Incidental Mutation 'IGL02140:Nup37'
ID281498
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nup37
Ensembl Gene ENSMUSG00000035351
Gene Namenucleoporin 37
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02140
Quality Score
Status
Chromosome10
Chromosomal Location88146992-88178390 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 88158929 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Threonine at position 118 (K118T)
Ref Sequence ENSEMBL: ENSMUSP00000129728 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052355] [ENSMUST00000169309]
Predicted Effect probably benign
Transcript: ENSMUST00000052355
AA Change: K118T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000059880
Gene: ENSMUSG00000035351
AA Change: K118T

DomainStartEndE-ValueType
WD40 62 108 6.16e0 SMART
WD40 113 153 2.29e-8 SMART
WD40 155 194 2.97e0 SMART
Blast:WD40 198 236 4e-14 BLAST
Blast:WD40 287 323 8e-16 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000169309
AA Change: K118T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000129728
Gene: ENSMUSG00000035351
AA Change: K118T

DomainStartEndE-ValueType
WD40 62 108 6.16e0 SMART
WD40 113 153 2.29e-8 SMART
WD40 155 194 2.97e0 SMART
Blast:WD40 198 236 4e-14 BLAST
Blast:WD40 287 323 8e-16 BLAST
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Nuclear pore complexes (NPCs) are used for transporting macromolecules between the cytoplasm and the nucleus. NPCs consist of multiple copies of 30 distinct proteins (nucleoporins), which assemble into biochemically-separable subcomplexes. The protein encoded by this gene is part of a subcomplex (Nup107-160) that is required for proper NPC function as well as for normal kinetochore-microtubule interaction and mitosis. [provided by RefSeq, Dec 2015]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G A 12: 71,148,260 V144I probably benign Het
B3gat1 A G 9: 26,757,747 K325E possibly damaging Het
Cd36 T A 5: 17,828,768 probably benign Het
Ces3a A G 8: 105,055,631 E325G probably benign Het
Col1a2 G A 6: 4,515,639 G136D unknown Het
Cyp3a25 T G 5: 146,009,463 probably benign Het
Cyp3a59 T C 5: 146,102,880 L321P probably damaging Het
Dag1 A G 9: 108,218,192 S34P probably damaging Het
Defa27 A T 8: 21,315,658 K13* probably null Het
Disp2 T C 2: 118,790,869 F694S probably benign Het
Dnah12 G T 14: 26,716,577 A454S probably benign Het
Dync2h1 A T 9: 7,147,791 D946E probably benign Het
Fcgbp A G 7: 28,091,954 E880G probably damaging Het
Fgfr4 T C 13: 55,161,179 V371A probably benign Het
Frem3 G T 8: 80,614,107 V1010F possibly damaging Het
Gm13283 G A 4: 88,761,035 V88I probably benign Het
Gm5134 G A 10: 75,986,111 V260I probably benign Het
Grhl2 A G 15: 37,270,586 probably benign Het
Hectd1 A T 12: 51,774,137 W1090R probably damaging Het
Hydin G A 8: 110,566,938 V3506I probably benign Het
Igkc C T 6: 70,726,575 R47* probably null Het
Iglv3 T A 16: 19,241,410 Q56L probably damaging Het
Impg2 T A 16: 56,259,468 M436K probably benign Het
Kcnma1 T A 14: 23,309,045 K1110N probably damaging Het
Marf1 T C 16: 14,141,912 E694G probably damaging Het
Olfr1246 T C 2: 89,590,242 E291G probably damaging Het
Olfr129 A G 17: 38,055,590 M1T probably null Het
P3h1 A G 4: 119,237,865 D273G probably damaging Het
Pcsk9 T C 4: 106,454,646 D178G probably benign Het
Phyhipl T C 10: 70,570,830 K53R probably damaging Het
Pkp3 T G 7: 141,089,336 L697R probably damaging Het
Rab11fip3 A G 17: 26,067,892 V429A probably benign Het
Rgl2 A G 17: 33,933,124 N295S probably damaging Het
Spag5 A T 11: 78,315,633 D817V possibly damaging Het
Tas2r117 C A 6: 132,803,595 T232K probably benign Het
Thumpd1 A G 7: 119,717,009 V239A possibly damaging Het
Timd4 T A 11: 46,820,014 S248T possibly damaging Het
Tmem207 A T 16: 26,516,740 N82K probably benign Het
Ttn T A 2: 76,708,213 T34714S possibly damaging Het
Vmn1r194 G A 13: 22,244,536 V108I probably benign Het
Vmn2r24 T A 6: 123,780,672 S166R probably damaging Het
Vmn2r32 A G 7: 7,476,697 F159S probably damaging Het
Wdr72 A T 9: 74,210,223 Q739L probably benign Het
Other mutations in Nup37
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1486:Nup37 UTSW 10 88148254 missense probably damaging 1.00
R1646:Nup37 UTSW 10 88178234 missense possibly damaging 0.78
R4492:Nup37 UTSW 10 88174929 missense possibly damaging 0.95
R6441:Nup37 UTSW 10 88160937 missense probably benign 0.00
R7290:Nup37 UTSW 10 88174494 missense probably damaging 0.98
Posted On2015-04-16