Incidental Mutation 'IGL02137:Bloc1s1'
ID 281388
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bloc1s1
Ensembl Gene ENSMUSG00000090247
Gene Name biogenesis of lysosomal organelles complex-1, subunit 1
Synonyms Gcn5l1, BLOS1
Accession Numbers
Essential gene? Not available question?
Stock # IGL02137
Quality Score
Status
Chromosome 10
Chromosomal Location 128755783-128759393 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 128758517 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000117408 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026405] [ENSMUST00000026406] [ENSMUST00000131271] [ENSMUST00000135161] [ENSMUST00000137747] [ENSMUST00000153731] [ENSMUST00000145616] [ENSMUST00000149961]
AlphaFold O55102
Predicted Effect probably benign
Transcript: ENSMUST00000026405
SMART Domains Protein: ENSMUSP00000026405
Gene: ENSMUSG00000090247

DomainStartEndE-ValueType
Pfam:GCN5L1 5 125 3.1e-56 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000026406
SMART Domains Protein: ENSMUSP00000026406
Gene: ENSMUSG00000025350

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:adh_short 29 194 3.6e-23 PFAM
Pfam:adh_short_C2 35 230 6.6e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131271
SMART Domains Protein: ENSMUSP00000114321
Gene: ENSMUSG00000090247

DomainStartEndE-ValueType
Pfam:GCN5L1 4 121 1.7e-51 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000135161
SMART Domains Protein: ENSMUSP00000115182
Gene: ENSMUSG00000025350

DomainStartEndE-ValueType
transmembrane domain 59 78 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000137747
SMART Domains Protein: ENSMUSP00000116558
Gene: ENSMUSG00000025350

DomainStartEndE-ValueType
PDB:2JAP|D 1 80 6e-11 PDB
SCOP:d1hu4a_ 1 151 1e-28 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141320
Predicted Effect probably benign
Transcript: ENSMUST00000153731
SMART Domains Protein: ENSMUSP00000117408
Gene: ENSMUSG00000090247

DomainStartEndE-ValueType
Pfam:GCN5L1 5 92 1.6e-38 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153935
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143628
Predicted Effect probably benign
Transcript: ENSMUST00000145616
SMART Domains Protein: ENSMUSP00000123358
Gene: ENSMUSG00000025350

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:adh_short 29 175 1.7e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000149961
SMART Domains Protein: ENSMUSP00000123183
Gene: ENSMUSG00000025350

DomainStartEndE-ValueType
Pfam:adh_short 2 124 4e-17 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] BLOC1S1 is a component of the ubiquitously expressed BLOC1 multisubunit protein complex. BLOC1 is required for normal biogenesis of specialized organelles of the endosomal-lysosomal system, such as melanosomes and platelet dense granules (Starcevic and Dell'Angelica, 2004 [PubMed 15102850]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygous inactivation of this gene leads to embryonic lethality. Mouse embryonic fibroblasts show alterations in autophagy, mitochondrial physiology, and vesicle-mediated transport. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930595M18Rik T C X: 80,501,262 (GRCm39) D116G probably benign Het
Acp2 G T 2: 91,034,028 (GRCm39) G66V probably damaging Het
Adam32 C T 8: 25,362,610 (GRCm39) G605D probably damaging Het
Adam4 T C 12: 81,467,877 (GRCm39) D248G possibly damaging Het
Adamts15 C A 9: 30,821,956 (GRCm39) G494W probably damaging Het
Arfgef1 A T 1: 10,283,338 (GRCm39) N190K probably damaging Het
Bach2 C T 4: 32,501,621 (GRCm39) probably benign Het
Casz1 G T 4: 149,017,925 (GRCm39) A405S possibly damaging Het
Cplx4 T C 18: 66,090,125 (GRCm39) D98G probably benign Het
Dync2h1 T C 9: 7,134,349 (GRCm39) N1553D probably benign Het
Erich5 G A 15: 34,470,900 (GRCm39) C43Y probably damaging Het
Exosc10 A C 4: 148,645,590 (GRCm39) R123S probably damaging Het
Hoatz T C 9: 50,997,408 (GRCm39) probably benign Het
Inpp5f T C 7: 128,296,853 (GRCm39) V377A probably damaging Het
Lrp1b T C 2: 40,620,700 (GRCm39) probably benign Het
Mrps17 G A 5: 129,793,847 (GRCm39) V14M probably benign Het
Mtrr G A 13: 68,716,920 (GRCm39) S431F possibly damaging Het
Myo5a T C 9: 75,068,817 (GRCm39) probably null Het
Nsfl1c T A 2: 151,351,509 (GRCm39) I291N probably damaging Het
Ntsr1 T A 2: 180,180,628 (GRCm39) probably null Het
Or4n4 T C 14: 50,519,135 (GRCm39) T192A probably benign Het
Park7 T C 4: 150,988,288 (GRCm39) I102M probably benign Het
Pik3c2a T A 7: 115,950,039 (GRCm39) Q1326L probably benign Het
Rapgef3 T C 15: 97,648,025 (GRCm39) D693G probably benign Het
Rep15 G A 6: 146,934,845 (GRCm39) R228H probably benign Het
Slc25a1 A G 16: 17,745,234 (GRCm39) V100A probably benign Het
Slc9a4 T C 1: 40,640,059 (GRCm39) F284L possibly damaging Het
Sox10 G T 15: 79,043,393 (GRCm39) D52E probably benign Het
St3gal5 C A 6: 72,105,266 (GRCm39) T6N probably benign Het
Tbc1d22a A G 15: 86,183,870 (GRCm39) D243G probably benign Het
Tll1 T C 8: 64,469,132 (GRCm39) Y997C possibly damaging Het
Tmem8b A T 4: 43,689,434 (GRCm39) H276L probably benign Het
Tnpo3 T C 6: 29,609,450 (GRCm39) Y12C probably damaging Het
Tns3 A T 11: 8,442,578 (GRCm39) M595K possibly damaging Het
Trav18 T A 14: 54,069,192 (GRCm39) M78K probably benign Het
Uba7 A G 9: 107,856,952 (GRCm39) probably benign Het
Vmn1r167 A T 7: 23,204,864 (GRCm39) S51T probably damaging Het
Vmn1r83 A T 7: 12,055,761 (GRCm39) Y99N probably damaging Het
Wdr38 A T 2: 38,888,424 (GRCm39) N7I probably damaging Het
Other mutations in Bloc1s1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4702:Bloc1s1 UTSW 10 128,759,267 (GRCm39) missense probably damaging 1.00
R5375:Bloc1s1 UTSW 10 128,759,826 (GRCm39) unclassified probably benign
R5987:Bloc1s1 UTSW 10 128,759,255 (GRCm39) missense probably damaging 1.00
R7108:Bloc1s1 UTSW 10 128,758,592 (GRCm39) missense possibly damaging 0.63
Posted On 2015-04-16