Incidental Mutation 'IGL02382:Ranbp9'
ID291428
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ranbp9
Ensembl Gene ENSMUSG00000038546
Gene NameRAN binding protein 9
SynonymsRanBPM, IBAP-1
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.951) question?
Stock #IGL02382
Quality Score
Status
Chromosome13
Chromosomal Location43402675-43481282 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 43436146 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152620 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000144326] [ENSMUST00000222023] [ENSMUST00000222239] [ENSMUST00000222651]
Predicted Effect probably null
Transcript: ENSMUST00000144326
SMART Domains Protein: ENSMUSP00000130636
Gene: ENSMUSG00000038546

DomainStartEndE-ValueType
low complexity region 2 114 N/A INTRINSIC
SPRY 194 315 1.66e-43 SMART
LisH 347 379 6.82e-5 SMART
CTLH 385 442 9.78e-15 SMART
low complexity region 455 478 N/A INTRINSIC
CRA 596 698 1.6e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000220500
Predicted Effect probably null
Transcript: ENSMUST00000222023
Predicted Effect probably benign
Transcript: ENSMUST00000222239
Predicted Effect probably null
Transcript: ENSMUST00000222651
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 that binds RAN, a small GTP binding protein belonging to the RAS superfamily that is essential for the translocation of RNA and proteins through the nuclear pore complex. The protein encoded by this gene has also been shown to interact with several other proteins, including met proto-oncogene, homeodomain interacting protein kinase 2, androgen receptor, and cyclin-dependent kinase 11. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation display partial neonatal lethality. Survivors display infertility with impaired spermatogenesis and oogenesis, azoospermia and premature ovarian failure. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aim2 A G 1: 173,459,749 probably null Het
Aoc2 T C 11: 101,326,672 L527P probably damaging Het
Arhgef15 C A 11: 68,954,030 R247L probably damaging Het
Armcx2 T C X: 134,805,667 T406A probably benign Het
Armcx5 T C X: 135,746,828 F551S probably damaging Het
Ccrl2 T C 9: 111,055,879 K184E probably benign Het
Cenpe A G 3: 135,247,386 I1534V probably benign Het
Cflar T A 1: 58,752,681 I381K probably benign Het
Crb1 T A 1: 139,237,614 N924I probably damaging Het
Crebbp A G 16: 4,108,070 V729A probably damaging Het
Dab2 T A 15: 6,436,987 V615D possibly damaging Het
Edrf1 T C 7: 133,650,615 probably benign Het
Ep400 G A 5: 110,701,728 T1409I unknown Het
Gm14406 C A 2: 177,569,195 probably benign Het
Kptn T A 7: 16,124,020 S258T probably benign Het
Mbnl1 G T 3: 60,625,142 E291* probably null Het
Mcm4 A T 16: 15,624,738 L843Q probably damaging Het
Mgrn1 A G 16: 4,922,618 N274D probably damaging Het
Olfr26 G A 9: 38,855,068 G2D probably benign Het
Olfr532 T A 7: 140,419,603 T57S possibly damaging Het
Phactr4 A T 4: 132,370,841 V335E probably damaging Het
Ptgr2 T C 12: 84,313,948 S331P probably damaging Het
Setd5 A G 6: 113,143,640 T937A probably benign Het
Slc27a4 C T 2: 29,809,843 R265C probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Tenm3 A G 8: 48,235,476 Y2359H probably damaging Het
Tnip3 T C 6: 65,614,795 probably null Het
Zfc3h1 C T 10: 115,416,876 Q1365* probably null Het
Other mutations in Ranbp9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01287:Ranbp9 APN 13 43480504 missense probably damaging 1.00
IGL01478:Ranbp9 APN 13 43414084 missense probably benign 0.31
IGL01948:Ranbp9 APN 13 43422553 missense probably damaging 1.00
IGL02177:Ranbp9 APN 13 43419717 missense probably damaging 0.99
R0183:Ranbp9 UTSW 13 43425123 missense probably damaging 1.00
R0401:Ranbp9 UTSW 13 43422658 missense probably damaging 1.00
R0771:Ranbp9 UTSW 13 43461773 missense possibly damaging 0.92
R1551:Ranbp9 UTSW 13 43425117 missense probably benign 0.15
R1644:Ranbp9 UTSW 13 43412539 missense probably damaging 1.00
R1892:Ranbp9 UTSW 13 43416457 missense possibly damaging 0.87
R2247:Ranbp9 UTSW 13 43412425 missense probably damaging 1.00
R4097:Ranbp9 UTSW 13 43421257 missense probably damaging 0.97
R4794:Ranbp9 UTSW 13 43414076 missense probably damaging 0.99
R4908:Ranbp9 UTSW 13 43421257 missense possibly damaging 0.81
R4996:Ranbp9 UTSW 13 43425094 nonsense probably null
R5024:Ranbp9 UTSW 13 43434855 missense probably damaging 0.99
R5422:Ranbp9 UTSW 13 43419626 missense probably benign 0.01
R7069:Ranbp9 UTSW 13 43419622 missense probably benign 0.24
R7115:Ranbp9 UTSW 13 43406671 missense probably benign 0.04
R7298:Ranbp9 UTSW 13 43480460 missense probably benign 0.10
R7382:Ranbp9 UTSW 13 43425114 missense probably damaging 0.99
R7826:Ranbp9 UTSW 13 43419621 missense possibly damaging 0.46
X0024:Ranbp9 UTSW 13 43425085 missense possibly damaging 0.64
Posted On2015-04-16