Incidental Mutation 'R0282:Nup50l'
ID 37611
Institutional Source Beutler Lab
Gene Symbol Nup50l
Ensembl Gene ENSMUSG00000072878
Gene Name nucleoporin 50 like
Synonyms 1700123L14Rik
MMRRC Submission 038504-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.229) question?
Stock # R0282 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 96141484-96143186 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 96141797 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 416 (T416A)
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: T416A

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000087515
Gene: ENSMUSG00000072878
AA Change: T416A

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.7%
Validation Efficiency 100% (72/72)
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg3 T A 17: 57,192,169 (GRCm39) Y577* probably null Het
Afap1l2 A G 19: 56,904,653 (GRCm39) S549P possibly damaging Het
Alcam A T 16: 52,116,104 (GRCm39) C157S probably damaging Het
Aldh1a1 T C 19: 20,606,413 (GRCm39) probably benign Het
Ano8 G A 8: 71,933,258 (GRCm39) probably benign Het
Atr T C 9: 95,744,851 (GRCm39) V56A probably benign Het
Aurkc T A 7: 7,005,427 (GRCm39) probably null Het
Bnip3 T C 7: 138,499,759 (GRCm39) D76G probably damaging Het
Cbr1 A G 16: 93,407,022 (GRCm39) E246G possibly damaging Het
Ccdc157 G T 11: 4,096,708 (GRCm39) A449D probably damaging Het
Ces3b T A 8: 105,810,483 (GRCm39) V26D probably benign Het
Colgalt2 G T 1: 152,384,312 (GRCm39) A551S possibly damaging Het
Crk G T 11: 75,594,195 (GRCm39) G261C probably damaging Het
Ctbp1 A G 5: 33,408,200 (GRCm39) probably null Het
Ctnna1 G A 18: 35,377,175 (GRCm39) V572I possibly damaging Het
D430041D05Rik T C 2: 104,031,589 (GRCm39) Y1669C probably damaging Het
Dnah8 T C 17: 30,955,130 (GRCm39) F2053S probably damaging Het
Dner G A 1: 84,383,686 (GRCm39) T566M probably damaging Het
Dner A G 1: 84,423,101 (GRCm39) probably benign Het
Edrf1 T C 7: 133,245,751 (GRCm39) V223A probably benign Het
Fam169a A G 13: 97,234,223 (GRCm39) probably benign Het
Fbxl3 G A 14: 103,332,661 (GRCm39) H106Y probably damaging Het
Fiz1 A G 7: 5,012,200 (GRCm39) V106A probably benign Het
Gapvd1 T A 2: 34,578,972 (GRCm39) R654* probably null Het
Gm7589 G A 9: 59,053,288 (GRCm39) noncoding transcript Het
Ifi202b A T 1: 173,804,926 (GRCm39) S9T probably benign Het
Ipmk G C 10: 71,208,661 (GRCm39) S149T probably benign Het
Irgm2 A G 11: 58,110,345 (GRCm39) E24G probably benign Het
Itga2b A C 11: 102,351,672 (GRCm39) V551G probably damaging Het
Itgad C T 7: 127,789,150 (GRCm39) probably benign Het
Kcnh8 T A 17: 53,032,879 (GRCm39) F55L probably damaging Het
Kdr G A 5: 76,110,760 (GRCm39) probably benign Het
Krt35 T C 11: 99,986,573 (GRCm39) Y147C probably damaging Het
Lamc1 A G 1: 153,131,058 (GRCm39) F298L probably benign Het
Lrrk2 T C 15: 91,662,617 (GRCm39) probably benign Het
Matn1 T C 4: 130,673,238 (GRCm39) S69P probably damaging Het
Micall1 G T 15: 79,016,101 (GRCm39) probably benign Het
Msto1 A G 3: 88,818,884 (GRCm39) V257A possibly damaging Het
Mybpc3 G C 2: 90,954,369 (GRCm39) probably benign Het
Mycn A G 12: 12,987,314 (GRCm39) V361A probably benign Het
Myo10 A G 15: 25,793,253 (GRCm39) T1277A probably damaging Het
Myo3a T C 2: 22,250,409 (GRCm39) I92T probably benign Het
Or10g1 A G 14: 52,647,720 (GRCm39) V203A possibly damaging Het
Or2k2 A G 4: 58,785,344 (GRCm39) I126T probably damaging Het
Or4c104 G A 2: 88,586,800 (GRCm39) T73I probably damaging Het
Or56b1b T A 7: 108,164,684 (GRCm39) Q106L probably damaging Het
Otog C T 7: 45,926,917 (GRCm39) T1222I possibly damaging Het
P4ha1 C T 10: 59,172,970 (GRCm39) T23M probably damaging Het
Pld1 A T 3: 28,132,422 (GRCm39) I537F probably benign Het
Plekhn1 A G 4: 156,312,780 (GRCm39) probably benign Het
Pxdn C A 12: 30,034,439 (GRCm39) S8* probably null Het
Rnf135 A T 11: 80,084,784 (GRCm39) I186F probably damaging Het
Rock2 T C 12: 17,027,887 (GRCm39) probably benign Het
Rph3a C A 5: 121,101,973 (GRCm39) G88* probably null Het
Sarm1 G A 11: 78,365,806 (GRCm39) Q740* probably null Het
Setd1b C A 5: 123,299,080 (GRCm39) probably benign Het
Sidt1 A G 16: 44,102,249 (GRCm39) S304P possibly damaging Het
Slc2a4 A T 11: 69,837,181 (GRCm39) V85E probably damaging Het
Swi5 A G 2: 32,170,766 (GRCm39) Y54H probably damaging Het
Sycp1 A G 3: 102,823,111 (GRCm39) probably benign Het
Tarm1 T C 7: 3,546,006 (GRCm39) Y87C probably damaging Het
Tmem67 G A 4: 12,087,930 (GRCm39) T72M probably damaging Het
Tor1a A G 2: 30,857,737 (GRCm39) Y44H possibly damaging Het
Ttll5 T C 12: 86,042,827 (GRCm39) Y1128H probably benign Het
Usp40 G A 1: 87,908,680 (GRCm39) probably benign Het
Vmn2r18 A T 5: 151,508,668 (GRCm39) M152K probably benign Het
Xirp2 T A 2: 67,343,724 (GRCm39) D1988E probably damaging Het
Zfp420 A G 7: 29,575,105 (GRCm39) I442V probably benign Het
Zyx A G 6: 42,332,939 (GRCm39) E363G probably 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
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'- TGACCAAGCCAAGGAGGCTCTTAC -3'
(R):5'- CAGAAGACGAAGCTCTTAGTGCGG -3'

Sequencing Primer
(F):5'- TGGTCTTAATTGTGCTCACAAC -3'
(R):5'- GGATACTAAGTTAGGCAGCATACTCC -3'
Posted On 2013-05-23