Incidental Mutation 'R7938:Nup50l'
ID 648862
Institutional Source Beutler Lab
Gene Symbol Nup50l
Ensembl Gene ENSMUSG00000072878
Gene Name nucleoporin 50 like
Synonyms 1700123L14Rik
MMRRC Submission 045984-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.229) question?
Stock # R7938 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 96141484-96143186 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 96141866 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 393 (K393E)
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: K393E

PolyPhen 2 Score 0.664 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000087515
Gene: ENSMUSG00000072878
AA Change: K393E

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 0.1712 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (63/64)
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ampd2 C A 3: 107,987,432 (GRCm39) V134L probably benign Het
Bcam T G 7: 19,490,738 (GRCm39) E586D probably benign Het
Bmp7 A C 2: 172,721,283 (GRCm39) I264S probably benign Het
Casz1 G A 4: 149,028,943 (GRCm39) M1129I probably benign Het
Ccdc59 T A 10: 105,677,455 (GRCm39) N31K probably benign Het
Cfap61 A G 2: 145,887,376 (GRCm39) Y607C probably benign Het
Cnga1 T C 5: 72,761,597 (GRCm39) E639G probably benign Het
Coch T A 12: 51,643,366 (GRCm39) probably null Het
Col6a6 A C 9: 105,657,883 (GRCm39) Y776* probably null Het
Cyp1a1 T G 9: 57,609,073 (GRCm39) L318R probably damaging Het
Cyp3a16 T A 5: 145,389,666 (GRCm39) Y233F probably benign Het
Dgkz G T 2: 91,795,817 (GRCm39) R42S probably damaging Het
Dner A G 1: 84,673,218 (GRCm39) Y78H possibly damaging Het
Fat2 T C 11: 55,163,922 (GRCm39) N3111S probably damaging Het
Frmpd2 T C 14: 33,260,246 (GRCm39) S768P probably benign Het
Gm45861 T A 8: 28,071,990 (GRCm39) N1269K unknown Het
Gpr12 T A 5: 146,520,094 (GRCm39) Y276F possibly damaging Het
Hace1 C T 10: 45,562,792 (GRCm39) P769L probably benign Het
Hapln1 G A 13: 89,753,347 (GRCm39) R171H probably damaging Het
Hlx T G 1: 184,464,125 (GRCm39) T72P probably benign Het
Iqcm G T 8: 76,304,596 (GRCm39) C119F probably benign Het
Katna1 G T 10: 7,637,075 (GRCm39) A409S probably benign Het
Kcnip2 A T 19: 45,782,729 (GRCm39) I204N probably damaging Het
Kel G T 6: 41,675,310 (GRCm39) Q314K probably benign Het
Klf5 T C 14: 99,536,444 (GRCm39) V5A probably damaging Het
Lax1 A T 1: 133,607,896 (GRCm39) C282S probably benign Het
Lyar A G 5: 38,388,295 (GRCm39) T274A probably benign Het
Mboat1 A G 13: 30,415,959 (GRCm39) H306R possibly damaging Het
Morn5 A T 2: 35,947,082 (GRCm39) Y120F probably benign Het
Mrgprx2 T C 7: 48,132,240 (GRCm39) T193A probably benign Het
Myh10 T A 11: 68,583,327 (GRCm39) W8R unknown Het
Nfasc A G 1: 132,533,269 (GRCm39) V644A probably damaging Het
Nup153 G T 13: 46,842,855 (GRCm39) probably null Het
Or1o4 T A 17: 37,590,991 (GRCm39) M107L probably benign Het
Or4x6 A T 2: 89,949,173 (GRCm39) Y256* probably null Het
Or5h19 A T 16: 58,856,325 (GRCm39) Y258* probably null Het
Orc4 A T 2: 48,800,203 (GRCm39) V315E possibly damaging Het
Pcsk5 T A 19: 17,443,549 (GRCm39) probably null Het
Pif1 A G 9: 65,502,073 (GRCm39) D635G probably benign Het
Plscr4 C T 9: 92,372,843 (GRCm39) R322* probably null Het
Ppfia2 A G 10: 106,310,648 (GRCm39) T52A probably damaging Het
Ppp1r36 A T 12: 76,485,180 (GRCm39) D301V probably damaging Het
Prss46 A G 9: 110,680,500 (GRCm39) N215S probably benign Het
Qser1 A C 2: 104,619,312 (GRCm39) V410G probably damaging Het
Reln A C 5: 22,155,870 (GRCm39) N2207K probably damaging Het
Rimkla A G 4: 119,327,810 (GRCm39) V180A probably benign Het
Rpa1 CA C 11: 75,198,050 (GRCm39) probably null Het
Rsph3a G T 17: 8,165,050 (GRCm39) E137* probably null Het
Spata31f1a A G 4: 42,850,765 (GRCm39) S464P possibly damaging Het
Sqle C A 15: 59,196,315 (GRCm39) H369Q probably damaging Het
Srebf2 T A 15: 82,057,016 (GRCm39) D250E probably damaging Het
Svs3b A T 2: 164,097,567 (GRCm39) C251* probably null Het
Tdrd9 A T 12: 111,997,649 (GRCm39) N713Y possibly damaging Het
Terf2ip T C 8: 112,738,717 (GRCm39) S202P possibly damaging Het
Trank1 A G 9: 111,194,096 (GRCm39) T707A probably benign Het
Trav8-1 T G 14: 53,707,688 (GRCm39) D109E possibly damaging Het
Trem2 T A 17: 48,658,777 (GRCm39) S181T probably benign Het
Trim37 A G 11: 87,037,863 (GRCm39) N199S probably benign Het
Tshz3 T C 7: 36,468,583 (GRCm39) F191L probably damaging Het
Ubxn8 A G 8: 34,111,712 (GRCm39) M227T probably damaging Het
Uggt2 T A 14: 119,296,519 (GRCm39) I448F possibly damaging Het
Usp47 T A 7: 111,687,132 (GRCm39) L697M probably damaging Het
Vmn2r52 T C 7: 9,893,300 (GRCm39) D613G probably benign Het
Wdr81 T C 11: 75,338,828 (GRCm39) T1444A probably benign Het
Zfp423 T C 8: 88,622,304 (GRCm39) Y11C unknown Het
Zw10 T A 9: 48,982,933 (GRCm39) D521E 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
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
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'- ATTACGTTTGGGGACGGAGC -3'
(R):5'- GTGCTTTCTACTGCAAGAAGTG -3'

Sequencing Primer
(F):5'- CAAAAGAGCAGGAACTTGGC -3'
(R):5'- GCTTTCTACTGCAAGAAGTGTAAAC -3'
Posted On 2020-09-15