Incidental Mutation 'IGL02000:Xpo1'
ID 183008
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Xpo1
Ensembl Gene ENSMUSG00000020290
Gene Name exportin 1
Synonyms Crm1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02000
Quality Score
Status
Chromosome 11
Chromosomal Location 23206041-23248249 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 23246003 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 1038 (R1038G)
Ref Sequence ENSEMBL: ENSMUSP00000105178 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020538] [ENSMUST00000102869] [ENSMUST00000102870] [ENSMUST00000109551]
AlphaFold Q6P5F9
PDB Structure Crystal Structure of the Nuclear Export Complex CRM1-Snurportin1-RanGTP [X-RAY DIFFRACTION]
Crystal structure of the PKI NES-CRM1-RanGTP nuclear export complex [X-RAY DIFFRACTION]
Crystal structure of the HIV-1 Rev NES-CRM1-RanGTP nuclear export complex (crystal I) [X-RAY DIFFRACTION]
Crystal structure of the HIV-1 Rev NES-CRM1-RanGTP nuclear export complex (crystal II) [X-RAY DIFFRACTION]
Crystal structure of the CRM1-RanGTP complex [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000020538
AA Change: R1038G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000020538
Gene: ENSMUSG00000020290
AA Change: R1038G

DomainStartEndE-ValueType
IBN_N 46 112 2.3e-10 SMART
Pfam:Xpo1 123 268 1.3e-44 PFAM
Blast:IL1 407 518 9e-14 BLAST
Blast:CRM1_C 590 699 1e-22 BLAST
CRM1_C 709 1027 4.63e-211 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000102869
AA Change: R1038G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099933
Gene: ENSMUSG00000020290
AA Change: R1038G

DomainStartEndE-ValueType
IBN_N 46 112 2.3e-10 SMART
Pfam:Xpo1 123 268 7.4e-44 PFAM
Blast:IL1 407 518 9e-14 BLAST
Blast:CRM1_C 590 699 1e-22 BLAST
CRM1_C 709 1027 4.63e-211 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000102870
AA Change: R1038G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099934
Gene: ENSMUSG00000020290
AA Change: R1038G

DomainStartEndE-ValueType
IBN_N 46 112 2.3e-10 SMART
Pfam:Xpo1 123 268 1.3e-44 PFAM
Blast:IL1 407 518 9e-14 BLAST
Blast:CRM1_C 590 699 1e-22 BLAST
CRM1_C 709 1027 4.63e-211 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000109551
AA Change: R1038G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105178
Gene: ENSMUSG00000020290
AA Change: R1038G

DomainStartEndE-ValueType
IBN_N 46 112 2.3e-10 SMART
Pfam:Xpo1 123 268 1.3e-44 PFAM
Blast:IL1 407 518 9e-14 BLAST
Blast:CRM1_C 590 699 1e-22 BLAST
CRM1_C 709 1027 4.63e-211 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This cell-cycle-regulated gene encodes a protein that mediates leucine-rich nuclear export signal (NES)-dependent protein transport. The protein specifically inhibits the nuclear export of Rev and U snRNAs. It is involved in the control of several cellular processes by controlling the localization of cyclin B, MPAK, and MAPKAP kinase 2. This protein also regulates NFAT and AP-1. [provided by RefSeq, Jan 2015]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arid5a T C 1: 36,358,578 (GRCm39) F450S probably damaging Het
Astn1 C T 1: 158,502,184 (GRCm39) R1133C probably damaging Het
Cd101 G A 3: 100,919,398 (GRCm39) P568L probably benign Het
Cdkl4 T C 17: 80,851,192 (GRCm39) E170G probably damaging Het
Chit1 A G 1: 134,074,413 (GRCm39) E240G probably benign Het
Duox2 T C 2: 122,121,190 (GRCm39) T741A probably benign Het
Eef2 T C 10: 81,015,845 (GRCm39) V427A probably benign Het
Ewsr1 T C 11: 5,038,077 (GRCm39) D105G probably damaging Het
Ftsj3 C T 11: 106,141,233 (GRCm39) R629Q probably benign Het
Gm10406 C T 14: 18,341,703 (GRCm39) G181E probably benign Het
Ilk A G 7: 105,390,376 (GRCm39) H185R probably benign Het
Lamc1 A T 1: 153,116,179 (GRCm39) C1001S probably damaging Het
Mcidas T C 13: 113,133,974 (GRCm39) S153P probably benign Het
Mtcl1 T C 17: 66,661,185 (GRCm39) E931G probably benign Het
Myo10 C T 15: 25,808,152 (GRCm39) R1925C probably damaging Het
Notch3 A G 17: 32,341,716 (GRCm39) V2012A probably damaging Het
Or6c76 C A 10: 129,611,938 (GRCm39) H67N probably benign Het
Parp6 A G 9: 59,556,175 (GRCm39) M542V probably benign Het
Rab27a G A 9: 72,992,254 (GRCm39) G94D probably damaging Het
Ralgapb A G 2: 158,296,034 (GRCm39) probably benign Het
Rassf4 T C 6: 116,622,933 (GRCm39) E26G probably benign Het
Rnf166 C T 8: 123,193,961 (GRCm39) D221N probably damaging Het
Rptn G T 3: 93,303,735 (GRCm39) G356V probably benign Het
Rwdd2b T A 16: 87,233,828 (GRCm39) probably benign Het
Scfd1 T A 12: 51,460,900 (GRCm39) S337T probably benign Het
Sel1l3 T A 5: 53,302,835 (GRCm39) D678V probably damaging Het
Sidt1 A T 16: 44,106,732 (GRCm39) F233I probably damaging Het
Slc12a4 T C 8: 106,671,864 (GRCm39) D917G probably damaging Het
Slc22a2 A T 17: 12,803,270 (GRCm39) I35F possibly damaging Het
Smco1 A T 16: 32,092,751 (GRCm39) T141S possibly damaging Het
Svs6 T C 2: 164,159,352 (GRCm39) probably benign Het
Syne2 C T 12: 76,062,419 (GRCm39) A4247V probably damaging Het
Tacc2 T A 7: 130,330,898 (GRCm39) probably null Het
Tgm4 A T 9: 122,885,531 (GRCm39) I358F probably damaging Het
Thnsl2 A G 6: 71,111,203 (GRCm39) S222P probably damaging Het
Tmem25 G A 9: 44,709,568 (GRCm39) R78* probably null Het
Ube2l6 T C 2: 84,639,506 (GRCm39) probably benign Het
Usp10 T A 8: 120,675,480 (GRCm39) Y63N possibly damaging Het
Vit A G 17: 78,912,915 (GRCm39) I283V possibly damaging Het
Vmn1r214 G A 13: 23,219,270 (GRCm39) V255I possibly damaging Het
Ybx1 T A 4: 119,139,509 (GRCm39) N50I probably damaging Het
Zhx1 T C 15: 57,917,683 (GRCm39) K188E probably damaging Het
Other mutations in Xpo1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00841:Xpo1 APN 11 23,235,094 (GRCm39) missense probably damaging 1.00
IGL01464:Xpo1 APN 11 23,217,703 (GRCm39) missense probably damaging 0.97
IGL01561:Xpo1 APN 11 23,232,706 (GRCm39) missense possibly damaging 0.76
IGL01630:Xpo1 APN 11 23,235,846 (GRCm39) missense probably benign 0.00
IGL01700:Xpo1 APN 11 23,226,422 (GRCm39) splice site probably benign
IGL02299:Xpo1 APN 11 23,243,915 (GRCm39) splice site probably benign
IGL02313:Xpo1 APN 11 23,227,065 (GRCm39) missense probably damaging 1.00
IGL02828:Xpo1 APN 11 23,232,593 (GRCm39) missense probably damaging 0.97
IGL03210:Xpo1 APN 11 23,228,834 (GRCm39) missense probably benign 0.01
IGL03329:Xpo1 APN 11 23,234,306 (GRCm39) missense probably benign
PIT1430001:Xpo1 UTSW 11 23,226,437 (GRCm39) missense possibly damaging 0.66
R0507:Xpo1 UTSW 11 23,244,682 (GRCm39) missense possibly damaging 0.61
R0594:Xpo1 UTSW 11 23,230,402 (GRCm39) missense probably damaging 1.00
R0706:Xpo1 UTSW 11 23,230,441 (GRCm39) missense probably benign 0.09
R0742:Xpo1 UTSW 11 23,244,682 (GRCm39) missense possibly damaging 0.61
R1385:Xpo1 UTSW 11 23,211,863 (GRCm39) missense probably damaging 0.96
R1478:Xpo1 UTSW 11 23,241,623 (GRCm39) missense probably damaging 0.99
R1483:Xpo1 UTSW 11 23,234,863 (GRCm39) missense probably benign 0.04
R1694:Xpo1 UTSW 11 23,231,399 (GRCm39) missense probably benign 0.12
R1775:Xpo1 UTSW 11 23,221,193 (GRCm39) missense probably benign
R1827:Xpo1 UTSW 11 23,235,155 (GRCm39) missense probably benign 0.00
R2262:Xpo1 UTSW 11 23,234,634 (GRCm39) splice site probably null
R2263:Xpo1 UTSW 11 23,234,634 (GRCm39) splice site probably null
R4510:Xpo1 UTSW 11 23,237,401 (GRCm39) missense possibly damaging 0.60
R4511:Xpo1 UTSW 11 23,237,401 (GRCm39) missense possibly damaging 0.60
R4840:Xpo1 UTSW 11 23,228,183 (GRCm39) missense probably damaging 1.00
R4901:Xpo1 UTSW 11 23,231,327 (GRCm39) missense possibly damaging 0.62
R5176:Xpo1 UTSW 11 23,245,977 (GRCm39) missense probably damaging 0.99
R5508:Xpo1 UTSW 11 23,244,645 (GRCm39) missense probably benign
R5927:Xpo1 UTSW 11 23,218,656 (GRCm39) unclassified probably benign
R5927:Xpo1 UTSW 11 23,218,653 (GRCm39) unclassified probably benign
R6110:Xpo1 UTSW 11 23,237,434 (GRCm39) missense probably damaging 0.99
R6421:Xpo1 UTSW 11 23,241,490 (GRCm39) missense possibly damaging 0.60
R6591:Xpo1 UTSW 11 23,236,875 (GRCm39) missense probably damaging 1.00
R6691:Xpo1 UTSW 11 23,236,875 (GRCm39) missense probably damaging 1.00
R6698:Xpo1 UTSW 11 23,244,040 (GRCm39) missense probably benign 0.01
R6958:Xpo1 UTSW 11 23,235,855 (GRCm39) missense probably benign
R7407:Xpo1 UTSW 11 23,235,823 (GRCm39) missense probably damaging 1.00
R7482:Xpo1 UTSW 11 23,232,544 (GRCm39) missense probably benign 0.00
R7624:Xpo1 UTSW 11 23,232,584 (GRCm39) missense probably damaging 0.99
R8335:Xpo1 UTSW 11 23,230,603 (GRCm39) splice site probably null
R8823:Xpo1 UTSW 11 23,217,752 (GRCm39) missense probably benign
R9128:Xpo1 UTSW 11 23,235,058 (GRCm39) missense probably damaging 1.00
R9232:Xpo1 UTSW 11 23,232,646 (GRCm39) missense probably benign
R9277:Xpo1 UTSW 11 23,241,550 (GRCm39) missense probably benign 0.17
Z1176:Xpo1 UTSW 11 23,246,080 (GRCm39) missense probably damaging 0.99
Posted On 2014-05-07