Incidental Mutation 'R1457:Nup210l'
ID 158548
Institutional Source Beutler Lab
Gene Symbol Nup210l
Ensembl Gene ENSMUSG00000027939
Gene Name nucleoporin 210-like
Synonyms 4930548O11Rik, R26-EGFP, Tg(Gt(ROSA)26Sor-EGFP)130910Eps
MMRRC Submission 039512-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.452) question?
Stock # R1457 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 90104132-90212048 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 90190972 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 1410 (N1410K)
Ref Sequence ENSEMBL: ENSMUSP00000143368 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029548] [ENSMUST00000200410]
AlphaFold Q9D2F7
Predicted Effect possibly damaging
Transcript: ENSMUST00000029548
AA Change: N1410K

PolyPhen 2 Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000029548
Gene: ENSMUSG00000027939
AA Change: N1410K

DomainStartEndE-ValueType
transmembrane domain 13 32 N/A INTRINSIC
BID_2 457 536 2.05e1 SMART
Blast:S1 949 1023 2e-16 BLAST
BID_2 1077 1152 4.51e-11 SMART
Blast:BID_2 1468 1550 7e-15 BLAST
transmembrane domain 1807 1829 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000200410
AA Change: N1410K

PolyPhen 2 Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000143368
Gene: ENSMUSG00000027939
AA Change: N1410K

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
BID_2 457 536 6.9e-2 SMART
Blast:S1 938 1023 9e-17 BLAST
BID_2 1077 1152 1.5e-13 SMART
Blast:BID_2 1468 1550 7e-15 BLAST
transmembrane domain 1807 1829 N/A INTRINSIC
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.7%
  • 20x: 87.3%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a transgene insertion exhibit male infertility, asthenozoospermia, teratozoospermia, azoospermia, and seminiferous tubule degeneration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A T 7: 120,289,460 (GRCm38) I1210F probably benign Het
Ankrd17 T C 5: 90,285,846 (GRCm38) H688R possibly damaging Het
Arhgap24 T A 5: 102,664,106 (GRCm38) N66K probably damaging Het
Atp1a1 C T 3: 101,590,466 (GRCm38) G335D probably damaging Het
Cacna1g C T 11: 94,459,555 (GRCm38) R488H possibly damaging Het
Cacna1h A T 17: 25,397,620 (GRCm38) V149E probably damaging Het
Cd22 G T 7: 30,873,170 (GRCm38) P338Q probably benign Het
Cntln G T 4: 85,096,839 (GRCm38) M1122I probably benign Het
Cntrl A G 2: 35,122,756 (GRCm38) N302S probably benign Het
Cog8 T C 8: 107,052,896 (GRCm38) R250G probably damaging Het
Cracdl A T 1: 37,626,012 (GRCm38) Y268* probably null Het
Creld2 T C 15: 88,823,753 (GRCm38) C232R probably damaging Het
Cyp2b23 G A 7: 26,673,149 (GRCm38) P347L probably damaging Het
Dnah5 T C 15: 28,403,542 (GRCm38) probably null Het
Eml6 C T 11: 30,024,459 (GRCm38) V40I probably damaging Het
Epb42 C T 2: 121,029,967 (GRCm38) probably null Het
Fcrla A G 1: 170,921,004 (GRCm38) L190P probably damaging Het
Galnt18 A T 7: 111,779,428 (GRCm38) Y40* probably null Het
Gdf7 A T 12: 8,298,073 (GRCm38) M416K probably damaging Het
Gm11232 T A 4: 71,756,919 (GRCm38) probably null Het
Gpam T A 19: 55,088,176 (GRCm38) N198Y probably damaging Het
Grip1 C T 10: 119,986,350 (GRCm38) S327F possibly damaging Het
Hey2 C T 10: 30,834,356 (GRCm38) A134T probably benign Het
Kat6a T C 8: 22,938,652 (GRCm38) I1341T probably benign Het
Kcnd3 T C 3: 105,668,186 (GRCm38) L542P probably benign Het
Lars1 G A 18: 42,210,050 (GRCm38) R1101C probably damaging Het
Lman2 T C 13: 55,351,251 (GRCm38) D234G probably benign Het
Map3k19 A C 1: 127,817,898 (GRCm38) I1273R probably damaging Het
Matn1 T A 4: 130,950,019 (GRCm38) F180I possibly damaging Het
Meikin T A 11: 54,370,941 (GRCm38) L61* probably null Het
Mroh2b G T 15: 4,925,684 (GRCm38) D720Y probably damaging Het
Myh13 T C 11: 67,331,046 (GRCm38) I199T probably damaging Het
Myh4 T A 11: 67,248,461 (GRCm38) S535T probably damaging Het
Myo5a T C 9: 75,213,065 (GRCm38) M1715T probably damaging Het
Nat8 A T 6: 85,830,989 (GRCm38) V54D probably damaging Het
Nbea A G 3: 56,085,327 (GRCm38) V286A probably damaging Het
Ndnf A G 6: 65,704,014 (GRCm38) K426E possibly damaging Het
Oca2 A T 7: 56,321,521 (GRCm38) T399S probably damaging Het
Or10al2 A T 17: 37,672,925 (GRCm38) K301* probably null Het
Or1af1 A C 2: 37,219,659 (GRCm38) T57P possibly damaging Het
Or51a43 A T 7: 104,068,459 (GRCm38) C191S probably damaging Het
Or52h7 T A 7: 104,565,071 (GRCm38) N283K probably damaging Het
Or8c10 G A 9: 38,368,196 (GRCm38) V217I probably benign Het
Or8j3 A G 2: 86,198,252 (GRCm38) S167P probably damaging Het
Otogl A C 10: 107,878,152 (GRCm38) probably null Het
Pde4b C T 4: 102,605,176 (GRCm38) T511I probably damaging Het
Proser3 A G 7: 30,539,747 (GRCm38) probably null Het
Psmd12 G A 11: 107,479,646 (GRCm38) V24M probably damaging Het
Rbm17 A T 2: 11,593,461 (GRCm38) M170K probably benign Het
Rims2 C T 15: 39,511,314 (GRCm38) T1064I possibly damaging Het
Ripor3 C T 2: 167,992,653 (GRCm38) V281M probably damaging Het
Rreb1 C A 13: 37,946,928 (GRCm38) Q1353K possibly damaging Het
Sgo2a A G 1: 58,015,806 (GRCm38) D383G probably benign Het
Sik3 C T 9: 46,221,148 (GRCm38) T1346M probably damaging Het
Slx1b A T 7: 126,692,796 (GRCm38) V63E probably damaging Het
Son A G 16: 91,657,086 (GRCm38) D907G probably damaging Het
Src G A 2: 157,469,212 (GRCm38) V401M probably damaging Het
St3gal4 T C 9: 35,054,757 (GRCm38) K24E possibly damaging Het
Stat6 A G 10: 127,658,245 (GRCm38) K647R probably damaging Het
Tbl1xr1 G A 3: 22,193,169 (GRCm38) probably null Het
Tlk2 G A 11: 105,256,952 (GRCm38) probably null Het
Tmbim6 T A 15: 99,401,615 (GRCm38) I3K probably benign Het
Tmeff2 A T 1: 51,181,867 (GRCm38) I334F probably damaging Het
Ttn T C 2: 76,840,315 (GRCm38) probably null Het
Ubl7 T A 9: 57,914,611 (GRCm38) I81N probably damaging Het
Ugt1a10 A G 1: 88,055,711 (GRCm38) Y77C probably damaging Het
Uqcrfs1 A G 13: 30,540,907 (GRCm38) C217R probably damaging Het
Usp50 T C 2: 126,761,634 (GRCm38) T331A probably benign Het
Vmn1r65 A G 7: 6,009,157 (GRCm38) V26A probably benign Het
Wdfy3 A C 5: 101,917,579 (GRCm38) V1241G possibly damaging Het
Wtap A C 17: 12,981,744 (GRCm38) probably null Het
Zbtb40 C A 4: 136,984,837 (GRCm38) A1187S possibly damaging Het
Zfp57 T C 17: 37,006,098 (GRCm38) S20P probably damaging Het
Zfp592 A G 7: 81,024,479 (GRCm38) D397G probably damaging Het
Zfp747 A T 7: 127,374,504 (GRCm38) S165T probably benign Het
Zfp949 C T 9: 88,569,838 (GRCm38) T487I probably damaging Het
Zscan4d A G 7: 11,164,994 (GRCm38) C119R probably damaging Het
Other mutations in Nup210l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00780:Nup210l APN 3 90,190,849 (GRCm38) splice site probably benign
IGL00813:Nup210l APN 3 90,132,418 (GRCm38) missense probably benign 0.00
IGL01375:Nup210l APN 3 90,159,893 (GRCm38) missense probably damaging 0.96
IGL01731:Nup210l APN 3 90,154,566 (GRCm38) missense probably damaging 1.00
IGL01786:Nup210l APN 3 90,122,776 (GRCm38) nonsense probably null
IGL01958:Nup210l APN 3 90,203,924 (GRCm38) missense possibly damaging 0.74
IGL02094:Nup210l APN 3 90,180,213 (GRCm38) critical splice donor site probably null
IGL02120:Nup210l APN 3 90,136,862 (GRCm38) missense probably damaging 1.00
IGL02313:Nup210l APN 3 90,122,792 (GRCm38) missense probably damaging 1.00
IGL02336:Nup210l APN 3 90,181,552 (GRCm38) critical splice donor site probably null
IGL02348:Nup210l APN 3 90,104,164 (GRCm38) utr 5 prime probably benign
IGL02372:Nup210l APN 3 90,201,971 (GRCm38) missense possibly damaging 0.80
IGL02557:Nup210l APN 3 90,124,230 (GRCm38) missense probably damaging 1.00
IGL02559:Nup210l APN 3 90,159,953 (GRCm38) missense probably benign 0.02
IGL02738:Nup210l APN 3 90,136,850 (GRCm38) missense possibly damaging 0.80
IGL03231:Nup210l APN 3 90,189,545 (GRCm38) missense probably damaging 1.00
IGL03257:Nup210l APN 3 90,180,148 (GRCm38) critical splice acceptor site probably null
IGL03388:Nup210l APN 3 90,170,044 (GRCm38) missense probably damaging 1.00
IGL03134:Nup210l UTSW 3 90,190,887 (GRCm38) missense possibly damaging 0.85
R0003:Nup210l UTSW 3 90,119,911 (GRCm38) missense probably damaging 1.00
R0040:Nup210l UTSW 3 90,181,905 (GRCm38) missense probably damaging 1.00
R0083:Nup210l UTSW 3 90,189,575 (GRCm38) missense probably damaging 1.00
R0090:Nup210l UTSW 3 90,211,779 (GRCm38) missense probably benign 0.00
R0108:Nup210l UTSW 3 90,189,575 (GRCm38) missense probably damaging 1.00
R0142:Nup210l UTSW 3 90,172,113 (GRCm38) missense probably damaging 1.00
R0306:Nup210l UTSW 3 90,207,368 (GRCm38) missense probably benign 0.13
R0332:Nup210l UTSW 3 90,132,309 (GRCm38) splice site probably benign
R0346:Nup210l UTSW 3 90,189,438 (GRCm38) missense probably damaging 1.00
R0463:Nup210l UTSW 3 90,180,211 (GRCm38) missense probably null 1.00
R0622:Nup210l UTSW 3 90,167,740 (GRCm38) missense probably damaging 0.98
R0765:Nup210l UTSW 3 90,119,877 (GRCm38) missense probably damaging 0.99
R0990:Nup210l UTSW 3 90,211,925 (GRCm38) missense probably benign 0.00
R1014:Nup210l UTSW 3 90,170,048 (GRCm38) missense possibly damaging 0.62
R1036:Nup210l UTSW 3 90,192,940 (GRCm38) splice site probably benign
R1177:Nup210l UTSW 3 90,202,003 (GRCm38) missense probably benign 0.11
R1183:Nup210l UTSW 3 90,159,945 (GRCm38) missense probably benign 0.04
R1188:Nup210l UTSW 3 90,198,179 (GRCm38) missense probably benign 0.16
R1471:Nup210l UTSW 3 90,170,562 (GRCm38) missense probably benign
R1627:Nup210l UTSW 3 90,144,169 (GRCm38) missense probably benign 0.15
R1778:Nup210l UTSW 3 90,189,486 (GRCm38) missense probably damaging 0.99
R1827:Nup210l UTSW 3 90,154,557 (GRCm38) missense probably damaging 1.00
R1843:Nup210l UTSW 3 90,172,086 (GRCm38) missense probably damaging 0.96
R1858:Nup210l UTSW 3 90,154,499 (GRCm38) missense probably damaging 0.97
R1942:Nup210l UTSW 3 90,151,237 (GRCm38) missense probably benign 0.01
R2015:Nup210l UTSW 3 90,185,432 (GRCm38) missense probably damaging 1.00
R2113:Nup210l UTSW 3 90,190,974 (GRCm38) missense possibly damaging 0.48
R2944:Nup210l UTSW 3 90,181,545 (GRCm38) missense probably damaging 1.00
R3736:Nup210l UTSW 3 90,120,013 (GRCm38) missense probably damaging 1.00
R3740:Nup210l UTSW 3 90,207,394 (GRCm38) missense probably benign 0.08
R3741:Nup210l UTSW 3 90,207,394 (GRCm38) missense probably benign 0.08
R3742:Nup210l UTSW 3 90,207,394 (GRCm38) missense probably benign 0.08
R3771:Nup210l UTSW 3 90,119,894 (GRCm38) nonsense probably null
R3773:Nup210l UTSW 3 90,119,894 (GRCm38) nonsense probably null
R3879:Nup210l UTSW 3 90,185,473 (GRCm38) missense probably damaging 1.00
R3882:Nup210l UTSW 3 90,124,210 (GRCm38) missense probably benign 0.19
R3953:Nup210l UTSW 3 90,193,054 (GRCm38) missense possibly damaging 0.89
R3954:Nup210l UTSW 3 90,193,054 (GRCm38) missense possibly damaging 0.89
R3955:Nup210l UTSW 3 90,193,054 (GRCm38) missense possibly damaging 0.89
R3956:Nup210l UTSW 3 90,193,054 (GRCm38) missense possibly damaging 0.89
R4200:Nup210l UTSW 3 90,119,911 (GRCm38) missense probably damaging 1.00
R4290:Nup210l UTSW 3 90,207,326 (GRCm38) missense probably benign 0.00
R4328:Nup210l UTSW 3 90,175,835 (GRCm38) splice site probably null
R4629:Nup210l UTSW 3 90,190,874 (GRCm38) nonsense probably null
R4629:Nup210l UTSW 3 90,167,875 (GRCm38) missense probably benign 0.21
R4897:Nup210l UTSW 3 90,193,071 (GRCm38) missense probably damaging 1.00
R4906:Nup210l UTSW 3 90,170,030 (GRCm38) missense probably benign 0.06
R4966:Nup210l UTSW 3 90,106,901 (GRCm38) missense probably benign 0.00
R5004:Nup210l UTSW 3 90,180,165 (GRCm38) nonsense probably null
R5237:Nup210l UTSW 3 90,180,198 (GRCm38) missense probably benign 0.00
R5499:Nup210l UTSW 3 90,174,370 (GRCm38) missense probably damaging 1.00
R5522:Nup210l UTSW 3 90,154,665 (GRCm38) missense probably benign 0.10
R5627:Nup210l UTSW 3 90,144,250 (GRCm38) missense probably damaging 0.97
R5678:Nup210l UTSW 3 90,190,959 (GRCm38) missense probably damaging 0.99
R5726:Nup210l UTSW 3 90,129,207 (GRCm38) splice site probably null
R5792:Nup210l UTSW 3 90,199,857 (GRCm38) missense probably damaging 1.00
R6129:Nup210l UTSW 3 90,104,176 (GRCm38) missense probably benign 0.00
R6272:Nup210l UTSW 3 90,170,024 (GRCm38) missense possibly damaging 0.57
R6290:Nup210l UTSW 3 90,119,909 (GRCm38) nonsense probably null
R6293:Nup210l UTSW 3 90,115,064 (GRCm38) missense probably damaging 1.00
R6446:Nup210l UTSW 3 90,172,068 (GRCm38) missense probably damaging 1.00
R6698:Nup210l UTSW 3 90,182,508 (GRCm38) missense possibly damaging 0.57
R6855:Nup210l UTSW 3 90,136,924 (GRCm38) missense probably benign 0.01
R6895:Nup210l UTSW 3 90,159,924 (GRCm38) missense probably damaging 0.97
R6899:Nup210l UTSW 3 90,167,897 (GRCm38) missense possibly damaging 0.77
R6978:Nup210l UTSW 3 90,154,566 (GRCm38) missense possibly damaging 0.86
R6980:Nup210l UTSW 3 90,119,927 (GRCm38) missense probably benign 0.04
R7038:Nup210l UTSW 3 90,159,947 (GRCm38) missense probably damaging 1.00
R7273:Nup210l UTSW 3 90,118,547 (GRCm38) missense probably benign 0.04
R7450:Nup210l UTSW 3 90,115,188 (GRCm38) critical splice donor site probably null
R7514:Nup210l UTSW 3 90,210,459 (GRCm38) critical splice donor site probably null
R7658:Nup210l UTSW 3 90,211,993 (GRCm38) missense probably benign 0.43
R7735:Nup210l UTSW 3 90,185,576 (GRCm38) missense probably damaging 1.00
R7772:Nup210l UTSW 3 90,159,926 (GRCm38) missense probably damaging 1.00
R7800:Nup210l UTSW 3 90,134,597 (GRCm38) missense probably damaging 1.00
R7840:Nup210l UTSW 3 90,122,729 (GRCm38) missense probably benign 0.08
R7847:Nup210l UTSW 3 90,151,123 (GRCm38) missense probably benign
R7848:Nup210l UTSW 3 90,203,905 (GRCm38) missense probably benign 0.01
R8084:Nup210l UTSW 3 90,136,058 (GRCm38) missense probably benign 0.15
R8121:Nup210l UTSW 3 90,115,121 (GRCm38) missense probably damaging 1.00
R8421:Nup210l UTSW 3 90,203,867 (GRCm38) missense probably damaging 1.00
R8458:Nup210l UTSW 3 90,185,567 (GRCm38) missense probably null 1.00
R8701:Nup210l UTSW 3 90,122,814 (GRCm38) missense probably benign 0.41
R8720:Nup210l UTSW 3 90,210,374 (GRCm38) missense probably benign 0.00
R8770:Nup210l UTSW 3 90,118,543 (GRCm38) missense probably damaging 1.00
R8896:Nup210l UTSW 3 90,118,625 (GRCm38) missense probably damaging 1.00
R9033:Nup210l UTSW 3 90,198,089 (GRCm38) missense probably benign
R9371:Nup210l UTSW 3 90,199,866 (GRCm38) missense probably benign 0.01
R9373:Nup210l UTSW 3 90,199,866 (GRCm38) missense probably benign 0.01
R9381:Nup210l UTSW 3 90,199,866 (GRCm38) missense probably benign 0.01
R9426:Nup210l UTSW 3 90,199,866 (GRCm38) missense probably benign 0.01
R9427:Nup210l UTSW 3 90,199,866 (GRCm38) missense probably benign 0.01
R9501:Nup210l UTSW 3 90,199,866 (GRCm38) missense probably benign 0.01
R9523:Nup210l UTSW 3 90,199,866 (GRCm38) missense probably benign 0.01
R9574:Nup210l UTSW 3 90,210,386 (GRCm38) missense probably benign
R9612:Nup210l UTSW 3 90,199,866 (GRCm38) missense probably benign 0.01
R9654:Nup210l UTSW 3 90,199,866 (GRCm38) missense probably benign 0.01
R9660:Nup210l UTSW 3 90,199,866 (GRCm38) missense probably benign 0.01
R9660:Nup210l UTSW 3 90,198,095 (GRCm38) missense probably benign 0.30
R9662:Nup210l UTSW 3 90,199,866 (GRCm38) missense probably benign 0.01
R9682:Nup210l UTSW 3 90,144,162 (GRCm38) missense possibly damaging 0.79
R9729:Nup210l UTSW 3 90,199,866 (GRCm38) missense probably benign 0.01
R9750:Nup210l UTSW 3 90,210,352 (GRCm38) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- TGCCAGCTTGAATAATGAAGCAGCC -3'
(R):5'- AAGAGGAATCTGCTGAAACTGCCGC -3'

Sequencing Primer
(F):5'- tccccagaacccatagaagag -3'
(R):5'- TGCCGCAGAACACTGAG -3'
Posted On 2014-03-14