Incidental Mutation 'IGL01411:Nxf2'
ID80005
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 #IGL01411
Quality Score
Status
ChromosomeX
Chromosomal Location134944526-134964754 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 134952112 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Serine at position 367 (R367S)
Ref Sequence ENSEMBL: ENSMUSP00000108814 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010085] [ENSMUST00000113187] [ENSMUST00000113189]
Predicted Effect probably benign
Transcript: ENSMUST00000010085
AA Change: R367S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000010085
Gene: ENSMUSG00000009941
AA Change: R367S

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: R353S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000108812
Gene: ENSMUSG00000009941
AA Change: R353S

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: R367S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000108814
Gene: ENSMUSG00000009941
AA Change: R367S

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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf G A 19: 31,911,229 E36K possibly damaging Het
Alox8 A T 11: 69,188,690 S257R probably benign Het
Apc2 T C 10: 80,315,078 S1960P probably damaging Het
Arhgap35 T C 7: 16,564,267 N291S probably benign Het
AW551984 A T 9: 39,593,791 D468E possibly damaging Het
B3gnt6 A C 7: 98,194,523 F77V probably damaging Het
C1qtnf7 A T 5: 43,609,061 M1L probably benign Het
Calm3 T C 7: 16,917,484 T63A probably benign Het
Ccdc33 G A 9: 58,117,636 probably benign Het
Cdh4 C T 2: 179,780,403 R107C probably damaging Het
Cdr2l A G 11: 115,382,366 E15G probably damaging Het
Chil6 A G 3: 106,388,825 W365R probably damaging Het
Ckap5 G T 2: 91,601,011 R1525L probably benign Het
Col6a6 T A 9: 105,785,958 K127* probably null Het
Dclre1b A G 3: 103,803,323 V298A probably damaging Het
Fat1 T A 8: 45,026,800 V2961E probably damaging Het
Fhit T C 14: 9,573,483 D126G probably benign Het
Gpc1 T C 1: 92,857,014 F303S probably damaging Het
Hsd17b4 T A 18: 50,191,814 V698D probably damaging Het
Itpr2 C T 6: 146,376,062 probably null Het
Klhl4 A T X: 114,522,394 D168V probably damaging Het
Krt42 A G 11: 100,263,341 L405P possibly damaging Het
Lrp1 A T 10: 127,581,765 C85* probably null Het
Lrp2 A G 2: 69,482,267 L2559P probably damaging Het
Maob T G X: 16,712,569 R448S possibly damaging Het
Mast3 A G 8: 70,779,583 V1250A possibly damaging Het
Mfsd4b5 C T 10: 39,970,727 V286M probably damaging Het
Mlip A G 9: 77,239,417 I198T possibly damaging Het
Mocs3 T C 2: 168,231,377 V248A probably damaging Het
Olfr1404 T G 1: 173,216,128 V159G probably benign Het
Olfr617 T C 7: 103,584,117 W32R probably damaging Het
Parva T C 7: 112,577,010 probably benign Het
Pot1a A T 6: 25,750,144 probably benign Het
Ptpra T C 2: 130,544,439 I603T probably damaging Het
Rad9a T C 19: 4,201,337 K33E probably benign Het
Rimbp3 A G 16: 17,211,094 D794G probably damaging Het
Sept5 G A 16: 18,624,930 R90C probably damaging Het
Skint8 T A 4: 111,936,906 N164K probably damaging Het
Slc30a3 T G 5: 31,090,080 I73L probably benign Het
Stab2 A T 10: 86,980,008 probably benign Het
Tnc C T 4: 64,000,722 V1155M probably damaging Het
Ttc13 T G 8: 124,683,285 Q525P probably damaging Het
Ttn T C 2: 76,720,135 E31601G probably damaging Het
Unc5a A T 13: 55,002,928 D577V probably damaging Het
Usp18 G A 6: 121,261,421 V176M probably benign Het
Vmn1r184 T C 7: 26,266,895 V22A probably benign Het
Vmn1r33 T A 6: 66,611,881 I230F probably damaging Het
Vmn1r51 A G 6: 90,129,404 I101V probably benign Het
Vmn2r108 T A 17: 20,471,020 M414L probably benign Het
Vmn2r87 A C 10: 130,472,560 V603G probably benign Het
Wt1 A G 2: 105,132,974 Y16C probably damaging Het
Wwp2 C T 8: 107,506,345 T159I probably benign Het
Xirp2 T C 2: 67,514,083 F2223L probably benign Het
Zan T A 5: 137,388,893 H4966L unknown Het
Other mutations in Nxf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01139:Nxf2 APN X 134950396 missense probably benign 0.17
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
IGL03217:Nxf2 APN X 134955532 missense probably benign 0.12
Posted On2013-11-05