Incidental Mutation 'R6958:Xpo1'
ID 541590
Institutional Source Beutler Lab
Gene Symbol Xpo1
Ensembl Gene ENSMUSG00000020290
Gene Name exportin 1
Synonyms Crm1
MMRRC Submission 045009-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6958 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 23206041-23248249 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 23235855 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 648 (T648A)
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 benign
Transcript: ENSMUST00000020538
AA Change: T648A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000020538
Gene: ENSMUSG00000020290
AA Change: T648A

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 benign
Transcript: ENSMUST00000102869
AA Change: T648A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000099933
Gene: ENSMUSG00000020290
AA Change: T648A

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 benign
Transcript: ENSMUST00000102870
AA Change: T648A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000099934
Gene: ENSMUSG00000020290
AA Change: T648A

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 benign
Transcript: ENSMUST00000109551
AA Change: T648A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000105178
Gene: ENSMUSG00000020290
AA Change: T648A

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 benign
Transcript: ENSMUST00000150750
SMART Domains Protein: ENSMUSP00000117846
Gene: ENSMUSG00000020290

DomainStartEndE-ValueType
Blast:CRM1_C 97 136 3e-8 BLAST
Pfam:CRM1_C 171 233 4.3e-22 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 96.9%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410004B18Rik A G 3: 145,649,558 (GRCm39) D159G probably benign Het
Ahnak A G 19: 8,992,579 (GRCm39) N4621S possibly damaging Het
Ankrd16 C T 2: 11,784,604 (GRCm39) A144V probably damaging Het
Bhmt1b G A 18: 87,775,046 (GRCm39) E190K probably benign Het
Ccdc14 T C 16: 34,511,176 (GRCm39) V2A probably damaging Het
Ccdc187 C T 2: 26,179,731 (GRCm39) V243I probably benign Het
Cdk12 A T 11: 98,132,525 (GRCm39) I985F unknown Het
Cfap65 T C 1: 74,971,058 (GRCm39) T87A possibly damaging Het
Cilp2 G A 8: 70,335,190 (GRCm39) P603S probably benign Het
Cntnap5b A G 1: 100,202,197 (GRCm39) E348G probably benign Het
Cpa6 C T 1: 10,665,913 (GRCm39) V42M probably damaging Het
Cpsf4 A G 5: 145,112,402 (GRCm39) I115V probably benign Het
Dnah11 G T 12: 117,897,544 (GRCm39) P3562Q probably damaging Het
Dnah9 A G 11: 65,967,167 (GRCm39) F1664L probably damaging Het
Dpysl3 T C 18: 43,571,067 (GRCm39) Q69R probably benign Het
Ebf3 T C 7: 136,800,994 (GRCm39) T455A possibly damaging Het
Eif2ak3 T A 6: 70,869,667 (GRCm39) C785S probably benign Het
Elk4 T A 1: 131,945,570 (GRCm39) F149L probably damaging Het
Fgf14 A G 14: 124,914,009 (GRCm39) W41R probably benign Het
Fmnl1 T A 11: 103,062,140 (GRCm39) M1K probably null Het
Foxk2 A T 11: 121,190,563 (GRCm39) Q568L probably benign Het
Fryl T G 5: 73,231,272 (GRCm39) I1602L possibly damaging Het
Gfm2 A G 13: 97,282,744 (GRCm39) I75V probably damaging Het
Gm3233 T A 10: 77,595,369 (GRCm39) probably benign Het
Gnb1 G T 4: 155,627,651 (GRCm39) probably null Het
Gphn G T 12: 78,727,073 (GRCm39) V662L possibly damaging Het
Il3 A C 11: 54,157,937 (GRCm39) V47G probably benign Het
Iqgap3 A G 3: 88,020,673 (GRCm39) D401G possibly damaging Het
Kdm3b T A 18: 34,941,336 (GRCm39) S276T probably benign Het
Krtap6-2 A G 16: 89,216,698 (GRCm39) S90P unknown Het
Lars1 C T 18: 42,369,704 (GRCm39) V394I probably damaging Het
Lrit1 G C 14: 36,782,052 (GRCm39) V242L probably damaging Het
Lrp10 A G 14: 54,707,278 (GRCm39) probably benign Het
Ltn1 A T 16: 87,194,679 (GRCm39) C1407S probably benign Het
Lzts2 G T 19: 45,012,582 (GRCm39) probably benign Het
Msantd2 A G 9: 37,434,753 (GRCm39) E331G probably damaging Het
Myo15a G A 11: 60,394,451 (GRCm39) G1218S probably benign Het
Myom2 G A 8: 15,167,741 (GRCm39) A1109T probably null Het
Nhp2 A G 11: 51,513,934 (GRCm39) T118A probably benign Het
Nup155 A G 15: 8,176,638 (GRCm39) Y972C probably damaging Het
Nxpe2 A T 9: 48,237,566 (GRCm39) C230S probably damaging Het
Or12d13 T C 17: 37,647,308 (GRCm39) I272V probably benign Het
Or51g2 A G 7: 102,623,091 (GRCm39) L36P possibly damaging Het
Or5w8 T C 2: 87,688,295 (GRCm39) Y259H probably damaging Het
Pfkfb4 A T 9: 108,839,615 (GRCm39) N244I probably damaging Het
Pi4ka C T 16: 17,143,091 (GRCm39) R24Q probably damaging Het
Pkd2l2 C A 18: 34,542,543 (GRCm39) Y8* probably null Het
Pramel20 A T 4: 143,297,829 (GRCm39) D83V probably damaging Het
Ptprb T A 10: 116,113,153 (GRCm39) N44K probably benign Het
Sds G A 5: 120,619,537 (GRCm39) V149M probably damaging Het
Slc22a30 A G 19: 8,364,065 (GRCm39) F204L probably damaging Het
Slc26a7 C T 4: 14,506,442 (GRCm39) A636T probably benign Het
Slc27a1 C T 8: 72,038,083 (GRCm39) A577V possibly damaging Het
Spata13 A T 14: 60,989,300 (GRCm39) T319S possibly damaging Het
Styxl2 T A 1: 165,935,565 (GRCm39) D211V probably damaging Het
Tdrd3 A G 14: 87,694,532 (GRCm39) D29G probably damaging Het
Tex15 A T 8: 34,060,899 (GRCm39) I110L probably benign Het
Treml2 A G 17: 48,615,180 (GRCm39) T222A probably damaging Het
Trpd52l3 A T 19: 29,981,546 (GRCm39) L100F probably damaging Het
Ttf2 C T 3: 100,853,248 (GRCm39) E975K probably benign Het
Vmn1r193 T A 13: 22,404,144 (GRCm39) probably benign Het
Zfp641 C T 15: 98,190,832 (GRCm39) V71I possibly 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
IGL02000:Xpo1 APN 11 23,246,003 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TGAGTCCCCTCAGTGGTTCTTG -3'
(R):5'- ACTGAAAAGGGATTCCTGTTTGAAG -3'

Sequencing Primer
(F):5'- ATAGACGCACTATGCTTTGGAG -3'
(R):5'- GTGCTAAGACTGAAACTTAAACCTC -3'
Posted On 2018-11-28