Incidental Mutation 'R4783:Nxf1'
ID 366777
Institutional Source Beutler Lab
Gene Symbol Nxf1
Ensembl Gene ENSMUSG00000010097
Gene Name nuclear RNA export factor 1
Synonyms Tip associated protein, TAP, Mex67, Mvb1
MMRRC Submission 042416-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4783 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 8734467-8748274 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 8744162 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 339 (A339T)
Ref Sequence ENSEMBL: ENSMUSP00000010241 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010241] [ENSMUST00000010248] [ENSMUST00000183939] [ENSMUST00000184663] [ENSMUST00000184970] [ENSMUST00000184756]
AlphaFold Q99JX7
Predicted Effect probably benign
Transcript: ENSMUST00000010241
AA Change: A339T

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000010241
Gene: ENSMUSG00000010097
AA Change: A339T

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 probably benign
Transcript: ENSMUST00000010248
SMART Domains Protein: ENSMUSP00000010248
Gene: ENSMUSG00000010097

DomainStartEndE-ValueType
Pfam:TMEM223 32 197 6.5e-64 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183780
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183898
Predicted Effect probably benign
Transcript: ENSMUST00000183939
SMART Domains Protein: ENSMUSP00000139351
Gene: ENSMUSG00000010097

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 noncoding transcript
Transcript: ENSMUST00000185056
Predicted Effect probably benign
Transcript: ENSMUST00000184663
AA Change: A34T

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000139090
Gene: ENSMUSG00000010097
AA Change: A34T

DomainStartEndE-ValueType
LRRcap 28 46 1.44e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184808
Predicted Effect probably benign
Transcript: ENSMUST00000184970
SMART Domains Protein: ENSMUSP00000139124
Gene: ENSMUSG00000010097

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 probably benign
Transcript: ENSMUST00000184826
Predicted Effect probably benign
Transcript: ENSMUST00000184756
SMART Domains Protein: ENSMUSP00000139050
Gene: ENSMUSG00000010097

DomainStartEndE-ValueType
low complexity region 33 50 N/A INTRINSIC
Meta Mutation Damage Score 0.0723 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency 100% (99/99)
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: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110082J24Rik G A 5: 30,310,198 (GRCm39) R54* probably null Het
Acsl6 A T 11: 54,227,819 (GRCm39) M350L probably damaging Het
Adgrv1 T C 13: 81,243,564 (GRCm39) T6279A probably damaging Het
Ago3 A T 4: 126,262,296 (GRCm39) M418K probably benign Het
Ascc2 G A 11: 4,596,653 (GRCm39) R58H probably benign Het
Brinp3 A G 1: 146,603,378 (GRCm39) probably benign Het
Carmil3 T C 14: 55,738,778 (GRCm39) probably null Het
Ccdc47 T A 11: 106,094,430 (GRCm39) H7L probably benign Het
Ccndbp1 A T 2: 120,839,003 (GRCm39) T5S probably benign Het
Cdr2 A T 7: 120,557,644 (GRCm39) F294I probably benign Het
Chd8 C A 14: 52,442,825 (GRCm39) C575F probably damaging Het
Ctsll3 G A 13: 60,948,209 (GRCm39) T156I probably damaging Het
Dgcr8 G A 16: 18,076,174 (GRCm39) R4* probably null Het
Dnah1 T A 14: 30,985,436 (GRCm39) K3818N probably damaging Het
Dok2 C T 14: 71,015,314 (GRCm39) P347L probably benign Het
Elf1 T A 14: 79,818,183 (GRCm39) N567K probably benign Het
Emsy T C 7: 98,295,686 (GRCm39) N72S possibly damaging Het
Fam76a A G 4: 132,643,501 (GRCm39) Y78H probably damaging Het
Fam76a A T 4: 132,629,428 (GRCm39) probably null Het
Fbn1 A T 2: 125,166,839 (GRCm39) C2026S probably damaging Het
Fbxo4 T C 15: 3,998,523 (GRCm39) T312A probably benign Het
Fhip1a G T 3: 85,595,877 (GRCm39) T115K probably damaging Het
Flnb A T 14: 7,905,701 (GRCm38) E1150D probably benign Het
Galt T C 4: 41,758,189 (GRCm39) V318A probably damaging Het
Git1 T G 11: 77,390,663 (GRCm39) L133R probably damaging Het
Gm11168 G A 9: 3,006,915 (GRCm39) M213I probably benign Het
Gm7233 A G 14: 43,037,423 (GRCm39) E25G probably benign Het
Golga2 T A 2: 32,187,168 (GRCm39) N89K probably damaging Het
Grin1 T A 2: 25,182,393 (GRCm39) H956L possibly damaging Het
Hlcs C T 16: 94,069,398 (GRCm39) V164I possibly damaging Het
Hmgcr G A 13: 96,802,701 (GRCm39) T66M probably damaging Het
Ifi206 A T 1: 173,308,432 (GRCm39) H521Q probably benign Het
Lgals3bp G A 11: 118,284,340 (GRCm39) T413I probably damaging Het
Lrrc7 A G 3: 157,832,850 (GRCm39) probably null Het
Mapk11 T C 15: 89,033,691 (GRCm39) Y9C probably damaging Het
Mccc1 C A 3: 36,030,022 (GRCm39) M429I probably damaging Het
Metrnl A G 11: 121,598,750 (GRCm39) E40G probably benign Het
Mrgpra1 A G 7: 46,985,218 (GRCm39) S154P probably damaging Het
Myh13 A T 11: 67,232,096 (GRCm39) I459F probably damaging Het
Nalf1 T C 8: 9,258,026 (GRCm39) Y374C probably damaging Het
Nedd4l C A 18: 65,305,998 (GRCm39) D424E probably damaging Het
Nid1 C T 13: 13,674,326 (GRCm39) R902W probably damaging Het
Nphp4 G A 4: 152,639,003 (GRCm39) R878K probably benign Het
Numa1 A G 7: 101,662,773 (GRCm39) T1997A probably damaging Het
Nutm1 G A 2: 112,079,281 (GRCm39) A878V probably benign Het
Oas1b C A 5: 120,952,578 (GRCm39) Q90K probably benign Het
Optn T C 2: 5,059,438 (GRCm39) M27V probably benign Het
Or1r1 A G 11: 73,874,834 (GRCm39) F200S probably damaging Het
Or2t35 A C 14: 14,407,729 (GRCm38) Y167S possibly damaging Het
Or4f56 A T 2: 111,703,395 (GRCm39) D268E possibly damaging Het
Or5ac17 G T 16: 59,036,222 (GRCm39) F251L probably damaging Het
Or5d45 A G 2: 88,153,500 (GRCm39) I183T probably damaging Het
Or5g29 A G 2: 85,421,282 (GRCm39) T133A probably benign Het
Or5h18 G T 16: 58,848,260 (GRCm39) D3E probably benign Het
Oxgr1 T C 14: 120,259,776 (GRCm39) I144V probably benign Het
Pax5 T A 4: 44,570,086 (GRCm39) T127S probably damaging Het
Pcsk2 T C 2: 143,529,599 (GRCm39) probably null Het
Pdxk A G 10: 78,300,626 (GRCm39) V19A possibly damaging Het
Pik3c2a A T 7: 116,017,060 (GRCm39) S232R probably damaging Het
Ppip5k1 T C 2: 121,171,329 (GRCm39) D620G possibly damaging Het
Ppp4r4 T A 12: 103,557,117 (GRCm39) probably null Het
Psmd1 A G 1: 86,006,434 (GRCm39) N267D probably damaging Het
Pudp A G 18: 50,701,136 (GRCm39) V199A probably damaging Het
Rasal3 T A 17: 32,615,755 (GRCm39) D361V probably damaging Het
Rbm12 T C 2: 155,938,484 (GRCm39) D596G possibly damaging Het
Rbm6 T C 9: 107,730,102 (GRCm39) D182G probably damaging Het
Rif1 T C 2: 52,002,759 (GRCm39) V2071A probably damaging Het
Rilp C T 11: 75,401,467 (GRCm39) A110V possibly damaging Het
Rprd2 A G 3: 95,681,645 (GRCm39) V332A probably benign Het
Sbpl T A 17: 24,172,304 (GRCm39) D205V unknown Het
Scn9a T C 2: 66,370,967 (GRCm39) I538V probably benign Het
Serpina1d T C 12: 103,734,083 (GRCm39) S74G possibly damaging Het
Serpina3n T C 12: 104,375,369 (GRCm39) I147T possibly damaging Het
Serpinb8 A G 1: 107,532,472 (GRCm39) N188S probably benign Het
Sipa1l3 A G 7: 29,077,066 (GRCm39) V902A probably damaging Het
Slc25a47 T A 12: 108,821,260 (GRCm39) L123Q probably damaging Het
Slc30a2 A T 4: 134,071,317 (GRCm39) probably null Het
Slc66a1 G T 4: 139,027,312 (GRCm39) H343Q probably benign Het
Snx13 T A 12: 35,148,285 (GRCm39) D271E probably damaging Het
Tbc1d9b A G 11: 50,062,125 (GRCm39) N1211S probably benign Het
Tdrd3 T A 14: 87,709,537 (GRCm39) I67N probably damaging Het
Thbs1 T C 2: 117,945,273 (GRCm39) V282A probably benign Het
Tmc8 A G 11: 117,682,431 (GRCm39) probably null Het
Trim11 T A 11: 58,879,750 (GRCm39) F284Y probably null Het
Ttn G T 2: 76,552,141 (GRCm39) Y29419* probably null Het
Ttn A G 2: 76,599,947 (GRCm39) Y19076H probably damaging Het
Ubr4 T C 4: 139,149,044 (GRCm39) S448P possibly damaging Het
Ugt2b34 T C 5: 87,039,332 (GRCm39) E443G probably damaging Het
Usp29 A G 7: 6,964,390 (GRCm39) T78A probably damaging Het
Vmn1r227 A G 17: 20,955,396 (GRCm39) noncoding transcript Het
Vmn1r85 A T 7: 12,818,788 (GRCm39) W119R probably damaging Het
Vmn2r12 A T 5: 109,234,379 (GRCm39) V611E probably damaging Het
Vmn2r97 A T 17: 19,149,550 (GRCm39) M313L probably benign Het
Zap70 T C 1: 36,818,254 (GRCm39) Y314H probably damaging Het
Zfp667 T A 7: 6,308,684 (GRCm39) F451I possibly damaging Het
Other mutations in Nxf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00228:Nxf1 APN 19 8,740,106 (GRCm39) missense possibly damaging 0.95
IGL02318:Nxf1 APN 19 8,741,514 (GRCm39) critical splice donor site probably null
IGL03383:Nxf1 APN 19 8,741,061 (GRCm39) missense probably damaging 1.00
Chance UTSW 19 8,746,546 (GRCm39) missense probably damaging 1.00
Necessity UTSW 19 8,745,118 (GRCm39) missense probably damaging 1.00
Possibility UTSW 19 8,745,108 (GRCm39) missense probably damaging 1.00
Probability UTSW 19 8,741,681 (GRCm39) missense probably benign 0.01
R0125:Nxf1 UTSW 19 8,740,170 (GRCm39) missense probably benign 0.37
R0362:Nxf1 UTSW 19 8,741,515 (GRCm39) critical splice donor site probably null
R0374:Nxf1 UTSW 19 8,745,103 (GRCm39) missense possibly damaging 0.86
R0403:Nxf1 UTSW 19 8,742,392 (GRCm39) missense probably damaging 1.00
R0883:Nxf1 UTSW 19 8,741,955 (GRCm39) missense probably damaging 1.00
R1004:Nxf1 UTSW 19 8,741,681 (GRCm39) missense probably benign 0.01
R1068:Nxf1 UTSW 19 8,740,118 (GRCm39) missense probably damaging 0.97
R1503:Nxf1 UTSW 19 8,739,800 (GRCm39) missense probably benign
R1669:Nxf1 UTSW 19 8,749,495 (GRCm39) missense possibly damaging 0.93
R1679:Nxf1 UTSW 19 8,746,438 (GRCm39) missense probably benign
R4424:Nxf1 UTSW 19 8,744,128 (GRCm39) utr 3 prime probably benign
R4608:Nxf1 UTSW 19 8,740,127 (GRCm39) missense probably benign 0.03
R4969:Nxf1 UTSW 19 8,739,669 (GRCm39) splice site probably null
R5233:Nxf1 UTSW 19 8,741,293 (GRCm39) missense possibly damaging 0.67
R5370:Nxf1 UTSW 19 8,749,504 (GRCm39) missense probably damaging 1.00
R6024:Nxf1 UTSW 19 8,745,108 (GRCm39) missense probably damaging 1.00
R6058:Nxf1 UTSW 19 8,745,186 (GRCm39) missense probably damaging 1.00
R6063:Nxf1 UTSW 19 8,745,151 (GRCm39) missense possibly damaging 0.46
R6293:Nxf1 UTSW 19 8,746,546 (GRCm39) missense probably damaging 1.00
R6378:Nxf1 UTSW 19 8,741,910 (GRCm39) missense probably benign 0.19
R8170:Nxf1 UTSW 19 8,748,414 (GRCm39) missense probably benign 0.02
R8317:Nxf1 UTSW 19 8,748,407 (GRCm39) missense probably benign
R9110:Nxf1 UTSW 19 8,745,118 (GRCm39) missense probably damaging 1.00
R9506:Nxf1 UTSW 19 8,749,508 (GRCm39) missense probably damaging 0.99
R9701:Nxf1 UTSW 19 8,739,772 (GRCm39) missense probably damaging 1.00
R9802:Nxf1 UTSW 19 8,739,772 (GRCm39) missense probably damaging 1.00
RF021:Nxf1 UTSW 19 8,749,673 (GRCm39) missense probably damaging 1.00
X0024:Nxf1 UTSW 19 8,741,128 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- AACAGAGCCAGCCTTCAAGG -3'
(R):5'- CCTATATAAACTTTGTCCACAGGC -3'

Sequencing Primer
(F):5'- CCTTCAAGGCAATTAAGAAGGG -3'
(R):5'- GTCCACAGGCATTTCTAAGATG -3'
Posted On 2015-12-29