|Institutional Source||Beutler Lab|
|Gene Name||RAN binding protein 10|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6528 (G1)|
|Chromosomal Location||105768308-105827350 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 105779956 bp|
|Amino Acid Change||Asparagine to Serine at position 244 (N244S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000040045 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000041400]|
|Predicted Effect||probably damaging
AA Change: N244S
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: N244S
|Meta Mutation Damage Score||0.9722|
|Coding Region Coverage||
|Validation Efficiency||98% (55/56)|
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'- AGCAGGTCTACAGTACCATGGG -3'
(R):5'- TCCATGTGGGGCCTTACTTG -3'
(F):5'- TCTACAGTACCATGGGGCCTG -3'
(R):5'- GACTAAATGATTGGTCCCTACTGC -3'