Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02826:Hps6'

361208

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hps6

Ensembl Gene

ENSMUSG00000074811

Gene Name

HPS6, biogenesis of lysosomal organelles complex 2 subunit 3

Synonyms

5330434M19Rik, BLOC-2, ruby eye, ru

Accession Numbers

MGI: 2181763

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02826

Quality Score

Status

Chromosome

Chromosomal Location

46003478-46006173 bp(+) (GRCm38)

Type of Mutation

makesense

DNA Base Change (assembly)

T to A at 46006041 bp (GRCm38)

Zygosity

Heterozygous

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]

AlphaFold

Q8BLY7

Predicted Effect

probably null
Transcript: ENSMUST00000099393
AA Change: *806K

SMART Domains

Protein: ENSMUSP00000096991
Gene: ENSMUSG00000074811
AA Change: *806K

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00743:Hps6	APN	19	46,003,660 (GRCm38)	missense	probably damaging	1.00
stamper-coat	UTSW	19	46,003,836 (GRCm38)	missense	probably damaging	1.00
R0299:Hps6	UTSW	19	46,004,232 (GRCm38)	missense	probably damaging	0.98
R0613:Hps6	UTSW	19	46,003,821 (GRCm38)	missense	probably benign
R1036:Hps6	UTSW	19	46,004,241 (GRCm38)	missense	probably benign	0.00
R1845:Hps6	UTSW	19	46,004,970 (GRCm38)	missense	probably benign	0.30
R1959:Hps6	UTSW	19	46,004,335 (GRCm38)	missense	probably benign	0.33
R2271:Hps6	UTSW	19	46,005,682 (GRCm38)	missense	possibly damaging	0.86
R2332:Hps6	UTSW	19	46,004,491 (GRCm38)	missense	possibly damaging	0.82
R3156:Hps6	UTSW	19	46,003,741 (GRCm38)	missense	probably damaging	1.00
R3937:Hps6	UTSW	19	46,004,053 (GRCm38)	missense	probably damaging	0.97
R7108:Hps6	UTSW	19	46,005,490 (GRCm38)	missense	probably damaging	1.00
R7384:Hps6	UTSW	19	46,004,017 (GRCm38)	missense	possibly damaging	0.96
R7710:Hps6	UTSW	19	46,004,568 (GRCm38)	missense	probably benign	0.03
R8444:Hps6	UTSW	19	46,005,428 (GRCm38)	missense	possibly damaging	0.72
R8530:Hps6	UTSW	19	46,003,520 (GRCm38)	start gained	probably benign
R8773:Hps6	UTSW	19	46,005,702 (GRCm38)	missense	possibly damaging	0.92
R8868:Hps6	UTSW	19	46,004,007 (GRCm38)	missense	possibly damaging	0.89
R9329:Hps6	UTSW	19	46,004,103 (GRCm38)	missense	probably benign	0.00
R9385:Hps6	UTSW	19	46,005,910 (GRCm38)	missense	probably damaging	0.97
R9803:Hps6	UTSW	19	46,005,508 (GRCm38)	nonsense	probably null
X0065:Hps6	UTSW	19	46,004,166 (GRCm38)	missense	possibly damaging	0.82

Posted On

2015-12-18