Incidental Mutation 'R4901:Xpo1'
ID 376173
Institutional Source Beutler Lab
Gene Symbol Xpo1
Ensembl Gene ENSMUSG00000020290
Gene Name exportin 1
Synonyms Crm1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4901 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 23206041-23248249 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 23231327 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 304 (I304F)
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 possibly damaging
Transcript: ENSMUST00000020538
AA Change: I304F

PolyPhen 2 Score 0.624 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000020538
Gene: ENSMUSG00000020290
AA Change: I304F

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 possibly damaging
Transcript: ENSMUST00000102869
AA Change: I304F

PolyPhen 2 Score 0.624 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000099933
Gene: ENSMUSG00000020290
AA Change: I304F

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 possibly damaging
Transcript: ENSMUST00000102870
AA Change: I304F

PolyPhen 2 Score 0.624 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000099934
Gene: ENSMUSG00000020290
AA Change: I304F

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 possibly damaging
Transcript: ENSMUST00000109551
AA Change: I304F

PolyPhen 2 Score 0.624 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000105178
Gene: ENSMUSG00000020290
AA Change: I304F

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 noncoding transcript
Transcript: ENSMUST00000149371
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: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 92.6%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg4 C T 9: 44,188,954 (GRCm39) probably null Het
Arg2 T C 12: 79,194,485 (GRCm39) V103A probably damaging Het
Bicra T A 7: 15,721,526 (GRCm39) T664S possibly damaging Het
Bptf A T 11: 107,001,686 (GRCm39) Y475* probably null Het
Calcrl T C 2: 84,163,857 (GRCm39) I445V probably benign Het
Ccdc110 G A 8: 46,396,437 (GRCm39) R776Q probably benign Het
Ccnc A G 4: 21,727,894 (GRCm39) N4S probably damaging Het
Ccni G A 5: 93,331,003 (GRCm39) R323W probably damaging Het
Celsr2 T A 3: 108,314,303 (GRCm39) M1241L possibly damaging Het
Cpd T C 11: 76,681,707 (GRCm39) I1145M probably damaging Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Cyp2j8 T A 4: 96,367,323 (GRCm39) D265V probably benign Het
Dennd2a T C 6: 39,499,621 (GRCm39) T315A probably benign Het
Dgkz T A 2: 91,767,076 (GRCm39) Q905L probably benign Het
Dnah8 G A 17: 31,059,688 (GRCm39) probably null Het
Elp2 A G 18: 24,752,542 (GRCm39) H365R probably damaging Het
Gm136 G A 4: 34,746,580 (GRCm39) Q144* probably null Het
Gon4l T C 3: 88,815,458 (GRCm39) V2008A possibly damaging Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Isyna1 A T 8: 71,049,246 (GRCm39) H414L probably damaging Het
Kif20b A G 19: 34,911,836 (GRCm39) Y233C probably benign Het
Klk1 A T 7: 43,878,139 (GRCm39) I132F probably damaging Het
Klre1 A T 6: 129,561,188 (GRCm39) H183L probably benign Het
Lrp1b T C 2: 40,711,657 (GRCm39) T3188A probably damaging Het
Mapk12 A T 15: 89,018,841 (GRCm39) L198* probably null Het
Mt4 A C 8: 94,864,912 (GRCm39) T29P possibly damaging Het
Myh14 C T 7: 44,310,464 (GRCm39) V140I probably damaging Het
Nr1h4 T C 10: 89,314,659 (GRCm39) Q269R possibly damaging Het
Or4p23 C G 2: 88,577,231 (GRCm39) probably null Het
Or51e1 A G 7: 102,359,405 (GRCm39) H313R probably benign Het
Pde1b A G 15: 103,435,112 (GRCm39) I421V probably null Het
Pde3b A T 7: 114,107,425 (GRCm39) T519S probably damaging Het
Phf21a T A 2: 92,187,346 (GRCm39) C178* probably null Het
Phtf2 A G 5: 21,010,722 (GRCm39) S88P possibly damaging Het
Pik3c3 A G 18: 30,435,982 (GRCm39) M394V possibly damaging Het
Plxnb1 C T 9: 108,934,027 (GRCm39) P752S probably benign Het
Pp2d1 C A 17: 53,822,037 (GRCm39) G343V probably benign Het
Ppp6r2 A G 15: 89,143,272 (GRCm39) I140V possibly damaging Het
Ppp6r3 C A 19: 3,517,229 (GRCm39) V75L probably damaging Het
Ptprq T A 10: 107,524,275 (GRCm39) H486L probably benign Het
Rasgrf1 C T 9: 89,877,056 (GRCm39) T807M probably benign Het
Rasgrp3 C A 17: 75,821,111 (GRCm39) Y439* probably null Het
Rbm44 A G 1: 91,081,050 (GRCm39) T413A probably benign Het
Rnf135 T C 11: 80,089,662 (GRCm39) C333R probably damaging Het
Scfd2 A G 5: 74,680,226 (GRCm39) V309A probably damaging Het
Semp2l1 T C 1: 32,585,701 (GRCm39) S70G probably benign Het
Serpina3m A T 12: 104,355,908 (GRCm39) K192* probably null Het
Sft2d1rt A G 11: 45,942,656 (GRCm39) S156P probably damaging Het
Sh3tc2 A G 18: 62,123,506 (GRCm39) I756V probably benign Het
Slc27a4 T C 2: 29,702,648 (GRCm39) V516A probably damaging Het
Sult2a5 T A 7: 13,359,188 (GRCm39) C55S probably benign Het
Tars3 C T 7: 65,341,042 (GRCm39) T783M probably benign Het
Tet2 A T 3: 133,172,805 (GRCm39) I1819N possibly damaging Het
Timeless T C 10: 128,086,631 (GRCm39) F1057L probably damaging Het
Ttn T A 2: 76,628,418 (GRCm39) I12835F probably damaging Het
Uhrf1 T A 17: 56,617,834 (GRCm39) D185E probably benign Het
Vmn2r74 G T 7: 85,605,199 (GRCm39) S483* probably null Het
Zc3h11a A G 1: 133,552,449 (GRCm39) S553P probably benign Het
Zdhhc1 A G 8: 106,199,484 (GRCm39) S402P probably benign Het
Zwilch T C 9: 64,070,028 (GRCm39) Y101C 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
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
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
Predicted Primers PCR Primer
(F):5'- GATTCATCTGAATGCACTGCTAGTG -3'
(R):5'- ACAGGCTCATATCCAAGAGC -3'

Sequencing Primer
(F):5'- CACTGCTAGTGTTGTTGTTGCCTTC -3'
(R):5'- GAAGTTGACCGTGCTCTT -3'
Posted On 2016-03-17