Incidental Mutation 'IGL02801:Ranbp3'
ID360203
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ranbp3
Ensembl Gene ENSMUSG00000002372
Gene NameRAN binding protein 3
Synonyms2610024N24Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.938) question?
Stock #IGL02801
Quality Score
Status
Chromosome17
Chromosomal Location56673225-56711769 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 56710766 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 474 (V474A)
Ref Sequence ENSEMBL: ENSMUSP00000002445 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002445] [ENSMUST00000067931] [ENSMUST00000164907]
Predicted Effect probably benign
Transcript: ENSMUST00000002445
AA Change: V474A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000002445
Gene: ENSMUSG00000002372
AA Change: V474A

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
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap5 A T 12: 76,328,995 K400N probably benign Het
Aox2 A T 1: 58,354,177 I1193F probably damaging Het
Arhgef16 A T 4: 154,291,507 L10Q probably damaging Het
Arl10 T C 13: 54,575,883 V106A probably benign Het
Bmi1 T C 2: 18,681,881 Y24H probably damaging Het
Cd163 T A 6: 124,320,529 I878K probably benign Het
Col12a1 A G 9: 79,608,414 probably null Het
Csmd2 T C 4: 128,552,075 probably null Het
Dcp2 G T 18: 44,417,711 M417I probably damaging Het
Ddx11 T A 17: 66,148,033 C662S probably benign Het
Dhx29 G A 13: 112,964,646 C1241Y probably damaging Het
Dnajc6 C T 4: 101,597,813 P37L probably benign Het
Dqx1 A G 6: 83,060,495 probably null Het
Dzip1 T A 14: 118,885,655 K643* probably null Het
Ecel1 A G 1: 87,152,003 S463P probably damaging Het
Eml5 A G 12: 98,817,845 V1361A possibly damaging Het
Fads2 C A 19: 10,082,645 A222S possibly damaging Het
Fancd2 A G 6: 113,593,317 N1410D probably benign Het
Fbxw16 A G 9: 109,441,076 F199S possibly damaging Het
Frem2 A G 3: 53,652,175 V1637A possibly damaging Het
Gabrg2 A G 11: 41,912,393 S442P probably damaging Het
Gprin3 T C 6: 59,354,981 T114A possibly damaging Het
Hoxd8 A G 2: 74,706,568 E27G probably damaging Het
Isl2 A G 9: 55,545,532 probably null Het
Lamc2 T A 1: 153,136,783 H715L probably benign Het
Lrif1 T C 3: 106,734,614 V102A possibly damaging Het
Lrrc39 A G 3: 116,578,346 N254S possibly damaging Het
Med13l T C 5: 118,745,113 W1346R probably damaging Het
Melk T C 4: 44,360,930 I570T probably damaging Het
Mlkl G A 8: 111,316,432 T361M probably benign Het
Myo1f T A 17: 33,578,137 M94K probably damaging Het
Naip1 A G 13: 100,444,368 C124R probably damaging Het
Nek1 G A 8: 61,121,061 probably null Het
Nrn1 C A 13: 36,730,106 probably null Het
Pde1c G T 6: 56,173,666 N289K probably damaging Het
Pfas G A 11: 68,988,277 probably benign Het
Pms2 A T 5: 143,925,835 I587F probably benign Het
Ppargc1b T C 18: 61,307,684 E721G possibly damaging Het
Ppp2r1b A G 9: 50,878,827 I435V probably benign Het
Psip1 C T 4: 83,458,120 S494N probably benign Het
Rnf220 C T 4: 117,273,251 C259Y probably damaging Het
Sdr16c6 T C 4: 4,076,603 I99V probably benign Het
Slc36a1 A T 11: 55,226,053 I303F probably benign Het
Slc4a1 C T 11: 102,359,146 probably null Het
Syncrip A T 9: 88,479,809 D84E probably damaging Het
Tbc1d9b T C 11: 50,152,830 Y593H probably damaging Het
Tenm2 G T 11: 36,047,030 Y1605* probably null Het
Tmem135 T A 7: 89,154,125 H280L probably benign Het
Tmem229a T A 6: 24,955,122 Q211L probably benign Het
Txlna T C 4: 129,640,408 D5G probably damaging Het
Vmn2r57 T C 7: 41,448,632 I4V probably benign Het
Wdfy3 A G 5: 101,907,587 L1539S probably damaging Het
Zdhhc14 T G 17: 5,726,819 probably null Het
Other mutations in Ranbp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00423:Ranbp3 APN 17 56709238 missense probably damaging 1.00
IGL03004:Ranbp3 APN 17 56707207 missense probably damaging 1.00
Waif UTSW 17 56677208 intron 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 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 On2015-12-18