Incidental Mutation 'IGL00423:Ranbp3'
ID 332380
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: 0.958) question?
Stock # IGL00423
Quality Score
Chromosome 17
Chromosomal Location 56980294-57018764 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 57016238 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 336 (D336N)
Ref Sequence ENSEMBL: ENSMUSP00000002445 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002445] [ENSMUST00000067931] [ENSMUST00000164907]
AlphaFold Q9CT10
Predicted Effect probably damaging
Transcript: ENSMUST00000002445
AA Change: D336N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000002445
Gene: ENSMUSG00000002372
AA Change: D336N

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

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

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
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan A G 7: 78,747,572 (GRCm39) E781G probably benign Het
Acp7 T C 7: 28,314,122 (GRCm39) T358A possibly damaging Het
Adamtsl2 C A 2: 26,975,100 (GRCm39) T199K probably damaging Het
Ap4e1 T A 2: 126,870,209 (GRCm39) S179T probably damaging Het
BC048671 A G 6: 90,280,200 (GRCm39) T39A probably benign Het
Cfap20dc G A 14: 8,473,370 (GRCm38) P600S possibly damaging Het
Cnr1 G A 4: 33,944,116 (GRCm39) S168N probably damaging Het
Cp T C 3: 20,039,826 (GRCm39) V881A possibly damaging Het
Cyp4x1 T C 4: 114,979,145 (GRCm39) T151A probably benign Het
Drd2 T C 9: 49,307,058 (GRCm39) I48T probably damaging Het
Gemin5 A T 11: 58,054,643 (GRCm39) I253N probably damaging Het
Herc3 T A 6: 58,845,700 (GRCm39) I407K probably damaging Het
Ighmbp2 G T 19: 3,318,704 (GRCm39) H457Q probably benign Het
Mboat1 A G 13: 30,379,776 (GRCm39) probably benign Het
Myh2 T C 11: 67,088,171 (GRCm39) V1929A probably benign Het
Nucb2 T A 7: 116,121,066 (GRCm39) probably benign Het
Pcsk5 T C 19: 17,619,923 (GRCm39) N383S probably benign Het
Pde1a A G 2: 79,696,014 (GRCm39) L443P probably damaging Het
Prph2 A T 17: 47,230,704 (GRCm39) N199I probably damaging Het
Rab27b A G 18: 70,129,138 (GRCm39) probably null Het
Rangap1 T C 15: 81,606,194 (GRCm39) D49G probably benign Het
Rasa3 G A 8: 13,645,410 (GRCm39) probably benign Het
Serpina6 T A 12: 103,618,162 (GRCm39) N217I probably damaging Het
Sorbs2 A G 8: 46,252,743 (GRCm39) probably null Het
Spire1 A G 18: 67,662,085 (GRCm39) V116A probably damaging Het
Tdrd1 T C 19: 56,839,896 (GRCm39) V652A possibly damaging Het
Tmprss11g T C 5: 86,640,050 (GRCm39) E193G probably benign Het
Zfp451 A T 1: 33,816,660 (GRCm39) V213D probably benign Het
Other mutations in Ranbp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2015-08-05