Incidental Mutation 'R4027:Ranbp17'
ID 313047
Institutional Source Beutler Lab
Gene Symbol Ranbp17
Ensembl Gene ENSMUSG00000040594
Gene Name RAN binding protein 17
Synonyms 4932704E15Rik
MMRRC Submission 040850-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4027 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 33161795-33463746 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 33450718 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 73 (R73Q)
Ref Sequence ENSEMBL: ENSMUSP00000099879 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037522] [ENSMUST00000102815] [ENSMUST00000129179] [ENSMUST00000147751]
AlphaFold Q99NF8
Predicted Effect probably benign
Transcript: ENSMUST00000037522
AA Change: R73Q

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000035840
Gene: ENSMUSG00000040594
AA Change: R73Q

DomainStartEndE-ValueType
IBN_N 30 95 3.24e-5 SMART
low complexity region 270 283 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000102815
AA Change: R73Q

PolyPhen 2 Score 0.666 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000099879
Gene: ENSMUSG00000040594
AA Change: R73Q

DomainStartEndE-ValueType
IBN_N 30 95 3.24e-5 SMART
low complexity region 270 283 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000129179
AA Change: R73Q

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000137898
Gene: ENSMUSG00000040594
AA Change: R73Q

DomainStartEndE-ValueType
IBN_N 30 95 3.24e-5 SMART
low complexity region 270 283 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000147751
AA Change: R68Q

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000118519
Gene: ENSMUSG00000040594
AA Change: R68Q

DomainStartEndE-ValueType
IBN_N 25 90 3.24e-5 SMART
Meta Mutation Damage Score 0.0634 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency 97% (60/62)
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-17 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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402F06Rik A G 2: 35,270,408 (GRCm39) F98L probably damaging Het
Adam26b T C 8: 43,973,409 (GRCm39) N531S probably benign Het
Ahdc1 T C 4: 132,791,476 (GRCm39) S906P possibly damaging Het
Ank A G 15: 27,544,343 (GRCm39) N35D probably damaging Het
Ano10 A G 9: 122,081,994 (GRCm39) probably benign Het
Atp4a T C 7: 30,424,377 (GRCm39) probably null Het
C030005K15Rik T C 10: 97,561,404 (GRCm39) Y109C unknown Het
Carmil1 T A 13: 24,251,206 (GRCm39) probably benign Het
Ccl2 A G 11: 81,927,885 (GRCm39) R110G probably benign Het
Cntnap2 C A 6: 46,833,062 (GRCm39) F758L probably benign Het
Cog6 A C 3: 52,909,950 (GRCm39) D267E possibly damaging Het
Cyp4f37 G T 17: 32,850,646 (GRCm39) E366D probably benign Het
Dcun1d4 A G 5: 73,691,980 (GRCm39) D89G probably damaging Het
Dpep1 T C 8: 123,920,892 (GRCm39) V24A probably benign Het
Eefsec T C 6: 88,353,232 (GRCm39) I48V probably benign Het
Elmo2 G A 2: 165,136,169 (GRCm39) Q195* probably null Het
Ephb3 A G 16: 21,040,447 (GRCm39) D561G probably damaging Het
Erich2 C A 2: 70,343,134 (GRCm39) probably benign Het
Gatm A G 2: 122,427,927 (GRCm39) V362A probably damaging Het
Gdf10 A G 14: 33,654,572 (GRCm39) M360V probably damaging Het
Gpr141 T C 13: 19,935,995 (GRCm39) N260S probably benign Het
Hectd1 T A 12: 51,849,219 (GRCm39) probably null Het
Insrr A G 3: 87,716,906 (GRCm39) E682G probably benign Het
Itgax A G 7: 127,740,438 (GRCm39) I742V possibly damaging Het
Kcnh1 T C 1: 191,959,007 (GRCm39) V187A probably benign Het
Kdm6b G T 11: 69,297,094 (GRCm39) S419R possibly damaging Het
Kmt2a A T 9: 44,747,990 (GRCm39) probably benign Het
Krt10 A G 11: 99,277,019 (GRCm39) probably benign Het
Lct G A 1: 128,212,918 (GRCm39) R1912C probably benign Het
Lefty1 T C 1: 180,765,346 (GRCm39) S305P probably benign Het
Mast3 A G 8: 71,240,552 (GRCm39) L279P probably damaging Het
Mfsd4b3-ps T C 10: 39,823,343 (GRCm39) T306A probably benign Het
Mgam G A 6: 40,731,836 (GRCm39) R1351Q probably damaging Het
Mknk1 T A 4: 115,721,758 (GRCm39) F101I probably damaging Het
Mlc1 T C 15: 88,850,697 (GRCm39) I154V probably benign Het
Myo5b T C 18: 74,892,311 (GRCm39) I1685T possibly damaging Het
Nacc2 T A 2: 25,950,348 (GRCm39) M463L probably benign Het
Nek11 A C 9: 105,121,589 (GRCm39) Y443* probably null Het
Nme4 T C 17: 26,313,196 (GRCm39) probably null Het
Nova1 A G 12: 46,863,801 (GRCm39) probably benign Het
Or52h9 A T 7: 104,202,530 (GRCm39) I135F possibly damaging Het
Parp10 A G 15: 76,125,354 (GRCm39) probably null Het
Pkd1l3 T A 8: 110,350,603 (GRCm39) S483T possibly damaging Het
Plce1 T C 19: 38,512,709 (GRCm39) S3P probably damaging Het
Pnldc1 T C 17: 13,109,666 (GRCm39) D400G probably benign Het
Polr2b G A 5: 77,496,252 (GRCm39) R1141H possibly damaging Het
Prmt6 A G 3: 110,157,257 (GRCm39) I344T probably damaging Het
Psmd2 G A 16: 20,481,955 (GRCm39) G896D probably damaging Het
Rcn1 G T 2: 105,229,395 (GRCm39) Y52* probably null Het
Reck T C 4: 43,922,931 (GRCm39) I402T probably damaging Het
Tecpr1 C A 5: 144,143,077 (GRCm39) A735S probably benign Het
Tshz1 T C 18: 84,032,954 (GRCm39) K485E possibly damaging Het
Ube4a G A 9: 44,861,198 (GRCm39) probably benign Het
Vldlr A G 19: 27,215,713 (GRCm39) T237A probably benign Het
Vmn1r74 C A 7: 11,580,898 (GRCm39) T66K probably damaging Het
Wdr49 C A 3: 75,230,972 (GRCm39) L563F probably benign Het
Zmym1 C T 4: 126,943,672 (GRCm39) V239I probably benign Het
Zmym5 T A 14: 57,035,268 (GRCm39) T267S probably benign Het
Other mutations in Ranbp17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00509:Ranbp17 APN 11 33,443,402 (GRCm39) missense probably benign 0.13
IGL00582:Ranbp17 APN 11 33,454,683 (GRCm39) missense probably damaging 0.99
IGL00698:Ranbp17 APN 11 33,391,910 (GRCm39) missense probably benign 0.00
IGL00789:Ranbp17 APN 11 33,193,249 (GRCm39) missense probably benign 0.27
IGL01304:Ranbp17 APN 11 33,216,147 (GRCm39) missense possibly damaging 0.91
IGL01936:Ranbp17 APN 11 33,437,689 (GRCm39) missense probably benign 0.00
IGL01937:Ranbp17 APN 11 33,278,520 (GRCm39) missense possibly damaging 0.73
IGL01945:Ranbp17 APN 11 33,278,520 (GRCm39) missense possibly damaging 0.73
IGL01993:Ranbp17 APN 11 33,450,770 (GRCm39) missense possibly damaging 0.48
IGL02588:Ranbp17 APN 11 33,167,361 (GRCm39) missense probably benign
IGL02870:Ranbp17 APN 11 33,193,262 (GRCm39) missense probably damaging 1.00
IGL03149:Ranbp17 APN 11 33,193,183 (GRCm39) missense possibly damaging 0.76
PIT4445001:Ranbp17 UTSW 11 33,431,020 (GRCm39) critical splice donor site probably null
PIT4480001:Ranbp17 UTSW 11 33,247,340 (GRCm39) critical splice donor site probably null
R0079:Ranbp17 UTSW 11 33,450,682 (GRCm39) missense probably damaging 1.00
R0349:Ranbp17 UTSW 11 33,450,689 (GRCm39) missense probably benign
R0395:Ranbp17 UTSW 11 33,424,896 (GRCm39) missense probably benign
R1456:Ranbp17 UTSW 11 33,216,310 (GRCm39) missense probably damaging 1.00
R1539:Ranbp17 UTSW 11 33,247,394 (GRCm39) missense probably damaging 0.99
R1542:Ranbp17 UTSW 11 33,214,672 (GRCm39) missense probably benign
R1770:Ranbp17 UTSW 11 33,167,301 (GRCm39) missense probably benign 0.31
R2216:Ranbp17 UTSW 11 33,431,125 (GRCm39) missense probably damaging 1.00
R2656:Ranbp17 UTSW 11 33,193,122 (GRCm39) missense probably benign
R2883:Ranbp17 UTSW 11 33,454,708 (GRCm39) missense probably damaging 1.00
R3498:Ranbp17 UTSW 11 33,169,203 (GRCm39) small deletion probably benign
R3499:Ranbp17 UTSW 11 33,169,203 (GRCm39) small deletion probably benign
R3721:Ranbp17 UTSW 11 33,169,203 (GRCm39) small deletion probably benign
R3788:Ranbp17 UTSW 11 33,169,203 (GRCm39) small deletion probably benign
R3790:Ranbp17 UTSW 11 33,169,203 (GRCm39) small deletion probably benign
R3914:Ranbp17 UTSW 11 33,429,189 (GRCm39) missense probably benign 0.02
R3915:Ranbp17 UTSW 11 33,429,189 (GRCm39) missense probably benign 0.02
R3949:Ranbp17 UTSW 11 33,429,189 (GRCm39) missense probably benign 0.02
R4021:Ranbp17 UTSW 11 33,429,189 (GRCm39) missense probably benign 0.02
R4022:Ranbp17 UTSW 11 33,429,189 (GRCm39) missense probably benign 0.02
R4421:Ranbp17 UTSW 11 33,425,056 (GRCm39) missense probably benign 0.01
R4462:Ranbp17 UTSW 11 33,167,421 (GRCm39) critical splice acceptor site probably null
R4659:Ranbp17 UTSW 11 33,216,288 (GRCm39) missense probably damaging 1.00
R4791:Ranbp17 UTSW 11 33,437,746 (GRCm39) missense probably benign 0.11
R4837:Ranbp17 UTSW 11 33,278,451 (GRCm39) missense probably damaging 1.00
R4914:Ranbp17 UTSW 11 33,163,425 (GRCm39) missense probably benign
R4939:Ranbp17 UTSW 11 33,169,223 (GRCm39) missense probably benign 0.31
R5119:Ranbp17 UTSW 11 33,354,181 (GRCm39) makesense probably null
R5171:Ranbp17 UTSW 11 33,167,419 (GRCm39) missense probably benign
R5182:Ranbp17 UTSW 11 33,169,287 (GRCm39) intron probably benign
R5288:Ranbp17 UTSW 11 33,169,241 (GRCm39) missense possibly damaging 0.75
R5384:Ranbp17 UTSW 11 33,169,241 (GRCm39) missense possibly damaging 0.75
R5385:Ranbp17 UTSW 11 33,169,241 (GRCm39) missense possibly damaging 0.75
R5398:Ranbp17 UTSW 11 33,424,998 (GRCm39) missense probably damaging 1.00
R6658:Ranbp17 UTSW 11 33,169,214 (GRCm39) nonsense probably null
R6701:Ranbp17 UTSW 11 33,425,066 (GRCm39) missense probably damaging 1.00
R6796:Ranbp17 UTSW 11 33,167,398 (GRCm39) missense probably benign
R6869:Ranbp17 UTSW 11 33,463,074 (GRCm39) start gained probably benign
R7096:Ranbp17 UTSW 11 33,424,896 (GRCm39) missense probably benign
R7156:Ranbp17 UTSW 11 33,247,420 (GRCm39) missense probably damaging 1.00
R7451:Ranbp17 UTSW 11 33,234,114 (GRCm39) splice site probably null
R7958:Ranbp17 UTSW 11 33,437,702 (GRCm39) missense probably damaging 1.00
R9348:Ranbp17 UTSW 11 33,429,232 (GRCm39) missense probably benign 0.01
R9529:Ranbp17 UTSW 11 33,424,826 (GRCm39) missense unknown
RF016:Ranbp17 UTSW 11 33,279,511 (GRCm39) missense probably damaging 0.99
X0013:Ranbp17 UTSW 11 33,239,562 (GRCm39) splice site probably null
X0024:Ranbp17 UTSW 11 33,163,404 (GRCm39) makesense probably null
Z1176:Ranbp17 UTSW 11 33,431,108 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCATCATCACTGCAGGAATAAGAC -3'
(R):5'- CCATGATCTTTTATGAGAGAGGAGTG -3'

Sequencing Primer
(F):5'- TCATCACTGCAGGAATAAGACTTAAC -3'
(R):5'- ATCTTTTATGAGAGAGGAGTGTGTGC -3'
Posted On 2015-04-30