Incidental Mutation 'IGL02166:Nxf2'
ID 282691
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 # IGL02166
Quality Score
Status
Chromosome X
Chromosomal Location 133845275-133865503 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 133857878 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Leucine at position 89 (W89L)
Ref Sequence ENSEMBL: ENSMUSP00000108812 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010085] [ENSMUST00000113187] [ENSMUST00000113189]
AlphaFold Q4ZGD8
Predicted Effect possibly damaging
Transcript: ENSMUST00000010085
AA Change: W103L

PolyPhen 2 Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000010085
Gene: ENSMUSG00000009941
AA Change: W103L

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: W89L

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000108812
Gene: ENSMUSG00000009941
AA Change: W89L

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: W103L

PolyPhen 2 Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000108814
Gene: ENSMUSG00000009941
AA Change: W103L

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aopep A G 13: 63,163,267 (GRCm39) H96R probably benign Het
Brd8 C T 18: 34,735,780 (GRCm39) S899N probably damaging Het
Cdh8 T C 8: 99,917,083 (GRCm39) D344G probably damaging Het
Ciao3 A G 17: 25,999,294 (GRCm39) D236G possibly damaging Het
Cltc T C 11: 86,594,914 (GRCm39) I1399V probably benign Het
Col4a1 A T 8: 11,294,509 (GRCm39) probably benign Het
Crtc3 C T 7: 80,327,147 (GRCm39) G60R probably damaging Het
Dscaml1 G A 9: 45,594,999 (GRCm39) V701M probably damaging Het
Eif3b T A 5: 140,425,705 (GRCm39) C632S possibly damaging Het
Ephb3 G A 16: 21,039,499 (GRCm39) R417Q probably damaging Het
Fpr3 T C 17: 18,190,726 (GRCm39) probably benign Het
Hpdl A G 4: 116,678,149 (GRCm39) V104A probably damaging Het
Ighv1-55 T C 12: 115,171,840 (GRCm39) S76G probably benign Het
Ikbip T C 10: 90,931,652 (GRCm39) S99P probably damaging Het
Lnpk T C 2: 74,360,061 (GRCm39) E318G probably damaging Het
Lrrc66 G A 5: 73,764,634 (GRCm39) T803M probably damaging Het
Or2y11 A G 11: 49,442,757 (GRCm39) Y61C probably damaging Het
Or5d46 A T 2: 88,170,022 (GRCm39) I38F probably damaging Het
Or6c3b T A 10: 129,527,782 (GRCm39) I43F probably benign Het
Osbp2 A T 11: 3,667,983 (GRCm39) C5S probably damaging Het
Ovol2 T C 2: 144,147,650 (GRCm39) N200S possibly damaging Het
Ppp4r1 A G 17: 66,120,487 (GRCm39) D207G probably benign Het
Prdm11 C T 2: 92,843,208 (GRCm39) V84M probably damaging Het
Rspo3 T A 10: 29,411,275 (GRCm39) E17V possibly damaging Het
Scarf2 A G 16: 17,621,620 (GRCm39) N357D probably damaging Het
Scn9a A T 2: 66,323,447 (GRCm39) D1447E possibly damaging Het
Sdad1 G A 5: 92,439,621 (GRCm39) T433I probably benign Het
Seh1l A G 18: 67,918,093 (GRCm39) N149S probably damaging Het
Sigirr T C 7: 140,672,140 (GRCm39) I268M probably benign Het
Slc35d2 A G 13: 64,246,162 (GRCm39) F282S probably damaging Het
Slc4a1 A T 11: 102,245,159 (GRCm39) M596K probably damaging Het
Spta1 G A 1: 174,017,797 (GRCm39) E494K probably damaging Het
Stk32b C A 5: 37,656,374 (GRCm39) probably benign Het
Tex13b T C X: 139,713,475 (GRCm39) E122G probably damaging Het
Tmem35a A G X: 133,205,357 (GRCm39) N91S probably damaging Het
Tmem67 A G 4: 12,047,313 (GRCm39) V841A possibly damaging Het
Trdv2-1 A G 14: 54,184,068 (GRCm39) D100G probably benign Het
Tshz3 T C 7: 36,468,346 (GRCm39) S112P probably benign Het
Tssc4 T C 7: 142,623,938 (GRCm39) M82T probably benign Het
Ttn A G 2: 76,562,723 (GRCm39) S28744P probably damaging Het
Unc45b C T 11: 82,831,007 (GRCm39) probably benign Het
Vim T C 2: 13,579,405 (GRCm39) S55P probably damaging Het
Zmat5 T A 11: 4,687,363 (GRCm39) Y139N possibly damaging Het
Zswim2 G A 2: 83,745,750 (GRCm39) Q563* probably null Het
Other mutations in Nxf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01139:Nxf2 APN X 133,851,145 (GRCm39) missense probably benign 0.17
IGL01411:Nxf2 APN X 133,852,861 (GRCm39) missense probably benign 0.00
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 2015-04-16