Incidental Mutation 'R4274:Hps4'
Institutional Source Beutler Lab
Gene Symbol Hps4
Ensembl Gene ENSMUSG00000042328
Gene NameHPS4, biogenesis of lysosomal organelles complex 3 subunit 2
SynonymsBLOC-3, 2010205O06Rik, C130020P05Rik
MMRRC Submission 041077-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.321) question?
Stock #R4274 (G1)
Quality Score225
Status Validated
Chromosomal Location112343083-112378414 bp(+) (GRCm38)
Type of Mutationintron
DNA Base Change (assembly) G to A at 112375030 bp
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000107978 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035279] [ENSMUST00000112359]
Predicted Effect probably benign
Transcript: ENSMUST00000035279
SMART Domains Protein: ENSMUSP00000047920
Gene: ENSMUSG00000042328

low complexity region 171 180 N/A INTRINSIC
low complexity region 467 486 N/A INTRINSIC
low complexity region 514 529 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112359
SMART Domains Protein: ENSMUSP00000107978
Gene: ENSMUSG00000042328

low complexity region 171 180 N/A INTRINSIC
low complexity region 467 486 N/A INTRINSIC
low complexity region 514 529 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133708
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176660
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177121
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199500
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency 98% (55/56)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein component of biogenesis of lysosome-related organelles complexes (BLOC). BLOC complexes are important for the formation of endosomal-lysosomal organelles such as melanosomes and platelet dense granules. Mutations in this gene result in subtype 4 of Hermansky-Pudlak syndrome, a form of albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
PHENOTYPE: Homozygotes for a spontaneous null mutation exhibit hypopigmentation, prolonged bleeding associated with a platelet defect, reduced secretion of kidney lysosomal enzymes, and resistance to diet-induced atherosclerosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a T C 11: 110,090,104 Y36C probably damaging Het
Abcc4 T C 14: 118,629,622 R228G probably damaging Het
Acap2 A T 16: 31,108,114 S528T probably benign Het
Adamts6 T A 13: 104,314,279 D323E possibly damaging Het
Ano8 G T 8: 71,478,741 probably benign Het
Ano9 T G 7: 141,110,695 Q48P probably benign Het
Atp13a1 T G 8: 69,805,292 L899R probably benign Het
Card10 G A 15: 78,780,514 R747W probably damaging Het
Csn1s1 T C 5: 87,680,961 *295R probably null Het
Dhx9 A G 1: 153,468,926 I505T probably damaging Het
Dnajc17 A T 2: 119,186,385 S37T probably benign Het
Dot1l T A 10: 80,783,988 probably null Het
Dph7 A G 2: 24,963,500 N109S possibly damaging Het
Ednra C T 8: 77,720,302 G49D probably benign Het
Fam83g T C 11: 61,701,728 M259T probably damaging Het
Fer1l4 A T 2: 156,020,544 D1736E probably damaging Het
Fetub T C 16: 22,935,679 I212T probably damaging Het
Foxc2 C A 8: 121,117,700 S362R probably benign Het
Gm8444 A G 15: 81,843,533 probably benign Het
Gpank1 G A 17: 35,124,269 E242K probably benign Het
Hspg2 C T 4: 137,518,940 R1010C probably damaging Het
Ighv1-20 A T 12: 114,724,199 W3R probably damaging Het
Kcnq1 T C 7: 143,184,442 I209T probably damaging Het
Me3 A T 7: 89,806,726 E262V probably damaging Het
Mei1 G A 15: 82,124,863 R1233Q possibly damaging Het
Mrc2 G A 11: 105,348,431 probably null Het
Mrgprx3-ps T C 7: 47,309,826 noncoding transcript Het
Olfr1281 A T 2: 111,328,815 Y132F probably damaging Het
Olfr160 A T 9: 37,712,068 D70E probably damaging Het
Olfr478 C A 7: 108,031,544 K266N probably benign Het
Ostm1 T C 10: 42,698,234 F153L probably damaging Het
Pkd1l3 C T 8: 109,624,119 T532I possibly damaging Het
Prpf40a G A 2: 53,146,172 H624Y probably damaging Het
Rtn2 T C 7: 19,287,324 S210P probably benign Het
Siglec1 T C 2: 131,085,814 Q24R probably benign Het
Smurf1 T C 5: 144,896,775 probably benign Het
Ssr1 G A 13: 37,985,290 L225F possibly damaging Het
Tlr6 A G 5: 64,953,638 I642T probably benign Het
Tnrc18 T C 5: 142,743,650 K1674R unknown Het
Tns1 T A 1: 73,928,098 Y1115F probably damaging Het
Trim56 T A 5: 137,113,687 E325V probably damaging Het
Ttn T C 2: 76,775,974 T18164A possibly damaging Het
Ugt2a3 A T 5: 87,327,689 D361E probably damaging Het
Vmn2r125 T C 4: 156,350,087 I56T probably benign Het
Xkr5 T A 8: 18,934,167 H453L probably benign Het
Zcchc7 C T 4: 44,931,335 H496Y possibly damaging Het
Zfp82 C T 7: 30,056,367 R430H probably damaging Het
Zscan22 T C 7: 12,906,324 V6A probably benign Het
Other mutations in Hps4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01485:Hps4 APN 5 112364511 splice site probably benign
IGL02331:Hps4 APN 5 112369536 missense probably benign 0.03
IGL02410:Hps4 APN 5 112370227 missense probably benign 0.07
IGL02821:Hps4 APN 5 112375441 missense probably benign 0.02
R0748:Hps4 UTSW 5 112374914 missense probably damaging 1.00
R1487:Hps4 UTSW 5 112377999 nonsense probably null
R1891:Hps4 UTSW 5 112369556 splice site probably null
R2010:Hps4 UTSW 5 112369476 missense probably damaging 1.00
R2305:Hps4 UTSW 5 112346661 missense probably damaging 0.99
R3196:Hps4 UTSW 5 112364563 missense probably damaging 1.00
R4878:Hps4 UTSW 5 112375368 missense probably benign 0.12
R4988:Hps4 UTSW 5 112378153 utr 3 prime probably benign
R5843:Hps4 UTSW 5 112349430 critical splice donor site probably null
R5896:Hps4 UTSW 5 112369485 missense probably benign 0.02
R6318:Hps4 UTSW 5 112346629 missense probably damaging 1.00
R7381:Hps4 UTSW 5 112375458 missense possibly damaging 0.86
R7781:Hps4 UTSW 5 112370522 missense probably benign 0.14
Z1177:Hps4 UTSW 5 112370377 missense probably damaging 0.99
Predicted Primers PCR Primer

Sequencing Primer
Posted On2015-06-24