Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00743:Hps6'

11332

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00743

Quality Score

Status

Chromosome

Chromosomal Location

46003478-46006173 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 46003660 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 12 (D12V)

Ref Sequence

ENSEMBL: ENSMUSP00000096991 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099393]

Predicted Effect

probably damaging
Transcript: ENSMUST00000099393
AA Change: D12V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000096991
Gene: ENSMUSG00000074811
AA Change: D12V

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss1	T	C	2: 150,619,686	E659G	probably benign	Het
Adgrg6	A	C	10: 14,535,959		probably benign	Het
Als2cl	A	G	9: 110,889,159	K323E	possibly damaging	Het
Atm	A	C	9: 53,513,116	S628R	probably benign	Het
Baz2a	T	C	10: 128,114,526	V443A	probably benign	Het
Bclaf3	T	A	X: 159,558,361	F545Y	probably benign	Het
Calcr	T	C	6: 3,717,196	Y88C	probably damaging	Het
Ccdc178	C	T	18: 22,145,444		probably benign	Het
Cdh20	A	G	1: 104,947,428	T312A	probably benign	Het
Chrnd	G	A	1: 87,192,927	W91*	probably null	Het
Cntln	T	C	4: 84,979,415	F413S	probably benign	Het
Ctsq	A	T	13: 61,036,184	I308N	probably damaging	Het
Cyp2d34	A	T	15: 82,617,535	V258D	probably damaging	Het
Dnajc13	G	A	9: 104,162,780	P2044S	probably benign	Het
Hnrnpm	C	A	17: 33,649,902	R517L	probably damaging	Het
Hpse	T	C	5: 100,698,999	D188G	probably benign	Het
Id2	C	A	12: 25,095,356	E123*	probably null	Het
Ints10	C	T	8: 68,819,333	P562L	probably damaging	Het
Kctd10	G	A	5: 114,367,349	R195C	probably damaging	Het
Kel	A	C	6: 41,688,575	L537R	probably damaging	Het
Kif19a	T	C	11: 114,784,773	V357A	probably damaging	Het
Lrrtm3	A	T	10: 64,089,209	S60T	probably damaging	Het
Myof	C	A	19: 37,960,934	R608L	probably benign	Het
Naa35	A	T	13: 59,630,671	I669F	probably benign	Het
Olfr968	A	G	9: 39,772,111	S230P	possibly damaging	Het
Olfr971	A	T	9: 39,839,706	I91F	probably benign	Het
Pclo	G	T	5: 14,678,021		probably benign	Het
Pik3c3	C	T	18: 30,274,364	S55F	probably damaging	Het
Prdm6	T	G	18: 53,540,228	D153E	possibly damaging	Het
Rnf183	T	C	4: 62,428,373	T63A	probably benign	Het
Samd4b	A	C	7: 28,401,877	I108S	probably damaging	Het
Slc9a7	T	C	X: 20,106,021	D708G	possibly damaging	Het
Stim2	A	G	5: 54,053,493	D90G	probably benign	Het
Tmem52b	A	G	6: 129,516,715	D97G	probably damaging	Het
Tnfsf15	T	C	4: 63,734,281	R98G	probably benign	Het
Uxs1	C	T	1: 43,757,013	V310I	probably benign	Het
Vcan	A	C	13: 89,725,306	M143R	probably damaging	Het
Vmn2r93	T	C	17: 18,326,242	F792S	probably damaging	Het
Zfp455	T	C	13: 67,207,898	I345T	probably benign	Het
Zfp938	A	T	10: 82,226,483	M101K	probably benign	Het
Zkscan2	A	G	7: 123,479,972	S921P	probably damaging	Het

Other mutations in Hps6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02826:Hps6	APN	19	46006041	makesense	probably null
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
R7710:Hps6	UTSW	19	46004568	missense	probably benign	0.03
R8444:Hps6	UTSW	19	46005428	missense	possibly damaging	0.72
R8530:Hps6	UTSW	19	46003520	start gained	probably benign
X0065:Hps6	UTSW	19	46004166	missense	possibly damaging	0.82

Posted On

2012-12-06