|Institutional Source||Beutler Lab|
|Gene Name||biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino|
|Synonyms||Cno, Blos4, 2610101N07Rik|
|Is this an essential gene?||Not available|
|Stock #||R7565 (G1)|
|Chromosomal Location||36747378-36748650 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 36748345 bp|
|Amino Acid Change||Methionine to Leucine at position 101 (M101L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000071840 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000071949]|
|Predicted Effect||probably benign
AA Change: M101L
PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
AA Change: M101L
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. A similar protein in mouse is a component of a protein complex termed biogenesis of lysosome-related organelles complex 1 (BLOC-1), and is a model for Hermansky-Pudlak syndrome. The encoded protein may play a role in intracellular vesicular trafficking. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant animals exhibit a very dilute coat and eye color due to a reduced number of melanosomes. 75% of homozygous mutant animals exhibit some form of posture or balance abnormality, with variable severity. Platelet dense bodies are markedly deficient leading to prolonged bleeding. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Bloc1s4||
(F):5'- TGATGGTATGCAGCAGCCTC -3'
(R):5'- ATCTCAGACCGTAACGCAATCG -3'
(F):5'- TATGCAGCAGCCTCCGGAAG -3'
(R):5'- AACCCTGTCTCGAGAGGTCTC -3'