Incidental Mutation 'R7876:Nup153'
ID 608455
Institutional Source Beutler Lab
Gene Symbol Nup153
Ensembl Gene ENSMUSG00000021374
Gene Name nucleoporin 153
Synonyms B130015D15Rik
MMRRC Submission 045928-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.936) question?
Stock # R7876 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 46833381-46881416 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 46835084 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 1407 (S1407N)
Ref Sequence ENSEMBL: ENSMUSP00000021803 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021803] [ENSMUST00000099547]
AlphaFold E9Q3G8
Predicted Effect probably benign
Transcript: ENSMUST00000021803
AA Change: S1407N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000021803
Gene: ENSMUSG00000021374
AA Change: S1407N

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 probably benign
Transcript: ENSMUST00000099547
SMART Domains Protein: ENSMUSP00000097144
Gene: ENSMUSG00000069237

DomainStartEndE-ValueType
low complexity region 31 56 N/A INTRINSIC
low complexity region 125 156 N/A INTRINSIC
low complexity region 168 190 N/A INTRINSIC
Pfam:RDD 229 389 2.9e-13 PFAM
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (56/56)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr2a A G 2: 48,760,439 (GRCm39) K65R probably benign Het
Adprhl1 T C 8: 13,273,509 (GRCm39) D1083G probably benign Het
Aox1 C T 1: 58,101,330 (GRCm39) Q434* probably null Het
Atp13a5 T A 16: 29,140,566 (GRCm39) N330I possibly damaging Het
Brd8 A G 18: 34,739,740 (GRCm39) F678L probably benign Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
C87436 T A 6: 86,423,411 (GRCm39) probably null Het
Cacna1h A T 17: 25,594,225 (GRCm39) I2311K probably benign Het
Ccng2 C G 5: 93,421,202 (GRCm39) S237R probably benign Het
Cux1 T C 5: 136,392,161 (GRCm39) T187A probably benign Het
Dip2b A G 15: 100,088,922 (GRCm39) I1031V probably benign Het
Efna5 T C 17: 62,957,929 (GRCm39) N109S possibly damaging Het
Fat2 A T 11: 55,202,046 (GRCm39) S343T probably benign Het
Fubp1 T C 3: 151,937,928 (GRCm39) Y654H unknown Het
Gbe1 G A 16: 70,238,059 (GRCm39) V282I probably benign Het
Grik1 T C 16: 87,720,121 (GRCm39) K719E Het
Grm6 A T 11: 50,750,457 (GRCm39) Y540F probably damaging Het
Hmcn1 C T 1: 150,620,722 (GRCm39) V1163I probably benign Het
Igkv4-53 T A 6: 69,625,987 (GRCm39) Q60L possibly damaging Het
Igkv4-59 A T 6: 69,415,337 (GRCm39) S73T probably damaging Het
Il1a A C 2: 129,142,762 (GRCm39) W228G probably damaging Het
Klk13 A G 7: 43,370,403 (GRCm39) D22G probably benign Het
Kntc1 T A 5: 123,913,850 (GRCm39) C602S probably damaging Het
Kras T C 6: 145,170,848 (GRCm39) K176E probably benign Het
Krtap5-4 G A 7: 141,857,585 (GRCm39) C85Y unknown Het
Map3k13 A G 16: 21,741,069 (GRCm39) T799A probably benign Het
Mfhas1 T C 8: 36,056,697 (GRCm39) Y391H probably damaging Het
Morf4l1 G A 9: 89,975,859 (GRCm39) A311V possibly damaging Het
Ms4a8a T A 19: 11,056,848 (GRCm39) Q78L probably damaging Het
Muc5ac G C 7: 141,363,040 (GRCm39) G2117A unknown Het
Nav3 T C 10: 109,689,359 (GRCm39) N306S probably benign Het
Ncapd3 T C 9: 26,956,519 (GRCm39) probably null Het
Nrg2 T A 18: 36,330,140 (GRCm39) Y25F unknown Het
Or2c1 T A 16: 3,656,658 (GRCm39) probably null Het
Or4c99 A G 2: 88,329,999 (GRCm39) Y190C probably damaging Het
Or5b123 A G 19: 13,596,628 (GRCm39) Y34C probably damaging Het
Pcf11 A C 7: 92,310,534 (GRCm39) S485A probably damaging Het
Pde8a A G 7: 80,973,819 (GRCm39) D592G probably damaging Het
Perm1 G A 4: 156,302,046 (GRCm39) G197R probably damaging Het
Pigo A T 4: 43,020,671 (GRCm39) M757K probably benign Het
Pls1 G A 9: 95,667,558 (GRCm39) Q117* probably null Het
Plscr2 T C 9: 92,169,781 (GRCm39) V77A probably benign Het
Polm T C 11: 5,781,695 (GRCm39) E267G probably benign Het
Pomgnt1 A T 4: 116,015,106 (GRCm39) K519M probably damaging Het
Ralyl G A 3: 14,104,850 (GRCm39) probably null Het
Rhbdd3 C T 11: 5,055,832 (GRCm39) T338I possibly damaging Het
Rnf31 T C 14: 55,830,534 (GRCm39) probably null Het
Slc51a A T 16: 32,297,601 (GRCm39) S99T probably benign Het
Sorbs1 A T 19: 40,285,032 (GRCm39) L700H probably damaging Het
Tdrd7 G A 4: 46,025,684 (GRCm39) V835I probably benign Het
Tmcc3 T C 10: 94,414,397 (GRCm39) V64A probably benign Het
Tmprss5 A G 9: 49,020,391 (GRCm39) S140G probably benign Het
Tspan11 G T 6: 127,900,629 (GRCm39) V67F possibly damaging Het
Usp42 T C 5: 143,707,426 (GRCm39) T252A probably damaging Het
Vmn2r97 A T 17: 19,149,326 (GRCm39) E238V probably damaging Het
Wdpcp T A 11: 21,661,486 (GRCm39) W253R probably benign Het
Zdhhc23 A T 16: 43,789,663 (GRCm39) V375E probably damaging Het
Zkscan5 A C 5: 145,157,676 (GRCm39) H726P probably damaging Het
Zmym1 A T 4: 126,941,496 (GRCm39) M964K 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
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
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'- TGTGACACAATGCCCAAGACAG -3'
(R):5'- ACCCACGTTTAATATTTCCAGGTC -3'

Sequencing Primer
(F):5'- GAGGACTCATACCATTTAAAATGACC -3'
(R):5'- TTTCCAGGTCAGAGTGAATCC -3'
Posted On 2019-12-20