Incidental Mutation 'R1778:Nup210l'
ID 197207
Institutional Source Beutler Lab
Gene Symbol Nup210l
Ensembl Gene ENSMUSG00000027939
Gene Name nucleoporin 210-like
Synonyms 4930548O11Rik
MMRRC Submission 039809-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.427) question?
Stock # R1778 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 90011439-90119355 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 90096793 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 1334 (E1334G)
Ref Sequence ENSEMBL: ENSMUSP00000143368 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029548] [ENSMUST00000200410]
AlphaFold Q9D2F7
Predicted Effect probably damaging
Transcript: ENSMUST00000029548
AA Change: E1334G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000029548
Gene: ENSMUSG00000027939
AA Change: E1334G

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 probably damaging
Transcript: ENSMUST00000200410
AA Change: E1334G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000143368
Gene: ENSMUSG00000027939
AA Change: E1334G

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
Meta Mutation Damage Score 0.1065 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.6%
  • 20x: 93.3%
Validation Efficiency 98% (107/109)
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: 105 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik T C 7: 29,260,131 (GRCm39) noncoding transcript Het
4930568D16Rik A G 2: 35,244,995 (GRCm39) M119T probably damaging Het
Aadacl2 A G 3: 59,924,871 (GRCm39) probably null Het
Abca9 C T 11: 110,021,542 (GRCm39) W1056* probably null Het
Adam20 A C 8: 41,249,698 (GRCm39) T603P possibly damaging Het
Adgrl1 T C 8: 84,656,666 (GRCm39) L323P probably damaging Het
Afap1l2 C T 19: 56,904,638 (GRCm39) E628K possibly damaging Het
Ahctf1 A T 1: 179,580,580 (GRCm39) L1874Q possibly damaging Het
Ak8 A G 2: 28,602,333 (GRCm39) E89G probably benign Het
Aldh16a1 G A 7: 44,796,732 (GRCm39) R256C probably damaging Het
Anxa5 G A 3: 36,519,480 (GRCm39) T3M probably damaging Het
Arhgef16 T C 4: 154,372,443 (GRCm39) K210E probably benign Het
Baz2b T C 2: 59,836,480 (GRCm39) T18A unknown Het
Bub1 A C 2: 127,645,042 (GRCm39) I960M possibly damaging Het
Cbln2 G T 18: 86,731,272 (GRCm39) D27Y probably benign Het
Ces2h C A 8: 105,741,239 (GRCm39) P77Q possibly damaging Het
Cfap410 G T 10: 77,818,778 (GRCm39) A150S probably benign Het
Chga T A 12: 102,527,959 (GRCm39) M150K probably benign Het
Chmp3 A G 6: 71,554,791 (GRCm39) E162G probably benign Het
Clip3 A G 7: 29,996,861 (GRCm39) N161S probably damaging Het
Col12a1 T A 9: 79,511,867 (GRCm39) probably benign Het
Cuedc2 C T 19: 46,320,079 (GRCm39) G105D probably benign Het
Cyp2j7 A C 4: 96,087,627 (GRCm39) F428V probably damaging Het
Ddx60 A G 8: 62,427,210 (GRCm39) I762V possibly damaging Het
Def6 G A 17: 28,439,160 (GRCm39) R257Q probably benign Het
Dkkl1 A T 7: 44,860,819 (GRCm39) probably null Het
Dnah3 A G 7: 119,677,625 (GRCm39) L433P probably damaging Het
Eif2s3y C T Y: 1,011,287 (GRCm39) R33C probably benign Het
Elavl2 T A 4: 91,141,715 (GRCm39) Y269F probably damaging Het
Esco2 A G 14: 66,068,711 (GRCm39) S200P possibly damaging Het
Fcrl1 T A 3: 87,292,626 (GRCm39) probably benign Het
Fhod1 C A 8: 106,056,309 (GRCm39) D1135Y probably damaging Het
Fnbp1l T C 3: 122,383,796 (GRCm39) N41D possibly damaging Het
Folh1 A T 7: 86,410,907 (GRCm39) probably null Het
Fpr-rs7 T C 17: 20,334,277 (GRCm39) D71G probably damaging Het
Gm10271 A G 10: 116,797,844 (GRCm39) probably benign Het
Gm4841 A T 18: 60,404,020 (GRCm39) Y24* probably null Het
Greb1 G A 12: 16,740,895 (GRCm39) R1396C probably benign Het
Hectd1 C T 12: 51,800,590 (GRCm39) C2076Y probably damaging Het
Hnrnpu A G 1: 178,152,806 (GRCm39) probably benign Het
Ice2 T C 9: 69,322,930 (GRCm39) I475T probably benign Het
Ifit1bl1 T A 19: 34,571,593 (GRCm39) Q288L probably damaging Het
Ift56 T A 6: 38,386,411 (GRCm39) D377E possibly damaging Het
Ik T C 18: 36,889,871 (GRCm39) probably benign Het
Kidins220 C T 12: 25,063,445 (GRCm39) probably benign Het
Kmt2c T C 5: 25,577,972 (GRCm39) D768G probably benign Het
Kmt2e A G 5: 23,697,362 (GRCm39) T87A probably damaging Het
Lama5 G A 2: 179,837,274 (GRCm39) probably benign Het
Lmbr1l A G 15: 98,810,357 (GRCm39) S85P probably damaging Het
Lrig2 A G 3: 104,374,682 (GRCm39) probably benign Het
Lrig3 A G 10: 125,845,944 (GRCm39) D791G probably damaging Het
Lrrc2 G A 9: 110,809,908 (GRCm39) V315M probably benign Het
Lrrc4b A G 7: 44,111,823 (GRCm39) D565G probably benign Het
Mpped1 C T 15: 83,676,191 (GRCm39) probably benign Het
Msrb2 T A 2: 19,388,114 (GRCm39) D87E probably benign Het
Muc20 T C 16: 32,614,511 (GRCm39) T289A possibly damaging Het
Myo15a C A 11: 60,369,238 (GRCm39) P666Q possibly damaging Het
Nfat5 C T 8: 108,088,421 (GRCm39) P579L probably damaging Het
Nipbl A C 15: 8,348,972 (GRCm39) M1920R probably damaging Het
Nuak1 T C 10: 84,210,738 (GRCm39) probably null Het
Odad2 A T 18: 7,127,388 (GRCm39) C942S probably damaging Het
Or52e8b A T 7: 104,673,370 (GRCm39) N272K probably benign Het
Or5an1c T A 19: 12,218,819 (GRCm39) I69F probably benign Het
Or6c6c T C 10: 129,541,574 (GRCm39) Y276H probably benign Het
Or9s13 G A 1: 92,548,342 (GRCm39) G238E possibly damaging Het
Or9s14 A T 1: 92,535,831 (GRCm39) N91Y possibly damaging Het
P4ha3 A T 7: 99,949,898 (GRCm39) probably null Het
Pbld2 C T 10: 62,890,150 (GRCm39) A186V probably benign Het
Pcdh18 A T 3: 49,710,083 (GRCm39) Y411N probably benign Het
Pgf A G 12: 85,218,541 (GRCm39) S70P probably benign Het
Phrf1 T A 7: 140,812,369 (GRCm39) D44E probably benign Het
Pla2g4a A G 1: 149,778,196 (GRCm39) probably benign Het
Plce1 A G 19: 38,769,234 (GRCm39) probably benign Het
Plxna2 A G 1: 194,493,278 (GRCm39) N1851S probably benign Het
Prl7a2 G A 13: 27,843,254 (GRCm39) T183I probably damaging Het
Prxl2b A T 4: 154,981,814 (GRCm39) V151D probably damaging Het
Ptger4 A T 15: 5,264,576 (GRCm39) L335H probably damaging Het
Ptgr1 A G 4: 58,984,865 (GRCm39) probably benign Het
Rdh7 A G 10: 127,720,590 (GRCm39) S261P probably benign Het
Reg3a A G 6: 78,360,269 (GRCm39) T150A probably benign Het
Rnf111 A G 9: 70,383,394 (GRCm39) S180P probably benign Het
Rnf17 A G 14: 56,759,856 (GRCm39) M1554V probably damaging Het
Rnf215 T A 11: 4,085,873 (GRCm39) Y117* probably null Het
Rnps1-ps A T 6: 7,983,124 (GRCm39) noncoding transcript Het
Rogdi T C 16: 4,828,369 (GRCm39) T165A probably benign Het
Rpe65 A G 3: 159,328,485 (GRCm39) Y431C probably damaging Het
Scube1 A G 15: 83,494,405 (GRCm39) F844S probably damaging Het
Sdr16c6 T A 4: 4,058,814 (GRCm39) E257D probably benign Het
Sim1 C A 10: 50,857,649 (GRCm39) C466* probably null Het
Spi1 T A 2: 90,929,867 (GRCm39) H46Q probably damaging Het
Sumf2 C A 5: 129,873,909 (GRCm39) probably benign Het
Tbcb A G 7: 29,931,037 (GRCm39) Y28H probably benign Het
Tecta C T 9: 42,254,927 (GRCm39) C1752Y probably damaging Het
Tep1 T C 14: 51,067,079 (GRCm39) probably benign Het
Tmem245 A T 4: 56,903,968 (GRCm39) W591R probably damaging Het
Tnxb A G 17: 34,902,548 (GRCm39) I1134V probably benign Het
Trappc14 T C 5: 138,260,739 (GRCm39) probably null Het
Trim13 G T 14: 61,843,068 (GRCm39) A362S probably benign Het
Trim47 T A 11: 116,000,646 (GRCm39) D134V probably damaging Het
Utrn C A 10: 12,312,108 (GRCm39) D616Y probably damaging Het
Vnn1 G T 10: 23,775,415 (GRCm39) A222S possibly damaging Het
Wdr17 A G 8: 55,143,249 (GRCm39) W110R probably damaging Het
Wwp1 G T 4: 19,627,892 (GRCm39) Y700* probably null Het
Zbtb21 T C 16: 97,751,785 (GRCm39) S661G probably benign Het
Zfp955b A G 17: 33,521,788 (GRCm39) K419R probably benign Het
Other mutations in Nup210l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00780:Nup210l APN 3 90,098,156 (GRCm39) splice site probably benign
IGL00813:Nup210l APN 3 90,039,725 (GRCm39) missense probably benign 0.00
IGL01375:Nup210l APN 3 90,067,200 (GRCm39) missense probably damaging 0.96
IGL01731:Nup210l APN 3 90,061,873 (GRCm39) missense probably damaging 1.00
IGL01786:Nup210l APN 3 90,030,083 (GRCm39) nonsense probably null
IGL01958:Nup210l APN 3 90,111,231 (GRCm39) missense possibly damaging 0.74
IGL02094:Nup210l APN 3 90,087,520 (GRCm39) critical splice donor site probably null
IGL02120:Nup210l APN 3 90,044,169 (GRCm39) missense probably damaging 1.00
IGL02313:Nup210l APN 3 90,030,099 (GRCm39) missense probably damaging 1.00
IGL02336:Nup210l APN 3 90,088,859 (GRCm39) critical splice donor site probably null
IGL02348:Nup210l APN 3 90,011,471 (GRCm39) utr 5 prime probably benign
IGL02372:Nup210l APN 3 90,109,278 (GRCm39) missense possibly damaging 0.80
IGL02557:Nup210l APN 3 90,031,537 (GRCm39) missense probably damaging 1.00
IGL02559:Nup210l APN 3 90,067,260 (GRCm39) missense probably benign 0.02
IGL02738:Nup210l APN 3 90,044,157 (GRCm39) missense possibly damaging 0.80
IGL03231:Nup210l APN 3 90,096,852 (GRCm39) missense probably damaging 1.00
IGL03257:Nup210l APN 3 90,087,455 (GRCm39) critical splice acceptor site probably null
IGL03388:Nup210l APN 3 90,077,351 (GRCm39) missense probably damaging 1.00
IGL03134:Nup210l UTSW 3 90,098,194 (GRCm39) missense possibly damaging 0.85
R0003:Nup210l UTSW 3 90,027,218 (GRCm39) missense probably damaging 1.00
R0040:Nup210l UTSW 3 90,089,212 (GRCm39) missense probably damaging 1.00
R0083:Nup210l UTSW 3 90,096,882 (GRCm39) missense probably damaging 1.00
R0090:Nup210l UTSW 3 90,119,086 (GRCm39) missense probably benign 0.00
R0108:Nup210l UTSW 3 90,096,882 (GRCm39) missense probably damaging 1.00
R0142:Nup210l UTSW 3 90,079,420 (GRCm39) missense probably damaging 1.00
R0306:Nup210l UTSW 3 90,114,675 (GRCm39) missense probably benign 0.13
R0332:Nup210l UTSW 3 90,039,616 (GRCm39) splice site probably benign
R0346:Nup210l UTSW 3 90,096,745 (GRCm39) missense probably damaging 1.00
R0463:Nup210l UTSW 3 90,087,518 (GRCm39) missense probably null 1.00
R0622:Nup210l UTSW 3 90,075,047 (GRCm39) missense probably damaging 0.98
R0765:Nup210l UTSW 3 90,027,184 (GRCm39) missense probably damaging 0.99
R0990:Nup210l UTSW 3 90,119,232 (GRCm39) missense probably benign 0.00
R1014:Nup210l UTSW 3 90,077,355 (GRCm39) missense possibly damaging 0.62
R1036:Nup210l UTSW 3 90,100,247 (GRCm39) splice site probably benign
R1177:Nup210l UTSW 3 90,109,310 (GRCm39) missense probably benign 0.11
R1183:Nup210l UTSW 3 90,067,252 (GRCm39) missense probably benign 0.04
R1188:Nup210l UTSW 3 90,105,486 (GRCm39) missense probably benign 0.16
R1457:Nup210l UTSW 3 90,098,279 (GRCm39) missense possibly damaging 0.68
R1471:Nup210l UTSW 3 90,077,869 (GRCm39) missense probably benign
R1627:Nup210l UTSW 3 90,051,476 (GRCm39) missense probably benign 0.15
R1827:Nup210l UTSW 3 90,061,864 (GRCm39) missense probably damaging 1.00
R1843:Nup210l UTSW 3 90,079,393 (GRCm39) missense probably damaging 0.96
R1858:Nup210l UTSW 3 90,061,806 (GRCm39) missense probably damaging 0.97
R1942:Nup210l UTSW 3 90,058,544 (GRCm39) missense probably benign 0.01
R2015:Nup210l UTSW 3 90,092,739 (GRCm39) missense probably damaging 1.00
R2113:Nup210l UTSW 3 90,098,281 (GRCm39) missense possibly damaging 0.48
R2944:Nup210l UTSW 3 90,088,852 (GRCm39) missense probably damaging 1.00
R3736:Nup210l UTSW 3 90,027,320 (GRCm39) missense probably damaging 1.00
R3740:Nup210l UTSW 3 90,114,701 (GRCm39) missense probably benign 0.08
R3741:Nup210l UTSW 3 90,114,701 (GRCm39) missense probably benign 0.08
R3742:Nup210l UTSW 3 90,114,701 (GRCm39) missense probably benign 0.08
R3771:Nup210l UTSW 3 90,027,201 (GRCm39) nonsense probably null
R3773:Nup210l UTSW 3 90,027,201 (GRCm39) nonsense probably null
R3879:Nup210l UTSW 3 90,092,780 (GRCm39) missense probably damaging 1.00
R3882:Nup210l UTSW 3 90,031,517 (GRCm39) missense probably benign 0.19
R3953:Nup210l UTSW 3 90,100,361 (GRCm39) missense possibly damaging 0.89
R3954:Nup210l UTSW 3 90,100,361 (GRCm39) missense possibly damaging 0.89
R3955:Nup210l UTSW 3 90,100,361 (GRCm39) missense possibly damaging 0.89
R3956:Nup210l UTSW 3 90,100,361 (GRCm39) missense possibly damaging 0.89
R4200:Nup210l UTSW 3 90,027,218 (GRCm39) missense probably damaging 1.00
R4290:Nup210l UTSW 3 90,114,633 (GRCm39) missense probably benign 0.00
R4328:Nup210l UTSW 3 90,083,142 (GRCm39) splice site probably null
R4629:Nup210l UTSW 3 90,098,181 (GRCm39) nonsense probably null
R4629:Nup210l UTSW 3 90,075,182 (GRCm39) missense probably benign 0.21
R4897:Nup210l UTSW 3 90,100,378 (GRCm39) missense probably damaging 1.00
R4906:Nup210l UTSW 3 90,077,337 (GRCm39) missense probably benign 0.06
R4966:Nup210l UTSW 3 90,014,208 (GRCm39) missense probably benign 0.00
R5004:Nup210l UTSW 3 90,087,472 (GRCm39) nonsense probably null
R5237:Nup210l UTSW 3 90,087,505 (GRCm39) missense probably benign 0.00
R5499:Nup210l UTSW 3 90,081,677 (GRCm39) missense probably damaging 1.00
R5522:Nup210l UTSW 3 90,061,972 (GRCm39) missense probably benign 0.10
R5627:Nup210l UTSW 3 90,051,557 (GRCm39) missense probably damaging 0.97
R5678:Nup210l UTSW 3 90,098,266 (GRCm39) missense probably damaging 0.99
R5726:Nup210l UTSW 3 90,036,514 (GRCm39) splice site probably null
R5792:Nup210l UTSW 3 90,107,164 (GRCm39) missense probably damaging 1.00
R6129:Nup210l UTSW 3 90,011,483 (GRCm39) missense probably benign 0.00
R6272:Nup210l UTSW 3 90,077,331 (GRCm39) missense possibly damaging 0.57
R6290:Nup210l UTSW 3 90,027,216 (GRCm39) nonsense probably null
R6293:Nup210l UTSW 3 90,022,371 (GRCm39) missense probably damaging 1.00
R6446:Nup210l UTSW 3 90,079,375 (GRCm39) missense probably damaging 1.00
R6698:Nup210l UTSW 3 90,089,815 (GRCm39) missense possibly damaging 0.57
R6855:Nup210l UTSW 3 90,044,231 (GRCm39) missense probably benign 0.01
R6895:Nup210l UTSW 3 90,067,231 (GRCm39) missense probably damaging 0.97
R6899:Nup210l UTSW 3 90,075,204 (GRCm39) missense possibly damaging 0.77
R6978:Nup210l UTSW 3 90,061,873 (GRCm39) missense possibly damaging 0.86
R6980:Nup210l UTSW 3 90,027,234 (GRCm39) missense probably benign 0.04
R7038:Nup210l UTSW 3 90,067,254 (GRCm39) missense probably damaging 1.00
R7273:Nup210l UTSW 3 90,025,854 (GRCm39) missense probably benign 0.04
R7450:Nup210l UTSW 3 90,022,495 (GRCm39) critical splice donor site probably null
R7514:Nup210l UTSW 3 90,117,766 (GRCm39) critical splice donor site probably null
R7658:Nup210l UTSW 3 90,119,300 (GRCm39) missense probably benign 0.43
R7735:Nup210l UTSW 3 90,092,883 (GRCm39) missense probably damaging 1.00
R7772:Nup210l UTSW 3 90,067,233 (GRCm39) missense probably damaging 1.00
R7800:Nup210l UTSW 3 90,041,904 (GRCm39) missense probably damaging 1.00
R7840:Nup210l UTSW 3 90,030,036 (GRCm39) missense probably benign 0.08
R7847:Nup210l UTSW 3 90,058,430 (GRCm39) missense probably benign
R7848:Nup210l UTSW 3 90,111,212 (GRCm39) missense probably benign 0.01
R8084:Nup210l UTSW 3 90,043,365 (GRCm39) missense probably benign 0.15
R8121:Nup210l UTSW 3 90,022,428 (GRCm39) missense probably damaging 1.00
R8421:Nup210l UTSW 3 90,111,174 (GRCm39) missense probably damaging 1.00
R8458:Nup210l UTSW 3 90,092,874 (GRCm39) missense probably null 1.00
R8701:Nup210l UTSW 3 90,030,121 (GRCm39) missense probably benign 0.41
R8720:Nup210l UTSW 3 90,117,681 (GRCm39) missense probably benign 0.00
R8770:Nup210l UTSW 3 90,025,850 (GRCm39) missense probably damaging 1.00
R8896:Nup210l UTSW 3 90,025,932 (GRCm39) missense probably damaging 1.00
R9033:Nup210l UTSW 3 90,105,396 (GRCm39) missense probably benign
R9371:Nup210l UTSW 3 90,107,173 (GRCm39) missense probably benign 0.01
R9373:Nup210l UTSW 3 90,107,173 (GRCm39) missense probably benign 0.01
R9381:Nup210l UTSW 3 90,107,173 (GRCm39) missense probably benign 0.01
R9426:Nup210l UTSW 3 90,107,173 (GRCm39) missense probably benign 0.01
R9427:Nup210l UTSW 3 90,107,173 (GRCm39) missense probably benign 0.01
R9501:Nup210l UTSW 3 90,107,173 (GRCm39) missense probably benign 0.01
R9523:Nup210l UTSW 3 90,107,173 (GRCm39) missense probably benign 0.01
R9574:Nup210l UTSW 3 90,117,693 (GRCm39) missense probably benign
R9612:Nup210l UTSW 3 90,107,173 (GRCm39) missense probably benign 0.01
R9654:Nup210l UTSW 3 90,107,173 (GRCm39) missense probably benign 0.01
R9660:Nup210l UTSW 3 90,107,173 (GRCm39) missense probably benign 0.01
R9660:Nup210l UTSW 3 90,105,402 (GRCm39) missense probably benign 0.30
R9662:Nup210l UTSW 3 90,107,173 (GRCm39) missense probably benign 0.01
R9682:Nup210l UTSW 3 90,051,469 (GRCm39) missense possibly damaging 0.79
R9729:Nup210l UTSW 3 90,107,173 (GRCm39) missense probably benign 0.01
R9750:Nup210l UTSW 3 90,117,659 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- TGAGCTGACATGCTCTCTGTGC -3'
(R):5'- TGCAAAGCTGTAGGCTAATCCCTTC -3'

Sequencing Primer
(F):5'- gtcctcttgcctcagcc -3'
(R):5'- ccacatgctaggcaaggac -3'
Posted On 2014-05-23