Incidental Mutation 'R0094:Ranbp3'
ID16285
Institutional Source Beutler Lab
Gene Symbol Ranbp3
Ensembl Gene ENSMUSG00000002372
Gene NameRAN binding protein 3
Synonyms2610024N24Rik
MMRRC Submission 038380-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.938) question?
Stock #R0094 (G1)
Quality Score
Status Validated
Chromosome17
Chromosomal Location56673225-56711769 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) A to G at 56709338 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000132817 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002445] [ENSMUST00000067931] [ENSMUST00000164907]
Predicted Effect probably benign
Transcript: ENSMUST00000002445
SMART Domains Protein: ENSMUSP00000002445
Gene: ENSMUSG00000002372

DomainStartEndE-ValueType
low complexity region 275 287 N/A INTRINSIC
RanBD 305 432 1.7e-12 SMART
low complexity region 439 454 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000067931
SMART Domains Protein: ENSMUSP00000064120
Gene: ENSMUSG00000054723

DomainStartEndE-ValueType
coiled coil region 7 45 N/A INTRINSIC
low complexity region 112 132 N/A INTRINSIC
low complexity region 140 150 N/A INTRINSIC
low complexity region 159 166 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000164907
SMART Domains Protein: ENSMUSP00000132817
Gene: ENSMUSG00000054723

DomainStartEndE-ValueType
low complexity region 20 40 N/A INTRINSIC
low complexity region 48 58 N/A INTRINSIC
low complexity region 67 74 N/A INTRINSIC
Coding Region Coverage
  • 1x: 84.5%
  • 3x: 75.9%
  • 10x: 43.5%
  • 20x: 12.9%
Validation Efficiency 86% (51/59)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with a RanBD1 domain that is found in both the nucleus and cytoplasm. This protein plays a role in nuclear export as part of a heteromeric complex. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik T C 3: 124,409,778 probably benign Het
4930432E11Rik A G 7: 29,560,811 noncoding transcript Het
4931429L15Rik T A 9: 46,306,886 T185S possibly damaging Het
Ahnak T A 19: 9,013,893 D4180E probably benign Het
Amotl1 A G 9: 14,575,387 S441P probably benign Het
Ankrd12 A T 17: 65,970,176 D2034E probably damaging Het
B3gnt2 T C 11: 22,836,655 R178G probably damaging Het
Colgalt1 T C 8: 71,623,158 V483A probably damaging Het
Ctsj A C 13: 61,003,705 probably null Het
Dap3 T A 3: 88,927,028 M294L probably benign Het
Ddias T C 7: 92,859,900 N269S possibly damaging Het
Dsg2 A T 18: 20,591,853 T439S probably benign Het
Eif2b1 A G 5: 124,571,766 F250L probably benign Het
Emc1 T A 4: 139,360,485 F100Y probably damaging Het
Hfm1 T A 5: 106,917,478 M112L probably benign Het
Lipg T C 18: 74,945,846 Y445C probably benign Het
Lrp1b T C 2: 41,282,030 probably benign Het
Ltbp2 A G 12: 84,799,426 Y897H probably damaging Het
Mfap5 G A 6: 122,525,992 V54I probably damaging Het
Mvd C T 8: 122,439,703 R65H probably benign Het
Mybpc2 A G 7: 44,516,904 Y221H probably damaging Het
Nbeal1 T A 1: 60,305,309 I2323N possibly damaging Het
Olfr293 A G 7: 86,664,294 S211G probably benign Het
Otol1 G A 3: 70,018,683 A64T probably benign Het
Pcdh8 G T 14: 79,768,148 D933E probably damaging Het
Pkd1 A G 17: 24,581,276 T3004A possibly damaging Het
Pkhd1 T A 1: 20,209,246 R2949S probably damaging Het
Ptpro T C 6: 137,386,352 Y495H probably benign Het
Rad54b T C 4: 11,599,681 V72A possibly damaging Het
Rpa2 T C 4: 132,770,582 S52P probably damaging Het
Serping1 T G 2: 84,773,276 R140S probably benign Het
Slc34a2 T C 5: 53,063,968 F252S probably benign Het
Spata45 A G 1: 191,039,862 probably benign Het
Sptan1 T C 2: 30,006,623 S1174P probably benign Het
Ss18l2 T C 9: 121,712,633 L64P probably benign Het
Tmem81 A G 1: 132,508,049 I198V probably benign Het
Trappc9 A T 15: 72,894,929 probably benign Het
Ubr3 C T 2: 69,951,362 T628I probably damaging Het
Zzef1 C T 11: 72,817,965 T130I probably benign Het
Other mutations in Ranbp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00423:Ranbp3 APN 17 56709238 missense probably damaging 1.00
IGL02801:Ranbp3 APN 17 56710766 missense probably benign
IGL03004:Ranbp3 APN 17 56707207 missense probably damaging 1.00
Waif UTSW 17 56677208 intron probably null
R0139:Ranbp3 UTSW 17 56709272 missense possibly damaging 0.95
R0419:Ranbp3 UTSW 17 56708219 missense possibly damaging 0.92
R0426:Ranbp3 UTSW 17 56707169 missense probably benign
R0629:Ranbp3 UTSW 17 56708200 missense possibly damaging 0.95
R0632:Ranbp3 UTSW 17 56702896 splice site probably benign
R1495:Ranbp3 UTSW 17 56705527 missense probably benign 0.03
R1525:Ranbp3 UTSW 17 56710865 missense possibly damaging 0.52
R2044:Ranbp3 UTSW 17 56673367 start gained probably benign
R2093:Ranbp3 UTSW 17 56710145 missense probably damaging 1.00
R4649:Ranbp3 UTSW 17 56696640 critical splice donor site probably null
R4780:Ranbp3 UTSW 17 56673346 start gained probably benign
R5568:Ranbp3 UTSW 17 56701543 critical splice donor site probably null
R5642:Ranbp3 UTSW 17 56710703 missense probably benign 0.01
R5806:Ranbp3 UTSW 17 56710717 missense probably benign 0.01
R5875:Ranbp3 UTSW 17 56707955 critical splice donor site probably null
R6142:Ranbp3 UTSW 17 56686018 missense probably benign 0.33
R6250:Ranbp3 UTSW 17 56677208 intron probably null
R6745:Ranbp3 UTSW 17 56709308 missense probably benign 0.24
R7222:Ranbp3 UTSW 17 56710211 missense probably damaging 1.00
R7571:Ranbp3 UTSW 17 56707923 missense probably benign 0.01
R7718:Ranbp3 UTSW 17 56696718 missense probably damaging 0.99
Posted On2013-01-20