Incidental Mutation 'PIT4687001:Xpo7'
ID 556203
Institutional Source Beutler Lab
Gene Symbol Xpo7
Ensembl Gene ENSMUSG00000022100
Gene Name exportin 7
Synonyms 4930506C02Rik, Ranbp16
Accession Numbers
Essential gene? Probably non essential (E-score: 0.230) question?
Stock # PIT4687001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 70899566-71004075 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 70904589 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 1015 (Y1015N)
Ref Sequence ENSEMBL: ENSMUSP00000022696 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022696] [ENSMUST00000167242] [ENSMUST00000226448] [ENSMUST00000228346]
AlphaFold Q9EPK7
Predicted Effect probably benign
Transcript: ENSMUST00000022696
AA Change: Y1015N

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000022696
Gene: ENSMUSG00000022100
AA Change: Y1015N

DomainStartEndE-ValueType
IBN_N 30 96 3.52e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000167242
AA Change: Y1016N

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000129504
Gene: ENSMUSG00000022100
AA Change: Y1016N

DomainStartEndE-ValueType
IBN_N 30 96 3.52e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000226448
AA Change: Y1015N

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably damaging
Transcript: ENSMUST00000228346
AA Change: Y1016N

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
Coding Region Coverage
  • 1x: 93.4%
  • 3x: 90.8%
  • 10x: 84.7%
  • 20x: 71.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The transport of protein and large RNAs through the nuclear pore complexes (NPC) is an energy-dependent and regulated process. The import of proteins with a nuclear localization signal (NLS) is accomplished by recognition of one or more clusters of basic amino acids by the importin-alpha/beta complex; see MIM 600685 and MIM 602738. The small GTPase RAN (MIM 601179) plays a key role in NLS-dependent protein import. RAN-binding protein-16 is a member of the importin-beta superfamily of nuclear transport receptors.[supplied by OMIM, Jul 2002]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh1 T G 3: 137,995,596 (GRCm39) V333G probably damaging Het
Aggf1 A G 13: 95,501,383 (GRCm39) L333P probably damaging Het
Ankmy1 A G 1: 92,812,803 (GRCm39) V502A probably benign Het
Atm A G 9: 53,398,112 (GRCm39) probably null Het
Ccdc180 A G 4: 45,949,526 (GRCm39) T1594A probably damaging Het
Cep290 T A 10: 100,373,453 (GRCm39) D1244E probably benign Het
Ctnna3 A G 10: 64,670,385 (GRCm39) D638G probably damaging Het
Ctsr T C 13: 61,308,346 (GRCm39) H266R possibly damaging Het
D630045J12Rik C T 6: 38,172,036 (GRCm39) E711K probably benign Het
Dnah5 T C 15: 28,383,723 (GRCm39) S2982P probably damaging Het
Dsg1a G T 18: 20,464,755 (GRCm39) A417S probably benign Het
Gdpd1 T C 11: 86,950,366 (GRCm39) D69G probably damaging Het
Gp2 C T 7: 119,050,801 (GRCm39) R310H possibly damaging Het
Ifna2 G A 4: 88,601,542 (GRCm39) H159Y possibly damaging Het
Kptn T C 7: 15,859,751 (GRCm39) V325A probably damaging Het
Marchf7 A G 2: 60,062,622 (GRCm39) E143G probably damaging Het
Mcm4 A G 16: 15,454,577 (GRCm39) L47P probably benign Het
Mcm8 T C 2: 132,659,097 (GRCm39) F27S possibly damaging Het
Nod2 T A 8: 89,408,274 (GRCm39) V967E probably damaging Het
Nrxn2 G A 19: 6,531,338 (GRCm39) R659Q probably benign Het
Or10al4 T G 17: 38,037,082 (GRCm39) C56G probably benign Het
Or4x12-ps1 A G 2: 89,916,733 (GRCm39) V24A probably benign Het
Parp10 C T 15: 76,125,122 (GRCm39) R545Q probably benign Het
Ppp2r3d T C 9: 101,021,579 (GRCm39) E332G probably benign Het
Pramel27 C T 4: 143,573,103 (GRCm39) probably benign Het
Ptpdc1 A G 13: 48,739,766 (GRCm39) V555A probably benign Het
Qsox2 G A 2: 26,112,300 (GRCm39) L81F possibly damaging Het
Sbsn GAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCA GAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCA 7: 30,452,391 (GRCm39) probably benign Het
Spata31 A G 13: 65,069,151 (GRCm39) D433G probably benign Het
Stpg2 T C 3: 138,921,026 (GRCm39) I77T possibly damaging Het
Sugp2 T C 8: 70,710,162 (GRCm39) S928P probably damaging Het
Syne1 A G 10: 5,308,390 (GRCm39) S722P possibly damaging Het
Szt2 A T 4: 118,255,398 (GRCm39) S229T possibly damaging Het
Tm9sf3 A G 19: 41,206,630 (GRCm39) L505P probably damaging Het
Ttc39d G A 17: 80,524,354 (GRCm39) A338T probably damaging Het
Ubash3b A G 9: 40,934,814 (GRCm39) F489L probably damaging Het
Zbtb14 C A 17: 69,695,302 (GRCm39) Y333* probably null Het
Zp2 T C 7: 119,741,102 (GRCm39) T141A probably benign Het
Other mutations in Xpo7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00946:Xpo7 APN 14 70,909,098 (GRCm39) missense probably benign 0.32
IGL01066:Xpo7 APN 14 70,939,195 (GRCm39) missense probably benign 0.01
IGL01610:Xpo7 APN 14 70,940,670 (GRCm39) missense probably damaging 1.00
IGL01716:Xpo7 APN 14 70,922,995 (GRCm39) missense probably damaging 1.00
IGL01885:Xpo7 APN 14 70,903,475 (GRCm39) missense probably benign 0.03
IGL02647:Xpo7 APN 14 70,922,905 (GRCm39) missense probably damaging 1.00
IGL03088:Xpo7 APN 14 70,918,702 (GRCm39) missense probably benign 0.09
IGL03245:Xpo7 APN 14 70,925,734 (GRCm39) missense probably damaging 1.00
BB010:Xpo7 UTSW 14 70,944,788 (GRCm39) missense probably benign 0.05
BB020:Xpo7 UTSW 14 70,944,788 (GRCm39) missense probably benign 0.05
G1patch:Xpo7 UTSW 14 70,914,253 (GRCm39) missense probably damaging 1.00
R0893:Xpo7 UTSW 14 70,903,537 (GRCm39) splice site probably benign
R1222:Xpo7 UTSW 14 70,904,524 (GRCm39) missense possibly damaging 0.55
R1474:Xpo7 UTSW 14 70,936,473 (GRCm39) missense probably benign 0.00
R1509:Xpo7 UTSW 14 70,915,582 (GRCm39) missense probably damaging 0.99
R1867:Xpo7 UTSW 14 70,931,431 (GRCm39) missense probably damaging 1.00
R1898:Xpo7 UTSW 14 70,933,064 (GRCm39) missense probably benign 0.20
R2105:Xpo7 UTSW 14 70,928,431 (GRCm39) missense probably benign 0.02
R2369:Xpo7 UTSW 14 70,925,171 (GRCm39) nonsense probably null
R2937:Xpo7 UTSW 14 70,909,130 (GRCm39) missense probably damaging 0.99
R2938:Xpo7 UTSW 14 70,909,130 (GRCm39) missense probably damaging 0.99
R2940:Xpo7 UTSW 14 70,904,577 (GRCm39) missense probably benign 0.38
R2940:Xpo7 UTSW 14 70,904,576 (GRCm39) missense probably damaging 1.00
R3001:Xpo7 UTSW 14 70,930,085 (GRCm39) splice site probably benign
R4436:Xpo7 UTSW 14 70,906,869 (GRCm39) missense probably damaging 1.00
R4529:Xpo7 UTSW 14 70,906,188 (GRCm39) missense probably damaging 1.00
R4873:Xpo7 UTSW 14 70,914,256 (GRCm39) critical splice acceptor site probably null
R4875:Xpo7 UTSW 14 70,914,256 (GRCm39) critical splice acceptor site probably null
R4907:Xpo7 UTSW 14 70,908,069 (GRCm39) missense probably benign 0.16
R5007:Xpo7 UTSW 14 70,925,704 (GRCm39) missense probably damaging 1.00
R5282:Xpo7 UTSW 14 70,921,171 (GRCm39) missense probably damaging 1.00
R5346:Xpo7 UTSW 14 70,921,117 (GRCm39) missense probably damaging 1.00
R5522:Xpo7 UTSW 14 70,909,090 (GRCm39) nonsense probably null
R5533:Xpo7 UTSW 14 70,931,407 (GRCm39) missense probably damaging 1.00
R5668:Xpo7 UTSW 14 70,920,286 (GRCm39) missense possibly damaging 0.52
R6042:Xpo7 UTSW 14 70,933,103 (GRCm39) missense possibly damaging 0.47
R6052:Xpo7 UTSW 14 70,921,159 (GRCm39) missense possibly damaging 0.68
R6066:Xpo7 UTSW 14 70,919,778 (GRCm39) missense probably null 0.99
R6085:Xpo7 UTSW 14 70,934,051 (GRCm39) missense probably benign 0.38
R6180:Xpo7 UTSW 14 70,920,243 (GRCm39) missense probably benign 0.14
R6291:Xpo7 UTSW 14 70,942,130 (GRCm39) nonsense probably null
R6401:Xpo7 UTSW 14 70,919,787 (GRCm39) missense probably damaging 1.00
R6593:Xpo7 UTSW 14 70,919,802 (GRCm39) missense probably damaging 0.99
R6725:Xpo7 UTSW 14 70,914,253 (GRCm39) missense probably damaging 1.00
R6938:Xpo7 UTSW 14 70,903,464 (GRCm39) missense probably benign 0.00
R6996:Xpo7 UTSW 14 70,906,888 (GRCm39) missense probably benign
R7020:Xpo7 UTSW 14 70,903,463 (GRCm39) missense probably benign 0.00
R7053:Xpo7 UTSW 14 70,922,298 (GRCm39) critical splice donor site probably null
R7061:Xpo7 UTSW 14 70,908,512 (GRCm39) missense probably benign 0.04
R7095:Xpo7 UTSW 14 70,942,146 (GRCm39) missense probably damaging 1.00
R7604:Xpo7 UTSW 14 70,909,110 (GRCm39) missense probably damaging 1.00
R7933:Xpo7 UTSW 14 70,944,788 (GRCm39) missense probably benign 0.05
R8044:Xpo7 UTSW 14 70,922,366 (GRCm39) missense probably benign 0.18
R8438:Xpo7 UTSW 14 70,940,672 (GRCm39) missense probably benign 0.02
R8495:Xpo7 UTSW 14 70,907,989 (GRCm39) critical splice donor site probably null
R8518:Xpo7 UTSW 14 70,944,837 (GRCm39) missense probably damaging 1.00
R9018:Xpo7 UTSW 14 70,944,864 (GRCm39) nonsense probably null
R9129:Xpo7 UTSW 14 70,909,113 (GRCm39) missense probably benign 0.00
R9385:Xpo7 UTSW 14 70,925,733 (GRCm39) missense probably damaging 1.00
R9567:Xpo7 UTSW 14 70,903,466 (GRCm39) missense probably benign 0.00
R9569:Xpo7 UTSW 14 70,906,140 (GRCm39) missense possibly damaging 0.80
R9610:Xpo7 UTSW 14 70,925,617 (GRCm39) missense probably benign 0.32
R9611:Xpo7 UTSW 14 70,925,617 (GRCm39) missense probably benign 0.32
X0062:Xpo7 UTSW 14 70,922,968 (GRCm39) missense probably damaging 1.00
Z1176:Xpo7 UTSW 14 70,930,150 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- ATGCACCTCACATCTGGTCAATAG -3'
(R):5'- CAGTAATCGTTAACAAGCCGC -3'

Sequencing Primer
(F):5'- CTCACATCTGGTCAATAGAGATGC -3'
(R):5'- GCCGCCTTACAAATTACAAGTTTCTG -3'
Posted On 2019-06-07