Incidental Mutation 'IGL02151:Nxf3'
ID 281991
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nxf3
Ensembl Gene ENSMUSG00000057000
Gene Name nuclear RNA export factor 3
Synonyms LOC245610
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02151
Quality Score
Status
Chromosome X
Chromosomal Location 134972848-134986004 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 134980322 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 130 (F130S)
Ref Sequence ENSEMBL: ENSMUSP00000079730 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080929] [ENSMUST00000138878]
AlphaFold Q4ZGD9
Predicted Effect probably damaging
Transcript: ENSMUST00000080929
AA Change: F130S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000079730
Gene: ENSMUSG00000057000
AA Change: F130S

DomainStartEndE-ValueType
low complexity region 11 24 N/A INTRINSIC
Pfam:Tap-RNA_bind 99 181 1.6e-34 PFAM
Pfam:NTF2 318 468 4.8e-18 PFAM
TAP_C 485 548 1.13e-19 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000138878
SMART Domains Protein: ENSMUSP00000121486
Gene: ENSMUSG00000057000

DomainStartEndE-ValueType
Pfam:Tap-RNA_bind 83 103 4.3e-9 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is one member of a family of nuclear RNA export factor genes. Common domain features of this family are a noncanonical RNP-type RNA-binding domain (RBD), 4 leucine-rich repeats (LRRs), a nuclear transport factor 2 (NTF2)-like domain that allows heterodimerization with NTF2-related export protein-1 (NXT1), and a ubiquitin-associated domain that mediates interactions with nucleoporins. The LRRs and NTF2-like domains are required for export activity. Alternative splicing seems to be a common mechanism in this gene family. The encoded protein of this gene has shortened LRR and ubiquitin-associated domains and its RDB is unable to bind RNA. It is located in the nucleoplasm but is not associated with either the nuclear envelope or the nucleolus. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal fertility and male reproductive system morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgra3 G T 5: 50,136,484 (GRCm39) T667N probably benign Het
Aff4 T C 11: 53,290,633 (GRCm39) I531T probably benign Het
Akap9 C T 5: 4,082,728 (GRCm39) Q1951* probably null Het
Arhgef10 C T 8: 14,978,889 (GRCm39) T52M possibly damaging Het
Atg2a A G 19: 6,305,787 (GRCm39) E1132G possibly damaging Het
AW551984 A C 9: 39,504,241 (GRCm39) I575S probably benign Het
Cfap299 C T 5: 98,477,301 (GRCm39) T24M probably damaging Het
Cog7 T C 7: 121,543,031 (GRCm39) E460G probably damaging Het
Ctse A G 1: 131,600,273 (GRCm39) I341V probably benign Het
Dcpp1 A T 17: 24,101,568 (GRCm39) I106L possibly damaging Het
Dcxr T A 11: 120,616,809 (GRCm39) M158L probably benign Het
Dnah11 A T 12: 118,023,623 (GRCm39) probably benign Het
Dnah7a T A 1: 53,512,023 (GRCm39) I3013F probably benign Het
Dnah8 A G 17: 30,867,391 (GRCm39) D281G possibly damaging Het
Dpysl3 G A 18: 43,491,365 (GRCm39) H136Y probably damaging Het
Eaf1 C T 14: 31,219,744 (GRCm39) T61M probably damaging Het
Fmnl1 A G 11: 103,083,598 (GRCm39) T441A probably benign Het
Hmgcll1 C T 9: 75,988,720 (GRCm39) P197L probably benign Het
Kdm4b T C 17: 56,703,234 (GRCm39) V643A probably benign Het
Lrch2 A G X: 146,336,716 (GRCm39) F111L possibly damaging Het
Macf1 A T 4: 123,265,559 (GRCm39) probably benign Het
Mfsd4b2 T C 10: 39,797,687 (GRCm39) N223D probably damaging Het
Mug1 G A 6: 121,861,649 (GRCm39) probably null Het
Nek7 A T 1: 138,414,838 (GRCm39) L270Q probably damaging Het
Nexn T A 3: 151,953,881 (GRCm39) D127V probably damaging Het
Or11a4 T A 17: 37,536,057 (GRCm39) F14I probably damaging Het
Or52ac1 A G 7: 104,245,741 (GRCm39) S216P probably damaging Het
Pcdhb16 G A 18: 37,611,411 (GRCm39) V124I possibly damaging Het
Podxl T C 6: 31,501,394 (GRCm39) D387G possibly damaging Het
Prp2rt T A 13: 97,235,682 (GRCm39) T22S probably null Het
Rab3d C A 9: 21,827,020 (GRCm39) R70M probably damaging Het
Ripk2 A T 4: 16,139,240 (GRCm39) M219K possibly damaging Het
Rnf146 A G 10: 29,223,349 (GRCm39) V179A probably damaging Het
Robo1 G T 16: 72,786,504 (GRCm39) V839L probably benign Het
Rttn T A 18: 89,038,329 (GRCm39) N808K probably damaging Het
Slc12a3 T G 8: 95,075,220 (GRCm39) V738G probably benign Het
Slc26a3 T C 12: 31,497,830 (GRCm39) V78A probably damaging Het
Slc26a9 G A 1: 131,691,781 (GRCm39) V675M probably damaging Het
Sncb T A 13: 54,910,509 (GRCm39) I76F probably benign Het
Stat4 G A 1: 52,053,029 (GRCm39) R70H probably damaging Het
Tle6 T C 10: 81,434,474 (GRCm39) M42V probably benign Het
Tmem67 T C 4: 12,068,882 (GRCm39) T439A probably benign Het
Ugt2b35 C A 5: 87,151,141 (GRCm39) T249K possibly damaging Het
Vmn1r231 C T 17: 21,109,997 (GRCm39) R306K probably benign Het
Vmn1r42 A T 6: 89,822,023 (GRCm39) I182N possibly damaging Het
Zfhx3 T C 8: 109,520,515 (GRCm39) S546P probably damaging Het
Zic3 G T X: 57,076,899 (GRCm39) probably null Het
Other mutations in Nxf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1400:Nxf3 UTSW X 134,976,794 (GRCm39) missense probably benign 0.00
R1678:Nxf3 UTSW X 134,976,270 (GRCm39) missense probably damaging 1.00
R1990:Nxf3 UTSW X 134,976,583 (GRCm39) missense possibly damaging 0.89
R1991:Nxf3 UTSW X 134,976,583 (GRCm39) missense possibly damaging 0.89
R3847:Nxf3 UTSW X 134,974,732 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16