Incidental Mutation 'R6052:Xpo7'
ID 484185
Institutional Source Beutler Lab
Gene Symbol Xpo7
Ensembl Gene ENSMUSG00000022100
Gene Name exportin 7
Synonyms 4930506C02Rik, Ranbp16
MMRRC Submission 044220-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.230) question?
Stock # R6052 (G1)
Quality Score 210.009
Status Validated
Chromosome 14
Chromosomal Location 70899566-71004075 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 70921159 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 603 (Y603C)
Ref Sequence ENSEMBL: ENSMUSP00000154350 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022696] [ENSMUST00000167242] [ENSMUST00000226448] [ENSMUST00000228346]
AlphaFold Q9EPK7
Predicted Effect probably benign
Transcript: ENSMUST00000022696
AA Change: Y602C

PolyPhen 2 Score 0.416 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000022696
Gene: ENSMUSG00000022100
AA Change: Y602C

DomainStartEndE-ValueType
IBN_N 30 96 3.52e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000167242
AA Change: Y603C

PolyPhen 2 Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000129504
Gene: ENSMUSG00000022100
AA Change: Y603C

DomainStartEndE-ValueType
IBN_N 30 96 3.52e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000226448
AA Change: Y602C

PolyPhen 2 Score 0.416 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226607
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227550
Predicted Effect possibly damaging
Transcript: ENSMUST00000228346
AA Change: Y603C

PolyPhen 2 Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)
Meta Mutation Damage Score 0.1285 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.7%
Validation Efficiency 96% (80/83)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A G 17: 24,537,165 (GRCm39) F473L probably benign Het
Ankrd17 T C 5: 90,401,691 (GRCm39) I1449V probably benign Het
Aox4 T A 1: 58,293,477 (GRCm39) L943* probably null Het
Arap1 G A 7: 101,053,240 (GRCm39) V1257M probably damaging Het
B3gnt9 T C 8: 105,981,230 (GRCm39) S53G probably benign Het
Baiap3 A T 17: 25,467,444 (GRCm39) probably benign Het
Canx T C 11: 50,187,946 (GRCm39) D554G possibly damaging Het
Cbfa2t2 T C 2: 154,352,501 (GRCm39) V165A probably damaging Het
Ccdc17 C T 4: 116,457,145 (GRCm39) probably null Het
Cdcp1 A G 9: 123,014,396 (GRCm39) I126T probably benign Het
Cdk13 A T 13: 17,895,800 (GRCm39) D1036E probably damaging Het
Cfap157 A G 2: 32,669,863 (GRCm39) L240P probably damaging Het
Clec18a C A 8: 111,805,448 (GRCm39) E218* probably null Het
Col3a1 T C 1: 45,384,173 (GRCm39) probably benign Het
Dennd4a A G 9: 64,794,227 (GRCm39) E682G probably damaging Het
Dnah14 T C 1: 181,494,052 (GRCm39) V1736A possibly damaging Het
Dpep2 T A 8: 106,717,270 (GRCm39) D162V possibly damaging Het
Drd3 C A 16: 43,641,646 (GRCm39) P321T probably benign Het
Egfr A G 11: 16,861,554 (GRCm39) H1111R probably benign Het
Entpd1 T C 19: 40,708,928 (GRCm39) S58P probably damaging Het
Epha3 C A 16: 63,423,967 (GRCm39) V541L possibly damaging Het
Eri3 T A 4: 117,421,825 (GRCm39) D34E probably damaging Het
Eya1 T C 1: 14,353,374 (GRCm39) D58G probably damaging Het
Fat3 T A 9: 15,833,975 (GRCm39) S26C probably null Het
Fgl1 T C 8: 41,653,548 (GRCm39) D115G probably damaging Het
Fitm2 T C 2: 163,312,036 (GRCm39) Y59C probably damaging Het
Fras1 T A 5: 96,912,725 (GRCm39) I3343N probably damaging Het
Gba2 C A 4: 43,568,330 (GRCm39) C679F probably damaging Het
Glis2 G A 16: 4,431,603 (GRCm39) probably benign Het
Gm5150 T A 3: 16,044,917 (GRCm39) I103F probably damaging Het
Hhipl2 T C 1: 183,204,965 (GRCm39) S313P possibly damaging Het
Hmgcs1 A G 13: 120,166,995 (GRCm39) D474G probably benign Het
Homer3 C T 8: 70,744,076 (GRCm39) Q267* probably null Het
Hsd17b8 A G 17: 34,246,429 (GRCm39) L118P probably damaging Het
Igkv8-28 C T 6: 70,120,673 (GRCm39) G90D probably damaging Het
Kalrn T A 16: 34,181,255 (GRCm39) I128F probably damaging Het
Krt4 A G 15: 101,831,194 (GRCm39) probably null Het
Lamb2 T A 9: 108,364,811 (GRCm39) C1188* probably null Het
Lsr A T 7: 30,658,042 (GRCm39) M355K probably damaging Het
Map3k11 T G 19: 5,747,430 (GRCm39) D555E probably benign Het
Myocd A G 11: 65,087,082 (GRCm39) Y282H probably damaging Het
Nae1 T C 8: 105,261,176 (GRCm39) I7M probably benign Het
Nprl3 G T 11: 32,205,453 (GRCm39) H102N possibly damaging Het
Nup62 T A 7: 44,478,464 (GRCm39) F160I possibly damaging Het
Or10w1 C A 19: 13,631,871 (GRCm39) P26Q possibly damaging Het
Or2d3c A T 7: 106,525,896 (GRCm39) F257I probably benign Het
Or2r2 T A 6: 42,463,588 (GRCm39) T180S possibly damaging Het
Or5p76 A G 7: 108,122,945 (GRCm39) S71P probably benign Het
Or6c35 C A 10: 129,169,071 (GRCm39) T107K possibly damaging Het
Osbpl10 T C 9: 114,896,383 (GRCm39) probably null Het
Pcdh9 C T 14: 94,123,282 (GRCm39) V963I probably benign Het
Phf12 A G 11: 77,909,044 (GRCm39) R375G probably benign Het
Piezo1 G A 8: 123,233,008 (GRCm39) T108M probably damaging Het
Plxnc1 T A 10: 94,779,635 (GRCm39) Q269L probably benign Het
Pomgnt1 T A 4: 116,008,799 (GRCm39) N11K possibly damaging Het
Pramel22 T A 4: 143,382,222 (GRCm39) D158V probably damaging Het
Prkd1 A T 12: 50,413,083 (GRCm39) probably null Het
Prpf40a T C 2: 53,049,293 (GRCm39) T190A probably benign Het
Prrc2b A C 2: 32,102,297 (GRCm39) H790P possibly damaging Het
Rest T G 5: 77,429,027 (GRCm39) V482G probably benign Het
Ros1 T A 10: 52,039,999 (GRCm39) I322L probably benign Het
Rpl18 G A 7: 45,369,554 (GRCm39) probably benign Het
Rsad2 G A 12: 26,500,577 (GRCm39) H237Y probably benign Het
Sbf2 A G 7: 110,040,741 (GRCm39) L362S probably damaging Het
Sgsm3 A G 15: 80,893,464 (GRCm39) T409A probably benign Het
Slc16a14 T C 1: 84,890,430 (GRCm39) T292A possibly damaging Het
Spg11 T G 2: 121,927,837 (GRCm39) K649T probably damaging Het
Srprb T A 9: 103,067,415 (GRCm39) I268F possibly damaging Het
Tap2 G A 17: 34,433,683 (GRCm39) G566S probably damaging Het
Tecpr2 T C 12: 110,885,325 (GRCm39) V168A possibly damaging Het
Tln1 G C 4: 43,555,052 (GRCm39) F259L probably damaging Het
Tmem181a T A 17: 6,330,890 (GRCm39) L50H probably damaging Het
Tshz1 A G 18: 84,032,194 (GRCm39) I738T probably damaging Het
Tspan12 T C 6: 21,772,637 (GRCm39) E304G probably benign Het
Urb1 C T 16: 90,559,271 (GRCm39) G1671S probably damaging Het
Vmn2r2 T C 3: 64,024,782 (GRCm39) S600G possibly damaging Het
Wnt3 C A 11: 103,699,000 (GRCm39) Y35* probably null Het
Zfp457 G A 13: 67,442,015 (GRCm39) H91Y probably damaging Het
Zfp664 T A 5: 124,963,250 (GRCm39) C215S unknown Het
Zfp882 G A 8: 72,668,349 (GRCm39) G392D 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
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'- AGATTCTGTGTACATATTGCCTTGG -3'
(R):5'- GGCCAGTGTAGCTTTGGAAC -3'

Sequencing Primer
(F):5'- ACATATTGCCTTGGGTGCCAG -3'
(R):5'- AGCCAAAGTCTCTCTTGC -3'
Posted On 2017-07-14