Incidental Mutation 'R2940:Xpo7'
ID 255152
Institutional Source Beutler Lab
Gene Symbol Xpo7
Ensembl Gene ENSMUSG00000022100
Gene Name exportin 7
Synonyms 4930506C02Rik, Ranbp16
MMRRC Submission 040517-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.230) question?
Stock # R2940 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 70899566-71004075 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 70904576 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 1020 (L1020Q)
Ref Sequence ENSEMBL: ENSMUSP00000154350 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022696] [ENSMUST00000167242] [ENSMUST00000226448] [ENSMUST00000228346]
AlphaFold Q9EPK7
Predicted Effect probably damaging
Transcript: ENSMUST00000022696
AA Change: L1019Q

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000022696
Gene: ENSMUSG00000022100
AA Change: L1019Q

DomainStartEndE-ValueType
IBN_N 30 96 3.52e-6 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000167242
AA Change: L1020Q

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000129504
Gene: ENSMUSG00000022100
AA Change: L1020Q

DomainStartEndE-ValueType
IBN_N 30 96 3.52e-6 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000226448
AA Change: L1019Q

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226607
Predicted Effect probably damaging
Transcript: ENSMUST00000228346
AA Change: L1020Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy2 A G 13: 68,878,424 (GRCm39) W405R probably damaging Het
Apc G A 18: 34,409,723 (GRCm39) R221H probably damaging Het
Armcx6 A T X: 133,650,625 (GRCm39) W69R probably damaging Het
Bltp1 A G 3: 37,012,954 (GRCm39) D1878G probably damaging Het
Carm1 C A 9: 21,490,692 (GRCm39) probably null Het
Clasrp C A 7: 19,319,165 (GRCm39) probably benign Het
Cngb1 T C 8: 95,978,735 (GRCm39) I573V probably benign Het
Crybg2 A G 4: 133,809,745 (GRCm39) H1517R possibly damaging Het
Dixdc1 G A 9: 50,622,259 (GRCm39) A25V probably damaging Het
Dmap1 G A 4: 117,533,202 (GRCm39) T284M possibly damaging Het
Dock6 A G 9: 21,750,496 (GRCm39) F473L possibly damaging Het
Eif3a T C 19: 60,762,115 (GRCm39) T487A probably benign Het
Faiml A G 9: 99,114,527 (GRCm39) C121R probably damaging Het
Fam180a A T 6: 35,290,564 (GRCm39) S140T possibly damaging Het
Fibcd1 T C 2: 31,707,276 (GRCm39) Y327C probably damaging Het
Haghl A G 17: 26,004,060 (GRCm39) V8A possibly damaging Het
Igfbp1 A G 11: 7,151,970 (GRCm39) T258A probably benign Het
Isl1 T C 13: 116,444,835 (GRCm39) T65A possibly damaging Het
Khdrbs3 T A 15: 68,921,239 (GRCm39) D185E probably damaging Het
Klc1 C T 12: 111,772,451 (GRCm39) R157C possibly damaging Het
Lamc3 A G 2: 31,830,714 (GRCm39) S1484G probably benign Het
Lman1 G T 18: 66,117,344 (GRCm39) P466Q possibly damaging Het
Map3k4 C T 17: 12,480,157 (GRCm39) E682K probably damaging Het
Mideas C T 12: 84,203,245 (GRCm39) G886S probably benign Het
Myo9b G A 8: 71,786,981 (GRCm39) R721Q probably benign Het
Nbea C G 3: 55,842,045 (GRCm39) E1879Q probably benign Het
Or8b12i C A 9: 20,082,061 (GRCm39) G269W probably benign Het
Or8g34 G A 9: 39,373,226 (GRCm39) M166I probably benign Het
Pigc T C 1: 161,798,239 (GRCm39) Y74H possibly damaging Het
Plek C T 11: 16,942,887 (GRCm39) probably null Het
Pramel28 A G 4: 143,693,247 (GRCm39) V77A probably benign Het
Rasgrf1 C T 9: 89,873,767 (GRCm39) A692V possibly damaging Het
Rbp3 C T 14: 33,677,975 (GRCm39) T641M probably damaging Het
Rnf25 A G 1: 74,635,047 (GRCm39) V135A possibly damaging Het
Senp6 G A 9: 80,051,124 (GRCm39) A1134T probably benign Het
Sh3rf2 G A 18: 42,244,505 (GRCm39) probably null Het
Sh3tc2 A G 18: 62,122,757 (GRCm39) D506G probably damaging Het
Slc13a1 T A 6: 24,090,779 (GRCm39) I547F possibly damaging Het
Slc26a6 G A 9: 108,734,236 (GRCm39) V206I probably benign Het
Smc1a T A X: 150,816,695 (GRCm39) Y516N probably damaging Het
Sorbs1 T C 19: 40,362,015 (GRCm39) D123G probably damaging Het
Tecta A T 9: 42,289,290 (GRCm39) M425K possibly damaging Het
Trpv1 A G 11: 73,145,675 (GRCm39) K403R probably damaging Het
Ttc39d A G 17: 80,524,982 (GRCm39) Y547C probably damaging Het
Tubb6 A G 18: 67,534,994 (GRCm39) N298D probably damaging Het
Zswim4 A T 8: 84,950,377 (GRCm39) L611Q probably damaging 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
PIT4687001:Xpo7 UTSW 14 70,904,589 (GRCm39) missense probably benign 0.22
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
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'- ATGCACCTCACATCTGGTC -3'
(R):5'- AGTAATCGTTAACAAGCCGCC -3'

Sequencing Primer
(F):5'- CTCACATCTGGTCAATAGAGATGC -3'
(R):5'- GCCGCCTTACAAATTACAAGTTTCTG -3'
Posted On 2014-12-29