Incidental Mutation 'PIT4283001:Nup50l'
ID 554362
Institutional Source Beutler Lab
Gene Symbol Nup50l
Ensembl Gene ENSMUSG00000072878
Gene Name nucleoporin 50 like
Synonyms 1700123L14Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.229) question?
Stock # PIT4283001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 96141484-96143186 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 96142696 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 116 (I116T)
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 probably benign
Transcript: ENSMUST00000090061
AA Change: I116T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000087515
Gene: ENSMUSG00000072878
AA Change: I116T

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: 93.2%
  • 3x: 91.1%
  • 10x: 86.5%
  • 20x: 76.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610028H24Rik A C 10: 76,285,093 (GRCm39) M1L probably benign Het
Aacs C A 5: 125,561,719 (GRCm39) A119D probably damaging Het
Abcb1b T A 5: 8,863,693 (GRCm39) V216D probably damaging Het
Adap2 T A 11: 80,068,089 (GRCm39) L367H probably damaging Het
Adcy7 T A 8: 89,042,120 (GRCm39) M373K probably damaging Het
Arhgap31 A G 16: 38,429,354 (GRCm39) L507P probably damaging Het
Brinp3 C T 1: 146,777,161 (GRCm39) T536I probably damaging Het
Cacna1b T C 2: 24,521,953 (GRCm39) D1718G probably damaging Het
Cacna2d1 A C 5: 16,507,292 (GRCm39) Y347S probably benign Het
Carf C A 1: 60,167,161 (GRCm39) P165T probably benign Het
Cplx3 T C 9: 57,523,359 (GRCm39) E66G probably damaging Het
Dnaaf5 A G 5: 139,151,917 (GRCm39) T523A probably benign Het
Dnajc10 T C 2: 80,161,739 (GRCm39) S326P probably benign Het
Eif4enif1 A T 11: 3,184,464 (GRCm39) E528D probably damaging Het
Elp2 G A 18: 24,755,187 (GRCm39) D392N probably damaging Het
Fat1 T C 8: 45,482,577 (GRCm39) S3079P probably damaging Het
Fat1 G T 8: 45,490,244 (GRCm39) V3719F probably damaging Het
Fat3 T A 9: 15,917,897 (GRCm39) S1509C possibly damaging Het
Fcsk A G 8: 111,614,064 (GRCm39) V693A probably benign Het
Frmpd4 C T X: 166,512,030 (GRCm39) R8H possibly damaging Het
Glud1 T A 14: 34,058,129 (GRCm39) I380N probably damaging Het
Gnl2 A G 4: 124,940,099 (GRCm39) S324G probably damaging Het
Gramd1b C T 9: 40,366,752 (GRCm39) G72D probably benign Het
Gramd2b A T 18: 56,622,735 (GRCm39) E299V probably damaging Het
Grin1 C T 2: 25,187,864 (GRCm39) R544H probably damaging Het
Ifitm7 A T 16: 13,801,471 (GRCm39) V96E probably damaging Het
Lsm14b T A 2: 179,674,336 (GRCm39) M293K probably benign Het
Marf1 T A 16: 13,946,432 (GRCm39) T1230S probably benign Het
Morc2b T A 17: 33,355,042 (GRCm39) H910L probably benign Het
Mylip A G 13: 45,560,110 (GRCm39) N247S possibly damaging Het
Or4a73 T C 2: 89,420,572 (GRCm39) M296V probably benign Het
Osbpl3 T C 6: 50,323,068 (GRCm39) S264G probably benign Het
Pds5b C T 5: 150,701,774 (GRCm39) R802W probably damaging Het
Pik3cg T C 12: 32,255,864 (GRCm39) E41G probably damaging Het
Plk3 A G 4: 116,990,489 (GRCm39) I112T probably damaging Het
Pwp2 A G 10: 78,020,921 (GRCm39) M1T probably null Het
Rtel1 T C 2: 180,988,683 (GRCm39) I417T probably benign Het
Sirt1 A T 10: 63,157,565 (GRCm39) N616K probably benign Het
Sirt6 T C 10: 81,458,252 (GRCm39) S334G possibly damaging Het
Strc T C 2: 121,205,788 (GRCm39) Y827C probably damaging Het
Taf1b T C 12: 24,597,594 (GRCm39) Y385H possibly damaging Het
Tgm5 T C 2: 120,902,066 (GRCm39) E201G possibly damaging Het
Thbd G C 2: 148,249,003 (GRCm39) N288K probably benign Het
Ush2a T A 1: 188,169,064 (GRCm39) N1068K probably benign Het
Vmn2r52 T C 7: 9,904,756 (GRCm39) E361G possibly damaging Het
Vps13d T C 4: 144,835,158 (GRCm39) N2736S Het
Vwa5b1 A G 4: 138,327,574 (GRCm39) L334P probably damaging Het
Zan A G 5: 137,398,355 (GRCm39) S4226P unknown Het
Zdhhc24 T C 19: 4,928,778 (GRCm39) M1T probably null 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
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
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'- GTTGCTTTTCGATGGCAGCC -3'
(R):5'- TCCAAAGGGATTAAAAGTTTGGCTG -3'

Sequencing Primer
(F):5'- CGATGGCAGCCAAGTATTTC -3'
(R):5'- TGTGCCTTCCGGGAGAG -3'
Posted On 2019-06-07