Incidental Mutation 'R6725:Xpo7'
ID 529839
Institutional Source Beutler Lab
Gene Symbol Xpo7
Ensembl Gene ENSMUSG00000022100
Gene Name exportin 7
Synonyms 4930506C02Rik, Ranbp16
MMRRC Submission 044843-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.230) question?
Stock # R6725 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 70899566-71004075 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 70914253 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 748 (Y748N)
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: Y747N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022696
Gene: ENSMUSG00000022100
AA Change: Y747N

DomainStartEndE-ValueType
IBN_N 30 96 3.52e-6 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000167242
AA Change: Y748N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129504
Gene: ENSMUSG00000022100
AA Change: Y748N

DomainStartEndE-ValueType
IBN_N 30 96 3.52e-6 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000226448
AA Change: Y747N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226607
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227550
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228317
Predicted Effect probably damaging
Transcript: ENSMUST00000228346
AA Change: Y748N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.7%
Validation Efficiency 100% (55/55)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts18 T C 8: 114,469,833 (GRCm39) Y623C probably damaging Het
Adgrv1 T C 13: 81,585,676 (GRCm39) E4596G probably damaging Het
Adgrv1 A T 13: 81,641,329 (GRCm39) C3267S probably damaging Het
Ankrd40 T G 11: 94,225,641 (GRCm39) V224G probably benign Het
Ap3s2 C T 7: 79,570,390 (GRCm39) probably benign Het
Apip T A 2: 102,922,870 (GRCm39) D229E possibly damaging Het
Atp2b4 C T 1: 133,634,725 (GRCm39) R1168H probably benign Het
Bcan T C 3: 87,902,791 (GRCm39) K329R possibly damaging Het
Camk1g T C 1: 193,032,628 (GRCm39) D261G possibly damaging Het
Ccdc30 T A 4: 119,188,796 (GRCm39) Q490L probably damaging Het
Ccdc83 A G 7: 89,896,261 (GRCm39) W103R probably damaging Het
Ctsl T A 13: 64,514,437 (GRCm39) R69* probably null Het
Dchs1 C T 7: 105,408,000 (GRCm39) R1944H probably damaging Het
Fgb T C 3: 82,951,098 (GRCm39) Y305C probably damaging Het
Fras1 T A 5: 96,929,199 (GRCm39) Y3868N possibly damaging Het
Gal3st2 T A 1: 93,801,424 (GRCm39) S27T probably benign Het
Galnt13 A G 2: 54,745,244 (GRCm39) D228G probably damaging Het
Gk5 A T 9: 96,037,523 (GRCm39) T346S probably benign Het
Gnrhr T C 5: 86,333,172 (GRCm39) I233V probably damaging Het
Greb1 T C 12: 16,738,568 (GRCm39) Y1465C probably damaging Het
H6pd A G 4: 150,080,815 (GRCm39) L10P probably damaging Het
Hspg2 G A 4: 137,242,618 (GRCm39) G611E probably damaging Het
Ighv7-4 A T 12: 114,186,489 (GRCm39) D94E probably damaging Het
Lamb3 T C 1: 192,986,890 (GRCm39) Y59H probably benign Het
Msantd1 C T 5: 35,078,765 (GRCm39) T100I probably damaging Het
Msx3 T A 7: 139,628,659 (GRCm39) probably benign Het
Mttp C A 3: 137,812,999 (GRCm39) A559S probably damaging Het
Myh1 C G 11: 67,092,719 (GRCm39) D4E probably damaging Het
Or2ah1 A G 2: 85,654,134 (GRCm39) K273R probably damaging Het
Or4c116 G T 2: 88,942,640 (GRCm39) T72N possibly damaging Het
Or4k45 C T 2: 111,395,252 (GRCm39) C179Y probably damaging Het
Or52e19 A T 7: 102,959,561 (GRCm39) D211V probably damaging Het
Pcdhac1 T C 18: 37,223,381 (GRCm39) Y65H probably damaging Het
Pcdhga8 A T 18: 37,860,315 (GRCm39) Y457F probably damaging Het
Pi4ka A G 16: 17,194,846 (GRCm39) L184P possibly damaging Het
Pja2 A T 17: 64,596,962 (GRCm39) M514K probably damaging Het
Plcxd2 T C 16: 45,792,488 (GRCm39) N284D probably damaging Het
Polr3d A T 14: 70,678,577 (GRCm39) M129K probably benign Het
Ppp1r42 T G 1: 10,069,732 (GRCm39) E110A probably damaging Het
Prdm2 G A 4: 142,859,471 (GRCm39) T1273M possibly damaging Het
Prelid2 A G 18: 42,045,514 (GRCm39) I132T possibly damaging Het
Sergef G A 7: 46,282,091 (GRCm39) probably null Het
Slc24a2 C A 4: 87,145,119 (GRCm39) probably null Het
Stxbp3 A T 3: 108,734,916 (GRCm39) D24E possibly damaging Het
Tas2r123 A T 6: 132,824,801 (GRCm39) M233L probably damaging Het
Thsd7a G A 6: 12,555,630 (GRCm39) H85Y possibly damaging Het
Tlr2 T A 3: 83,745,603 (GRCm39) E160V probably benign Het
Tmem171 A T 13: 98,828,678 (GRCm39) C157* probably null Het
Trpm3 T C 19: 22,903,392 (GRCm39) Y1051H probably damaging Het
Vmn2r28 A G 7: 5,491,408 (GRCm39) F280L probably benign Het
Zan T C 5: 137,436,782 (GRCm39) S2024G unknown Het
Zfhx2 A T 14: 55,301,539 (GRCm39) Y2148* probably null Het
Zscan4-ps1 T C 7: 10,799,906 (GRCm39) T328A 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
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
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
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'- TCTGCAAATTTGATAGTAGTGCGTG -3'
(R):5'- CGGAGTACGCTGTGTTCTTC -3'

Sequencing Primer
(F):5'- TGCGTGCACCACAATCTG -3'
(R):5'- CGCTGTGTTCTTCAAAATAAAAGCAC -3'
Posted On 2018-08-01