Mutagenetix > Incidental Mutation

Incidental Mutation 'R2010:Hps4'

219457

Institutional Source

Beutler Lab

Gene Symbol

Hps4

Ensembl Gene

ENSMUSG00000042328

Gene Name

HPS4, biogenesis of lysosomal organelles complex 3 subunit 2

Synonyms

BLOC-3, 2010205O06Rik, Hermansky-Pudlak syndrome 4, C130020P05Rik

MMRRC Submission

040019-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.272) question?

Stock #

R2010 (G1)

Quality Score

212

Status

Not validated

Chromosome

Chromosomal Location

112490949-112526280 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 112517342 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 243 (V243E)

Ref Sequence

ENSEMBL: ENSMUSP00000107978 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035279] [ENSMUST00000112359]

AlphaFold

Q99KG7

Predicted Effect

probably damaging
Transcript: ENSMUST00000035279
AA Change: V243E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000047920
Gene: ENSMUSG00000042328
AA Change: V243E

Domain	Start	End	E-Value	Type
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 damaging
Transcript: ENSMUST00000112359
AA Change: V243E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107978
Gene: ENSMUSG00000042328
AA Change: V243E

Domain	Start	End	E-Value	Type
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: ENSMUST00000129839

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133708

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176660

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196925

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199500

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 92.6%

Validation Efficiency

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810062G17Rik	G	A	3: 36,535,955 (GRCm39)	G74S	unknown	Het
Aimp1	A	T	3: 132,373,253 (GRCm39)	L229Q	probably benign	Het
Arhgef6	T	C	X: 56,344,865 (GRCm39)	T52A	possibly damaging	Het
Aste1	C	A	9: 105,280,701 (GRCm39)	H25Q	probably damaging	Het
Atp13a1	G	A	8: 70,244,010 (GRCm39)	G36R	possibly damaging	Het
Bahcc1	T	C	11: 120,163,604 (GRCm39)	V634A	probably damaging	Het
Bltp1	T	G	3: 36,982,700 (GRCm39)	N788K	probably benign	Het
C1s1	A	T	6: 124,514,353 (GRCm39)	Y168N	probably damaging	Het
Camsap2	T	C	1: 136,202,606 (GRCm39)	S612G	probably damaging	Het
Cdh23	C	A	10: 60,150,006 (GRCm39)	R2611L	probably damaging	Het
Cfap20dc	A	T	14: 8,511,021 (GRCm38)	F464L	probably damaging	Het
Cilp2	A	G	8: 70,334,344 (GRCm39)	Y885H	probably damaging	Het
Dhrs3	C	T	4: 144,653,758 (GRCm39)	T227I	possibly damaging	Het
Dnah2	A	T	11: 69,349,184 (GRCm39)		probably null	Het
Dnah3	T	G	7: 119,694,400 (GRCm39)	M1L	probably benign	Het
Ehbp1l1	A	G	19: 5,769,311 (GRCm39)	I664T	probably benign	Het
Eif4e	C	T	3: 138,261,219 (GRCm39)	T171I	probably benign	Het
Elfn1	C	T	5: 139,959,071 (GRCm39)	R692W	probably damaging	Het
Eps8l3	T	A	3: 107,786,688 (GRCm39)	M1K	probably null	Het
Evi5	C	A	5: 107,961,411 (GRCm39)		probably null	Het
Fancd2	A	T	6: 113,570,252 (GRCm39)	D1401V	probably damaging	Het
Fat2	G	A	11: 55,144,653 (GRCm39)	R4074C	probably damaging	Het
Fkbp4	A	T	6: 128,412,765 (GRCm39)	V55E	probably benign	Het
Fnip1	A	G	11: 54,373,329 (GRCm39)	D180G	probably damaging	Het
Galc	A	G	12: 98,220,489 (GRCm39)	F126S	possibly damaging	Het
Gdf7	C	T	12: 8,351,729 (GRCm39)	V69M	unknown	Het
Glis2	A	G	16: 4,426,575 (GRCm39)	E22G	probably damaging	Het
H2bc3	G	A	13: 23,931,111 (GRCm39)	V112M	possibly damaging	Het
Ighe	T	A	12: 113,235,108 (GRCm39)	I351F	unknown	Het
Irak4	A	T	15: 94,449,687 (GRCm39)	R55S	probably damaging	Het
Itpr2	G	A	6: 146,129,022 (GRCm39)		probably null	Het
Katnip	A	G	7: 125,472,128 (GRCm39)	I1544M	possibly damaging	Het
Kirrel3	T	C	9: 34,850,494 (GRCm39)	Y41H	probably damaging	Het
Krr1	A	G	10: 111,811,474 (GRCm39)	E56G	possibly damaging	Het
Lgi1	G	A	19: 38,289,683 (GRCm39)	V250I	probably damaging	Het
Lipf	A	G	19: 33,950,946 (GRCm39)	N306D	probably benign	Het
Lman2l	C	T	1: 36,484,262 (GRCm39)	W18*	probably null	Het
Lztfl1	T	A	9: 123,531,251 (GRCm39)	N239I	possibly damaging	Het
Mief1	T	C	15: 80,132,126 (GRCm39)	S66P	possibly damaging	Het
Mmp8	C	A	9: 7,567,535 (GRCm39)	S465*	probably null	Het
Muc2	A	T	7: 141,287,444 (GRCm39)	T208S	probably damaging	Het
Myh8	A	T	11: 67,187,990 (GRCm39)	K921*	probably null	Het
Myh9	T	C	15: 77,656,147 (GRCm39)	E1121G	probably benign	Het
Nbn	T	C	4: 15,969,393 (GRCm39)	S213P	probably damaging	Het
Nol10	A	G	12: 17,466,102 (GRCm39)	E499G	probably benign	Het
Nxn	T	C	11: 76,289,627 (GRCm39)	E87G	probably damaging	Het
Or14c40	A	G	7: 86,313,811 (GRCm39)	T314A	probably benign	Het
Or51f2	T	A	7: 102,526,892 (GRCm39)	C188*	probably null	Het
Or8g23	T	C	9: 38,971,395 (GRCm39)	H189R	probably benign	Het
Pds5b	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	5: 150,698,819 (GRCm39)		probably benign	Het
Pigk	A	G	3: 152,472,151 (GRCm39)	I354M	probably damaging	Het
Pigl	T	A	11: 62,349,508 (GRCm39)	C75S	probably damaging	Het
Pm20d1	T	A	1: 131,739,852 (GRCm39)	I400N	probably benign	Het
Prkg2	T	A	5: 99,172,664 (GRCm39)	H17L	probably benign	Het
Psmd1	T	A	1: 86,003,719 (GRCm39)	L168Q	probably damaging	Het
Rab3gap2	A	T	1: 185,010,478 (GRCm39)	H1136L	possibly damaging	Het
Rb1	T	C	14: 73,532,433 (GRCm39)	T134A	probably benign	Het
Rims1	T	C	1: 22,367,220 (GRCm39)	E1024G	probably damaging	Het
Rrp12	A	G	19: 41,861,376 (GRCm39)	V977A	probably benign	Het
Rusc2	C	T	4: 43,415,212 (GRCm39)	P173S	probably benign	Het
Selenov	A	T	7: 27,987,447 (GRCm39)	D310E	probably damaging	Het
Serpina3f	T	A	12: 104,183,582 (GRCm39)	L148Q	probably damaging	Het
Slc10a1	C	T	12: 81,007,221 (GRCm39)	V187I	probably benign	Het
Spsb2	A	G	6: 124,787,339 (GRCm39)	K258E	probably damaging	Het
Tas2r105	A	C	6: 131,664,365 (GRCm39)	V21G	probably benign	Het
Tmem229b-ps	T	A	10: 53,351,295 (GRCm39)		noncoding transcript	Het
Tnrc6a	C	G	7: 122,770,269 (GRCm39)	H686Q	probably benign	Het
Trpc2	T	A	7: 101,743,780 (GRCm39)	F715L	probably benign	Het
Ube2t	T	A	1: 134,897,036 (GRCm39)	I56N	probably benign	Het
Ubr4	T	C	4: 139,207,963 (GRCm39)	Y4915H	possibly damaging	Het
Usp32	T	A	11: 84,930,830 (GRCm39)	E533D	probably damaging	Het
Vipr2	T	G	12: 116,086,430 (GRCm39)		probably null	Het
Vmn1r15	A	G	6: 57,235,269 (GRCm39)	T46A	probably benign	Het
Vmn1r203	T	G	13: 22,708,617 (GRCm39)	S133A	possibly damaging	Het
Vmn1r215	T	G	13: 23,260,378 (GRCm39)	N139K	probably damaging	Het
Vmn1r232	C	T	17: 21,133,601 (GRCm39)	R333H	probably benign	Het
Wdr20rt	C	A	12: 65,273,988 (GRCm39)	H311N	possibly damaging	Het
Zranb1	T	C	7: 132,568,425 (GRCm39)		probably null	Het

Other mutations in Hps4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01485:Hps4	APN	5	112,512,377 (GRCm39)	splice site	probably benign
IGL02331:Hps4	APN	5	112,517,402 (GRCm39)	missense	probably benign	0.03
IGL02410:Hps4	APN	5	112,518,093 (GRCm39)	missense	probably benign	0.07
IGL02821:Hps4	APN	5	112,523,307 (GRCm39)	missense	probably benign	0.02
R0748:Hps4	UTSW	5	112,522,780 (GRCm39)	missense	probably damaging	1.00
R1487:Hps4	UTSW	5	112,525,865 (GRCm39)	nonsense	probably null
R1891:Hps4	UTSW	5	112,517,422 (GRCm39)	splice site	probably null
R2305:Hps4	UTSW	5	112,494,527 (GRCm39)	missense	probably damaging	0.99
R3196:Hps4	UTSW	5	112,512,429 (GRCm39)	missense	probably damaging	1.00
R4274:Hps4	UTSW	5	112,522,896 (GRCm39)	intron	probably benign
R4878:Hps4	UTSW	5	112,523,234 (GRCm39)	missense	probably benign	0.12
R4988:Hps4	UTSW	5	112,526,019 (GRCm39)	utr 3 prime	probably benign
R5843:Hps4	UTSW	5	112,497,296 (GRCm39)	critical splice donor site	probably null
R5896:Hps4	UTSW	5	112,517,351 (GRCm39)	missense	probably benign	0.02
R6318:Hps4	UTSW	5	112,494,495 (GRCm39)	missense	probably damaging	1.00
R7381:Hps4	UTSW	5	112,523,324 (GRCm39)	missense	possibly damaging	0.86
R7781:Hps4	UTSW	5	112,518,388 (GRCm39)	missense	probably benign	0.14
R8112:Hps4	UTSW	5	112,517,977 (GRCm39)	missense	probably benign	0.17
R8996:Hps4	UTSW	5	112,525,905 (GRCm39)	missense	possibly damaging	0.81
R9058:Hps4	UTSW	5	112,525,905 (GRCm39)	missense	possibly damaging	0.81
R9059:Hps4	UTSW	5	112,525,905 (GRCm39)	missense	possibly damaging	0.81
R9060:Hps4	UTSW	5	112,525,905 (GRCm39)	missense	possibly damaging	0.81
R9103:Hps4	UTSW	5	112,525,905 (GRCm39)	missense	possibly damaging	0.81
R9105:Hps4	UTSW	5	112,525,905 (GRCm39)	missense	possibly damaging	0.81
R9106:Hps4	UTSW	5	112,525,905 (GRCm39)	missense	possibly damaging	0.81
R9175:Hps4	UTSW	5	112,525,905 (GRCm39)	missense	possibly damaging	0.81
R9210:Hps4	UTSW	5	112,497,227 (GRCm39)	missense	possibly damaging	0.78
R9226:Hps4	UTSW	5	112,525,905 (GRCm39)	missense	possibly damaging	0.81
R9227:Hps4	UTSW	5	112,525,905 (GRCm39)	missense	possibly damaging	0.81
R9229:Hps4	UTSW	5	112,525,905 (GRCm39)	missense	possibly damaging	0.81
R9230:Hps4	UTSW	5	112,525,905 (GRCm39)	missense	possibly damaging	0.81
R9232:Hps4	UTSW	5	112,525,905 (GRCm39)	missense	possibly damaging	0.81
R9233:Hps4	UTSW	5	112,525,905 (GRCm39)	missense	possibly damaging	0.81
R9234:Hps4	UTSW	5	112,525,905 (GRCm39)	missense	possibly damaging	0.81
R9236:Hps4	UTSW	5	112,525,905 (GRCm39)	missense	possibly damaging	0.81
R9330:Hps4	UTSW	5	112,525,905 (GRCm39)	missense	possibly damaging	0.81
R9459:Hps4	UTSW	5	112,522,875 (GRCm39)	missense	probably benign	0.30
Z1177:Hps4	UTSW	5	112,518,243 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTGGTCGAGTCCTTAGCAAG -3'
(R):5'- TGGGTCTCACACTATGCTTG -3'

Sequencing Primer
(F):5'- TCGAGTCCTTAGCAAGCTGGAAAC -3'
(R):5'- TGCTGTATGCCCTGATGCCAG -3'

Posted On

2014-08-25