 (GRCm39) I180V probably benign Het
Or9r7 G A 10: 129,962,372 (GRCm39) P185S probably benign Het
Otof C T 5: 30,543,718 (GRCm39) R582H probably damaging Het
Otud4 T C 8: 80,395,093 (GRCm39) S543P probably damaging Het
Pde6a A G 18: 61,387,453 (GRCm39) D448G probably damaging Het
Phgdh A G 3: 98,222,427 (GRCm39) V388A probably benign Het
Plin3 G T 17: 56,586,891 (GRCm39) D385E possibly damaging Het
Polg G T 7: 79,105,341 (GRCm39) D734E probably damaging Het
Pomt1 T C 2: 32,140,912 (GRCm39) Y515H probably damaging Het
Prr35 A C 17: 26,167,461 (GRCm39) H25Q probably damaging Het
Pwwp2a G A 11: 43,573,313 (GRCm39) A132T probably benign Het
Rbm6 A T 9: 107,729,390 (GRCm39) F419L possibly damaging Het
Rfx5 A G 3: 94,864,027 (GRCm39) probably null Het
Rnf135 G A 11: 80,080,066 (GRCm39) S119N probably benign Het
Scfd1 T A 12: 51,433,862 (GRCm39) D51E probably benign Het
Smox A T 2: 131,353,944 (GRCm39) E5D possibly damaging Het
Srpk2 T C 5: 23,723,613 (GRCm39) probably null Het
Syne2 T A 12: 76,147,763 (GRCm39) probably benign Het
Tcf20 A G 15: 82,738,893 (GRCm39) S853P possibly damaging Het
Tmem131l A G 3: 83,833,452 (GRCm39) F804L probably damaging Het
Ttll8 A G 15: 88,798,800 (GRCm39) L645P probably damaging Het
Ubr3 T A 2: 69,727,743 (GRCm39) H35Q probably benign Het
Uck1 GCCAACACC GCC 2: 32,146,088 (GRCm39) probably benign Het
Vmn2r70 A T 7: 85,214,290 (GRCm39) H287Q probably benign Het
Vps26a A T 10: 62,304,171 (GRCm39) I150N probably damaging Het
Zfp605 G A 5: 110,275,323 (GRCm39) R147H probably benign Het
Zfyve16 A G 13: 92,631,596 (GRCm39) M1333T probably damaging 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
R2108:Nup153 UTSW 13 46,846,986 (GRCm39) critical splice donor site probably null
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
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'- AGATGGGCTTCTTCAACATGAG -3'
(R):5'- GCATGGGGCCTACTTTCTTC -3'

Sequencing Primer
(F):5'- TGGGCTTCTTCAACATGAGAAAAGC -3'
(R):5'- GCATGACATGAAAGATGACATCC -3'
Posted On 2014-10-02