Incidental Mutation 'R6156:Xpo6'
ID 489585
Institutional Source Beutler Lab
Gene Symbol Xpo6
Ensembl Gene ENSMUSG00000000131
Gene Name exportin 6
Synonyms Ranbp20, 2610005L19Rik, C230091E20Rik
MMRRC Submission 044303-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.807) question?
Stock # R6156 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 125700887-125799673 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 125708016 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 851 (Q851K)
Ref Sequence ENSEMBL: ENSMUSP00000009344 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009344] [ENSMUST00000165608] [ENSMUST00000166538] [ENSMUST00000166719] [ENSMUST00000168189] [ENSMUST00000171861]
AlphaFold Q924Z6
Predicted Effect probably damaging
Transcript: ENSMUST00000009344
AA Change: Q851K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000009344
Gene: ENSMUSG00000000131
AA Change: Q851K

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: ENSMUST00000165608
Predicted Effect unknown
Transcript: ENSMUST00000165660
AA Change: Q81K
Predicted Effect probably benign
Transcript: ENSMUST00000166538
Predicted Effect probably benign
Transcript: ENSMUST00000166719
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167315
Predicted Effect probably damaging
Transcript: ENSMUST00000168189
AA Change: Q852K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000130527
Gene: ENSMUSG00000000131
AA Change: Q852K

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168933
Predicted Effect probably benign
Transcript: ENSMUST00000168564
SMART Domains Protein: ENSMUSP00000129881
Gene: ENSMUSG00000000131

DomainStartEndE-ValueType
low complexity region 61 73 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000171861
Meta Mutation Damage Score 0.5286 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.9%
Validation Efficiency 97% (68/70)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 T G 15: 64,689,488 (GRCm39) probably null Het
Ank2 T C 3: 126,737,886 (GRCm39) D2579G probably damaging Het
Atp6v1b1 G C 6: 83,735,115 (GRCm39) G423R probably damaging Het
B4galnt3 T C 6: 120,191,801 (GRCm39) N644S probably benign Het
Bhmt1b C A 18: 87,775,231 (GRCm39) Y251* probably null Het
Capsl T G 15: 9,465,920 (GRCm39) M132R probably damaging Het
Cep120 A G 18: 53,836,295 (GRCm39) Y797H probably benign Het
Cimip4 T C 15: 78,263,013 (GRCm39) T214A probably damaging Het
Clec2e T A 6: 129,072,061 (GRCm39) D106V possibly damaging Het
Col6a2 C T 10: 76,440,004 (GRCm39) V634I possibly damaging Het
Dis3 T C 14: 99,336,215 (GRCm39) E97G probably benign Het
Dlec1 T C 9: 118,939,281 (GRCm39) probably null Het
Dock2 C A 11: 34,197,789 (GRCm39) V1484F possibly damaging Het
Ephb2 T A 4: 136,388,816 (GRCm39) M593L probably benign Het
Fcgrt T C 7: 44,751,484 (GRCm39) T125A probably benign Het
Gabbr1 T C 17: 37,359,319 (GRCm39) I98T probably benign Het
Gbp10 G A 5: 105,384,015 (GRCm39) probably benign Het
Gfod1 T C 13: 43,354,514 (GRCm39) S154G possibly damaging Het
Ggt5 C T 10: 75,445,160 (GRCm39) T389I probably damaging Het
Got2 A G 8: 96,598,896 (GRCm39) F169L probably benign Het
Gse1 A G 8: 121,215,866 (GRCm39) K5E possibly damaging Het
Hyal5 T C 6: 24,891,437 (GRCm39) I417T possibly damaging Het
Igkv4-91 G T 6: 68,745,607 (GRCm39) T97K probably damaging Het
Il4i1 T C 7: 44,489,608 (GRCm39) Y458H possibly damaging Het
Impg1 A T 9: 80,230,106 (GRCm39) C740S probably damaging Het
Itgb1 C G 8: 129,458,535 (GRCm39) T788R possibly damaging Het
Lman2l A G 1: 36,477,907 (GRCm39) V143A probably damaging Het
Ltbp4 G T 7: 27,029,587 (GRCm39) T136K unknown Het
Macf1 A G 4: 123,366,073 (GRCm39) I1331T probably benign Het
Mmp11 G A 10: 75,762,325 (GRCm39) A336V probably damaging Het
Myh2 A T 11: 67,071,879 (GRCm39) I536F probably damaging Het
Myh4 A G 11: 67,141,618 (GRCm39) M826V probably benign Het
Naca T C 10: 127,875,160 (GRCm39) probably benign Het
Nr4a2 A G 2: 57,002,364 (GRCm39) Y30H probably damaging Het
Or12j4 A G 7: 140,046,758 (GRCm39) T215A probably benign Het
Or1e35 A T 11: 73,797,447 (GRCm39) Y290* probably null Het
Or2n1d T A 17: 38,646,064 (GRCm39) N5K probably damaging Het
Or4a67 T A 2: 88,597,934 (GRCm39) I242L probably benign Het
Or4f14d A T 2: 111,960,445 (GRCm39) L237Q probably damaging Het
Or4k42 A T 2: 111,320,095 (GRCm39) M136K probably damaging Het
Or4z4 A G 19: 12,076,484 (GRCm39) V173A possibly damaging Het
Or8g22 T A 9: 38,958,671 (GRCm39) M15L possibly damaging Het
Paqr3 A C 5: 97,256,128 (GRCm39) L82R probably damaging Het
Pex6 C T 17: 47,031,567 (GRCm39) P456S probably benign Het
Pih1d2 A T 9: 50,532,452 (GRCm39) K186I possibly damaging Het
Plekhh3 A G 11: 101,061,013 (GRCm39) probably benign Het
Ptpn23 C A 9: 110,216,849 (GRCm39) probably benign Het
Rcor3 T A 1: 191,812,142 (GRCm39) probably benign Het
Rgs11 T A 17: 26,429,439 (GRCm39) Y403* probably null Het
Scn10a T C 9: 119,464,649 (GRCm39) N984D probably benign Het
Snx14 C T 9: 88,289,392 (GRCm39) A287T possibly damaging Het
Stx3 T C 19: 11,780,874 (GRCm39) D33G probably damaging Het
Tacc2 A G 7: 130,227,494 (GRCm39) K1393R probably damaging Het
Tas2r129 T C 6: 132,928,455 (GRCm39) S131P probably benign Het
Tbx15 G T 3: 99,220,431 (GRCm39) probably null Het
Thada A G 17: 84,700,795 (GRCm39) V1237A probably damaging Het
Tnc A G 4: 63,888,589 (GRCm39) Y1735H probably damaging Het
Ttc22 A G 4: 106,495,780 (GRCm39) K378R probably benign Het
Tubg2 A G 11: 101,051,635 (GRCm39) K287E possibly damaging Het
Ugt3a1 T C 15: 9,310,762 (GRCm39) I348T possibly damaging Het
Unc79 A G 12: 103,027,717 (GRCm39) N436S probably damaging Het
Unc80 A T 1: 66,651,409 (GRCm39) I1585F probably benign Het
Vmn2r104 T C 17: 20,261,909 (GRCm39) Y407C probably damaging Het
Vmn2r108 T A 17: 20,692,447 (GRCm39) L136F probably benign Het
Vmn2r38 A G 7: 9,097,611 (GRCm39) S161P probably damaging Het
Vmn2r90 T C 17: 17,953,606 (GRCm39) I590T probably benign Het
Washc5 T C 15: 59,217,248 (GRCm39) E323G probably damaging Het
Wdhd1 C T 14: 47,505,653 (GRCm39) G273D probably damaging Het
Zfp386 T C 12: 116,023,526 (GRCm39) S380P probably damaging Het
Zfp536 A G 7: 37,173,281 (GRCm39) C274R unknown Het
Zfp64 A G 2: 168,768,088 (GRCm39) I508T probably benign 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
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'- CTCTGCAGGCAAGAGAAAGC -3'
(R):5'- GGGGACATTTCTTCCAGTAGG -3'

Sequencing Primer
(F):5'- TCTTTAGGAACCGGCATGAC -3'
(R):5'- TTTCTTCCAGTAGGAGAGATTAGAG -3'
Posted On 2017-10-10