Incidental Mutation 'R7292:Bloc1s6'
ID 566472
Institutional Source Beutler Lab
Gene Symbol Bloc1s6
Ensembl Gene ENSMUSG00000005804
Gene Name biogenesis of lysosomal organelles complex-1, subunit 6, pallidin
Synonyms BLOC-1, BLOC-1 subunit, Pldn
MMRRC Submission 045397-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.109) question?
Stock # R7292 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 122580423-122591395 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 122584615 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 63 (D63E)
Ref Sequence ENSEMBL: ENSMUSP00000005954 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005954]
AlphaFold Q9R0C0
Predicted Effect probably damaging
Transcript: ENSMUST00000005954
AA Change: D63E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000005954
Gene: ENSMUSG00000005804
AA Change: D63E

DomainStartEndE-ValueType
Pfam:Snapin_Pallidin 50 140 2.5e-25 PFAM
Meta Mutation Damage Score 0.1267 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (66/66)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik T A 17: 9,215,861 (GRCm39) C322* probably null Het
4930553M12Rik G A 4: 88,786,568 (GRCm39) R17C unknown Het
Abcc8 G A 7: 45,784,950 (GRCm39) T726I probably benign Het
Adamts18 T C 8: 114,436,277 (GRCm39) T981A probably benign Het
Adgrb3 A G 1: 25,570,957 (GRCm39) C507R probably damaging Het
Cdc25b C T 2: 131,033,093 (GRCm39) R135W probably damaging Het
Cdca2 G T 14: 67,915,326 (GRCm39) Y644* probably null Het
Ceacam10 G T 7: 24,477,775 (GRCm39) G97C probably damaging Het
Cenpf G A 1: 189,382,891 (GRCm39) L2668F probably damaging Het
Cog4 A G 8: 111,608,460 (GRCm39) D774G probably damaging Het
Col11a2 G A 17: 34,270,482 (GRCm39) G511E unknown Het
Col19a1 T A 1: 24,569,089 (GRCm39) I220F unknown Het
Cubn G T 2: 13,429,550 (GRCm39) T1317K probably damaging Het
Dnaaf5 T C 5: 139,136,072 (GRCm39) L24P unknown Het
Eif4a3l2 G A 6: 116,528,438 (GRCm39) R105Q probably damaging Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Foxn4 C A 5: 114,396,716 (GRCm39) E256* probably null Het
Gm5930 A G 14: 44,574,014 (GRCm39) S108P probably damaging Het
Gnl3 A G 14: 30,735,189 (GRCm39) S468P probably benign Het
Gzmb A T 14: 56,499,576 (GRCm39) S11T probably benign Het
Hmcn1 T C 1: 150,608,880 (GRCm39) probably null Het
Ifi206 A G 1: 173,301,428 (GRCm39) L750P unknown Het
Ifi213 T A 1: 173,422,691 (GRCm39) E58V probably damaging Het
Igkv4-78 A T 6: 69,036,752 (GRCm39) Y94N probably damaging Het
Igsf9 G T 1: 172,319,324 (GRCm39) probably null Het
Itpr2 G T 6: 146,060,447 (GRCm39) L2490M possibly damaging Het
Kdm2b A G 5: 123,018,854 (GRCm39) F862S probably damaging Het
Kif19b A G 5: 140,457,425 (GRCm39) D398G probably benign Het
Meis1 A G 11: 18,961,351 (GRCm39) I174T probably damaging Het
Micu3 A G 8: 40,835,166 (GRCm39) Q507R probably benign Het
Mpp4 C T 1: 59,182,969 (GRCm39) E313K possibly damaging Het
Nfatc4 G A 14: 56,062,512 (GRCm39) E7K probably damaging Het
Or7g16 A T 9: 18,727,486 (GRCm39) Y35N probably damaging Het
Or9s18 T A 13: 65,300,656 (GRCm39) V206D possibly damaging Het
Osbpl5 G A 7: 143,255,015 (GRCm39) P470S probably damaging Het
Pak6 A G 2: 118,524,072 (GRCm39) D409G possibly damaging Het
Pierce1 TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC 2: 28,356,122 (GRCm39) probably benign Het
Pkhd1l1 T A 15: 44,361,986 (GRCm39) M553K probably benign Het
Ppp2r3d T C 9: 101,089,871 (GRCm39) N151D probably damaging Het
Prdm12 T C 2: 31,533,862 (GRCm39) W160R probably damaging Het
Prdm2 G A 4: 142,859,471 (GRCm39) T1273M possibly damaging Het
Prl2a1 A G 13: 27,991,353 (GRCm39) probably null Het
Prob1 G A 18: 35,787,603 (GRCm39) P217L possibly damaging Het
Ramp1 A C 1: 91,124,499 (GRCm39) H20P probably benign Het
Rbm47 T A 5: 66,184,093 (GRCm39) E170V possibly damaging Het
Relch G T 1: 105,649,141 (GRCm39) probably null Het
Rpn1 C T 6: 88,067,066 (GRCm39) P142L probably damaging Het
Rsu1 C T 2: 13,174,827 (GRCm39) R238H probably damaging Het
Sh3rf3 C T 10: 58,907,795 (GRCm39) P441L probably damaging Het
Slc1a6 A G 10: 78,650,438 (GRCm39) S559G possibly damaging Het
Slc35f5 C A 1: 125,500,222 (GRCm39) S245R probably damaging Het
Spcs3 T C 8: 54,979,554 (GRCm39) N76D probably benign Het
Spmip5 A T 19: 58,777,539 (GRCm39) Y90* probably null Het
Svep1 T C 4: 58,111,395 (GRCm39) T1075A possibly damaging Het
Sympk A T 7: 18,769,955 (GRCm39) I211F probably benign Het
Tk1 C T 11: 117,716,603 (GRCm39) M1I probably null Het
Tln2 A G 9: 67,253,743 (GRCm39) V776A probably benign Het
Tmem94 G T 11: 115,677,082 (GRCm39) R118L possibly damaging Het
Tnk2 T C 16: 32,499,618 (GRCm39) V977A probably benign Het
Toporsl A T 4: 52,611,630 (GRCm39) S508C probably benign Het
Trank1 A C 9: 111,206,938 (GRCm39) R1690S probably benign Het
Trio T A 15: 27,828,437 (GRCm39) Q1409L possibly damaging Het
Vit T C 17: 78,912,927 (GRCm39) F287L probably benign Het
Vmn2r109 G C 17: 20,761,700 (GRCm39) D552E probably benign Het
Zw10 T C 9: 48,972,491 (GRCm39) V186A probably benign Het
Other mutations in Bloc1s6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01458:Bloc1s6 APN 2 122,586,135 (GRCm39) critical splice donor site probably null
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
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
Predicted Primers PCR Primer
(F):5'- TAGCTTGCGTGGACTTCTTC -3'
(R):5'- TTTTGACACTTAGGCTACAGGTG -3'

Sequencing Primer
(F):5'- GCGTGGACTTCTTCCCTCC -3'
(R):5'- ACTTAGGCTACAGGTGACTCCATG -3'
Posted On 2019-06-26