|Institutional Source||Beutler Lab|
|Gene Name||biogenesis of lysosomal organelles complex-1, subunit 6, pallidin|
|Synonyms||BLOC-1 subunit, Pldn, BLOC-1|
|Is this an essential gene?||Probably non essential (E-score: 0.130)|
|Stock #||R8248 (G1)|
|Chromosomal Location||122738503-122749475 bp(+) (GRCm38)|
|Type of Mutation||nonsense|
|DNA Base Change (assembly)||A to T at 122742645 bp|
|Amino Acid Change||Arginine to Stop codon at position 47 (R47*)|
|Ref Sequence||ENSEMBL: ENSMUSP00000005954 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000005954]|
|Predicted Effect||probably null
AA Change: R47*
AA Change: R47*
|Coding Region Coverage||
|Validation Efficiency||100% (60/60)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene may play a role in intracellular vesicle trafficking. It interacts with Syntaxin 13 which mediates intracellular membrane fusion. Mutations in this gene cause symptoms associated with Hermansky-Pudlak syndrome-9. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on the X chromosome. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mutations at this locus result in a coat color abnormality, abnormal platelet morphology, age related lung abnormalities, decreased ssurvival, and impaired motor coordination. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Bloc1s6||
(F):5'- GGTACACATTTAAAGAAGCGACTG -3'
(R):5'- CCCAGACATGTTCGATGACTC -3'
(F):5'- CGACTGTATAGTTAGGAGAGAGTTTG -3'
(R):5'- TCGATGACTCAATGTTCCAGGAGAC -3'