Incidental Mutation 'R8353:Bloc1s3'
ID 660534
Institutional Source Beutler Lab
Gene Symbol Bloc1s3
Ensembl Gene ENSMUSG00000057667
Gene Name biogenesis of lysosomal organelles complex-1, subunit 3
Synonyms BLOS3, rp
MMRRC Submission 067805-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.593) question?
Stock # R8353 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 19239708-19242295 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 19241324 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 68 (T68K)
Ref Sequence ENSEMBL: ENSMUSP00000076624 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002112] [ENSMUST00000077408] [ENSMUST00000108455] [ENSMUST00000136873] [ENSMUST00000147114]
AlphaFold Q5U5M8
Predicted Effect probably benign
Transcript: ENSMUST00000002112
SMART Domains Protein: ENSMUSP00000002112
Gene: ENSMUSG00000002043

DomainStartEndE-ValueType
Pfam:TRAPP 6 159 1.3e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000077408
AA Change: T68K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000076624
Gene: ENSMUSG00000057667
AA Change: T68K

DomainStartEndE-ValueType
Pfam:BLOC1S3 10 180 2.7e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108455
SMART Domains Protein: ENSMUSP00000104095
Gene: ENSMUSG00000002043

DomainStartEndE-ValueType
Pfam:TRAPP 7 157 8.4e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000136873
Predicted Effect probably benign
Transcript: ENSMUST00000147114
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 98% (61/62)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is a component of the BLOC1 multi-subunit protein complex. This complex is necessary for the biogenesis of specialized organelles of the endosomal-lysosomal system, including platelet dense granules and melanosomes. Mutations in this gene cause Hermansky-Pudlak syndrome 8, a disease characterized by lysosomal storage defects, bleeding due to platelet storage pool deficiency, and oculocutaneous albinism. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes have a hypopigmented coat color and show phenotypic similarity to human Hermansky-Pudlak Syndrome. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abr T C 11: 76,310,659 (GRCm39) T752A probably damaging Het
Adar A G 3: 89,657,569 (GRCm39) T508A possibly damaging Het
Atxn3 T A 12: 101,912,159 (GRCm39) K85I probably benign Het
Atxn7l1 G T 12: 33,197,882 (GRCm39) W50L probably damaging Het
Bahcc1 T C 11: 120,165,251 (GRCm39) V894A probably damaging Het
Bmerb1 T A 16: 13,855,877 (GRCm39) probably null Het
Brd10 T C 19: 29,731,242 (GRCm39) H590R possibly damaging Het
C130073F10Rik C T 4: 101,747,881 (GRCm39) probably null Het
Cd55b T C 1: 130,341,870 (GRCm39) I256V probably benign Het
Celsr3 T A 9: 108,703,734 (GRCm39) D72E probably benign Het
Cep41 T C 6: 30,658,891 (GRCm39) D152G probably benign Het
Cip2a C T 16: 48,821,436 (GRCm39) Q181* probably null Het
Cpne8 C A 15: 90,425,496 (GRCm39) K285N possibly damaging Het
Csmd3 A T 15: 47,813,349 (GRCm39) I1061K probably damaging Het
Cspg4 A T 9: 56,805,953 (GRCm39) N2255Y probably damaging Het
Cym T A 3: 107,129,025 (GRCm39) probably benign Het
Cyp2d9 T C 15: 82,336,720 (GRCm39) V23A probably damaging Het
Dnah1 A T 14: 31,005,159 (GRCm39) I2365K probably benign Het
Dock5 C T 14: 68,054,957 (GRCm39) probably null Het
Dop1a A T 9: 86,403,639 (GRCm39) H1613L probably damaging Het
Dusp5 T C 19: 53,518,113 (GRCm39) V122A possibly damaging Het
Emc6 A G 11: 73,067,399 (GRCm39) L44P probably damaging Het
Fbxl6 G T 15: 76,422,678 (GRCm39) T80K probably benign Het
Frrs1 T A 3: 116,692,822 (GRCm39) M32K possibly damaging Het
Gfod1 A G 13: 43,354,366 (GRCm39) V203A possibly damaging Het
Gjc2 G A 11: 59,067,840 (GRCm39) A214V unknown Het
Gkn2 T C 6: 87,355,135 (GRCm39) Y115H probably damaging Het
Gpatch1 A C 7: 34,976,704 (GRCm39) probably benign Het
Hemgn G T 4: 46,403,935 (GRCm39) P20Q possibly damaging Het
Herc1 G T 9: 66,415,571 (GRCm39) V4849L possibly damaging Het
Hmcn2 A T 2: 31,275,353 (GRCm39) probably null Het
Htt C A 5: 35,034,499 (GRCm39) T1990N possibly damaging Het
Jrk C T 15: 74,578,474 (GRCm39) W270* probably null Het
Katnb1 A G 8: 95,822,072 (GRCm39) D266G probably damaging Het
Klhl42 A G 6: 147,009,421 (GRCm39) K420R probably damaging Het
Lamb1 C A 12: 31,356,998 (GRCm39) T1035K probably damaging Het
Laptm5 T C 4: 130,656,079 (GRCm39) probably null Het
Lilra5 T C 7: 4,240,971 (GRCm39) S22P probably benign Het
Mn1 A G 5: 111,568,505 (GRCm39) N825S possibly damaging Het
Mup17 C T 4: 61,510,419 (GRCm39) probably null Het
Ncapd3 T A 9: 26,983,100 (GRCm39) D949E probably benign Het
Ncoa7 T C 10: 30,570,155 (GRCm39) E230G probably damaging Het
Nxnl1 A G 8: 72,015,512 (GRCm39) V132A probably damaging Het
Oard1 A G 17: 48,723,788 (GRCm39) I145V probably benign Het
Pabpc4 T G 4: 123,189,846 (GRCm39) L555R probably benign Het
Ppp1r11 G T 17: 37,260,866 (GRCm39) S21R possibly damaging Het
Prr36 T C 8: 4,263,831 (GRCm39) probably benign Het
Serpina1a T A 12: 103,822,038 (GRCm39) D298V probably benign Het
Sqle A T 15: 59,196,314 (GRCm39) H369L possibly damaging Het
Stambp T C 6: 83,538,881 (GRCm39) E173G probably damaging Het
Syne1 T C 10: 5,300,983 (GRCm39) N915S probably damaging Het
Tjap1 C A 17: 46,593,530 (GRCm39) probably benign Het
Tmem62 A C 2: 120,814,817 (GRCm39) K30T probably damaging Het
Tmtc1 T C 6: 148,327,346 (GRCm39) T56A probably benign Het
Trav6-4 A T 14: 53,691,946 (GRCm39) M18L probably benign Het
Trim69 T C 2: 121,998,490 (GRCm39) I154T possibly damaging Het
Uggt1 T C 1: 36,209,377 (GRCm39) probably null Het
Usp48 T A 4: 137,350,693 (GRCm39) M60K probably benign Het
Usp7 A G 16: 8,513,735 (GRCm39) S753P probably benign Het
Vmn2r27 A C 6: 124,169,404 (GRCm39) N575K probably damaging Het
Wdfy4 A C 14: 32,695,581 (GRCm39) D2672E probably benign Het
Zdhhc17 G A 10: 110,845,803 (GRCm39) P30L probably benign Het
Zmym4 T A 4: 126,800,905 (GRCm39) Y565F possibly damaging Het
Other mutations in Bloc1s3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1709:Bloc1s3 UTSW 7 19,241,453 (GRCm39) missense possibly damaging 0.85
R1951:Bloc1s3 UTSW 7 19,241,483 (GRCm39) missense possibly damaging 0.51
R7686:Bloc1s3 UTSW 7 19,241,531 (GRCm39) unclassified probably benign
R9605:Bloc1s3 UTSW 7 19,241,457 (GRCm39) missense possibly damaging 0.86
R9780:Bloc1s3 UTSW 7 19,241,408 (GRCm39) missense possibly damaging 0.71
Predicted Primers PCR Primer
(F):5'- ACACAGAGTGACAGCCTAGG -3'
(R):5'- TACACGAGGAAACTGAGGCC -3'

Sequencing Primer
(F):5'- TCGTATGTCCGGCAGCAAG -3'
(R):5'- TCCGTGCCATGGAGTCATC -3'
Posted On 2021-01-18