Incidental Mutation 'IGL03217:Nxf2'
ID413515
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 #IGL03217
Quality Score
Status
ChromosomeX
Chromosomal Location134944526-134964754 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 134955532 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 287 (I287V)
Ref Sequence ENSEMBL: ENSMUSP00000108812 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010085] [ENSMUST00000113187] [ENSMUST00000113189]
Predicted Effect probably benign
Transcript: ENSMUST00000010085
AA Change: I301V

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000010085
Gene: ENSMUSG00000009941
AA Change: I301V

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 probably benign
Transcript: ENSMUST00000113187
AA Change: I287V

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000108812
Gene: ENSMUSG00000009941
AA Change: I287V

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 benign
Transcript: ENSMUST00000113189
AA Change: I301V

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000108814
Gene: ENSMUSG00000009941
AA Change: I301V

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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas A G 15: 102,349,995 I29T probably damaging Het
Adam2 G A 14: 66,034,813 P640L possibly damaging Het
Ccl4 T C 11: 83,662,678 S6P unknown Het
Cd300lf T A 11: 115,124,291 T151S possibly damaging Het
Elk4 A G 1: 132,018,040 T219A probably benign Het
Eml1 G T 12: 108,534,942 E680D probably benign Het
Gm9755 T C 8: 67,514,383 noncoding transcript Het
Hmcn1 A T 1: 150,743,667 I1232N possibly damaging Het
Maml2 T C 9: 13,619,999 S170P probably damaging Het
Mettl16 T A 11: 74,817,703 M536K probably damaging Het
Nelfcd G A 2: 174,426,832 A559T possibly damaging Het
Nyap2 A G 1: 81,087,322 D17G probably damaging Het
Pde6b T C 5: 108,419,566 C270R probably damaging Het
Ptchd1 T C X: 155,573,959 D750G probably damaging Het
Rrn3 G A 16: 13,809,011 E490K possibly damaging Het
Slc27a2 G A 2: 126,586,252 G519D possibly damaging Het
Sox5 A G 6: 143,907,497 S352P probably damaging Het
Spg20 G T 3: 55,128,491 probably benign Het
Sult1e1 T C 5: 87,590,088 T45A possibly damaging Het
Tat G A 8: 109,995,186 V242I probably benign Het
Zfp442 A G 2: 150,409,794 probably benign 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
IGL02485:Nxf2 APN X 134956467 missense probably damaging 0.99
IGL02561:Nxf2 APN X 134956452 missense probably benign 0.06
Posted On2016-08-02