Incidental Mutation 'IGL03383:Nxf1'
ID420759
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nxf1
Ensembl Gene ENSMUSG00000010097
Gene Namenuclear RNA export factor 1
SynonymsTip associated protein, Mex67, TAP, Mvb1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03383
Quality Score
Status
Chromosome19
Chromosomal Location8757073-8772475 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 8763697 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 15 (F15L)
Ref Sequence ENSEMBL: ENSMUSP00000139351 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010241] [ENSMUST00000183939] [ENSMUST00000184756] [ENSMUST00000184970]
Predicted Effect probably benign
Transcript: ENSMUST00000010241
AA Change: F151L

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000010241
Gene: ENSMUSG00000010097
AA Change: F151L

DomainStartEndE-ValueType
low complexity region 33 50 N/A INTRINSIC
low complexity region 67 81 N/A INTRINSIC
Pfam:Tap-RNA_bind 115 198 7.6e-42 PFAM
low complexity region 258 274 N/A INTRINSIC
LRRcap 333 351 1.44e0 SMART
Pfam:NTF2 385 535 1.3e-29 PFAM
TAP_C 555 618 1.85e-33 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183780
Predicted Effect probably damaging
Transcript: ENSMUST00000183939
AA Change: F15L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000139351
Gene: ENSMUSG00000010097
AA Change: F15L

DomainStartEndE-ValueType
Pfam:Tap-RNA_bind 1 63 5.7e-28 PFAM
low complexity region 122 138 N/A INTRINSIC
Pfam:LRR_1 155 178 2.1e-2 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184387
Predicted Effect probably benign
Transcript: ENSMUST00000184756
SMART Domains Protein: ENSMUSP00000139050
Gene: ENSMUSG00000010097

DomainStartEndE-ValueType
low complexity region 33 50 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000184826
Predicted Effect probably damaging
Transcript: ENSMUST00000184970
AA Change: F151L

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000139124
Gene: ENSMUSG00000010097
AA Change: F151L

DomainStartEndE-ValueType
low complexity region 33 50 N/A INTRINSIC
low complexity region 67 81 N/A INTRINSIC
Pfam:Tap-RNA_bind 112 199 2.4e-45 PFAM
low complexity region 258 274 N/A INTRINSIC
Pfam:LRR_1 291 314 3.2e-2 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185056
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 shuttles between the nucleus and the cytoplasm and binds in vivo to poly(A)+ RNA. It is the vertebrate homologue of the yeast protein Mex67p. The encoded protein overcomes the mRNA export block caused by the presence of saturating amounts of CTE (constitutive transport element) RNA of type D retroviruses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for some alleles are able to suppress defects caused by retrovirus insertion mutations. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl4 C T 4: 111,657,423 probably benign Het
Cit T C 5: 115,873,845 probably benign Het
Clmp A G 9: 40,774,441 N211S probably damaging Het
Cnot2 A G 10: 116,494,817 probably benign Het
Cntn6 A G 6: 104,776,457 probably benign Het
Dnajb9 C T 12: 44,208,313 probably benign Het
Ece2 T A 16: 20,633,097 N411K possibly damaging Het
Fam208a A G 14: 27,441,961 I235V possibly damaging Het
Fshr A G 17: 89,046,699 I77T possibly damaging Het
Fshr A G 17: 88,985,693 M519T probably damaging Het
Gm10654 G A 8: 70,932,131 noncoding transcript Het
Gm5093 A G 17: 46,439,591 I170T probably benign Het
Meis3 A G 7: 16,183,819 K299R probably damaging Het
Nxpe3 T C 16: 55,849,713 D343G probably benign Het
Olfr1246 A T 2: 89,590,312 Y268N probably benign Het
Polr3k A G 2: 181,866,027 T65A probably damaging Het
Preb A T 5: 30,958,321 W222R probably damaging Het
Psmd11 T C 11: 80,469,845 I56T probably damaging Het
Rtkn2 A G 10: 68,017,837 T232A probably damaging Het
Scaf11 T C 15: 96,420,183 probably null Het
Slc4a10 A T 2: 62,267,436 K493M probably damaging Het
Stard10 A G 7: 101,342,570 K112E probably damaging Het
Sugp1 A T 8: 70,069,567 probably benign Het
Tmem156 T C 5: 65,075,697 E139G probably damaging Het
Tubd1 C T 11: 86,549,008 probably benign Het
Uap1 G A 1: 170,158,891 T174M probably damaging Het
Vmn2r13 T C 5: 109,156,532 T678A probably damaging Het
Vmn2r84 A T 10: 130,386,687 C555S probably damaging Het
Vps13d T C 4: 145,168,319 probably null Het
Vps8 T C 16: 21,435,823 probably null Het
Wee1 A G 7: 110,139,692 N590S probably damaging Het
Zfp112 C A 7: 24,125,678 S357Y probably damaging Het
Zfp423 T A 8: 87,859,452 K48* probably null Het
Zscan4d A G 7: 11,162,765 V226A probably benign Het
Other mutations in Nxf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00228:Nxf1 APN 19 8762742 missense possibly damaging 0.95
IGL02318:Nxf1 APN 19 8764150 critical splice donor site probably null
Chance UTSW 19 8769182 missense probably damaging 1.00
Possibility UTSW 19 8767744 missense probably damaging 1.00
Probability UTSW 19 8764317 missense probably benign 0.01
R0125:Nxf1 UTSW 19 8762806 missense probably benign 0.37
R0362:Nxf1 UTSW 19 8764151 critical splice donor site probably null
R0374:Nxf1 UTSW 19 8767739 missense possibly damaging 0.86
R0403:Nxf1 UTSW 19 8765028 missense probably damaging 1.00
R0883:Nxf1 UTSW 19 8764591 missense probably damaging 1.00
R1004:Nxf1 UTSW 19 8764317 missense probably benign 0.01
R1068:Nxf1 UTSW 19 8762754 missense probably damaging 0.97
R1503:Nxf1 UTSW 19 8762436 missense probably benign
R1669:Nxf1 UTSW 19 8772131 missense possibly damaging 0.93
R1679:Nxf1 UTSW 19 8769074 missense probably benign
R4424:Nxf1 UTSW 19 8766764 utr 3 prime probably benign
R4608:Nxf1 UTSW 19 8762763 missense probably benign 0.03
R4783:Nxf1 UTSW 19 8766798 missense probably benign 0.01
R4969:Nxf1 UTSW 19 8762305 splice site probably null
R5233:Nxf1 UTSW 19 8763929 missense possibly damaging 0.67
R5370:Nxf1 UTSW 19 8772140 missense probably damaging 1.00
R6024:Nxf1 UTSW 19 8767744 missense probably damaging 1.00
R6058:Nxf1 UTSW 19 8767822 missense probably damaging 1.00
R6063:Nxf1 UTSW 19 8767787 missense possibly damaging 0.46
R6293:Nxf1 UTSW 19 8769182 missense probably damaging 1.00
R6378:Nxf1 UTSW 19 8764546 missense probably benign 0.19
R8170:Nxf1 UTSW 19 8771050 missense probably benign 0.02
R8317:Nxf1 UTSW 19 8771043 missense probably benign
RF021:Nxf1 UTSW 19 8772309 missense probably damaging 1.00
X0024:Nxf1 UTSW 19 8763764 missense probably benign 0.04
Posted On2016-08-02