Incidental Mutation 'R0094:Ranbp3'
ID 16285
Institutional Source Beutler Lab
Gene Symbol Ranbp3
Ensembl Gene ENSMUSG00000002372
Gene Name RAN binding protein 3
Synonyms 2610024N24Rik
MMRRC Submission 038380-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.953) question?
Stock # R0094 (G1)
Quality Score
Status Validated
Chromosome 17
Chromosomal Location 56980294-57018764 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 57016338 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000132817 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002445] [ENSMUST00000067931] [ENSMUST00000164907]
AlphaFold Q9CT10
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: 124,203,427 (GRCm39) probably benign Het
4930432E11Rik A G 7: 29,260,236 (GRCm39) noncoding transcript Het
4931429L15Rik T A 9: 46,218,184 (GRCm39) T185S possibly damaging Het
Ahnak T A 19: 8,991,257 (GRCm39) D4180E probably benign Het
Amotl1 A G 9: 14,486,683 (GRCm39) S441P probably benign Het
Ankrd12 A T 17: 66,277,171 (GRCm39) D2034E probably damaging Het
B3gnt2 T C 11: 22,786,655 (GRCm39) R178G probably damaging Het
Colgalt1 T C 8: 72,075,802 (GRCm39) V483A probably damaging Het
Ctsj A C 13: 61,151,519 (GRCm39) probably null Het
Dap3 T A 3: 88,834,335 (GRCm39) M294L probably benign Het
Ddias T C 7: 92,509,108 (GRCm39) N269S possibly damaging Het
Dsg2 A T 18: 20,724,910 (GRCm39) T439S probably benign Het
Eif2b1 A G 5: 124,709,829 (GRCm39) F250L probably benign Het
Emc1 T A 4: 139,087,796 (GRCm39) F100Y probably damaging Het
Hfm1 T A 5: 107,065,344 (GRCm39) M112L probably benign Het
Lipg T C 18: 75,078,917 (GRCm39) Y445C probably benign Het
Lrp1b T C 2: 41,172,042 (GRCm39) probably benign Het
Ltbp2 A G 12: 84,846,200 (GRCm39) Y897H probably damaging Het
Mfap5 G A 6: 122,502,951 (GRCm39) V54I probably damaging Het
Mvd C T 8: 123,166,442 (GRCm39) R65H probably benign Het
Mybpc2 A G 7: 44,166,328 (GRCm39) Y221H probably damaging Het
Nbeal1 T A 1: 60,344,468 (GRCm39) I2323N possibly damaging Het
Or14c40 A G 7: 86,313,502 (GRCm39) S211G probably benign Het
Otol1 G A 3: 69,926,016 (GRCm39) A64T probably benign Het
Pcdh8 G T 14: 80,005,588 (GRCm39) D933E probably damaging Het
Pkd1 A G 17: 24,800,250 (GRCm39) T3004A possibly damaging Het
Pkhd1 T A 1: 20,279,470 (GRCm39) R2949S probably damaging Het
Ptpro T C 6: 137,363,350 (GRCm39) Y495H probably benign Het
Rad54b T C 4: 11,599,681 (GRCm39) V72A possibly damaging Het
Rpa2 T C 4: 132,497,893 (GRCm39) S52P probably damaging Het
Serping1 T G 2: 84,603,620 (GRCm39) R140S probably benign Het
Slc34a2 T C 5: 53,221,310 (GRCm39) F252S probably benign Het
Spata45 A G 1: 190,772,059 (GRCm39) probably benign Het
Sptan1 T C 2: 29,896,635 (GRCm39) S1174P probably benign Het
Ss18l2 T C 9: 121,541,699 (GRCm39) L64P probably benign Het
Tmem81 A G 1: 132,435,787 (GRCm39) I198V probably benign Het
Trappc9 A T 15: 72,894,929 (GRCm38) probably benign Het
Ubr3 C T 2: 69,781,706 (GRCm39) T628I probably damaging Het
Zzef1 C T 11: 72,708,791 (GRCm39) T130I probably benign Het
Other mutations in Ranbp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00423:Ranbp3 APN 17 57,016,238 (GRCm39) missense probably damaging 1.00
IGL02801:Ranbp3 APN 17 57,017,766 (GRCm39) missense probably benign
IGL03004:Ranbp3 APN 17 57,014,207 (GRCm39) missense probably damaging 1.00
Waif UTSW 17 56,984,208 (GRCm39) splice site probably null
R0139:Ranbp3 UTSW 17 57,016,272 (GRCm39) missense possibly damaging 0.95
R0419:Ranbp3 UTSW 17 57,015,219 (GRCm39) missense possibly damaging 0.92
R0426:Ranbp3 UTSW 17 57,014,169 (GRCm39) missense probably benign
R0629:Ranbp3 UTSW 17 57,015,200 (GRCm39) missense possibly damaging 0.95
R0632:Ranbp3 UTSW 17 57,009,896 (GRCm39) splice site probably benign
R1495:Ranbp3 UTSW 17 57,012,527 (GRCm39) missense probably benign 0.03
R1525:Ranbp3 UTSW 17 57,017,865 (GRCm39) missense possibly damaging 0.52
R2044:Ranbp3 UTSW 17 56,980,367 (GRCm39) start gained probably benign
R2093:Ranbp3 UTSW 17 57,017,145 (GRCm39) missense probably damaging 1.00
R4649:Ranbp3 UTSW 17 57,003,640 (GRCm39) critical splice donor site probably null
R4780:Ranbp3 UTSW 17 56,980,346 (GRCm39) start gained probably benign
R5568:Ranbp3 UTSW 17 57,008,543 (GRCm39) critical splice donor site probably null
R5642:Ranbp3 UTSW 17 57,017,703 (GRCm39) missense probably benign 0.01
R5806:Ranbp3 UTSW 17 57,017,717 (GRCm39) missense probably benign 0.01
R5875:Ranbp3 UTSW 17 57,014,955 (GRCm39) critical splice donor site probably null
R6142:Ranbp3 UTSW 17 56,993,018 (GRCm39) missense probably benign 0.33
R6250:Ranbp3 UTSW 17 56,984,208 (GRCm39) splice site probably null
R6745:Ranbp3 UTSW 17 57,016,308 (GRCm39) missense probably benign 0.24
R7222:Ranbp3 UTSW 17 57,017,211 (GRCm39) missense probably damaging 1.00
R7571:Ranbp3 UTSW 17 57,014,923 (GRCm39) missense probably benign 0.01
R7718:Ranbp3 UTSW 17 57,003,718 (GRCm39) missense probably damaging 0.99
R7744:Ranbp3 UTSW 17 57,015,219 (GRCm39) missense possibly damaging 0.92
R8504:Ranbp3 UTSW 17 57,015,273 (GRCm39) missense probably damaging 0.98
R8746:Ranbp3 UTSW 17 57,009,826 (GRCm39) missense probably benign
R9133:Ranbp3 UTSW 17 57,003,791 (GRCm39) critical splice donor site probably null
Posted On 2013-01-20