|Institutional Source||Beutler Lab|
|Gene Name||RAN binding protein 9|
|Is this an essential gene?||Probably essential (E-score: 0.950)|
|Stock #||R4794 (G1)|
|Chromosomal Location||43402675-43481282 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 43414076 bp (GRCm38)|
|Amino Acid Change||Tyrosine to Histidine at position 549 (Y549H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000130636 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000144326] [ENSMUST00000222651]|
|AlphaFold||no structure available at present|
AA Change: Y549H
PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
AA Change: Y549H
AA Change: Y385H
PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|Meta Mutation Damage Score||0.0820|
|Coding Region Coverage||
|Validation Efficiency||97% (75/77)|
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||
|Other mutations in Ranbp9||
(F):5'- ATGCTTAGCTGTGAATCAGTCCAAG -3'
(R):5'- TCCTTCATCTCCAGGAGTGC -3'
(F):5'- GCTGTGAATCAGTCCAAGTAAAAAC -3'
(R):5'- CATCTCCAGGAGTGCAAATTTG -3'