Mutagenetix > Incidental Mutation

Incidental Mutation 'R3937:Hps6'

307257

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

040921-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3937 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45991947-45994612 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45992492 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 143 (E143G)

Ref Sequence

ENSEMBL: ENSMUSP00000096991 (fasta)

Gene Model

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

AlphaFold

Q8BLY7

Predicted Effect

probably damaging
Transcript: ENSMUST00000099393
AA Change: E143G

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000096991
Gene: ENSMUSG00000074811
AA Change: E143G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181820

Meta Mutation Damage Score

0.3272

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (60/60)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	T	G	4: 148,026,510 (GRCm39)	S343R	possibly damaging	Het
Abca8b	G	T	11: 109,865,393 (GRCm39)	P355T	probably benign	Het
Abhd15	T	C	11: 77,406,764 (GRCm39)	V247A	probably benign	Het
Adamts1	C	T	16: 85,592,507 (GRCm39)	V634M	possibly damaging	Het
BC049715	T	C	6: 136,817,453 (GRCm39)	I231T	possibly damaging	Het
Chpf	A	T	1: 75,454,184 (GRCm39)	V198E	probably damaging	Het
Cp	C	T	3: 20,025,198 (GRCm39)	P386S	probably damaging	Het
Cth	A	G	3: 157,625,677 (GRCm39)	I107T	possibly damaging	Het
Ctrc	T	C	4: 141,567,632 (GRCm39)	D157G	probably damaging	Het
D630003M21Rik	A	G	2: 158,042,280 (GRCm39)	Y889H	probably damaging	Het
Elavl3	A	G	9: 21,930,040 (GRCm39)	V288A	probably damaging	Het
Esyt3	A	T	9: 99,218,245 (GRCm39)	I130K	probably benign	Het
F13a1	A	T	13: 37,100,875 (GRCm39)	V423D	probably damaging	Het
Faf1	T	C	4: 109,614,889 (GRCm39)		probably benign	Het
Fam227b	A	T	2: 125,968,980 (GRCm39)	D31E	probably benign	Het
Fastkd2	A	G	1: 63,776,995 (GRCm39)	D377G	possibly damaging	Het
Fbxl6	G	A	15: 76,420,824 (GRCm39)	R384*	probably null	Het
Fcamr	A	T	1: 130,732,313 (GRCm39)	H44L	probably damaging	Het
Fhod3	A	G	18: 25,223,818 (GRCm39)	N1055D	probably benign	Het
Garem1	A	T	18: 21,281,863 (GRCm39)	Y164*	probably null	Het
Gemin4	C	T	11: 76,103,714 (GRCm39)	C349Y	probably damaging	Het
Gnal	A	G	18: 67,268,441 (GRCm39)		probably null	Het
Hacl1	T	C	14: 31,356,148 (GRCm39)		probably benign	Het
Hectd3	T	C	4: 116,855,727 (GRCm39)	V409A	probably benign	Het
Hspa4	T	A	11: 53,161,776 (GRCm39)	I459L	probably benign	Het
Ighv3-6	G	A	12: 114,252,061 (GRCm39)	Q21*	probably null	Het
Ints3	G	A	3: 90,311,294 (GRCm39)	R438*	probably null	Het
Jmjd6	T	C	11: 116,731,991 (GRCm39)	N237D	probably benign	Het
Lrrk2	C	A	15: 91,662,707 (GRCm39)	T1912K	probably damaging	Het
Mdga2	C	A	12: 67,267,980 (GRCm39)		probably benign	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Myh6	T	C	14: 55,200,512 (GRCm39)	D203G	probably benign	Het
Myo5b	T	C	18: 74,849,108 (GRCm39)	S1116P	probably damaging	Het
Nalcn	T	A	14: 123,607,357 (GRCm39)	D704V	probably benign	Het
Nes	A	T	3: 87,878,543 (GRCm39)	M12L	probably benign	Het
Or10ak7	T	C	4: 118,791,880 (GRCm39)	D53G	probably damaging	Het
Or10al2	A	G	17: 37,983,858 (GRCm39)	T315A	probably benign	Het
Or2f1	T	A	6: 42,721,010 (GRCm39)	I13N	probably damaging	Het
Or5j3	T	A	2: 86,128,360 (GRCm39)	S67T	probably damaging	Het
Pcdha2	T	C	18: 37,074,376 (GRCm39)	V669A	probably benign	Het
Pdhx	T	C	2: 102,852,564 (GRCm39)	N433S	probably damaging	Het
Pip5kl1	A	G	2: 32,469,124 (GRCm39)	R261G	probably damaging	Het
Plekhj1	A	G	10: 80,633,609 (GRCm39)	I76T	probably damaging	Het
Ppp1r3a	A	T	6: 14,719,073 (GRCm39)	S614T	probably damaging	Het
Ptpru	T	C	4: 131,501,615 (GRCm39)	N1207S	probably damaging	Het
Ranbp2	T	C	10: 58,312,294 (GRCm39)	F1005L	probably benign	Het
Rims2	A	G	15: 39,301,241 (GRCm39)	E324G	probably damaging	Het
Sema6d	A	T	2: 124,498,770 (GRCm39)	I227L	probably benign	Het
Smarcad1	T	G	6: 65,091,320 (GRCm39)	L1014V	probably damaging	Het
Spag9	T	G	11: 93,935,305 (GRCm39)	S39A	possibly damaging	Het
Spag9	T	C	11: 93,935,243 (GRCm39)	V18A	possibly damaging	Het
Sun2	T	C	15: 79,618,356 (GRCm39)	K268E	probably benign	Het
Tbpl2	C	T	2: 23,977,151 (GRCm39)	R289Q	probably benign	Het
Tcea3	T	A	4: 135,982,454 (GRCm39)		probably benign	Het
Tmem185a	C	T	X: 69,505,792 (GRCm39)		probably null	Het
Tnrc6c	C	T	11: 117,614,355 (GRCm39)	R838W	probably damaging	Het
Vmn1r212	A	T	13: 23,067,358 (GRCm39)	V325E	unknown	Het
Vmn1r35	T	A	6: 66,656,057 (GRCm39)	R204S	probably damaging	Het
Vmn2r57	A	G	7: 41,077,554 (GRCm39)	M204T	probably damaging	Het
Wdfy3	A	T	5: 102,092,105 (GRCm39)	Y411*	probably null	Het
Zfp335	G	T	2: 164,752,620 (GRCm39)	D41E	probably damaging	Het

Other mutations in Hps6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R1845:Hps6	UTSW	19	45,993,409 (GRCm39)	missense	probably benign	0.30
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
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'- CACTTGCTGCTATTAAGACCCC -3'
(R):5'- TGTTGGTAGTAGGCACCAGG -3'

Sequencing Primer
(F):5'- CCCACAGCTTCTAGTGGC -3'
(R):5'- GGAAGAGGTCCTTGCGGG -3'

Posted On

2015-04-17