Incidental Mutation 'R5370:Nxf1'
ID 429621
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 042947-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5370 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 8734467-8748274 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 8749504 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 134 (T134A)
Ref Sequence ENSEMBL: ENSMUSP00000010248 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003777] [ENSMUST00000010241] [ENSMUST00000010248] [ENSMUST00000010249] [ENSMUST00000176496] [ENSMUST00000176610] [ENSMUST00000177216] [ENSMUST00000189739] [ENSMUST00000184970] [ENSMUST00000177056]
AlphaFold Q99JX7
Predicted Effect probably benign
Transcript: ENSMUST00000003777
SMART Domains Protein: ENSMUSP00000003777
Gene: ENSMUSG00000003680

DomainStartEndE-ValueType
TAF 16 79 9.03e-28 SMART
Pfam:DUF1546 248 339 4.5e-29 PFAM
low complexity region 565 576 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000010241
SMART Domains Protein: ENSMUSP00000010241
Gene: ENSMUSG00000010097

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 damaging
Transcript: ENSMUST00000010248
AA Change: T134A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000010248
Gene: ENSMUSG00000010097
AA Change: T134A

DomainStartEndE-ValueType
Pfam:TMEM223 32 197 6.5e-64 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000010249
SMART Domains Protein: ENSMUSP00000010249
Gene: ENSMUSG00000003680

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
low complexity region 45 62 N/A INTRINSIC
transmembrane domain 64 86 N/A INTRINSIC
transmembrane domain 98 120 N/A INTRINSIC
low complexity region 173 182 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176080
Predicted Effect probably benign
Transcript: ENSMUST00000176496
SMART Domains Protein: ENSMUSP00000135090
Gene: ENSMUSG00000003680

DomainStartEndE-ValueType
TAF 17 80 9.03e-28 SMART
Pfam:DUF1546 224 315 4.3e-29 PFAM
low complexity region 541 552 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185056
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184387
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184808
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176747
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183780
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183898
Predicted Effect probably benign
Transcript: ENSMUST00000184826
Predicted Effect probably benign
Transcript: ENSMUST00000176610
SMART Domains Protein: ENSMUSP00000135193
Gene: ENSMUSG00000003680

DomainStartEndE-ValueType
TAF 17 80 9.03e-28 SMART
Pfam:TAF6_C 249 338 6.6e-22 PFAM
low complexity region 566 577 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000177216
SMART Domains Protein: ENSMUSP00000135220
Gene: ENSMUSG00000003680

DomainStartEndE-ValueType
TAF 17 80 9.03e-28 SMART
Pfam:DUF1546 249 340 6.4e-29 PFAM
low complexity region 566 577 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000189739
SMART Domains Protein: ENSMUSP00000140136
Gene: ENSMUSG00000003680

DomainStartEndE-ValueType
TAF 16 79 3.8e-31 SMART
Pfam:DUF1546 223 314 6.3e-26 PFAM
low complexity region 540 551 N/A INTRINSIC
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: ENSMUST00000177056
SMART Domains Protein: ENSMUSP00000135028
Gene: ENSMUSG00000003680

DomainStartEndE-ValueType
TAF 10 73 9.03e-28 SMART
Pfam:DUF1546 242 333 4.5e-29 PFAM
low complexity region 559 570 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 92.6%
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb8 C T 5: 24,605,137 (GRCm39) R108C possibly damaging Het
Armc3 A C 2: 19,290,873 (GRCm39) T451P probably benign Het
Ass1 G A 2: 31,408,745 (GRCm39) V379M possibly damaging Het
Cdhr2 A G 13: 54,868,700 (GRCm39) Y554C probably damaging Het
Clec4g C A 8: 3,768,344 (GRCm39) R129L probably benign Het
Dip2b C T 15: 100,109,867 (GRCm39) R1451C probably damaging Het
Dnah9 T A 11: 65,920,180 (GRCm39) T2238S probably damaging Het
Dner CGCTGCTGCTGCTGCTGCTGCTGCTGC CGCTGCTGCTGCTGCTGCTGCTGC 1: 84,563,270 (GRCm39) probably benign Het
Ephb2 T C 4: 136,498,881 (GRCm39) E66G probably benign Het
Fam169a T A 13: 97,243,470 (GRCm39) C167S probably damaging Het
Ggcx T C 6: 72,402,914 (GRCm39) S291P possibly damaging Het
Gsdme T A 6: 50,206,286 (GRCm39) I186F probably damaging Het
Gzma T A 13: 113,232,329 (GRCm39) M191L probably damaging Het
Heatr1 T A 13: 12,416,403 (GRCm39) S226T probably benign Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Hs6st1 T A 1: 36,108,162 (GRCm39) S142T probably damaging Het
Ighv3-5 A G 12: 114,226,518 (GRCm39) V36A probably benign Het
Leng8 A G 7: 4,148,433 (GRCm39) D735G possibly damaging Het
Mapk13 T A 17: 28,995,326 (GRCm39) Y182* probably null Het
Mrgprb8 A T 7: 48,038,568 (GRCm39) T80S probably benign Het
Myom2 G A 8: 15,149,343 (GRCm39) A605T probably benign Het
Or2n1d G T 17: 38,646,335 (GRCm39) G96* probably null Het
Padi3 C A 4: 140,537,849 (GRCm39) E24* probably null Het
Pcdhga3 T A 18: 37,808,343 (GRCm39) D265E probably damaging Het
Pros1 A T 16: 62,734,339 (GRCm39) I382L probably benign Het
Ptpn23 A G 9: 110,214,769 (GRCm39) V1544A possibly damaging Het
Rhoh G T 5: 66,049,921 (GRCm39) A64S probably benign Het
Rnf115 A G 3: 96,665,336 (GRCm39) T69A probably benign Het
Taf5 A G 19: 47,064,203 (GRCm39) E382G probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Vmn2r104 A T 17: 20,250,450 (GRCm39) I607N probably damaging Het
Vmn2r11 T C 5: 109,195,421 (GRCm39) Y635C probably damaging Het
Vwa5a A G 9: 38,652,512 (GRCm39) D765G probably benign Het
Wnk2 T C 13: 49,256,437 (GRCm39) D228G probably damaging Het
Xirp2 A G 2: 67,342,496 (GRCm39) D1579G 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
R4783:Nxf1 UTSW 19 8,744,162 (GRCm39) missense probably benign 0.01
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
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'- TATGATGGCATCCAGATGTAATCTG -3'
(R):5'- TTTTCACAGGCTCCGGTAGG -3'

Sequencing Primer
(F):5'- TGGAACTCACTCTGTAGACCAGG -3'
(R):5'- CCCACAGTGTTATCAAAGAGTTGAG -3'
Posted On 2016-09-06