Incidental Mutation 'IGL01370:Xpot'
ID278318
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Xpot
Ensembl Gene ENSMUSG00000034667
Gene Nameexportin, tRNA (nuclear export receptor for tRNAs)
Synonyms1110004L07Rik, C79645, EXPORTIN-T
Accession Numbers

Genbank: NM_001081056; MGI: 1920442

Is this an essential gene? Probably essential (E-score: 0.848) question?
Stock #IGL01370
Quality Score
Status
Chromosome10
Chromosomal Location121587380-121626332 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 121604494 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Serine at position 611 (A611S)
Ref Sequence ENSEMBL: ENSMUSP00000043488 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039810] [ENSMUST00000217865] [ENSMUST00000218004]
Predicted Effect probably benign
Transcript: ENSMUST00000039810
AA Change: A611S

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000043488
Gene: ENSMUSG00000034667
AA Change: A611S

DomainStartEndE-ValueType
IBN_N 21 89 1.37e-3 SMART
Pfam:Xpo1 98 248 5.1e-42 PFAM
low complexity region 386 399 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000217865
Predicted Effect probably benign
Transcript: ENSMUST00000218004
AA Change: A610S

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218973
Predicted Effect probably benign
Transcript: ENSMUST00000219334
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein belonging to the RAN-GTPase exportin family that mediates export of tRNA from the nucleus to the cytoplasm. Translocation of tRNA to the cytoplasm occurs once exportin has bound both tRNA and GTP-bound RAN. [provided by RefSeq, Jul 2008]
Allele List at MGI

All alleles(22) : Targeted, other(2) Gene trapped(20)

Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T A 3: 36,947,755 I1283N probably benign Het
Adck1 A T 12: 88,456,733 probably benign Het
Add1 C T 5: 34,630,515 T210I probably damaging Het
Alpk2 A T 18: 65,350,591 D115E possibly damaging Het
Ankrd36 C T 11: 5,584,019 T290I probably benign Het
Ccnt2 T C 1: 127,803,513 F709S possibly damaging Het
Erc1 T C 6: 119,824,465 E197G probably damaging Het
Ftsj3 G T 11: 106,252,319 R390S possibly damaging Het
Gabrb3 G A 7: 57,816,478 A347T probably benign Het
Gatsl2 T C 5: 134,138,272 V323A probably benign Het
Gde1 A G 7: 118,689,160 probably benign Het
Gm996 T C 2: 25,578,957 E314G possibly damaging Het
Jhy A T 9: 40,917,142 N489K probably benign Het
Kiss1r A G 10: 79,918,824 T51A probably benign Het
Lama5 T C 2: 180,197,400 S772G possibly damaging Het
Lamb2 G T 9: 108,487,733 probably null Het
Loxl3 A G 6: 83,049,487 T475A probably damaging Het
Lpl A T 8: 68,887,568 S72C possibly damaging Het
Lrrc74a A T 12: 86,754,430 I352F probably damaging Het
Mcoln2 T C 3: 146,181,830 I334T possibly damaging Het
Mettl8 T G 2: 70,982,039 D49A probably damaging Het
Ms4a3 T A 19: 11,632,881 T106S probably benign Het
Obscn T A 11: 58,995,563 probably null Het
Olfr108 C A 17: 37,445,714 H64Q probably benign Het
Olfr113 T C 17: 37,574,521 I301V probably null Het
Olfr1461 A T 19: 13,165,299 Y95F possibly damaging Het
Olfr406 G A 11: 74,269,499 V37I probably benign Het
Olfr732 G T 14: 50,282,232 T7K probably damaging Het
Pcnx2 T C 8: 125,801,483 K1333E probably damaging Het
Pias3 T C 3: 96,703,575 F364L probably damaging Het
Piezo2 T A 18: 63,022,460 I2438F probably damaging Het
Plcb3 A C 19: 6,962,824 V465G probably damaging Het
Plekho2 G T 9: 65,558,630 H159N probably damaging Het
Polr2e A G 10: 80,036,847 probably benign Het
Rab6b G T 9: 103,163,895 V163L probably benign Het
Rabep1 A G 11: 70,925,781 M597V probably benign Het
Rbm15 A G 3: 107,331,010 S691P probably damaging Het
Sec24b G A 3: 130,007,604 probably benign Het
Slc6a18 A G 13: 73,667,031 I386T probably damaging Het
Stxbp3 A C 3: 108,797,425 Y497* probably null Het
Styk1 T C 6: 131,301,652 K353R probably damaging Het
Tbc1d10b A T 7: 127,199,081 H629Q probably damaging Het
Tbc1d5 T A 17: 50,966,727 I119F probably benign Het
Tcp11l1 G T 2: 104,706,486 D11E probably benign Het
Tfap2d A G 1: 19,104,785 Y154C probably damaging Het
Tgm5 T C 2: 121,053,537 N325S probably benign Het
Thbs2 T C 17: 14,690,065 K91E possibly damaging Het
Vmn2r26 T A 6: 124,061,756 F763L probably benign Het
Washc4 A G 10: 83,558,830 E308G probably damaging Het
Other mutations in Xpot
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00340:Xpot APN 10 121605644 missense probably benign
IGL01286:Xpot APN 10 121602338 missense probably benign 0.03
IGL01364:Xpot APN 10 121604494 missense probably benign 0.08
IGL01516:Xpot APN 10 121590222 unclassified probably null
IGL01530:Xpot APN 10 121611528 missense probably damaging 0.99
IGL02047:Xpot APN 10 121601362 unclassified probably benign
IGL02207:Xpot APN 10 121613580 missense probably damaging 1.00
IGL02340:Xpot APN 10 121615204 missense probably damaging 1.00
IGL02408:Xpot APN 10 121603165 missense probably damaging 1.00
IGL03150:Xpot APN 10 121609186 missense probably benign 0.00
IGL03210:Xpot APN 10 121615227 splice site probably benign
3-1:Xpot UTSW 10 121613359 missense probably benign 0.00
R0077:Xpot UTSW 10 121605639 missense probably benign 0.09
R1750:Xpot UTSW 10 121603027 critical splice donor site probably null
R1806:Xpot UTSW 10 121607638 splice site probably benign
R1950:Xpot UTSW 10 121619148 missense probably benign
R2227:Xpot UTSW 10 121622860 missense probably damaging 0.98
R2304:Xpot UTSW 10 121611583 missense probably benign 0.02
R3914:Xpot UTSW 10 121604538 missense possibly damaging 0.72
R4784:Xpot UTSW 10 121615063 unclassified probably null
R4884:Xpot UTSW 10 121606808 missense probably damaging 1.00
R4904:Xpot UTSW 10 121617178 missense probably benign 0.00
R5218:Xpot UTSW 10 121619138 missense probably damaging 0.99
R5361:Xpot UTSW 10 121600860 missense possibly damaging 0.71
R5651:Xpot UTSW 10 121604549 missense probably damaging 0.99
R5894:Xpot UTSW 10 121613646 missense probably damaging 1.00
R5915:Xpot UTSW 10 121615093 missense probably damaging 0.97
R6139:Xpot UTSW 10 121611708 missense probably benign 0.41
R6182:Xpot UTSW 10 121606258 missense probably damaging 1.00
R6896:Xpot UTSW 10 121613485 critical splice donor site probably null
R7024:Xpot UTSW 10 121602399 missense probably benign 0.35
R7146:Xpot UTSW 10 121606773 missense not run
Z1088:Xpot UTSW 10 121601323 missense probably damaging 0.99
Posted On2015-04-16