Incidental Mutation 'IGL03004:Ranbp3'
ID 407473
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ranbp3
Ensembl Gene ENSMUSG00000002372
Gene Name RAN binding protein 3
Synonyms 2610024N24Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.953) question?
Stock # IGL03004
Quality Score
Status
Chromosome 17
Chromosomal Location 56980294-57018764 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 57014207 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 246 (V246E)
Ref Sequence ENSEMBL: ENSMUSP00000002445 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002445]
AlphaFold Q9CT10
Predicted Effect probably damaging
Transcript: ENSMUST00000002445
AA Change: V246E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000002445
Gene: ENSMUSG00000002372
AA Change: V246E

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
Coding Region Coverage
Validation Efficiency
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atrx A T X: 104,876,115 (GRCm39) C78* probably null Het
Birc6 T A 17: 74,919,180 (GRCm39) N1999K probably benign Het
Bltp1 T A 3: 37,019,826 (GRCm39) probably benign Het
Cdc42bpg G A 19: 6,361,413 (GRCm39) R313Q probably benign Het
Clip3 A G 7: 29,991,789 (GRCm39) Y55C probably damaging Het
Ddit4l A G 3: 137,331,966 (GRCm39) N111D probably benign Het
Eprs1 T G 1: 185,114,030 (GRCm39) M326R probably damaging Het
F8 C T X: 74,255,658 (GRCm39) G2045D probably damaging Het
Fstl5 A G 3: 76,555,738 (GRCm39) probably benign Het
Gm10577 T C 4: 100,877,526 (GRCm39) probably benign Het
Heatr6 T C 11: 83,648,205 (GRCm39) S133P probably benign Het
Itpr3 T G 17: 27,316,952 (GRCm39) F736V possibly damaging Het
Klf8 T C X: 152,165,716 (GRCm39) L95P probably damaging Het
Lrrc40 G A 3: 157,747,302 (GRCm39) probably benign Het
Map3k12 A G 15: 102,412,631 (GRCm39) V247A possibly damaging Het
Obscn A G 11: 58,919,413 (GRCm39) Y6211H probably damaging Het
Or1j19 A G 2: 36,677,194 (GRCm39) Y219C probably damaging Het
Pip4k2b A G 11: 97,615,300 (GRCm39) Y187H probably damaging Het
Rabggta A G 14: 55,956,687 (GRCm39) probably benign Het
Rtf1 C A 2: 119,531,754 (GRCm39) probably benign Het
Sema3b G A 9: 107,480,114 (GRCm39) P208L possibly damaging Het
Smpd1 A G 7: 105,205,881 (GRCm39) D416G possibly damaging Het
Spam1 T C 6: 24,796,913 (GRCm39) V288A probably damaging Het
Stac A C 9: 111,431,608 (GRCm39) S248A probably benign Het
Tmem178b C A 6: 40,222,515 (GRCm39) R77S probably damaging Het
Vegfd T C X: 163,185,104 (GRCm39) L352P probably benign Het
Vmn1r176 A T 7: 23,534,702 (GRCm39) N150K probably damaging Het
Vmn1r230 T C 17: 21,067,772 (GRCm39) probably benign Het
Vsig10 A G 5: 117,463,140 (GRCm39) Y122C probably damaging Het
Xpo5 T A 17: 46,518,766 (GRCm39) V121E probably damaging Het
Zrsr2 T C X: 162,722,397 (GRCm39) Q285R 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
Waif UTSW 17 56,984,208 (GRCm39) splice site probably null
R0094:Ranbp3 UTSW 17 57,016,338 (GRCm39) unclassified probably benign
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 2016-08-02