Incidental Mutation 'IGL01458:Bloc1s6'
ID 84899
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 # IGL01458
Quality Score
Status
Chromosome 2
Chromosomal Location 122580423-122591395 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to A at 122586135 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000005954 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005954]
AlphaFold Q9R0C0
Predicted Effect probably null
Transcript: ENSMUST00000005954
SMART Domains Protein: ENSMUSP00000005954
Gene: ENSMUSG00000005804

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: ENSMUST00000148460
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433N12Rik A T 9: 3,134,008 (GRCm39) noncoding transcript Het
Akap12 A G 10: 4,304,060 (GRCm39) E290G probably damaging Het
Akap6 T A 12: 52,933,601 (GRCm39) C364* probably null Het
Akr1c18 A T 13: 4,187,143 (GRCm39) Y198N probably damaging Het
Aurka T C 2: 172,210,899 (GRCm39) probably benign Het
Clca3a1 C T 3: 144,713,539 (GRCm39) M697I probably benign Het
Csn2 T C 5: 87,843,879 (GRCm39) probably benign Het
Dsc1 T C 18: 20,232,195 (GRCm39) E271G probably damaging Het
Eif1ad4 A T 12: 87,862,158 (GRCm39) K7* probably null Het
Evi5 G A 5: 107,963,513 (GRCm39) A354V probably damaging Het
Fcer2a T A 8: 3,738,151 (GRCm39) R137S probably benign Het
Fto A G 8: 92,168,344 (GRCm39) T266A probably benign Het
Fzd4 G A 7: 89,053,943 (GRCm39) V17I unknown Het
Gadd45b T C 10: 80,767,075 (GRCm39) L105P probably damaging Het
Galntl6 T C 8: 58,880,743 (GRCm39) S137G probably damaging Het
Gpr135 T C 12: 72,116,442 (GRCm39) M442V probably benign Het
Kcnq1 T A 7: 142,748,015 (GRCm39) Y330* probably null Het
Kdm5b A G 1: 134,549,724 (GRCm39) R1106G possibly damaging Het
Lrrc8e C T 8: 4,286,141 (GRCm39) R789W probably damaging Het
Myo16 T C 8: 10,485,853 (GRCm39) L644P probably damaging Het
Nbeal1 G T 1: 60,281,784 (GRCm39) probably null Het
Nlrp4c T C 7: 6,103,783 (GRCm39) C906R possibly damaging Het
Or10ag56 C T 2: 87,139,826 (GRCm39) T251I probably damaging Het
Or1e29 A T 11: 73,667,532 (GRCm39) I207N probably benign Het
Or1j15 T A 2: 36,458,754 (GRCm39) L48H probably damaging Het
Ovgp1 A G 3: 105,882,307 (GRCm39) N70D probably benign Het
Panx3 A T 9: 37,572,443 (GRCm39) M369K probably damaging Het
Plet1 A G 9: 50,406,017 (GRCm39) N52S probably benign Het
Prss1l T G 6: 41,373,621 (GRCm39) D161E probably benign Het
Psg18 A T 7: 18,088,741 (GRCm39) M1K probably null Het
Ptprz1 A T 6: 22,972,843 (GRCm39) D251V probably damaging Het
Serpinb6a A G 13: 34,114,064 (GRCm39) Y88H possibly damaging Het
Siglecf G A 7: 43,004,562 (GRCm39) R297Q possibly damaging Het
Tbx15 T C 3: 99,223,544 (GRCm39) V244A probably damaging Het
Top2a A T 11: 98,901,856 (GRCm39) L458Q probably damaging Het
Trim39 A G 17: 36,574,855 (GRCm39) probably benign Het
Vps37c T C 19: 10,687,781 (GRCm39) C81R probably damaging Het
Wdr62 A T 7: 29,941,187 (GRCm39) S744T probably benign Het
Zyg11a G A 4: 108,062,099 (GRCm39) T234I probably damaging Het
Other mutations in Bloc1s6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02867:Bloc1s6 APN 2 122,584,604 (GRCm39) missense probably damaging 1.00
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 2013-11-11