Incidental Mutation 'IGL02485:Nxf2'
ID295390
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nxf2
Ensembl Gene ENSMUSG00000009941
Gene Namenuclear RNA export factor 2
SynonymsNxf-b, 4930455N06Rik
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL02485
Quality Score
Status
ChromosomeX
Chromosomal Location134944526-134964754 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 134956467 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 158 (F158L)
Ref Sequence ENSEMBL: ENSMUSP00000108814 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010085] [ENSMUST00000113187] [ENSMUST00000113189]
Predicted Effect probably benign
Transcript: ENSMUST00000010085
AA Change: F158L

PolyPhen 2 Score 0.219 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000010085
Gene: ENSMUSG00000009941
AA Change: F158L

DomainStartEndE-ValueType
Pfam:Tap-RNA_bind 122 205 4e-41 PFAM
low complexity region 314 329 N/A INTRINSIC
internal_repeat_1 358 392 1.07e-10 PROSPERO
internal_repeat_1 397 431 1.07e-10 PROSPERO
Pfam:NTF2 454 610 9.6e-10 PFAM
TAP_C 629 691 3.7e-24 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000113187
AA Change: F144L

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000108812
Gene: ENSMUSG00000009941
AA Change: F144L

DomainStartEndE-ValueType
Pfam:Tap-RNA_bind 105 192 8.7e-44 PFAM
low complexity region 300 315 N/A INTRINSIC
internal_repeat_1 344 378 9.61e-11 PROSPERO
internal_repeat_1 383 417 9.61e-11 PROSPERO
Pfam:NTF2 440 590 1.7e-11 PFAM
TAP_C 609 671 3.7e-24 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000113189
AA Change: F158L

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000108814
Gene: ENSMUSG00000009941
AA Change: F158L

DomainStartEndE-ValueType
Pfam:Tap-RNA_bind 119 206 8.6e-44 PFAM
low complexity region 314 329 N/A INTRINSIC
internal_repeat_1 358 392 1.08e-10 PROSPERO
internal_repeat_1 397 431 1.08e-10 PROSPERO
Pfam:NTF2 454 604 1.4e-11 PFAM
TAP_C 623 685 3.7e-24 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143059
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Male mice heterogyzous for the null allele exhibit reduced fertility associated with abnormal meiosis or reduced spermatogonia proliferation depending on strain background. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930430A15Rik A T 2: 111,228,325 V94E probably damaging Het
Agl A G 3: 116,779,080 S841P probably benign Het
BC003331 A G 1: 150,363,489 probably null Het
Cd59b A C 2: 104,081,104 probably benign Het
Dopey2 T C 16: 93,770,822 L1379P probably damaging Het
Ercc2 G A 7: 19,394,045 A433T possibly damaging Het
Gm17175 T C 14: 51,569,611 probably benign Het
Gm5150 A T 3: 15,990,752 I103N probably damaging Het
Igf1 A G 10: 87,864,746 M11V probably benign Het
Incenp T C 19: 9,893,368 N299S unknown Het
Maneal A T 4: 124,856,770 S398T probably damaging Het
Map1a A G 2: 121,299,288 N195S probably damaging Het
Mars2 T C 1: 55,237,591 F118L possibly damaging Het
Mast4 A G 13: 102,735,496 S2263P probably benign Het
Mrgprb1 C A 7: 48,447,717 R149L possibly damaging Het
Myo1d T C 11: 80,666,581 D511G probably damaging Het
Ntan1 T C 16: 13,834,676 probably benign Het
Olfr1513 T A 14: 52,350,044 M1L possibly damaging Het
Trpm1 C T 7: 64,269,114 A734V possibly damaging Het
Upf2 G A 2: 6,027,291 E883K unknown Het
Ush1c T C 7: 46,229,250 I83V probably damaging Het
Vmn2r60 C A 7: 42,195,466 T751N possibly damaging Het
Zfp146 A G 7: 30,162,590 I9T probably benign Het
Zfp592 G A 7: 81,037,970 probably benign Het
Zswim8 C T 14: 20,711,887 L243F probably damaging Het
Other mutations in Nxf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01139:Nxf2 APN X 134950396 missense probably benign 0.17
IGL01411:Nxf2 APN X 134952112 missense probably benign 0.00
IGL02166:Nxf2 APN X 134957129 missense possibly damaging 0.88
IGL02561:Nxf2 APN X 134956452 missense probably benign 0.06
IGL03217:Nxf2 APN X 134955532 missense probably benign 0.12
Posted On2015-04-16