Incidental Mutation 'IGL01458:Bloc1s6'
ID84899
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bloc1s6
Ensembl Gene ENSMUSG00000005804
Gene Namebiogenesis of lysosomal organelles complex-1, subunit 6, pallidin
SynonymsBLOC-1 subunit, Pldn, BLOC-1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.130) question?
Stock #IGL01458
Quality Score
Status
Chromosome2
Chromosomal Location122738503-122749475 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to A at 122744215 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000005954 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005954]
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 noncoding transcript Het
Akap12 A G 10: 4,354,060 E290G probably damaging Het
Akap6 T A 12: 52,886,818 C364* probably null Het
Akr1c18 A T 13: 4,137,144 Y198N probably damaging Het
Aurka T C 2: 172,368,979 probably benign Het
Clca1 C T 3: 145,007,778 M697I probably benign Het
Csn2 T C 5: 87,696,020 probably benign Het
Dsc1 T C 18: 20,099,138 E271G probably damaging Het
Evi5 G A 5: 107,815,647 A354V probably damaging Het
Fcer2a T A 8: 3,688,151 R137S probably benign Het
Fto A G 8: 91,441,716 T266A probably benign Het
Fzd4 G A 7: 89,404,735 V17I unknown Het
Gadd45b T C 10: 80,931,241 L105P probably damaging Het
Galntl6 T C 8: 58,427,709 S137G probably damaging Het
Gm2022 A T 12: 87,895,388 K7* probably null Het
Gm5771 T G 6: 41,396,687 D161E probably benign Het
Gpr135 T C 12: 72,069,668 M442V probably benign Het
Kcnq1 T A 7: 143,194,278 Y330* probably null Het
Kdm5b A G 1: 134,621,986 R1106G possibly damaging Het
Lrrc8e C T 8: 4,236,141 R789W probably damaging Het
Myo16 T C 8: 10,435,853 L644P probably damaging Het
Nbeal1 G T 1: 60,242,625 probably null Het
Nlrp4c T C 7: 6,100,784 C906R possibly damaging Het
Olfr1118 C T 2: 87,309,482 T251I probably damaging Het
Olfr344 T A 2: 36,568,742 L48H probably damaging Het
Olfr389 A T 11: 73,776,706 I207N probably benign Het
Ovgp1 A G 3: 105,974,991 N70D probably benign Het
Panx3 A T 9: 37,661,147 M369K probably damaging Het
Plet1 A G 9: 50,494,717 N52S probably benign Het
Psg18 A T 7: 18,354,816 M1K probably null Het
Ptprz1 A T 6: 22,972,844 D251V probably damaging Het
Serpinb6a A G 13: 33,930,081 Y88H possibly damaging Het
Siglecf G A 7: 43,355,138 R297Q possibly damaging Het
Tbx15 T C 3: 99,316,228 V244A probably damaging Het
Top2a A T 11: 99,011,030 L458Q probably damaging Het
Trim39 A G 17: 36,263,963 probably benign Het
Vps37c T C 19: 10,710,417 C81R probably damaging Het
Wdr62 A T 7: 30,241,762 S744T probably benign Het
Zyg11a G A 4: 108,204,902 T234I probably damaging Het
Other mutations in Bloc1s6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02867:Bloc1s6 APN 2 122742684 missense probably damaging 1.00
IGL02889:Bloc1s6 APN 2 122742684 missense probably damaging 1.00
IGL03352:Bloc1s6 APN 2 122742718 missense probably damaging 1.00
R0057:Bloc1s6 UTSW 2 122744221 splice site probably benign
R0057:Bloc1s6 UTSW 2 122744221 splice site probably benign
R0122:Bloc1s6 UTSW 2 122746043 splice site probably benign
R0656:Bloc1s6 UTSW 2 122742623 missense probably benign 0.01
R1485:Bloc1s6 UTSW 2 122746143 critical splice donor site probably null
R5657:Bloc1s6 UTSW 2 122738657 missense probably benign 0.04
R7292:Bloc1s6 UTSW 2 122742695 missense probably damaging 1.00
R8248:Bloc1s6 UTSW 2 122742645 nonsense probably null
Posted On2013-11-11