Incidental Mutation 'R8438:Xpo6'
ID 654107
Institutional Source Beutler Lab
Gene Symbol Xpo6
Ensembl Gene ENSMUSG00000000131
Gene Name exportin 6
Synonyms Ranbp20, 2610005L19Rik, C230091E20Rik
MMRRC Submission 067778-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.807) question?
Stock # R8438 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 125700887-125799673 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 125760054 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 182 (T182A)
Ref Sequence ENSEMBL: ENSMUSP00000130527 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009344] [ENSMUST00000167147] [ENSMUST00000168189]
AlphaFold Q924Z6
Predicted Effect possibly damaging
Transcript: ENSMUST00000009344
AA Change: T182A

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000009344
Gene: ENSMUSG00000000131
AA Change: T182A

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
SMART Domains Protein: ENSMUSP00000132205
Gene: ENSMUSG00000000131
AA Change: T44A

DomainStartEndE-ValueType
Pfam:Xpo1 1 128 9e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167147
Predicted Effect possibly damaging
Transcript: ENSMUST00000168189
AA Change: T182A

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000130527
Gene: ENSMUSG00000000131
AA Change: T182A

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406C07Rik C T 9: 15,201,962 (GRCm39) probably null Het
5730480H06Rik A T 5: 48,534,425 (GRCm39) H95L probably damaging Het
Abca8a A G 11: 109,966,404 (GRCm39) Y410H probably damaging Het
Abcb4 G A 5: 8,996,120 (GRCm39) probably null Het
Adam8 C T 7: 139,565,249 (GRCm39) probably null Het
Aldh1l1 C T 6: 90,536,428 (GRCm39) P111L probably damaging Het
Baz2b G T 2: 59,747,828 (GRCm39) Y1278* probably null Het
Bsn G A 9: 107,988,651 (GRCm39) A2367V probably benign Het
Casp9 C A 4: 141,540,934 (GRCm39) T434N probably benign Het
Cd19 C A 7: 126,013,515 (GRCm39) M91I possibly damaging Het
Celsr2 G A 3: 108,301,139 (GRCm39) T2718M probably damaging Het
Clptm1 G T 7: 19,379,776 (GRCm39) D153E probably benign Het
Col1a2 G A 6: 4,515,517 (GRCm39) G127S unknown Het
Col1a2 G T 6: 4,515,518 (GRCm39) G127V unknown Het
Crybg3 A G 16: 59,385,655 (GRCm39) S190P probably benign Het
Ddrgk1 G A 2: 130,505,302 (GRCm39) probably benign Het
Dennd1a T C 2: 37,746,150 (GRCm39) H402R probably benign Het
Dgat2 T C 7: 98,806,207 (GRCm39) Y330C probably damaging Het
Dnah7b G A 1: 46,227,839 (GRCm39) C1354Y probably damaging Het
Ecd T A 14: 20,388,533 (GRCm39) I119L possibly damaging Het
Entpd1 A G 19: 40,725,224 (GRCm39) K437E possibly damaging Het
Fcgbp C T 7: 27,789,231 (GRCm39) A599V probably benign Het
Gtf3c1 G T 7: 125,241,701 (GRCm39) S1999* probably null Het
Hesx1 C T 14: 26,723,460 (GRCm39) R97C probably benign Het
Hmcn2 C A 2: 31,281,088 (GRCm39) L1867I probably benign Het
Hoxb3 A G 11: 96,236,609 (GRCm39) N229S probably benign Het
Itpk1 G A 12: 102,572,418 (GRCm39) probably benign Het
Itprid1 C T 6: 55,874,878 (GRCm39) S276L probably damaging Het
Masp1 T C 16: 23,289,153 (GRCm39) D549G probably benign Het
Mef2c A G 13: 83,804,336 (GRCm39) E312G probably damaging Het
Morn5 A G 2: 35,945,076 (GRCm39) K100R probably benign Het
Mphosph9 A T 5: 124,430,455 (GRCm39) D610E probably benign Het
Obox6 G C 7: 15,567,853 (GRCm39) A198G probably damaging Het
Or2t43 A T 11: 58,457,665 (GRCm39) S169T possibly damaging Het
Or4a75 C T 2: 89,448,054 (GRCm39) V161M possibly damaging Het
Or4a80 A T 2: 89,583,061 (GRCm39) M37K probably damaging Het
Or6b13 C A 7: 139,782,170 (GRCm39) C171F probably damaging Het
Pcdhgb2 A G 18: 37,825,232 (GRCm39) N741S probably benign Het
Plekhh2 A G 17: 84,877,379 (GRCm39) N575D probably benign Het
Plxna4 C A 6: 32,179,115 (GRCm39) G967W probably damaging Het
Ppp3cb C T 14: 20,565,658 (GRCm39) M373I probably damaging Het
Sec14l2 C A 11: 4,059,202 (GRCm39) E156* probably null Het
Srrt A T 5: 137,301,262 (GRCm39) Y55N unknown Het
Tchh CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC 3: 93,354,015 (GRCm39) probably benign Het
Thada G A 17: 84,743,057 (GRCm39) T789I probably damaging Het
Top3b G T 16: 16,709,364 (GRCm39) S684I probably benign Het
Trpc4 A G 3: 54,129,674 (GRCm39) I147V possibly damaging Het
Tubgcp5 T A 7: 55,454,363 (GRCm39) H219Q possibly damaging Het
Uck1 C A 2: 32,150,153 (GRCm39) probably benign Het
Vmn1r31 T A 6: 58,449,646 (GRCm39) D73V Het
Wasf3 A T 5: 146,390,237 (GRCm39) Q127L probably benign Het
Xpo7 C A 14: 70,940,672 (GRCm39) R139S probably benign Het
Zfp687 A T 3: 94,915,433 (GRCm39) S1058T probably benign Het
Zfp786 T C 6: 47,796,934 (GRCm39) E668G probably damaging Het
Zfp831 A T 2: 174,486,796 (GRCm39) R490S possibly damaging 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
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
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'- TCTGAGGTTTTACCATGCACTAG -3'
(R):5'- GGCTCAACACTTCACTTTTAGTTG -3'

Sequencing Primer
(F):5'- TACCATGCACTAGACTGTGGC -3'
(R):5'- AGCTCATTAGTTCTATTCTGCTCAG -3'
Posted On 2020-10-20