Incidental Mutation 'R1845:Hps6'
ID 207692
Institutional Source Beutler Lab
Gene Symbol Hps6
Ensembl Gene ENSMUSG00000074811
Gene Name HPS6, biogenesis of lysosomal organelles complex 2 subunit 3
Synonyms BLOC-2, ruby eye, 5330434M19Rik, Hermansky-Pudlak syndrome 6, ru
MMRRC Submission 039870-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1845 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 45991947-45994612 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 45993409 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 449 (S449T)
Ref Sequence ENSEMBL: ENSMUSP00000096991 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099393]
AlphaFold Q8BLY7
Predicted Effect probably benign
Transcript: ENSMUST00000099393
AA Change: S449T

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000096991
Gene: ENSMUSG00000074811
AA Change: S449T

DomainStartEndE-ValueType
Pfam:HPS6 1 772 1e-281 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181820
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.0%
  • 20x: 91.7%
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik CGGG CGGGGGG 15: 76,833,863 (GRCm39) probably benign Het
Abca17 A T 17: 24,486,690 (GRCm39) C1446S probably damaging Het
Asb16 C A 11: 102,167,582 (GRCm39) A316E possibly damaging Het
Axdnd1 C T 1: 156,204,114 (GRCm39) V384I possibly damaging Het
BC024139 A T 15: 76,009,461 (GRCm39) L207* probably null Het
Bcl3 T G 7: 19,543,552 (GRCm39) S305R probably damaging Het
Cachd1 T C 4: 100,634,555 (GRCm39) V77A probably benign Het
Cd101 C T 3: 100,936,764 (GRCm39) probably null Het
Cela1 T C 15: 100,583,048 (GRCm39) N64S probably benign Het
Cep128 T C 12: 91,256,372 (GRCm39) D366G probably benign Het
Col12a1 A G 9: 79,604,823 (GRCm39) V675A probably benign Het
Copg1 A G 6: 87,870,800 (GRCm39) Y201C probably damaging Het
Cyp24a1 T C 2: 170,329,837 (GRCm39) R372G probably benign Het
Dcaf1 A C 9: 106,729,161 (GRCm39) I567L probably benign Het
Dcn A G 10: 97,342,536 (GRCm39) D164G probably benign Het
Dnase2a T A 8: 85,635,951 (GRCm39) H113Q probably benign Het
Espl1 T C 15: 102,207,448 (GRCm39) V304A probably benign Het
Fam193a A G 5: 34,600,716 (GRCm39) D315G possibly damaging Het
Fkbp8 T A 8: 70,983,685 (GRCm39) probably null Het
Foxp4 T A 17: 48,188,884 (GRCm39) T321S probably null Het
Fut10 A G 8: 31,726,328 (GRCm39) N361S probably damaging Het
Gyg1 A T 3: 20,205,286 (GRCm39) V94D probably damaging Het
Has2 T C 15: 56,531,974 (GRCm39) K247R probably damaging Het
Helz2 G T 2: 180,873,878 (GRCm39) D2205E probably benign Het
Ints10 T C 8: 69,247,323 (GRCm39) Y64H probably damaging Het
Kalrn T C 16: 34,177,331 (GRCm39) H278R probably damaging Het
Klhdc8a T C 1: 132,231,548 (GRCm39) V280A possibly damaging Het
Klk1b5 A G 7: 43,869,549 (GRCm39) M210V probably benign Het
Kmt2c G A 5: 25,578,434 (GRCm39) A614V probably benign Het
Lck T A 4: 129,451,879 (GRCm39) I45F probably benign Het
Lin7a A C 10: 107,247,920 (GRCm39) E75A probably damaging Het
Lrp1 A T 10: 127,414,542 (GRCm39) C1070S probably damaging Het
Mapk8ip3 G T 17: 25,133,557 (GRCm39) N289K probably benign Het
Mbtps1 T C 8: 120,249,232 (GRCm39) D686G probably benign Het
Mknk1 T A 4: 115,730,428 (GRCm39) C178* probably null Het
Mtmr6 A G 14: 60,534,184 (GRCm39) N474S probably damaging Het
Mvb12b A G 2: 33,730,169 (GRCm39) probably null Het
Myh6 T C 14: 55,182,131 (GRCm39) K1759R probably damaging Het
Nfatc1 T C 18: 80,678,746 (GRCm39) K881E possibly damaging Het
Nlrp10 A G 7: 108,526,248 (GRCm39) F30S probably damaging Het
Nop14 G T 5: 34,807,672 (GRCm39) A430E possibly damaging Het
Ntn4 C T 10: 93,543,215 (GRCm39) R314W probably damaging Het
Or1j18 A T 2: 36,624,854 (GRCm39) I174F probably damaging Het
Or4c107 A G 2: 88,789,211 (GRCm39) I134V probably damaging Het
Or4c108 A G 2: 88,803,482 (GRCm39) V251A probably benign Het
Or6c205 A G 10: 129,086,463 (GRCm39) E20G probably benign Het
Or6c88 A T 10: 129,407,217 (GRCm39) Q231L probably damaging Het
Or7g17 A T 9: 18,768,782 (GRCm39) Y287F possibly damaging Het
Osbpl7 C A 11: 96,949,954 (GRCm39) S378R probably damaging Het
Otof A T 5: 30,529,067 (GRCm39) Y1775* probably null Het
Parp16 T C 9: 65,122,876 (GRCm39) S46P possibly damaging Het
Pdlim2 C T 14: 70,402,228 (GRCm39) R296H probably damaging Het
Pi16 A T 17: 29,538,361 (GRCm39) Q58L possibly damaging Het
Pld3 C A 7: 27,238,877 (GRCm39) M190I probably benign Het
Plscr4 T G 9: 92,372,099 (GRCm39) I290S probably damaging Het
Ppip5k2 T C 1: 97,651,531 (GRCm39) D928G possibly damaging Het
Ppp1r13l T A 7: 19,102,536 (GRCm39) L15Q probably damaging Het
Prorp T A 12: 55,351,117 (GRCm39) I142N possibly damaging Het
Ptpn14 C A 1: 189,571,699 (GRCm39) S263R possibly damaging Het
Sema7a G A 9: 57,862,182 (GRCm39) V178I possibly damaging Het
Sesn2 A T 4: 132,224,381 (GRCm39) Y342* probably null Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Sltm A G 9: 70,450,314 (GRCm39) N38S possibly damaging Het
Smg1 T C 7: 117,753,845 (GRCm39) probably benign Het
Spsb1 A T 4: 149,991,367 (GRCm39) V67E probably damaging Het
Suox A G 10: 128,506,408 (GRCm39) V540A possibly damaging Het
Tbc1d12 T A 19: 38,899,529 (GRCm39) I483N probably damaging Het
Tbcb A T 7: 29,923,924 (GRCm39) D198E possibly damaging Het
Tbce T C 13: 14,194,294 (GRCm39) K122E probably benign Het
Tcap T A 11: 98,275,205 (GRCm39) L113H probably damaging Het
Thsd7a A T 6: 12,321,040 (GRCm39) I1545N probably damaging Het
Tmed10 T C 12: 85,421,277 (GRCm39) T55A possibly damaging Het
Tmem268 T A 4: 63,498,180 (GRCm39) V200D probably damaging Het
Tmem45b A C 9: 31,342,651 (GRCm39) I50M probably damaging Het
Trp53bp2 T C 1: 182,286,468 (GRCm39) W1103R probably damaging Het
Ttn C T 2: 76,594,377 (GRCm39) V20524M probably damaging Het
Ulk2 A T 11: 61,703,564 (GRCm39) N379K probably benign Het
Vmn1r59 A G 7: 5,457,553 (GRCm39) V69A probably benign Het
Vmn2r10 A T 5: 109,149,861 (GRCm39) Y394* probably null Het
Zfp212 T C 6: 47,908,475 (GRCm39) S485P probably benign Het
Zfp512b A T 2: 181,227,528 (GRCm39) C776S probably damaging Het
Zfp518b A G 5: 38,829,084 (GRCm39) Y974H probably damaging Het
Other mutations in Hps6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00743:Hps6 APN 19 45,992,099 (GRCm39) missense probably damaging 1.00
IGL02826:Hps6 APN 19 45,994,480 (GRCm39) makesense probably null
stamper-coat UTSW 19 45,992,275 (GRCm39) missense probably damaging 1.00
R0299:Hps6 UTSW 19 45,992,671 (GRCm39) missense probably damaging 0.98
R0613:Hps6 UTSW 19 45,992,260 (GRCm39) missense probably benign
R1036:Hps6 UTSW 19 45,992,680 (GRCm39) missense probably benign 0.00
R1959:Hps6 UTSW 19 45,992,774 (GRCm39) missense probably benign 0.33
R2271:Hps6 UTSW 19 45,994,121 (GRCm39) missense possibly damaging 0.86
R2332:Hps6 UTSW 19 45,992,930 (GRCm39) missense possibly damaging 0.82
R3156:Hps6 UTSW 19 45,992,180 (GRCm39) missense probably damaging 1.00
R3937:Hps6 UTSW 19 45,992,492 (GRCm39) missense probably damaging 0.97
R7108:Hps6 UTSW 19 45,993,929 (GRCm39) missense probably damaging 1.00
R7384:Hps6 UTSW 19 45,992,456 (GRCm39) missense possibly damaging 0.96
R7710:Hps6 UTSW 19 45,993,007 (GRCm39) missense probably benign 0.03
R8444:Hps6 UTSW 19 45,993,867 (GRCm39) missense possibly damaging 0.72
R8530:Hps6 UTSW 19 45,991,959 (GRCm39) start gained probably benign
R8773:Hps6 UTSW 19 45,994,141 (GRCm39) missense possibly damaging 0.92
R8868:Hps6 UTSW 19 45,992,446 (GRCm39) missense possibly damaging 0.89
R9329:Hps6 UTSW 19 45,992,542 (GRCm39) missense probably benign 0.00
R9385:Hps6 UTSW 19 45,994,349 (GRCm39) missense probably damaging 0.97
R9803:Hps6 UTSW 19 45,993,947 (GRCm39) nonsense probably null
X0065:Hps6 UTSW 19 45,992,605 (GRCm39) missense possibly damaging 0.82
Predicted Primers PCR Primer
(F):5'- AGCCCTACGATTGCTTTCAG -3'
(R):5'- TTGAATTGGGCCAGCTGGTC -3'

Sequencing Primer
(F):5'- ACGATTGCTTTCAGCCTTGG -3'
(R):5'- AGCTGGTCTCCTGTCAACTGG -3'
Posted On 2014-06-23