Incidental Mutation 'R4492:Nup37'
ID 330789
Institutional Source Beutler Lab
Gene Symbol Nup37
Ensembl Gene ENSMUSG00000035351
Gene Name nucleoporin 37
Synonyms
MMRRC Submission 041581-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4492 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 88146992-88178390 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 88174929 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 257 (F257I)
Ref Sequence ENSEMBL: ENSMUSP00000129728 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052355] [ENSMUST00000169309]
AlphaFold Q9CWU9
Predicted Effect possibly damaging
Transcript: ENSMUST00000052355
AA Change: F257I

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000059880
Gene: ENSMUSG00000035351
AA Change: F257I

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 possibly damaging
Transcript: ENSMUST00000169309
AA Change: F257I

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000129728
Gene: ENSMUSG00000035351
AA Change: F257I

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 noncoding transcript
Transcript: ENSMUST00000219059
Predicted Effect unknown
Transcript: ENSMUST00000219121
AA Change: F59I
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr6 T G 10: 89,725,814 I157L probably benign Het
Amph T C 13: 19,149,758 V663A possibly damaging Het
Anapc16 A G 10: 59,990,902 S50P possibly damaging Het
Ank3 T A 10: 69,808,925 V60D probably damaging Het
Btbd9 A G 17: 30,527,571 Y94H probably damaging Het
Chil3 A G 3: 106,155,701 I191T probably damaging Het
Clpb T C 7: 101,787,722 L668P probably damaging Het
Cyp2d22 G A 15: 82,374,370 H97Y probably benign Het
Dhrs7 A T 12: 72,653,125 N244K probably damaging Het
Dusp4 C T 8: 34,807,736 T3M possibly damaging Het
Edc4 GGATTTTAGCCA G 8: 105,885,068 probably null Het
Etl4 G A 2: 20,806,865 S1621N possibly damaging Het
Fam174a T C 1: 95,313,976 S54P probably benign Het
Fdxacb1 T C 9: 50,770,247 F7S probably damaging Het
Focad G A 4: 88,359,905 probably null Het
Gpr156 T A 16: 37,992,106 L268H probably damaging Het
Gpr17 A T 18: 31,947,251 I253N possibly damaging Het
H2-T23 A T 17: 36,032,166 N106K probably damaging Het
Hspa4 T C 11: 53,280,469 R303G probably damaging Het
Irgm1 G A 11: 48,866,128 silent Het
Jph1 A C 1: 16,997,546 I114S probably damaging Het
Kcna1 C T 6: 126,642,275 D361N possibly damaging Het
Kcna4 G A 2: 107,296,091 R390Q probably damaging Het
Lum C A 10: 97,568,438 P65H probably damaging Het
Mc4r A G 18: 66,859,640 L134P probably benign Het
Mroh8 A T 2: 157,258,040 I248N probably damaging Het
Nos2 A G 11: 78,950,095 T677A probably benign Het
Olfr231 C T 1: 174,117,204 V271I probably benign Het
Olfr273 T C 4: 52,855,764 I250V probably benign Het
Pdzd2 C T 15: 12,385,637 D1016N possibly damaging Het
Pdzd2 A C 15: 12,419,481 M501R possibly damaging Het
Pitx1 T C 13: 55,828,652 K65E probably benign Het
Pla1a C T 16: 38,409,610 A247T probably benign Het
Prex2 T A 1: 11,162,263 S851R probably benign Het
Prss8 A G 7: 127,929,807 S26P probably damaging Het
Rasef A C 4: 73,734,503 L587R probably damaging Het
Rock2 T A 12: 16,977,683 C1334S probably damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,579,923 probably benign Het
Serpina6 A G 12: 103,646,887 W385R probably damaging Het
Slc12a5 T C 2: 164,979,343 M249T probably benign Het
Srsf9 T A 5: 115,332,592 I117N probably damaging Het
Taf1 G T X: 101,543,059 M313I possibly damaging Het
Tmem30a T C 9: 79,777,285 H95R probably damaging Het
Top2b T G 14: 16,409,189 I777M probably damaging Het
Ttc21a T C 9: 119,941,280 V139A probably benign Het
Zfp236 A T 18: 82,630,000 V1012D probably damaging Het
Zfp612 C A 8: 110,089,297 Q379K probably damaging Het
Zfp930 C T 8: 69,228,246 Q198* probably null Het
Other mutations in Nup37
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02140:Nup37 APN 10 88158929 missense probably benign 0.00
R1486:Nup37 UTSW 10 88148254 missense probably damaging 1.00
R1646:Nup37 UTSW 10 88178234 missense possibly damaging 0.78
R6441:Nup37 UTSW 10 88160937 missense probably benign 0.00
R7290:Nup37 UTSW 10 88174494 missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TAACTCATGGCCATTGTTCACTG -3'
(R):5'- CATGTCCTGCTCACCTAAAGC -3'

Sequencing Primer
(F):5'- TTCCAACTGAGTGCTTACTTGG -3'
(R):5'- GCAAAAGACAAAGCAACTACTTAG -3'
Posted On 2015-07-21