Incidental Mutation 'R4157:Nup50l'
ID 315577
Institutional Source Beutler Lab
Gene Symbol Nup50l
Ensembl Gene ENSMUSG00000072878
Gene Name nucleoporin 50 like
Synonyms 1700123L14Rik
MMRRC Submission 041000-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.229) question?
Stock # R4157 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 96141484-96143186 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 96142264 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Serine at position 260 (W260S)
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: W260S

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000087515
Gene: ENSMUSG00000072878
AA Change: W260S

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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency 95% (52/55)
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts7 G T 9: 90,070,414 (GRCm39) R585L probably damaging Het
Adamtsl5 C T 10: 80,181,156 (GRCm39) R75Q probably null Het
Ankrd26 T A 6: 118,484,782 (GRCm39) Q1485L probably damaging Het
Apbb2 G A 5: 66,459,947 (GRCm39) R717* probably null Het
Arl6ip1 AAAATAAATAAATAAATAAATAAATA AAAATAAATAAATAAATAAATAAATAAATA 7: 117,721,122 (GRCm39) probably benign Het
Atp8b5 A G 4: 43,365,591 (GRCm39) E735G probably damaging Het
Bcl11b A T 12: 107,883,684 (GRCm39) probably null Het
C4b A G 17: 34,961,829 (GRCm39) I139T probably damaging Het
Ccpg1 C A 9: 72,919,449 (GRCm39) Q355K probably benign Het
Cdk8 A T 5: 146,236,259 (GRCm39) probably benign Het
Ctif T C 18: 75,568,341 (GRCm39) H599R probably benign Het
Degs1 A G 1: 182,110,192 (GRCm39) I26T possibly damaging Het
Dnajc4 T C 19: 6,967,208 (GRCm39) N72S probably damaging Het
Ecd A G 14: 20,374,632 (GRCm39) S503P probably damaging Het
Gm3486 G A 14: 41,208,343 (GRCm39) L123F probably benign Het
Inpp5f C T 7: 128,281,423 (GRCm39) probably benign Het
Irx4 A T 13: 73,413,662 (GRCm39) Q44L probably benign Het
Krt9 T A 11: 100,079,475 (GRCm39) Y639F unknown Het
Lgals9 C A 11: 78,863,933 (GRCm39) V71L possibly damaging Het
Mdga1 T C 17: 30,052,317 (GRCm39) N143S probably benign Het
Ndufs4 A T 13: 114,444,390 (GRCm39) S129R probably benign Het
Oog2 A G 4: 143,920,523 (GRCm39) probably benign Het
Orm2 T A 4: 63,282,222 (GRCm39) F133L probably null Het
Pasd1 T C X: 70,983,161 (GRCm39) C378R possibly damaging Het
Pidd1 A G 7: 141,021,279 (GRCm39) V333A possibly damaging Het
Ppp4r3a A G 12: 101,021,878 (GRCm39) F341L probably damaging Het
Rab11fip1 A T 8: 27,642,175 (GRCm39) S875T probably damaging Het
Rpap1 C T 2: 119,604,660 (GRCm39) R416H probably damaging Het
Rpl31-ps17 C T 12: 54,748,397 (GRCm39) noncoding transcript Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Snx22 T C 9: 65,975,493 (GRCm39) Y92C probably damaging Het
Srgn A G 10: 62,333,613 (GRCm39) F55L possibly damaging Het
Swt1 A T 1: 151,278,795 (GRCm39) V454E probably damaging Het
Tmem54 G A 4: 129,004,504 (GRCm39) R151Q probably damaging Het
Tns1 T A 1: 73,953,790 (GRCm39) N1848Y probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Top2b A G 14: 16,384,491 (GRCm38) N80S probably benign Het
Trim7 T C 11: 48,738,920 (GRCm39) V313A probably benign Het
Uaca A G 9: 60,779,035 (GRCm39) S1141G probably benign Het
Ubr3 T C 2: 69,790,013 (GRCm39) probably null Het
Utp20 A G 10: 88,597,729 (GRCm39) V121A probably benign Het
Wdr20 G A 12: 110,704,608 (GRCm39) R49H possibly damaging Het
Ylpm1 T C 12: 85,104,177 (GRCm39) probably benign Het
Zfp398 A T 6: 47,812,843 (GRCm39) T5S probably benign Het
Zfp410 G A 12: 84,374,206 (GRCm39) R181H probably damaging Het
Zfp523 C T 17: 28,421,257 (GRCm39) A367V probably benign Het
Zfp748 G A 13: 67,690,225 (GRCm39) S345L possibly damaging 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
R3708:Nup50l UTSW 6 96,142,933 (GRCm39) missense possibly damaging 0.92
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'- ACACTTCTTGCAGTAGAAAGCAC -3'
(R):5'- TCTCAGAAAGCGAGCCTAAC -3'

Sequencing Primer
(F):5'- GAAAGCACTTTCCTCCTCCTC -3'
(R):5'- CCTAACCGGGGCTTTGTTGC -3'
Posted On 2015-05-14