Incidental Mutation 'IGL02826:Hps6'
ID361208
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hps6
Ensembl Gene ENSMUSG00000074811
Gene NameHPS6, biogenesis of lysosomal organelles complex 2 subunit 3
Synonyms5330434M19Rik, BLOC-2, ruby eye, ru
Accession Numbers

MGI: 2181763

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02826
Quality Score
Status
Chromosome19
Chromosomal Location46003478-46006173 bp(+) (GRCm38)
Type of Mutationmakesense
DNA Base Change (assembly) T to A at 46006041 bp
ZygosityHeterozygous
Amino Acid Change Stop codon to Lysine at position 806 (*806K)
Ref Sequence ENSEMBL: ENSMUSP00000096991 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099393]
Predicted Effect probably null
Transcript: ENSMUST00000099393
AA Change: *806K
SMART Domains Protein: ENSMUSP00000096991
Gene: ENSMUSG00000074811
AA Change: *806K

DomainStartEndE-ValueType
Pfam:HPS6 1 772 1e-281 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181820
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 5 protein. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 6. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutations in this gene result in hypopigmented hair and eyes, and increased clotting time due to a platelet dense granule defect. [provided by MGI curators]
Allele List at MGI

All alleles(9) : Spontaneous(8) Chemically induced(1)

Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110004E09Rik A C 16: 90,926,062 D261E probably benign Het
1810041L15Rik A G 15: 84,420,129 probably benign Het
4930404N11Rik A G 10: 81,364,736 probably benign Het
A3galt2 T C 4: 128,761,509 probably benign Het
Alk C T 17: 71,869,536 G1591D probably damaging Het
Angptl2 T C 2: 33,228,315 S34P probably benign Het
Atp2a2 A G 5: 122,489,291 V137A probably benign Het
Atp8b5 A G 4: 43,366,770 M845V probably damaging Het
Camk1d A G 2: 5,565,760 V30A possibly damaging Het
Ceacam19 G A 7: 19,882,610 T193I probably benign Het
Chst15 T A 7: 132,266,746 D315V probably damaging Het
Cux1 G T 5: 136,308,003 P885Q probably damaging Het
Cyth1 C T 11: 118,185,481 E88K possibly damaging Het
Dido1 A G 2: 180,683,958 V479A probably benign Het
Dlc1 G T 8: 36,570,275 probably benign Het
H2-Ab1 G A 17: 34,264,911 R82Q probably damaging Het
Ilf3 T C 9: 21,398,044 S486P probably benign Het
Kdm1b C A 13: 47,080,467 T759K probably damaging Het
Kirrel C A 3: 87,088,485 V381F probably damaging Het
Kmt2b A T 7: 30,577,144 V1701E probably damaging Het
Lrmda T C 14: 22,828,737 Y100H probably damaging Het
Mastl T C 2: 23,145,409 I169V probably damaging Het
Mroh2b A G 15: 4,962,148 E1576G probably damaging Het
Nek3 A T 8: 22,160,368 probably null Het
Nipal3 G T 4: 135,468,550 Y247* probably null Het
Nt5e A C 9: 88,355,705 K229N probably damaging Het
Olfr237-ps1 A G 6: 43,153,577 I91V possibly damaging Het
Olfr974 G T 9: 39,942,958 G233C probably damaging Het
Opa1 A G 16: 29,610,887 M290V probably null Het
Parp2 T A 14: 50,815,415 I155K probably benign Het
Pde4dip G T 3: 97,767,087 A171E probably damaging Het
Prom2 C T 2: 127,531,116 E678K probably benign Het
Rab12 A G 17: 66,498,116 probably benign Het
Rgs8 A T 1: 153,670,799 T13S probably damaging Het
Setd3 A G 12: 108,112,124 probably benign Het
Slx4ip G A 2: 137,004,973 V53I probably damaging Het
Stil A G 4: 115,024,098 D613G probably benign Het
Tjp3 T A 10: 81,273,689 S858C probably damaging Het
Tmem215 A G 4: 40,474,632 *236W probably null Het
Ttbk1 A G 17: 46,470,660 V389A probably benign Het
Wdfy4 A G 14: 32,971,750 F2706S possibly damaging Het
Xpo4 C A 14: 57,629,420 V222L possibly damaging Het
Zfc3h1 A G 10: 115,400,904 S428G probably benign Het
Zfp286 T C 11: 62,787,960 Q47R probably damaging Het
Zfp318 A G 17: 46,398,754 K468E probably damaging Het
Other mutations in Hps6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00743:Hps6 APN 19 46003660 missense probably damaging 1.00
stamper-coat UTSW 19 46003836 missense probably damaging 1.00
R0299:Hps6 UTSW 19 46004232 missense probably damaging 0.98
R0613:Hps6 UTSW 19 46003821 missense probably benign
R1036:Hps6 UTSW 19 46004241 missense probably benign 0.00
R1845:Hps6 UTSW 19 46004970 missense probably benign 0.30
R1959:Hps6 UTSW 19 46004335 missense probably benign 0.33
R2271:Hps6 UTSW 19 46005682 missense possibly damaging 0.86
R2332:Hps6 UTSW 19 46004491 missense possibly damaging 0.82
R3156:Hps6 UTSW 19 46003741 missense probably damaging 1.00
R3937:Hps6 UTSW 19 46004053 missense probably damaging 0.97
R7108:Hps6 UTSW 19 46005490 missense probably damaging 1.00
R7384:Hps6 UTSW 19 46004017 missense possibly damaging 0.96
X0065:Hps6 UTSW 19 46004166 missense possibly damaging 0.82
Posted On2015-12-18