Incidental Mutation 'IGL01139:Nxf2'
ID 53363
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nxf2
Ensembl Gene ENSMUSG00000009941
Gene Name nuclear RNA export factor 2
Synonyms 4930455N06Rik, Nxf-b
Accession Numbers
Essential gene? Not available question?
Stock # IGL01139
Quality Score
Status
Chromosome X
Chromosomal Location 133845275-133865503 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 133851145 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 578 (I578V)
Ref Sequence ENSEMBL: ENSMUSP00000010085 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010085] [ENSMUST00000113187] [ENSMUST00000113189]
AlphaFold Q4ZGD8
Predicted Effect probably benign
Transcript: ENSMUST00000010085
AA Change: I578V

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000010085
Gene: ENSMUSG00000009941
AA Change: I578V

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: I564V

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000108812
Gene: ENSMUSG00000009941
AA Change: I564V

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: I578V

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000108814
Gene: ENSMUSG00000009941
AA Change: I578V

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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm5 A T 4: 144,504,259 (GRCm39) Y297* probably null Het
Actr3 A T 1: 125,333,622 (GRCm39) I215N probably damaging Het
Ambn C T 5: 88,612,376 (GRCm39) probably benign Het
Arhgef1 T A 7: 24,625,376 (GRCm39) probably benign Het
Arid1a A C 4: 133,421,308 (GRCm39) S832R unknown Het
Clca4a A T 3: 144,672,030 (GRCm39) I304N probably damaging Het
Dmxl2 G A 9: 54,366,248 (GRCm39) P274S probably damaging Het
Eif4enif1 T A 11: 3,171,143 (GRCm39) D211E probably damaging Het
Eri2 A G 7: 119,385,960 (GRCm39) probably null Het
Fhod3 C T 18: 25,199,401 (GRCm39) P691S probably benign Het
Flnb A G 14: 7,945,989 (GRCm38) S2465G probably damaging Het
Ftsj1 G A X: 8,112,831 (GRCm39) R171C probably damaging Het
Glb1l3 G A 9: 26,729,523 (GRCm39) T648I probably benign Het
Gm4222 T A 2: 89,978,889 (GRCm39) probably benign Het
Gm5475 G A 15: 100,322,096 (GRCm39) probably benign Het
Jaml C A 9: 45,012,317 (GRCm39) T268N possibly damaging Het
Kank3 G A 17: 34,036,375 (GRCm39) G81E probably damaging Het
Lrba A G 3: 86,549,969 (GRCm39) T217A possibly damaging Het
Ltn1 A G 16: 87,212,897 (GRCm39) S555P probably benign Het
Map3k15 T A X: 158,855,875 (GRCm39) M350K probably damaging Het
Mipol1 C A 12: 57,352,821 (GRCm39) Y53* probably null Het
Mn1 A G 5: 111,569,315 (GRCm39) D1095G probably damaging Het
Myh14 T C 7: 44,255,716 (GRCm39) probably benign Het
Nrn1 A G 13: 36,914,190 (GRCm39) C31R probably damaging Het
Nup210 A T 6: 91,007,079 (GRCm39) L579H possibly damaging Het
Obscn G A 11: 58,969,178 (GRCm39) A172V probably damaging Het
Or10h1b T A 17: 33,395,756 (GRCm39) Y123N probably damaging Het
Or9g4 T G 2: 85,504,841 (GRCm39) Y218S probably damaging Het
Phtf1 A G 3: 103,912,918 (GRCm39) D748G probably damaging Het
Psd3 A T 8: 68,361,187 (GRCm39) Y863N probably damaging Het
Psmc6 C T 14: 45,581,167 (GRCm39) T321I probably benign Het
Rassf6 T C 5: 90,756,825 (GRCm39) *31W probably null Het
Rictor A C 15: 6,807,749 (GRCm39) K791Q probably damaging Het
Slc12a9 C T 5: 137,321,104 (GRCm39) M470I probably damaging Het
Tex28 A T X: 73,194,830 (GRCm39) M367K possibly damaging Het
Thnsl2 A T 6: 71,115,718 (GRCm39) V163D probably damaging Het
Tmco3 G A 8: 13,369,887 (GRCm39) R633Q possibly damaging Het
Trf A T 9: 103,100,803 (GRCm39) V224D probably damaging Het
Ttc8 C T 12: 98,930,804 (GRCm39) Q273* probably null Het
Usp9x A G X: 12,970,815 (GRCm39) probably benign Het
Vmn2r117 A G 17: 23,696,778 (GRCm39) W210R probably damaging Het
Vmn2r5 A G 3: 64,398,826 (GRCm39) S718P probably benign Het
Vps13a T C 19: 16,617,989 (GRCm39) D2932G probably damaging Het
Whamm T C 7: 81,245,662 (GRCm39) L706P probably damaging Het
Yeats2 G A 16: 20,033,143 (GRCm39) V45I probably damaging Het
Yipf3 G A 17: 46,561,383 (GRCm39) probably null Het
Zeb1 T C 18: 5,705,061 (GRCm39) V26A possibly damaging Het
Other mutations in Nxf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01411:Nxf2 APN X 133,852,861 (GRCm39) missense probably benign 0.00
IGL02166:Nxf2 APN X 133,857,878 (GRCm39) missense possibly damaging 0.88
IGL02485:Nxf2 APN X 133,857,216 (GRCm39) missense probably damaging 0.99
IGL02561:Nxf2 APN X 133,857,201 (GRCm39) missense probably benign 0.06
IGL03217:Nxf2 APN X 133,856,281 (GRCm39) missense probably benign 0.12
Posted On 2013-06-21