|Institutional Source||Beutler Lab|
|Gene Name||RAN binding protein 10|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R3607 (G1)|
|Chromosomal Location||105768308-105827350 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 105776035 bp|
|Amino Acid Change||Serine to Proline at position 300 (S300P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000040045 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000041400]|
|Predicted Effect||probably benign
AA Change: S300P
PolyPhen 2 Score 0.395 (Sensitivity: 0.90; Specificity: 0.89)
AA Change: S300P
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||98% (48/49)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] RAN is a small GTPase involved in the assembly of microtubules to form mitotic spindles. The protein encoded by this gene is a cytoplasmic guanine nucleotide exchange factor (GEF) that binds beta-tubulin and has GEF activity toward RAN. The encoded protein plays a role in the formation of noncentrosomal microtubules. In addition, this protein may be involved in the regulation of D(1) receptor signaling by protein kinase C delta and protein kinase C gamma. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit slight defects in erythrocyte number and volume, decreased platelet aggregattion and increased bleeding time associated with impaired platelet dense granule release. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ranbp10||
(F):5'- AGTTGGTCTCCAGGATAGTACAG -3'
(R):5'- TAGCCACTCCTATGACCTGG -3'
(F):5'- TCTCCAGGATAGTACAGATATGGTG -3'
(R):5'- GAGGGAAGTTCTTATTTTCTTTACCC -3'