Incidental Mutation 'R5536:Nup153'
ID 434840
Institutional Source Beutler Lab
Gene Symbol Nup153
Ensembl Gene ENSMUSG00000021374
Gene Name nucleoporin 153
Synonyms B130015D15Rik
MMRRC Submission 043094-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.936) question?
Stock # R5536 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 46833381-46881416 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 46836485 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 1375 (T1375A)
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: T1375A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000021803
Gene: ENSMUSG00000021374
AA Change: T1375A

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182156
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182914
Predicted Effect probably benign
Transcript: ENSMUST00000224203
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.0%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik G T 3: 137,772,149 (GRCm39) G446V possibly damaging Het
Aadac T G 3: 59,946,984 (GRCm39) N227K probably benign Het
Acap1 C T 11: 69,780,133 (GRCm39) G74R probably benign Het
Adrm1 A G 2: 179,813,981 (GRCm39) probably benign Het
Appl1 G C 14: 26,645,737 (GRCm39) S691* probably null Het
Atp2a2 T C 5: 122,595,245 (GRCm39) D1035G probably benign Het
AW551984 A G 9: 39,504,169 (GRCm39) I599T probably benign Het
Col23a1 C A 11: 51,458,776 (GRCm39) D304E probably damaging Het
Csmd1 T C 8: 16,338,674 (GRCm39) R478G probably damaging Het
Dnah7a T C 1: 53,464,412 (GRCm39) N3660D probably benign Het
Drosha T A 15: 12,929,797 (GRCm39) Y1331N possibly damaging Het
E2f6 T G 12: 16,874,685 (GRCm39) S256A probably benign Het
Evc A G 5: 37,483,927 (GRCm39) probably benign Het
Fsip2 A T 2: 82,817,403 (GRCm39) I4379F probably benign Het
Galnt2 T C 8: 125,050,412 (GRCm39) C91R probably damaging Het
Gm3095 G T 14: 15,170,371 (GRCm39) M73I probably benign Het
Gpr179 T A 11: 97,234,641 (GRCm39) Q480L probably damaging Het
Gucy2g T A 19: 55,226,359 (GRCm39) I186F probably benign Het
Hmcn1 T A 1: 150,631,042 (GRCm39) I919F probably benign Het
Kdm3a A C 6: 71,588,920 (GRCm39) V363G probably benign Het
Kmt2d G A 15: 98,749,990 (GRCm39) probably benign Het
Lama5 C T 2: 179,831,142 (GRCm39) R1839H probably damaging Het
Lpo T C 11: 87,707,389 (GRCm39) D208G probably damaging Het
Lpp A G 16: 24,663,956 (GRCm39) D411G possibly damaging Het
Marco T C 1: 120,432,464 (GRCm39) S8G possibly damaging Het
Mthfr T C 4: 148,128,940 (GRCm39) F171S probably damaging Het
Nlrx1 A T 9: 44,175,183 (GRCm39) S198T probably damaging Het
Nol10 C A 12: 17,466,138 (GRCm39) S511* probably null Het
Obscn A G 11: 58,998,697 (GRCm39) S1367P probably damaging Het
Or4x6 A G 2: 89,949,183 (GRCm39) V253A probably benign Het
Pcdha7 G A 18: 37,108,303 (GRCm39) V443M probably damaging Het
Plekha1 G T 7: 130,511,331 (GRCm39) R305I probably damaging Het
Psmb2 T A 4: 126,578,002 (GRCm39) I60N probably damaging Het
Rad17 C A 13: 100,767,612 (GRCm39) G330C probably damaging Het
Slc5a6 A G 5: 31,200,446 (GRCm39) S80P probably damaging Het
Srgap2 T A 1: 131,228,128 (GRCm39) probably null Het
Taf8 C A 17: 47,805,407 (GRCm39) R164L possibly damaging Het
Tmem87a C A 2: 120,227,911 (GRCm39) D79Y probably damaging Het
Tmtc4 G A 14: 123,170,291 (GRCm39) R574W probably benign Het
Tprn G A 2: 25,153,369 (GRCm39) A224T probably benign Het
Usf3 A G 16: 44,037,733 (GRCm39) T738A probably benign Het
Vmn2r54 A C 7: 12,366,343 (GRCm39) V197G probably benign Het
Zbtb40 G T 4: 136,714,642 (GRCm39) P1049Q probably damaging Het
Zfp551 A T 7: 12,149,488 (GRCm39) S640R possibly damaging Het
Zfp932 T A 5: 110,157,713 (GRCm39) C470* probably null Het
Zkscan8 T C 13: 21,710,838 (GRCm39) I91V probably damaging Het
Zmat4 T C 8: 24,238,508 (GRCm39) V30A 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
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'- AGTGAAACGGGGTTGATCAC -3'
(R):5'- GACAAAGTCAAGGTGCCAGC -3'

Sequencing Primer
(F):5'- TTGATCACAACCCATACATAAATCAG -3'
(R):5'- AGGTGCCAGCCAGCCTAAC -3'
Posted On 2016-10-24