Incidental Mutation 'IGL01478:Ranbp9'
ID 88523
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ranbp9
Ensembl Gene ENSMUSG00000038546
Gene Name RAN binding protein 9
Synonyms RanBPM, IBAP-1
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.954) question?
Stock # IGL01478
Quality Score
Status
Chromosome 13
Chromosomal Location 43402675-43481282 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 43414084 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 546 (T546I)
Ref Sequence ENSEMBL: ENSMUSP00000130636 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000144326] [ENSMUST00000222651]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000144326
AA Change: T546I

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000130636
Gene: ENSMUSG00000038546
AA Change: T546I

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 noncoding transcript
Transcript: ENSMUST00000220774
Predicted Effect probably benign
Transcript: ENSMUST00000221092
Predicted Effect probably benign
Transcript: ENSMUST00000222651
AA Change: T382I

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik A G 6: 91,934,609 T613A probably benign Het
Cdh16 G T 8: 104,614,488 probably benign Het
Epn2 A G 11: 61,523,086 S419P probably benign Het
Eral1 A T 11: 78,075,732 V234D probably damaging Het
Fhad1 T C 4: 141,951,638 K576E possibly damaging Het
Frmd4b T A 6: 97,328,293 D170V probably damaging Het
Gm4353 A G 7: 116,083,740 V202A possibly damaging Het
Ighmbp2 A G 19: 3,274,531 I245T probably benign Het
Igsf23 G A 7: 19,938,236 probably benign Het
Krt1 A G 15: 101,846,286 probably benign Het
Mapk8 A G 14: 33,383,900 V371A probably benign Het
Mtrf1 T G 14: 79,402,920 probably benign Het
Myzap A G 9: 71,515,067 probably null Het
Nsrp1 C T 11: 77,050,652 V73I probably benign Het
Olfr1089 A T 2: 86,733,329 Y94* probably null Het
Olfr344 T A 2: 36,568,742 L48H probably damaging Het
Olfr670 A G 7: 104,960,348 I128T probably damaging Het
Pex6 C T 17: 46,725,304 R976C probably benign Het
Rfx5 T C 3: 94,958,440 V350A possibly damaging Het
Rnf19b A G 4: 129,058,830 E187G probably damaging Het
Sbf1 A G 15: 89,299,743 V1217A probably damaging Het
Sfmbt1 T A 14: 30,811,521 D618E probably damaging Het
Sipa1l1 A G 12: 82,446,898 E1697G probably benign Het
Syk A G 13: 52,624,748 Y290C probably benign Het
Trim69 T C 2: 122,178,443 L328P probably damaging Het
Unc5c T A 3: 141,828,451 I911N probably damaging Het
Wdr5 T C 2: 27,533,832 V294A probably damaging Het
Other mutations in Ranbp9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01287:Ranbp9 APN 13 43480504 missense probably damaging 1.00
IGL01948:Ranbp9 APN 13 43422553 missense probably damaging 1.00
IGL02177:Ranbp9 APN 13 43419717 missense probably damaging 0.99
IGL02382:Ranbp9 APN 13 43436146 splice site probably null
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
R8856:Ranbp9 UTSW 13 43414030 missense probably damaging 1.00
R8914:Ranbp9 UTSW 13 43425084 missense probably benign 0.33
R9433:Ranbp9 UTSW 13 43422565 missense probably damaging 1.00
R9657:Ranbp9 UTSW 13 43403679 missense unknown
R9664:Ranbp9 UTSW 13 43425043 missense probably benign 0.00
X0024:Ranbp9 UTSW 13 43425085 missense possibly damaging 0.64
Posted On 2013-11-18