Incidental Mutation 'IGL02140:Nup37'
ID 281498
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nup37
Ensembl Gene ENSMUSG00000035351
Gene Name nucleoporin 37
Synonyms 2810039M17Rik, 2410003L22Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02140
Quality Score
Status
Chromosome 10
Chromosomal Location 87982854-88014252 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 87994791 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9CWU9
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: 71,195,034 (GRCm39) V144I probably benign Het
B3gat1 A G 9: 26,669,043 (GRCm39) K325E possibly damaging Het
Cd36 T A 5: 18,033,766 (GRCm39) probably benign Het
Ces3a A G 8: 105,782,263 (GRCm39) E325G probably benign Het
Col1a2 G A 6: 4,515,639 (GRCm39) G136D unknown Het
Cyp3a25 T G 5: 145,946,273 (GRCm39) probably benign Het
Cyp3a59 T C 5: 146,039,690 (GRCm39) L321P probably damaging Het
Dag1 A G 9: 108,095,391 (GRCm39) S34P probably damaging Het
Defa27 A T 8: 21,805,674 (GRCm39) K13* probably null Het
Disp2 T C 2: 118,621,350 (GRCm39) F694S probably benign Het
Dnah12 G T 14: 26,437,732 (GRCm39) A454S probably benign Het
Dync2h1 A T 9: 7,147,791 (GRCm39) D946E probably benign Het
Fcgbp A G 7: 27,791,379 (GRCm39) E880G probably damaging Het
Fgfr4 T C 13: 55,308,992 (GRCm39) V371A probably benign Het
Frem3 G T 8: 81,340,736 (GRCm39) V1010F possibly damaging Het
Gm13283 G A 4: 88,679,272 (GRCm39) V88I probably benign Het
Gm5134 G A 10: 75,821,945 (GRCm39) V260I probably benign Het
Grhl2 A G 15: 37,270,830 (GRCm39) probably benign Het
Hectd1 A T 12: 51,820,920 (GRCm39) W1090R probably damaging Het
Hydin G A 8: 111,293,570 (GRCm39) V3506I probably benign Het
Igkc C T 6: 70,703,559 (GRCm39) R47* probably null Het
Iglv3 T A 16: 19,060,160 (GRCm39) Q56L probably damaging Het
Impg2 T A 16: 56,079,831 (GRCm39) M436K probably benign Het
Kcnma1 T A 14: 23,359,113 (GRCm39) K1110N probably damaging Het
Marf1 T C 16: 13,959,776 (GRCm39) E694G probably damaging Het
Or10al7 A G 17: 38,366,481 (GRCm39) M1T probably null Het
Or4a73 T C 2: 89,420,586 (GRCm39) E291G probably damaging Het
P3h1 A G 4: 119,095,062 (GRCm39) D273G probably damaging Het
Pcsk9 T C 4: 106,311,843 (GRCm39) D178G probably benign Het
Phyhipl T C 10: 70,406,660 (GRCm39) K53R probably damaging Het
Pkp3 T G 7: 140,669,249 (GRCm39) L697R probably damaging Het
Rab11fip3 A G 17: 26,286,866 (GRCm39) V429A probably benign Het
Rgl2 A G 17: 34,152,098 (GRCm39) N295S probably damaging Het
Spag5 A T 11: 78,206,459 (GRCm39) D817V possibly damaging Het
Tas2r117 C A 6: 132,780,558 (GRCm39) T232K probably benign Het
Thumpd1 A G 7: 119,316,232 (GRCm39) V239A possibly damaging Het
Timd4 T A 11: 46,710,841 (GRCm39) S248T possibly damaging Het
Tmem207 A T 16: 26,335,490 (GRCm39) N82K probably benign Het
Ttn T A 2: 76,538,557 (GRCm39) T34714S possibly damaging Het
Vmn1r194 G A 13: 22,428,706 (GRCm39) V108I probably benign Het
Vmn2r24 T A 6: 123,757,631 (GRCm39) S166R probably damaging Het
Vmn2r32 A G 7: 7,479,696 (GRCm39) F159S probably damaging Het
Wdr72 A T 9: 74,117,505 (GRCm39) Q739L probably benign Het
Other mutations in Nup37
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1486:Nup37 UTSW 10 87,984,116 (GRCm39) missense probably damaging 1.00
R1646:Nup37 UTSW 10 88,014,096 (GRCm39) missense possibly damaging 0.78
R4492:Nup37 UTSW 10 88,010,791 (GRCm39) missense possibly damaging 0.95
R6441:Nup37 UTSW 10 87,996,799 (GRCm39) missense probably benign 0.00
R7290:Nup37 UTSW 10 88,010,356 (GRCm39) missense probably damaging 0.98
Posted On 2015-04-16