Incidental Mutation 'R4011:Xpo6'
ID 311695
Institutional Source Beutler Lab
Gene Symbol Xpo6
Ensembl Gene ENSMUSG00000000131
Gene Name exportin 6
Synonyms Ranbp20, 2610005L19Rik, C230091E20Rik
MMRRC Submission 040948-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.807) question?
Stock # R4011 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 125700887-125799673 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 125739780 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 431 (K431E)
Ref Sequence ENSEMBL: ENSMUSP00000130527 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009344] [ENSMUST00000166538] [ENSMUST00000168189]
AlphaFold Q924Z6
Predicted Effect probably benign
Transcript: ENSMUST00000009344
AA Change: K431E

PolyPhen 2 Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000009344
Gene: ENSMUSG00000000131
AA Change: K431E

DomainStartEndE-ValueType
IBN_N 31 97 4.04e-6 SMART
Pfam:Xpo1 103 290 1.4e-29 PFAM
low complexity region 469 484 N/A INTRINSIC
low complexity region 672 684 N/A INTRINSIC
low complexity region 1022 1034 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000164741
SMART Domains Protein: ENSMUSP00000132205
Gene: ENSMUSG00000000131

DomainStartEndE-ValueType
Pfam:Xpo1 1 128 9e-14 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000166538
AA Change: K19E
Predicted Effect probably benign
Transcript: ENSMUST00000166540
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167268
Predicted Effect probably benign
Transcript: ENSMUST00000168189
AA Change: K431E

PolyPhen 2 Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000130527
Gene: ENSMUSG00000000131
AA Change: K431E

DomainStartEndE-ValueType
IBN_N 31 97 4.04e-6 SMART
Pfam:Xpo1 103 290 1.1e-25 PFAM
low complexity region 469 485 N/A INTRINSIC
low complexity region 673 685 N/A INTRINSIC
low complexity region 1023 1035 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170675
Meta Mutation Damage Score 0.0938 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.7%
Validation Efficiency 100% (43/43)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the importin-beta family. Members of this family are regulated by the GTPase Ran to mediate transport of cargo across the nuclear envelope. This protein has been shown to mediate nuclear export of profilin-actin complexes. A pseudogene of this gene is located on the long arm of chromosome 14. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 G A 11: 9,572,013 (GRCm39) probably benign Het
Acss2 T A 2: 155,399,548 (GRCm39) L529Q probably damaging Het
Adsl T C 15: 80,850,357 (GRCm39) S359P probably benign Het
C1qtnf1 G A 11: 118,337,365 (GRCm39) G65D probably benign Het
Chd1l A T 3: 97,477,718 (GRCm39) M679K probably benign Het
Cspg4 A G 9: 56,794,601 (GRCm39) T779A probably benign Het
Ddx18 T C 1: 121,489,810 (GRCm39) I200V probably benign Het
Dnah9 T A 11: 65,725,290 (GRCm39) M4288L probably damaging Het
F830045P16Rik A T 2: 129,305,467 (GRCm39) N302K probably damaging Het
Gas1 T G 13: 60,323,791 (GRCm39) D322A unknown Het
Gfm2 T A 13: 97,279,608 (GRCm39) probably benign Het
Gm5592 G T 7: 40,938,934 (GRCm39) V739L probably benign Het
Hbb-bh2 T A 7: 103,489,416 (GRCm39) H45L probably benign Het
Ifit2 G T 19: 34,551,445 (GRCm39) M328I probably benign Het
Igdcc4 T C 9: 65,042,761 (GRCm39) V1237A probably benign Het
Kat2b G A 17: 53,951,769 (GRCm39) probably null Het
Lmtk2 A G 5: 144,112,697 (GRCm39) N1139S probably benign Het
Map1a G A 2: 121,130,608 (GRCm39) A475T probably damaging Het
Map3k20 G A 2: 72,214,468 (GRCm39) probably benign Het
Mga T C 2: 119,762,261 (GRCm39) V1084A probably damaging Het
Msantd5f6 T C 4: 73,320,047 (GRCm39) Y244C probably damaging Het
Myo3b A G 2: 69,926,720 (GRCm39) I5V probably benign Het
Or10a3m A T 7: 108,313,366 (GRCm39) I269L probably benign Het
Or10ag56 A G 2: 87,139,555 (GRCm39) I141V probably benign Het
Or10ag57 A T 2: 87,218,924 (GRCm39) I292F possibly damaging Het
Or56b1 A G 7: 104,285,555 (GRCm39) T225A probably benign Het
Or5h24 G A 16: 58,919,124 (GRCm39) T77I unknown Het
Or5v1 T C 17: 37,810,382 (GRCm39) V280A possibly damaging Het
Osmr G T 15: 6,854,014 (GRCm39) R565S probably benign Het
Pcolce G T 5: 137,604,036 (GRCm39) Q344K probably benign Het
Prdm11 A G 2: 92,843,175 (GRCm39) F95L probably damaging Het
Psd2 C T 18: 36,120,300 (GRCm39) T383I probably benign Het
Reg3a G A 6: 78,360,553 (GRCm39) D164N probably damaging Het
Serpina3a A T 12: 104,084,902 (GRCm39) D99V probably benign Het
Sgce G T 6: 4,691,563 (GRCm39) Y301* probably null Het
Slc28a3 T C 13: 58,714,064 (GRCm39) K434E probably benign Het
Slc30a3 A G 5: 31,244,203 (GRCm39) F360L probably damaging Het
Tdpoz3 A T 3: 93,733,550 (GRCm39) Y75F possibly damaging Het
Trim65 A G 11: 116,018,529 (GRCm39) F249L probably benign Het
Tubgcp3 A T 8: 12,689,634 (GRCm39) L544* probably null Het
Vit C T 17: 78,842,121 (GRCm39) probably benign Het
Wdfy4 C A 14: 32,824,637 (GRCm39) probably benign Het
Xrn1 T A 9: 95,867,278 (GRCm39) Y545* probably null Het
Other mutations in Xpo6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01111:Xpo6 APN 7 125,728,740 (GRCm39) missense probably benign 0.03
IGL01432:Xpo6 APN 7 125,723,553 (GRCm39) missense probably benign 0.31
IGL01627:Xpo6 APN 7 125,748,506 (GRCm39) missense probably damaging 1.00
IGL01878:Xpo6 APN 7 125,773,365 (GRCm39) missense probably benign 0.35
IGL02185:Xpo6 APN 7 125,712,980 (GRCm39) splice site probably benign
IGL02744:Xpo6 APN 7 125,707,620 (GRCm39) unclassified probably benign
IGL02927:Xpo6 APN 7 125,755,901 (GRCm39) missense possibly damaging 0.86
IGL03216:Xpo6 APN 7 125,703,985 (GRCm39) missense probably damaging 1.00
Anthracite UTSW 7 125,701,505 (GRCm39) nonsense probably null
Bituminous UTSW 7 125,712,127 (GRCm39) splice site probably benign
Cerise UTSW 7 125,708,016 (GRCm39) missense probably damaging 1.00
Crayola UTSW 7 125,706,250 (GRCm39) missense probably damaging 0.98
pastel UTSW 7 125,707,791 (GRCm39) missense probably damaging 1.00
R0845:Xpo6 UTSW 7 125,728,715 (GRCm39) splice site probably benign
R1671:Xpo6 UTSW 7 125,707,715 (GRCm39) missense possibly damaging 0.92
R2349:Xpo6 UTSW 7 125,712,875 (GRCm39) missense probably benign 0.18
R3051:Xpo6 UTSW 7 125,703,893 (GRCm39) missense probably damaging 1.00
R3052:Xpo6 UTSW 7 125,703,893 (GRCm39) missense probably damaging 1.00
R3053:Xpo6 UTSW 7 125,703,893 (GRCm39) missense probably damaging 1.00
R3902:Xpo6 UTSW 7 125,719,581 (GRCm39) missense probably damaging 1.00
R4231:Xpo6 UTSW 7 125,773,354 (GRCm39) missense possibly damaging 0.66
R4569:Xpo6 UTSW 7 125,727,427 (GRCm39) missense probably damaging 1.00
R4604:Xpo6 UTSW 7 125,712,924 (GRCm39) missense possibly damaging 0.52
R4736:Xpo6 UTSW 7 125,739,755 (GRCm39) missense probably benign
R4919:Xpo6 UTSW 7 125,752,115 (GRCm39) missense probably benign 0.01
R4953:Xpo6 UTSW 7 125,768,443 (GRCm39) missense probably damaging 1.00
R5017:Xpo6 UTSW 7 125,703,919 (GRCm39) missense probably benign 0.31
R5590:Xpo6 UTSW 7 125,706,250 (GRCm39) missense probably damaging 0.98
R5856:Xpo6 UTSW 7 125,748,674 (GRCm39) intron probably benign
R6077:Xpo6 UTSW 7 125,709,124 (GRCm39) missense possibly damaging 0.67
R6156:Xpo6 UTSW 7 125,708,016 (GRCm39) missense probably damaging 1.00
R6256:Xpo6 UTSW 7 125,707,791 (GRCm39) missense probably damaging 1.00
R6481:Xpo6 UTSW 7 125,712,057 (GRCm39) missense probably damaging 1.00
R6500:Xpo6 UTSW 7 125,770,262 (GRCm39) intron probably benign
R7407:Xpo6 UTSW 7 125,770,224 (GRCm39) missense probably damaging 0.99
R7480:Xpo6 UTSW 7 125,701,505 (GRCm39) nonsense probably null
R7630:Xpo6 UTSW 7 125,739,561 (GRCm39) splice site probably null
R7794:Xpo6 UTSW 7 125,760,035 (GRCm39) missense probably damaging 0.98
R7984:Xpo6 UTSW 7 125,719,616 (GRCm39) missense probably benign
R8022:Xpo6 UTSW 7 125,768,426 (GRCm39) missense probably benign 0.04
R8283:Xpo6 UTSW 7 125,727,421 (GRCm39) missense possibly damaging 0.90
R8438:Xpo6 UTSW 7 125,760,054 (GRCm39) missense possibly damaging 0.71
R8786:Xpo6 UTSW 7 125,712,127 (GRCm39) splice site probably benign
R9427:Xpo6 UTSW 7 125,748,418 (GRCm39) nonsense probably null
R9674:Xpo6 UTSW 7 125,723,700 (GRCm39) missense probably benign 0.20
R9711:Xpo6 UTSW 7 125,712,873 (GRCm39) missense probably benign 0.00
X0012:Xpo6 UTSW 7 125,768,399 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- TAATGAACTCTGACCACCTCTGG -3'
(R):5'- ATATGGGACTGGAGGCCTTG -3'

Sequencing Primer
(F):5'- CACCTCCAATGGGTTGTTGTAAAGC -3'
(R):5'- ACTGGAGGCCTTGGTTTTGC -3'
Posted On 2015-04-29