Incidental Mutation 'R3708:Nup50l'
ID 259438
Institutional Source Beutler Lab
Gene Symbol Nup50l
Ensembl Gene ENSMUSG00000072878
Gene Name nucleoporin 50 like
Synonyms 1700123L14Rik
MMRRC Submission 040701-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.229) question?
Stock # R3708 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 96141484-96143186 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 96142933 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 37 (T37I)
Ref Sequence ENSEMBL: ENSMUSP00000087515 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075080] [ENSMUST00000090061] [ENSMUST00000122120]
AlphaFold Q3V2K7
Predicted Effect probably benign
Transcript: ENSMUST00000075080
SMART Domains Protein: ENSMUSP00000074589
Gene: ENSMUSG00000059187

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:TAFA 40 129 3.9e-60 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000090061
AA Change: T37I

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000087515
Gene: ENSMUSG00000072878
AA Change: T37I

DomainStartEndE-ValueType
Pfam:NUP50 2 73 1.8e-15 PFAM
low complexity region 84 94 N/A INTRINSIC
RanBD 315 438 2.69e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000122120
SMART Domains Protein: ENSMUSP00000113152
Gene: ENSMUSG00000059187

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:TAFA 41 129 4e-50 PFAM
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 92.1%
Validation Efficiency 98% (51/52)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
Abcc5 G T 16: 20,190,930 (GRCm39) Q807K probably benign Het
Amfr T C 8: 94,709,948 (GRCm39) H419R probably benign Het
Atp8b2 A T 3: 89,852,459 (GRCm39) F866I probably damaging Het
Atxn7l3 G A 11: 102,182,705 (GRCm39) probably benign Het
Bcs1l A G 1: 74,629,264 (GRCm39) probably benign Het
Card11 G A 5: 140,872,890 (GRCm39) R608C probably damaging Het
Celf2 C A 2: 6,629,489 (GRCm39) K137N probably damaging Het
Cmya5 A T 13: 93,231,874 (GRCm39) Y1071* probably null Het
Cyp2d10 A G 15: 82,287,217 (GRCm39) F469L possibly damaging Het
Cyp3a41a A G 5: 145,654,733 (GRCm39) probably null Het
Dnah8 A T 17: 30,958,631 (GRCm39) I2158L probably damaging Het
Dtnb T A 12: 3,639,156 (GRCm39) probably null Het
Dync1h1 T C 12: 110,609,563 (GRCm39) F2782L probably damaging Het
Ednrb A G 14: 104,054,516 (GRCm39) Y439H probably damaging Het
Ferd3l T C 12: 33,978,748 (GRCm39) V87A probably benign Het
Gphn T A 12: 78,579,467 (GRCm39) S320T probably benign Het
Gpr39 C T 1: 125,800,349 (GRCm39) H367Y probably damaging Het
Hspa4l A T 3: 40,736,125 (GRCm39) N582I possibly damaging Het
Ighv1-85 A T 12: 115,963,836 (GRCm39) W55R probably damaging Het
Lelp1 A C 3: 92,042,714 (GRCm39) C112G unknown Het
Lrba A G 3: 86,192,331 (GRCm39) M82V possibly damaging Het
Macrod2 C A 2: 141,652,549 (GRCm39) T204K probably damaging Het
Map2 A T 1: 66,455,714 (GRCm39) probably benign Het
Ncor1 T C 11: 62,235,513 (GRCm39) K647R probably damaging Het
Nr4a3 A T 4: 48,056,699 (GRCm39) Y417F probably damaging Het
Obox7 C A 7: 14,398,122 (GRCm39) S54* probably null Het
Or2n1c A G 17: 38,519,174 (GRCm39) I13V probably benign Het
Or52r1c T G 7: 102,735,501 (GRCm39) Y254D probably damaging Het
Or8b101 T C 9: 38,020,740 (GRCm39) S253P probably damaging Het
Or9g20 T A 2: 85,630,342 (GRCm39) I91L probably benign Het
Pappa2 A T 1: 158,662,488 (GRCm39) Y1162* probably null Het
Pcdhb19 T A 18: 37,630,442 (GRCm39) I79K probably benign Het
Pi4k2a C T 19: 42,079,370 (GRCm39) Q144* probably null Het
Pigc T A 1: 161,798,663 (GRCm39) M215K probably benign Het
Pnma8a T A 7: 16,694,150 (GRCm39) S2T probably damaging Het
Ppfia4 T C 1: 134,237,398 (GRCm39) E967G probably damaging Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Rims3 A G 4: 120,740,352 (GRCm39) T100A probably damaging Het
Serpinb9 A T 13: 33,192,002 (GRCm39) N61I possibly damaging Het
Sis A G 3: 72,850,856 (GRCm39) M614T probably benign Het
Slc6a17 C T 3: 107,400,401 (GRCm39) V243I probably benign Het
Smad9 A T 3: 54,693,602 (GRCm39) Y177F probably benign Het
Vmn2r69 T C 7: 85,061,029 (GRCm39) D185G probably damaging Het
Vps36 G T 8: 22,682,899 (GRCm39) V5L probably benign Het
Vwa8 T A 14: 79,300,136 (GRCm39) probably benign Het
Other mutations in Nup50l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01656:Nup50l APN 6 96,142,675 (GRCm39) missense possibly damaging 0.48
IGL02347:Nup50l APN 6 96,142,511 (GRCm39) missense probably damaging 1.00
IGL02532:Nup50l APN 6 96,141,771 (GRCm39) missense probably damaging 0.99
PIT4283001:Nup50l UTSW 6 96,142,696 (GRCm39) missense probably benign
R0282:Nup50l UTSW 6 96,141,797 (GRCm39) missense probably benign 0.02
R0946:Nup50l UTSW 6 96,142,677 (GRCm39) missense possibly damaging 0.68
R1275:Nup50l UTSW 6 96,142,099 (GRCm39) missense probably benign 0.03
R1605:Nup50l UTSW 6 96,141,793 (GRCm39) missense probably benign 0.34
R1610:Nup50l UTSW 6 96,142,270 (GRCm39) missense probably damaging 0.98
R1959:Nup50l UTSW 6 96,142,250 (GRCm39) missense possibly damaging 0.73
R1961:Nup50l UTSW 6 96,142,250 (GRCm39) missense possibly damaging 0.73
R2116:Nup50l UTSW 6 96,141,841 (GRCm39) missense probably damaging 0.99
R4157:Nup50l UTSW 6 96,142,264 (GRCm39) missense possibly damaging 0.86
R4285:Nup50l UTSW 6 96,142,733 (GRCm39) missense probably benign 0.07
R4571:Nup50l UTSW 6 96,141,862 (GRCm39) missense probably damaging 1.00
R4884:Nup50l UTSW 6 96,141,793 (GRCm39) missense probably damaging 1.00
R4905:Nup50l UTSW 6 96,142,911 (GRCm39) missense possibly damaging 0.77
R6454:Nup50l UTSW 6 96,142,609 (GRCm39) missense possibly damaging 0.75
R6755:Nup50l UTSW 6 96,141,953 (GRCm39) missense probably benign 0.06
R6790:Nup50l UTSW 6 96,142,304 (GRCm39) missense probably benign
R6792:Nup50l UTSW 6 96,142,096 (GRCm39) missense possibly damaging 0.92
R6931:Nup50l UTSW 6 96,142,529 (GRCm39) missense possibly damaging 0.86
R7081:Nup50l UTSW 6 96,142,798 (GRCm39) missense possibly damaging 0.68
R7194:Nup50l UTSW 6 96,141,756 (GRCm39) missense probably benign 0.04
R7584:Nup50l UTSW 6 96,142,373 (GRCm39) missense probably benign 0.41
R7938:Nup50l UTSW 6 96,141,866 (GRCm39) missense possibly damaging 0.66
R7983:Nup50l UTSW 6 96,142,888 (GRCm39) missense probably damaging 0.96
R8052:Nup50l UTSW 6 96,142,084 (GRCm39) intron probably benign
R8052:Nup50l UTSW 6 96,142,078 (GRCm39) intron probably benign
R8303:Nup50l UTSW 6 96,142,702 (GRCm39) missense probably benign 0.41
R8351:Nup50l UTSW 6 96,142,655 (GRCm39) missense probably benign 0.12
R8785:Nup50l UTSW 6 96,141,871 (GRCm39) missense possibly damaging 0.87
R8827:Nup50l UTSW 6 96,142,293 (GRCm39) missense probably benign 0.00
R9280:Nup50l UTSW 6 96,141,982 (GRCm39) missense probably damaging 1.00
R9403:Nup50l UTSW 6 96,142,280 (GRCm39) missense probably benign 0.01
R9470:Nup50l UTSW 6 96,142,474 (GRCm39) missense possibly damaging 0.56
R9600:Nup50l UTSW 6 96,142,156 (GRCm39) missense possibly damaging 0.84
Predicted Primers PCR Primer
(F):5'- TTGCAGTAACAGAACCCAAGG -3'
(R):5'- TGCTGACCACCAAATCTCTC -3'

Sequencing Primer
(F):5'- CTTGGGCTCTGCTGCAG -3'
(R):5'- TCTCTCCAGGCTCCCAATAGAG -3'
Posted On 2015-01-23