Incidental Mutation 'IGL02867:Bloc1s6'
ID 362368
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bloc1s6
Ensembl Gene ENSMUSG00000005804
Gene Name biogenesis of lysosomal organelles complex-1, subunit 6, pallidin
Synonyms BLOC-1, BLOC-1 subunit, Pldn
Accession Numbers
Essential gene? Probably non essential (E-score: 0.109) question?
Stock # IGL02867
Quality Score
Status
Chromosome 2
Chromosomal Location 122580423-122591395 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 122584604 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 60 (Y60H)
Ref Sequence ENSEMBL: ENSMUSP00000005954 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005954]
AlphaFold Q9R0C0
Predicted Effect probably damaging
Transcript: ENSMUST00000005954
AA Change: Y60H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000005954
Gene: ENSMUSG00000005804
AA Change: Y60H

DomainStartEndE-ValueType
Pfam:Snapin_Pallidin 50 140 2.5e-25 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127595
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129690
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145037
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146449
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148460
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150154
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf2 T A 5: 24,776,149 (GRCm39) Y310F probably benign Het
Adarb1 C T 10: 77,149,375 (GRCm39) V371I probably benign Het
Antxr2 G T 5: 98,125,509 (GRCm39) H249Q probably benign Het
Arel1 A T 12: 84,981,097 (GRCm39) N303K probably benign Het
Ccdc125 A T 13: 100,820,790 (GRCm39) probably benign Het
Cxcl16 A T 11: 70,349,892 (GRCm39) Y45N possibly damaging Het
Dnajb3 T A 1: 88,133,249 (GRCm39) Q51L probably benign Het
Ear10 A G 14: 44,160,726 (GRCm39) F34L probably damaging Het
Fgf11 A G 11: 69,690,498 (GRCm39) S100P possibly damaging Het
Fpgs G A 2: 32,575,891 (GRCm39) probably benign Het
Fyb1 A T 15: 6,609,527 (GRCm39) Q33H probably damaging Het
Ints3 G T 3: 90,300,143 (GRCm39) H925N probably damaging Het
Krt16 T C 11: 100,138,402 (GRCm39) K249E probably damaging Het
Lrp2 A T 2: 69,382,794 (GRCm39) S30R possibly damaging Het
Naa35 T C 13: 59,756,668 (GRCm39) probably benign Het
Or11g27 A G 14: 50,770,970 (GRCm39) I34V probably benign Het
Or1e22 A G 11: 73,376,817 (GRCm39) Y278H probably damaging Het
Or8g2b A G 9: 39,751,533 (GRCm39) M268V probably benign Het
Osbpl6 A G 2: 76,426,214 (GRCm39) probably benign Het
Pramel6 A T 2: 87,340,736 (GRCm39) Q356L probably damaging Het
Prima1 A G 12: 103,163,575 (GRCm39) V132A probably benign Het
Psme1 A G 14: 55,817,383 (GRCm39) probably benign Het
Rdh11 A G 12: 79,235,828 (GRCm39) V40A possibly damaging Het
Rin1 C T 19: 5,103,198 (GRCm39) R485C probably damaging Het
Rnf40 C A 7: 127,190,601 (GRCm39) S255* probably null Het
Spata24 C A 18: 35,789,805 (GRCm39) R194L probably benign Het
Spata31h1 C T 10: 82,119,654 (GRCm39) S482N probably damaging Het
Tas1r1 A T 4: 152,112,735 (GRCm39) S773T probably damaging Het
Trdv5 G T 14: 54,386,429 (GRCm39) probably benign Het
Trpc3 A C 3: 36,694,850 (GRCm39) D701E probably benign Het
Vim A G 2: 13,585,491 (GRCm39) R424G probably damaging Het
Vmn1r216 A C 13: 23,283,649 (GRCm39) T111P probably damaging Het
Zbtb26 A C 2: 37,326,261 (GRCm39) N247K probably benign Het
Zfp629 T G 7: 127,209,203 (GRCm39) probably benign Het
Other mutations in Bloc1s6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01458:Bloc1s6 APN 2 122,586,135 (GRCm39) critical splice donor site probably null
IGL02889:Bloc1s6 APN 2 122,584,604 (GRCm39) missense probably damaging 1.00
IGL03352:Bloc1s6 APN 2 122,584,638 (GRCm39) missense probably damaging 1.00
livid UTSW 2 122,584,565 (GRCm39) nonsense probably null
R0057:Bloc1s6 UTSW 2 122,586,141 (GRCm39) splice site probably benign
R0057:Bloc1s6 UTSW 2 122,586,141 (GRCm39) splice site probably benign
R0122:Bloc1s6 UTSW 2 122,587,963 (GRCm39) splice site probably benign
R0656:Bloc1s6 UTSW 2 122,584,543 (GRCm39) missense probably benign 0.01
R1485:Bloc1s6 UTSW 2 122,588,063 (GRCm39) critical splice donor site probably null
R5657:Bloc1s6 UTSW 2 122,580,577 (GRCm39) missense probably benign 0.04
R7292:Bloc1s6 UTSW 2 122,584,615 (GRCm39) missense probably damaging 1.00
R8248:Bloc1s6 UTSW 2 122,584,565 (GRCm39) nonsense probably null
R8728:Bloc1s6 UTSW 2 122,588,026 (GRCm39) missense possibly damaging 0.77
R9117:Bloc1s6 UTSW 2 122,588,534 (GRCm39) missense probably damaging 1.00
R9159:Bloc1s6 UTSW 2 122,580,548 (GRCm39) missense probably damaging 0.99
Posted On 2015-12-18