Incidental Mutation 'IGL00785:Xpo5'
ID 14886
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Xpo5
Ensembl Gene ENSMUSG00000067150
Gene Name exportin 5
Synonyms Exp5, 2410004H11Rik, 2700038C24Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00785
Quality Score
Status
Chromosome 17
Chromosomal Location 46513737-46554524 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 46515618 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 48 (V48A)
Ref Sequence ENSEMBL: ENSMUSP00000084257 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024749] [ENSMUST00000087031]
AlphaFold Q924C1
Predicted Effect probably benign
Transcript: ENSMUST00000024749
SMART Domains Protein: ENSMUSP00000024749
Gene: ENSMUSG00000023953

DomainStartEndE-ValueType
Pfam:IMS 12 227 9.7e-53 PFAM
Pfam:IMS_C 308 435 5.8e-15 PFAM
low complexity region 515 529 N/A INTRINSIC
low complexity region 540 561 N/A INTRINSIC
PDB:2I5O|A 606 643 7e-15 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000087031
AA Change: V48A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000084257
Gene: ENSMUSG00000067150
AA Change: V48A

DomainStartEndE-ValueType
IBN_N 33 100 6.73e-3 SMART
Pfam:Xpo1 109 271 1.4e-34 PFAM
low complexity region 326 342 N/A INTRINSIC
low complexity region 770 779 N/A INTRINSIC
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 member of the karyopherin family that is required for the transport of small RNAs and double-stranded RNA-binding proteins from the nucleus to the cytoplasm. The encoded protein translocates cargo through the nuclear pore complex in a RanGTP-dependent process. [provided by RefSeq, Aug 2011]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cpt1a T A 19: 3,416,389 (GRCm39) N313K possibly damaging Het
Crb2 G A 2: 37,682,076 (GRCm39) C819Y probably damaging Het
Ctnna3 T G 10: 63,402,612 (GRCm39) F108V probably damaging Het
Faim G A 9: 98,874,218 (GRCm39) G15R probably damaging Het
Fam120a A G 13: 49,042,609 (GRCm39) S931P probably benign Het
Ganc A C 2: 120,272,079 (GRCm39) Y579S probably damaging Het
Hsd17b12 A G 2: 93,875,759 (GRCm39) S189P probably damaging Het
Itprid2 A G 2: 79,487,612 (GRCm39) E565G possibly damaging Het
Kif11 C A 19: 37,392,745 (GRCm39) L559I probably benign Het
Kif11 T C 19: 37,392,746 (GRCm39) L559P probably damaging Het
Luc7l2 T C 6: 38,575,721 (GRCm39) S261P possibly damaging Het
Myo7a T C 7: 97,703,555 (GRCm39) K2035E probably damaging Het
Nbea A G 3: 55,862,814 (GRCm39) S1813P probably benign Het
Osbpl8 A G 10: 111,108,905 (GRCm39) T396A probably benign Het
Ppfibp2 A G 7: 107,337,094 (GRCm39) T560A probably benign Het
Rictor A C 15: 6,806,431 (GRCm39) Q683P probably damaging Het
Ryr3 A T 2: 112,666,448 (GRCm39) H1519Q possibly damaging Het
Slc34a2 A T 5: 53,222,950 (GRCm39) I347F probably benign Het
Sned1 C A 1: 93,201,891 (GRCm39) probably benign Het
St7l A G 3: 104,780,895 (GRCm39) probably benign Het
Trmu T A 15: 85,767,032 (GRCm39) D80E probably benign Het
Trpv4 A G 5: 114,766,686 (GRCm39) V620A probably damaging Het
Ubr2 G A 17: 47,255,791 (GRCm39) T1370I possibly damaging Het
Zfp638 T C 6: 83,906,146 (GRCm39) W104R probably damaging Het
Other mutations in Xpo5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00341:Xpo5 APN 17 46,535,973 (GRCm39) missense probably damaging 1.00
IGL00650:Xpo5 APN 17 46,519,172 (GRCm39) missense probably damaging 1.00
IGL01869:Xpo5 APN 17 46,553,133 (GRCm39) missense possibly damaging 0.75
IGL01929:Xpo5 APN 17 46,513,855 (GRCm39) missense probably benign 0.13
IGL02433:Xpo5 APN 17 46,550,446 (GRCm39) missense probably damaging 0.99
IGL02550:Xpo5 APN 17 46,540,255 (GRCm39) missense probably benign 0.16
IGL02637:Xpo5 APN 17 46,546,905 (GRCm39) missense probably damaging 1.00
IGL02942:Xpo5 APN 17 46,519,059 (GRCm39) missense probably damaging 0.99
IGL03004:Xpo5 APN 17 46,518,766 (GRCm39) missense probably damaging 1.00
IGL03149:Xpo5 APN 17 46,526,740 (GRCm39) splice site probably null
IGL03296:Xpo5 APN 17 46,532,320 (GRCm39) nonsense probably null
fortify UTSW 17 46,532,347 (GRCm39) missense probably benign 0.01
fortissimo UTSW 17 46,546,896 (GRCm39) missense probably benign 0.36
PIT4403001:Xpo5 UTSW 17 46,550,495 (GRCm39) missense probably benign 0.01
R0009:Xpo5 UTSW 17 46,515,712 (GRCm39) splice site probably benign
R0009:Xpo5 UTSW 17 46,515,712 (GRCm39) splice site probably benign
R0035:Xpo5 UTSW 17 46,551,101 (GRCm39) missense probably benign
R0276:Xpo5 UTSW 17 46,552,433 (GRCm39) missense probably damaging 1.00
R0626:Xpo5 UTSW 17 46,532,359 (GRCm39) missense probably damaging 1.00
R0843:Xpo5 UTSW 17 46,533,576 (GRCm39) splice site probably benign
R1440:Xpo5 UTSW 17 46,518,853 (GRCm39) splice site probably benign
R1506:Xpo5 UTSW 17 46,538,814 (GRCm39) missense probably benign 0.04
R1513:Xpo5 UTSW 17 46,537,906 (GRCm39) missense probably benign 0.06
R2060:Xpo5 UTSW 17 46,536,017 (GRCm39) missense probably damaging 1.00
R2258:Xpo5 UTSW 17 46,551,822 (GRCm39) nonsense probably null
R2259:Xpo5 UTSW 17 46,551,822 (GRCm39) nonsense probably null
R2260:Xpo5 UTSW 17 46,551,822 (GRCm39) nonsense probably null
R2263:Xpo5 UTSW 17 46,541,269 (GRCm39) missense probably benign
R3016:Xpo5 UTSW 17 46,531,757 (GRCm39) missense probably damaging 1.00
R3149:Xpo5 UTSW 17 46,553,173 (GRCm39) splice site probably null
R3150:Xpo5 UTSW 17 46,553,173 (GRCm39) splice site probably null
R4613:Xpo5 UTSW 17 46,547,889 (GRCm39) missense probably benign
R4784:Xpo5 UTSW 17 46,533,643 (GRCm39) missense possibly damaging 0.59
R4808:Xpo5 UTSW 17 46,546,896 (GRCm39) missense probably benign 0.36
R4981:Xpo5 UTSW 17 46,531,743 (GRCm39) missense probably damaging 0.99
R5159:Xpo5 UTSW 17 46,528,535 (GRCm39) missense probably damaging 1.00
R5286:Xpo5 UTSW 17 46,545,406 (GRCm39) missense probably benign
R5294:Xpo5 UTSW 17 46,547,848 (GRCm39) missense probably benign 0.12
R5550:Xpo5 UTSW 17 46,545,418 (GRCm39) missense possibly damaging 0.87
R5750:Xpo5 UTSW 17 46,529,556 (GRCm39) critical splice donor site probably null
R5774:Xpo5 UTSW 17 46,552,772 (GRCm39) nonsense probably null
R5921:Xpo5 UTSW 17 46,532,347 (GRCm39) missense probably benign 0.01
R6165:Xpo5 UTSW 17 46,546,883 (GRCm39) missense possibly damaging 0.53
R6576:Xpo5 UTSW 17 46,551,734 (GRCm39) splice site probably null
R7244:Xpo5 UTSW 17 46,525,551 (GRCm39) missense probably damaging 1.00
R7414:Xpo5 UTSW 17 46,532,295 (GRCm39) missense probably benign
R7737:Xpo5 UTSW 17 46,547,016 (GRCm39) splice site probably null
R8144:Xpo5 UTSW 17 46,519,145 (GRCm39) missense probably benign 0.09
R8752:Xpo5 UTSW 17 46,547,838 (GRCm39) critical splice acceptor site probably benign
R8882:Xpo5 UTSW 17 46,538,666 (GRCm39) missense possibly damaging 0.82
R9370:Xpo5 UTSW 17 46,546,844 (GRCm39) missense probably damaging 1.00
X0019:Xpo5 UTSW 17 46,545,470 (GRCm39) missense probably benign 0.00
X0062:Xpo5 UTSW 17 46,541,192 (GRCm39) missense probably damaging 1.00
Z1176:Xpo5 UTSW 17 46,531,688 (GRCm39) missense probably benign 0.11
Z1177:Xpo5 UTSW 17 46,536,050 (GRCm39) missense probably benign 0.32
Posted On 2012-12-06