Incidental Mutation 'R6481:Xpo6'
ID 517106
Institutional Source Beutler Lab
Gene Symbol Xpo6
Ensembl Gene ENSMUSG00000000131
Gene Name exportin 6
Synonyms Ranbp20, 2610005L19Rik, C230091E20Rik
MMRRC Submission 044613-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.807) question?
Stock # R6481 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 125700887-125799673 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 125712057 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 3 (N3K)
Ref Sequence ENSEMBL: ENSMUSP00000128919 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009344] [ENSMUST00000165608] [ENSMUST00000166538] [ENSMUST00000168189]
AlphaFold Q924Z6
Predicted Effect possibly damaging
Transcript: ENSMUST00000009344
AA Change: N735K

PolyPhen 2 Score 0.697 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000009344
Gene: ENSMUSG00000000131
AA Change: N735K

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 damaging
Transcript: ENSMUST00000165608
AA Change: N3K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000165660
Predicted Effect probably benign
Transcript: ENSMUST00000166538
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167315
Predicted Effect possibly damaging
Transcript: ENSMUST00000168189
AA Change: N736K

PolyPhen 2 Score 0.571 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000130527
Gene: ENSMUSG00000000131
AA Change: N736K

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 0.6329 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency 100% (82/82)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931428L18Rik T C 1: 31,261,588 (GRCm39) probably benign Het
Aadacl2fm3 T C 3: 59,768,478 (GRCm39) Y3H probably benign Het
Abca9 G A 11: 110,056,788 (GRCm39) Q11* probably null Het
Abcc9 A T 6: 142,550,621 (GRCm39) M1273K probably damaging Het
Abi2 A G 1: 60,478,098 (GRCm39) probably null Het
Acsm5 A G 7: 119,134,104 (GRCm39) E295G probably benign Het
Anapc5 T C 5: 122,938,607 (GRCm39) D389G probably benign Het
Ano3 A T 2: 110,625,372 (GRCm39) D159E probably benign Het
Arhgap26 T A 18: 39,283,110 (GRCm39) M349K probably damaging Het
Arhgef39 A G 4: 43,498,580 (GRCm39) probably null Het
Astn1 T C 1: 158,440,032 (GRCm39) S867P probably benign Het
Atad3a A T 4: 155,838,098 (GRCm39) probably null Het
Cadm1 A T 9: 47,699,407 (GRCm39) D91V probably damaging Het
Cc2d2b T C 19: 40,790,839 (GRCm39) I933T possibly damaging Het
Cdcp3 A T 7: 130,858,530 (GRCm39) D1066V probably benign Het
Celsr3 C G 9: 108,714,283 (GRCm39) N1937K possibly damaging Het
Cic A C 7: 24,987,706 (GRCm39) T558P possibly damaging Het
Cntln A G 4: 84,985,747 (GRCm39) M933V probably benign Het
Coch T C 12: 51,644,956 (GRCm39) F170S probably damaging Het
Col1a2 A G 6: 4,538,680 (GRCm39) Y1200C unknown Het
Col26a1 T C 5: 136,773,032 (GRCm39) M383V probably benign Het
Col4a4 A T 1: 82,431,499 (GRCm39) M1595K unknown Het
Crh T C 3: 19,748,501 (GRCm39) E47G probably benign Het
D930020B18Rik T C 10: 121,497,053 (GRCm39) probably null Het
Def6 G A 17: 28,445,137 (GRCm39) R482H probably benign Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Dpagt1 T C 9: 44,242,487 (GRCm39) L241P probably damaging Het
E2f7 A G 10: 110,610,542 (GRCm39) E389G probably damaging Het
Eif2b1 T C 5: 124,715,174 (GRCm39) I53V probably benign Het
Fbxo4 A G 15: 3,995,216 (GRCm39) L376P probably damaging Het
Fgfr2 A G 7: 129,787,008 (GRCm39) S352P possibly damaging Het
Fkbpl C A 17: 34,864,388 (GRCm39) P52Q possibly damaging Het
Fry G A 5: 150,309,479 (GRCm39) R641H probably damaging Het
Fsip2 A G 2: 82,820,430 (GRCm39) T5388A possibly damaging Het
Gm12728 A G 4: 105,651,546 (GRCm39) K52R probably damaging Het
Gtf2a1l A G 17: 89,019,053 (GRCm39) D379G probably benign Het
Gys1 A T 7: 45,092,393 (GRCm39) Y332F possibly damaging Het
Hoxa7 T A 6: 52,193,594 (GRCm39) probably benign Het
Ifitm1 G A 7: 140,549,519 (GRCm39) V101I probably benign Het
Kalrn T A 16: 34,181,354 (GRCm39) T95S probably damaging Het
Leng8 A G 7: 4,148,412 (GRCm39) Y728C probably damaging Het
Lonp2 G T 8: 87,361,536 (GRCm39) D238Y possibly damaging Het
Ltn1 A C 16: 87,175,868 (GRCm39) S1757A probably damaging Het
Man2a2 A T 7: 80,013,819 (GRCm39) S411T probably damaging Het
Mrps33 C A 6: 39,782,304 (GRCm39) probably null Het
Muc16 C T 9: 18,461,973 (GRCm39) probably null Het
Muc5ac A G 7: 141,362,808 (GRCm39) probably benign Het
Naip2 A C 13: 100,298,549 (GRCm39) S496A probably benign Het
Or10al6 T G 17: 38,083,194 (GRCm39) F217V probably damaging Het
Or13p8 A G 4: 118,583,930 (GRCm39) Y162C probably damaging Het
Or1j21 T A 2: 36,683,789 (GRCm39) D180E possibly damaging Het
Or4c106 A T 2: 88,682,863 (GRCm39) T190S probably damaging Het
Or55b10 A T 7: 102,143,346 (GRCm39) V212D probably damaging Het
Or5w17 T C 2: 87,583,812 (GRCm39) N175S probably damaging Het
Pag1 T A 3: 9,764,396 (GRCm39) E252D possibly damaging Het
Plcd3 T C 11: 102,968,593 (GRCm39) Y366C probably damaging Het
Psg17 A C 7: 18,548,375 (GRCm39) S465R probably damaging Het
Ptpn9 G T 9: 56,930,324 (GRCm39) V50L probably damaging Het
Rab17 T G 1: 90,886,683 (GRCm39) S190R probably benign Het
Samd11 A G 4: 156,333,535 (GRCm39) probably null Het
Slc17a5 A G 9: 78,445,553 (GRCm39) F434S possibly damaging Het
Slc22a15 A G 3: 101,790,899 (GRCm39) I202T possibly damaging Het
Slc8a1 G T 17: 81,696,347 (GRCm39) Q896K probably benign Het
Slc9a5 A T 8: 106,085,025 (GRCm39) K509* probably null Het
Slf2 A C 19: 44,961,603 (GRCm39) M1041L probably benign Het
Smn1 A G 13: 100,265,008 (GRCm39) probably null Het
Snx9 T C 17: 5,972,484 (GRCm39) probably null Het
Soat2 T A 15: 102,070,490 (GRCm39) L431Q probably damaging Het
Spam1 T A 6: 24,796,929 (GRCm39) N293K probably benign Het
Tatdn1 T C 15: 58,795,760 (GRCm39) T66A possibly damaging Het
Tmprss11g A T 5: 86,640,015 (GRCm39) S205T probably benign Het
Tnpo3 G T 6: 29,571,100 (GRCm39) N431K possibly damaging Het
Trim39 T C 17: 36,579,554 (GRCm39) T31A probably benign Het
Trmt9b T C 8: 36,965,637 (GRCm39) probably null Het
Tshz3 A G 7: 36,451,764 (GRCm39) probably null Het
Ttll11 G A 2: 35,792,766 (GRCm39) T359M probably damaging Het
Ttn T G 2: 76,571,843 (GRCm39) D26350A probably damaging Het
Ubr4 G T 4: 139,159,062 (GRCm39) V2472F probably damaging Het
Vsx2 C T 12: 84,639,878 (GRCm39) P265S probably benign Het
Wdr90 C T 17: 26,064,885 (GRCm39) G1708R probably damaging Het
Wnt11 A G 7: 98,502,481 (GRCm39) Y351C probably damaging Het
Zfp445 A G 9: 122,686,631 (GRCm39) S165P probably benign Het
Zfp953 A T 13: 67,496,001 (GRCm39) Y13* probably null Het
Zftraf1 T C 15: 76,542,908 (GRCm39) 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
R4011:Xpo6 UTSW 7 125,739,780 (GRCm39) missense probably benign 0.13
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
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'- AGCCTTTTCTGTGAAGCAACG -3'
(R):5'- CTTTAGGTAGAGCATGACCAGGC -3'

Sequencing Primer
(F):5'- ACGGAAGTCATTTCAAGGGCTTTAG -3'
(R):5'- CTGTAAGAAAGACACCTAGGATCTG -3'
Posted On 2018-05-21