Incidental Mutation 'IGL01364:Xpot'
ID278315
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: 0.943) question?
Stock #IGL01364
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430573F11Rik A G 8: 36,512,347 K368R probably benign Het
Aco1 C A 4: 40,181,380 probably null Het
Acot6 T C 12: 84,101,066 V32A possibly damaging Het
Aff3 A T 1: 38,535,681 L73I probably damaging Het
Aldh1l2 C A 10: 83,492,667 D729Y probably damaging Het
Alox15 T C 11: 70,345,166 Q525R possibly damaging Het
Atr T C 9: 95,865,624 Y320H probably benign Het
Atxn3 C T 12: 101,934,423 probably benign Het
Caprin2 C A 6: 148,873,028 S262I probably benign Het
Ccar1 T C 10: 62,776,874 probably null Het
Ccdc14 T A 16: 34,723,213 L647H probably damaging Het
Cd300lf T C 11: 115,126,350 D49G probably benign Het
Csmd2 A G 4: 128,414,288 T1280A probably benign Het
Ddb1 T C 19: 10,627,660 probably null Het
Dnah9 A G 11: 66,155,459 Y88H probably damaging Het
Enpp1 T C 10: 24,664,614 T351A probably damaging Het
Evi2b T A 11: 79,516,623 Y42F probably benign Het
Fdps A T 3: 89,094,270 C274* probably null Het
Flnb A C 14: 7,934,562 probably null Het
Herc1 T A 9: 66,399,361 V917E probably benign Het
Hmcn2 C T 2: 31,361,814 Q854* probably null Het
Hmgxb3 T C 18: 61,146,434 Y769C probably damaging Het
Hps3 G T 3: 20,003,305 Q772K possibly damaging Het
Ifnab T C 4: 88,690,750 S160G probably damaging Het
Kalrn T C 16: 34,262,629 E652G probably damaging Het
Kat6a T C 8: 22,907,700 L255S probably damaging Het
Kbtbd7 T A 14: 79,428,046 D439E possibly damaging Het
Kcnn4 T C 7: 24,381,703 F289L probably benign Het
Mapk6 A C 9: 75,388,790 D475E possibly damaging Het
Msh5 A G 17: 35,028,769 V825A possibly damaging Het
Mst1 A G 9: 108,081,601 I111V probably benign Het
Myo1h T A 5: 114,348,439 I586N probably damaging Het
Olfr1280 G T 2: 111,315,670 A64S probably damaging Het
Panx1 C T 9: 15,021,465 V80M probably damaging Het
Polr3b T A 10: 84,695,669 I803N probably benign Het
Rasa4 T C 5: 136,095,571 V158A possibly damaging Het
Rbp3 T A 14: 33,954,188 M31K possibly damaging Het
Rpl3l A G 17: 24,732,430 K154E probably benign Het
Sec24a A T 11: 51,713,529 probably null Het
Sox5 C T 6: 144,116,472 M151I probably damaging Het
Sun1 T A 5: 139,234,741 L290Q probably damaging Het
Tm9sf2 T A 14: 122,143,460 I155N probably damaging Het
Tuft1 A G 3: 94,635,503 probably benign Het
Ubash3b A G 9: 41,018,015 probably null Het
Vwa1 A G 4: 155,770,743 probably null Het
Wnk1 T C 6: 119,937,411 E80G 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
IGL01370: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 probably damaging 1.00
R7272:Xpot UTSW 10 121617189 critical splice acceptor site probably null
Z1088:Xpot UTSW 10 121601323 missense probably damaging 0.99
Posted On2015-04-16