Mutagenetix > Incidental Mutation

Incidental Mutation 'R0613:Hps6'

54922

Institutional Source

Beutler Lab

Gene Symbol

Hps6

Ensembl Gene

ENSMUSG00000074811

Gene Name

HPS6, biogenesis of lysosomal organelles complex 2 subunit 3

Synonyms

5330434M19Rik, BLOC-2, ruby eye, ru

MMRRC Submission

038802-MU

Accession Numbers

MGI: 2181763

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0613 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

46003478-46006173 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 46003821 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 66 (P66T)

Ref Sequence

ENSEMBL: ENSMUSP00000096991 (fasta)

Gene Model

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

AlphaFold

Q8BLY7

Predicted Effect

probably benign
Transcript: ENSMUST00000099393
AA Change: P66T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000096991
Gene: ENSMUSG00000074811
AA Change: P66T

Domain	Start	End	E-Value	Type
Pfam:HPS6	1	772	1e-281	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181820

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.3%

Validation Efficiency

100% (72/72)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acd	A	T	8: 105,700,568 (GRCm38)		probably null	Het
Adcy9	A	G	16: 4,419,539 (GRCm38)	S3P	probably damaging	Het
Adgrl4	T	C	3: 151,543,222 (GRCm38)		probably benign	Het
Aff3	T	C	1: 38,209,923 (GRCm38)	E700G	probably benign	Het
Ahctf1	A	G	1: 179,769,414 (GRCm38)	S56P	probably damaging	Het
Atp12a	T	A	14: 56,374,521 (GRCm38)	I384N	probably damaging	Het
Brca1	A	T	11: 101,508,210 (GRCm38)	S1519T	probably benign	Het
Ccl25	T	C	8: 4,349,850 (GRCm38)	V94A	probably benign	Het
Cep170	T	C	1: 176,774,680 (GRCm38)	T287A	probably benign	Het
Ces1a	A	G	8: 93,025,581 (GRCm38)	S383P	probably benign	Het
Cntnap3	A	T	13: 64,758,414 (GRCm38)	F793I	probably damaging	Het
Ctsm	T	C	13: 61,539,682 (GRCm38)	R89G	probably damaging	Het
Cyp2j12	T	G	4: 96,102,079 (GRCm38)	T417P	probably damaging	Het
D430041D05Rik	G	C	2: 104,167,950 (GRCm38)	P1836R	probably damaging	Het
Edn2	T	A	4: 120,161,864 (GRCm38)		probably null	Het
Emc1	T	A	4: 139,375,072 (GRCm38)		probably benign	Het
Fam189a2	T	A	19: 23,986,489 (GRCm38)	N239Y	probably damaging	Het
Fras1	T	C	5: 96,700,488 (GRCm38)		probably benign	Het
Fsip2	A	T	2: 82,993,795 (GRCm38)	D6624V	probably damaging	Het
Gpr107	A	G	2: 31,178,285 (GRCm38)	Y253C	probably damaging	Het
Gpr108	A	G	17: 57,238,174 (GRCm38)		probably benign	Het
Grik1	A	G	16: 88,051,333 (GRCm38)		probably null	Het
Gtf3c1	G	A	7: 125,644,134 (GRCm38)	P1766L	possibly damaging	Het
Gucy2c	A	T	6: 136,760,723 (GRCm38)	N293K	probably damaging	Het
Hspa9	A	T	18: 34,947,980 (GRCm38)	V216E	probably damaging	Het
Igsf8	T	A	1: 172,317,589 (GRCm38)	M224K	probably benign	Het
Igsf9b	T	C	9: 27,326,920 (GRCm38)	V569A	probably damaging	Het
Itgb4	A	T	11: 115,993,342 (GRCm38)	I952F	probably damaging	Het
Kcnh4	C	T	11: 100,746,932 (GRCm38)	G633E	probably benign	Het
Khdrbs2	A	G	1: 32,657,522 (GRCm38)	H344R	possibly damaging	Het
Kmo	C	A	1: 175,637,892 (GRCm38)	R71S	probably damaging	Het
Lrrc31	A	G	3: 30,685,035 (GRCm38)		probably benign	Het
Map1b	T	A	13: 99,441,641 (GRCm38)	D168V	probably damaging	Het
Mfsd6	T	C	1: 52,658,696 (GRCm38)		probably benign	Het
Mgst1	G	A	6: 138,156,245 (GRCm38)	G186D	probably damaging	Het
Mrc1	C	T	2: 14,294,819 (GRCm38)	A740V	probably damaging	Het
Mroh2a	G	A	1: 88,243,950 (GRCm38)	R770Q	probably damaging	Het
Mtor	T	C	4: 148,526,046 (GRCm38)	Y1605H	possibly damaging	Het
Ncoa4	T	A	14: 32,176,552 (GRCm38)	L443Q	probably damaging	Het
Nelfa	G	A	5: 33,903,463 (GRCm38)		probably benign	Het
Nepn	T	A	10: 52,401,257 (GRCm38)	L363Q	probably damaging	Het
Nfat5	A	G	8: 107,366,295 (GRCm38)	T630A	possibly damaging	Het
Nipal4	A	T	11: 46,150,384 (GRCm38)	V328E	probably benign	Het
Olfr1228	A	T	2: 89,249,125 (GRCm38)	C178S	probably damaging	Het
Olfr1391	T	A	11: 49,327,748 (GRCm38)	S112R	possibly damaging	Het
Olfr462	A	T	11: 87,889,227 (GRCm38)	V223E	possibly damaging	Het
Olfr747	T	A	14: 50,681,404 (GRCm38)	I77F	probably benign	Het
Olfr809	T	A	10: 129,776,262 (GRCm38)	M116K	probably damaging	Het
Olfr924	T	A	9: 38,848,613 (GRCm38)	C166*	probably null	Het
Otogl	A	T	10: 107,817,070 (GRCm38)	N1140K	probably damaging	Het
Ppip5k2	A	C	1: 97,752,740 (GRCm38)	Y236*	probably null	Het
Prelid1	C	T	13: 55,324,343 (GRCm38)	R111*	probably null	Het
Prpf8	T	C	11: 75,503,444 (GRCm38)	L1771P	probably damaging	Het
Ptprb	A	T	10: 116,302,325 (GRCm38)	Y378F	possibly damaging	Het
Ptprb	A	G	10: 116,302,378 (GRCm38)	T396A	possibly damaging	Het
Rab3il1	T	C	19: 10,028,364 (GRCm38)	L174P	probably damaging	Het
Rab4a	T	C	8: 123,823,835 (GRCm38)	V18A	possibly damaging	Het
Scn3a	T	A	2: 65,472,284 (GRCm38)	M1273L	possibly damaging	Het
Sdhc	A	T	1: 171,129,844 (GRCm38)	V156E	probably benign	Het
Slco3a1	T	C	7: 74,346,634 (GRCm38)		probably benign	Het
Syne3	T	C	12: 104,958,112 (GRCm38)	T343A	probably benign	Het
Syt11	A	G	3: 88,762,469 (GRCm38)	C39R	probably damaging	Het
Tll2	G	T	19: 41,104,990 (GRCm38)	D462E	probably damaging	Het
Tmem132e	T	A	11: 82,438,338 (GRCm38)	V481D	probably damaging	Het
Tmem161b	C	T	13: 84,251,320 (GRCm38)	L17F	probably damaging	Het
Vmn2r105	T	A	17: 20,208,316 (GRCm38)	I833F	probably damaging	Het
Vstm2a	A	T	11: 16,263,140 (GRCm38)	N175I	probably damaging	Het
Xpnpep1	G	T	19: 53,006,353 (GRCm38)	D238E	probably damaging	Het
Zfp112	G	A	7: 24,127,028 (GRCm38)	G807D	probably benign	Het
Zfp518b	A	T	5: 38,673,603 (GRCm38)	V353E	probably damaging	Het
Zfp69	T	C	4: 120,934,347 (GRCm38)	E39G	probably benign	Het
Zfp865	A	G	7: 5,029,091 (GRCm38)	H25R	possibly 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
IGL02826:Hps6	APN	19	46,006,041 (GRCm38)	makesense	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- ATTCACCAGGGACGGAAGTGTCAG -3'
(R):5'- AGTAGCTTCCATCCAGGCTCCATC -3'

Sequencing Primer
(F):5'- AAGTGTCAGCCCTGCACTC -3'
(R):5'- CAGGCTCCATCCCCACG -3'

Posted On

2013-07-11