Incidental Mutation 'R5657:Bloc1s6'
Institutional Source Beutler Lab
Gene Symbol Bloc1s6
Ensembl Gene ENSMUSG00000005804
Gene Namebiogenesis of lysosomal organelles complex-1, subunit 6, pallidin
SynonymsBLOC-1 subunit, Pldn, BLOC-1
MMRRC Submission 043171-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.173) question?
Stock #R5657 (G1)
Quality Score158
Status Not validated
Chromosomal Location122738503-122749475 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 122738657 bp
Amino Acid Change Valine to Aspartic acid at position 12 (V12D)
Ref Sequence ENSEMBL: ENSMUSP00000005954 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005954]
Predicted Effect probably benign
Transcript: ENSMUST00000005954
AA Change: V12D

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000005954
Gene: ENSMUSG00000005804
AA Change: V12D

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
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl5 A G 5: 30,894,046 Y533C probably damaging Het
Ahnak T C 19: 9,014,615 V4421A probably damaging Het
Bach1 A G 16: 87,719,285 K238R probably benign Het
Clca3b C A 3: 144,827,383 L629F probably benign Het
Clhc1 A G 11: 29,561,431 I292V probably benign Het
Col27a1 T C 4: 63,225,310 S412P probably damaging Het
Col6a4 A G 9: 106,072,198 I746T probably damaging Het
Cracr2a G A 6: 127,604,007 A49T probably damaging Het
Cyb561d1 A G 3: 108,200,692 I28T possibly damaging Het
Dnah11 T A 12: 117,883,617 M4264L probably damaging Het
Dnajc13 A G 9: 104,228,537 L412S probably damaging Het
Dpf3 T C 12: 83,325,011 N150S probably damaging Het
Epha2 T C 4: 141,323,494 C854R probably damaging Het
Fat2 G T 11: 55,310,681 Y522* probably null Het
Foxm1 A T 6: 128,373,388 S551C possibly damaging Het
Galnt12 T C 4: 47,104,150 V136A possibly damaging Het
Gm6647 T G 5: 13,768,821 noncoding transcript Het
Grin2b T A 6: 135,733,087 I1154F possibly damaging Het
Hmcn1 A G 1: 150,658,562 V2987A probably benign Het
Jade2 A G 11: 51,816,987 S800P probably damaging Het
Naip6 C A 13: 100,300,401 S538I probably benign Het
Olfr393 T C 11: 73,847,540 N195S probably damaging Het
Plekha6 G C 1: 133,272,307 R208P possibly damaging Het
Plod1 T C 4: 147,918,781 E529G possibly damaging Het
Plppr2 T C 9: 21,947,615 C343R probably damaging Het
Prpf38a T C 4: 108,568,424 D219G probably damaging Het
Ptpra G A 2: 130,504,284 E122K probably benign Het
Rabl2 T C 15: 89,588,213 M38V probably benign Het
Reep1 A G 6: 71,761,374 M39V possibly damaging Het
Rsf1 GC GCGGCGGCGTC 7: 97,579,934 probably benign Het
Slc26a10 T C 10: 127,174,964 probably benign Het
Sun2 C A 15: 79,727,949 E510* probably null Het
Tanc1 A G 2: 59,834,707 probably null Het
Ticam1 TCACACA TCACA 17: 56,270,629 probably null Het
Tor1aip1 G T 1: 156,007,488 H205N probably damaging Het
Trpc6 C T 9: 8,609,807 T92I probably benign Het
Vmn2r100 T A 17: 19,504,916 F36I probably benign Het
Zfp787 T C 7: 6,133,054 Y66C probably damaging Het
Other mutations in Bloc1s6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01458:Bloc1s6 APN 2 122744215 critical splice donor site probably null
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
livid UTSW 2 122742645 nonsense probably null
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
R7292:Bloc1s6 UTSW 2 122742695 missense probably damaging 1.00
R8248:Bloc1s6 UTSW 2 122742645 nonsense probably null
R8728:Bloc1s6 UTSW 2 122746106 missense possibly damaging 0.77
Predicted Primers PCR Primer

Sequencing Primer
Posted On2016-11-09