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
Is this an essential gene? Probably essential (E-score: 0.950) question?
Stock # IGL03004
Quality Score
Status
Chromosome 17
Chromosomal Location 56673225-56711769 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 56707207 bp (GRCm38)
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
4932438A13Rik T A 3: 36,965,677 probably benign Het
Atrx A T X: 105,832,509 C78* probably null Het
Birc6 T A 17: 74,612,185 N1999K probably benign Het
Cdc42bpg G A 19: 6,311,383 R313Q probably benign Het
Clip3 A G 7: 30,292,364 Y55C probably damaging Het
Ddit4l A G 3: 137,626,205 N111D probably benign Het
Eprs T G 1: 185,381,833 M326R probably damaging Het
F8 C T X: 75,212,052 G2045D probably damaging Het
Fstl5 A G 3: 76,648,431 probably benign Het
Gm10577 T C 4: 101,020,329 probably benign Het
Heatr6 T C 11: 83,757,379 S133P probably benign Het
Itpr3 T G 17: 27,097,978 F736V possibly damaging Het
Klf8 T C X: 153,382,720 L95P probably damaging Het
Lrrc40 G A 3: 158,041,665 probably benign Het
Map3k12 A G 15: 102,504,196 V247A possibly damaging Het
Obscn A G 11: 59,028,587 Y6211H probably damaging Het
Olfr348 A G 2: 36,787,182 Y219C probably damaging Het
Pip4k2b A G 11: 97,724,474 Y187H probably damaging Het
Rabggta A G 14: 55,719,230 probably benign Het
Rtf1 C A 2: 119,701,273 probably benign Het
Sema3b G A 9: 107,602,915 P208L possibly damaging Het
Smpd1 A G 7: 105,556,674 D416G possibly damaging Het
Spam1 T C 6: 24,796,914 V288A probably damaging Het
Stac A C 9: 111,602,540 S248A probably benign Het
Tmem178b C A 6: 40,245,581 R77S probably damaging Het
Vegfd T C X: 164,402,108 L352P probably benign Het
Vmn1r176 A T 7: 23,835,277 N150K probably damaging Het
Vmn1r230 T C 17: 20,847,510 probably benign Het
Vsig10 A G 5: 117,325,075 Y122C probably damaging Het
Xpo5 T A 17: 46,207,840 V121E probably damaging Het
Zrsr2 T C X: 163,939,401 Q285R 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
Waif UTSW 17 56677208 splice site probably null
R0094:Ranbp3 UTSW 17 56709338 unclassified probably benign
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 splice site 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
R7744:Ranbp3 UTSW 17 56708219 missense possibly damaging 0.92
R8504:Ranbp3 UTSW 17 56708273 missense probably damaging 0.98
R8746:Ranbp3 UTSW 17 56702826 missense probably benign
R9133:Ranbp3 UTSW 17 56696791 critical splice donor site probably null
Posted On 2016-08-02