Mutagenetix > Incidental Mutation

Incidental Mutation 'R8112:Hps4'

630918

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

067541-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.292) question?

Stock #

R8112 (G1)

Quality Score

166.009

Status

Not validated

Chromosome

Chromosomal Location

112490949-112526280 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 112517977 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tryptophan at position 323 (C323W)

Ref Sequence

ENSEMBL: ENSMUSP00000047920 (fasta)

Gene Model

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

AlphaFold

Q99KG7

Predicted Effect

probably benign
Transcript: ENSMUST00000035279
AA Change: C323W

PolyPhen 2 Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000047920
Gene: ENSMUSG00000042328
AA Change: C323W

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 benign
Transcript: ENSMUST00000112359
AA Change: C323W

PolyPhen 2 Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000107978
Gene: ENSMUSG00000042328
AA Change: C323W

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

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.5%
20x: 95.0%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,264,624 (GRCm39)	V3002A	probably benign	Het
Aifm3	T	C	16: 17,320,804 (GRCm39)	V422A	probably damaging	Het
Alx3	G	T	3: 107,512,300 (GRCm39)	E313*	probably null	Het
Arfgef3	A	G	10: 18,528,379 (GRCm39)	V336A	possibly damaging	Het
Art5	A	T	7: 101,747,218 (GRCm39)	V187E	probably benign	Het
Atxn1	A	G	13: 45,721,433 (GRCm39)	V154A	probably benign	Het
B3galt1	A	G	2: 67,948,702 (GRCm39)	D139G	probably damaging	Het
Cbx5	A	G	15: 103,108,171 (GRCm39)	V158A	probably benign	Het
Cdca7l	T	C	12: 117,840,779 (GRCm39)		probably null	Het
Cecr2	T	C	6: 120,739,175 (GRCm39)	S1301P	probably benign	Het
Chmp3	T	A	6: 71,538,012 (GRCm39)	S80T	probably benign	Het
Cyp2g1	T	A	7: 26,518,886 (GRCm39)	D427E	probably benign	Het
Depdc5	G	A	5: 33,126,050 (GRCm39)	V1199I	possibly damaging	Het
Efcab3	T	C	11: 104,841,026 (GRCm39)	V3643A	unknown	Het
Ehmt1	G	T	2: 24,753,396 (GRCm39)	L335M	probably damaging	Het
Elfn2	A	G	15: 78,557,635 (GRCm39)	V304A	probably damaging	Het
Emc1	C	T	4: 139,094,498 (GRCm39)	R684W	probably benign	Het
Eme2	A	T	17: 25,113,809 (GRCm39)	V72E	probably damaging	Het
Gen1	T	A	12: 11,304,374 (GRCm39)	K230*	probably null	Het
Gfap	T	A	11: 102,787,928 (GRCm39)	I6F	probably benign	Het
Grid2	T	C	6: 63,885,891 (GRCm39)	S96P	probably damaging	Het
H2-M2	A	G	17: 37,794,383 (GRCm39)	L13P	unknown	Het
Ing3	A	G	6: 21,952,181 (GRCm39)	K52E	probably damaging	Het
Ippk	C	T	13: 49,599,818 (GRCm39)	P226S		Het
Klhl3	C	T	13: 58,161,677 (GRCm39)	V473M	possibly damaging	Het
Krt4	T	A	15: 101,828,724 (GRCm39)	N380I	probably damaging	Het
Lrp1	A	T	10: 127,441,715 (GRCm39)	C174S	probably damaging	Het
Lrrc8e	T	C	8: 4,285,575 (GRCm39)	I600T	probably benign	Het
Malt1	T	C	18: 65,582,680 (GRCm39)		probably null	Het
Mindy1	T	C	3: 95,202,122 (GRCm39)	L333P	probably damaging	Het
Mrgprb1	A	G	7: 48,097,682 (GRCm39)	S77P	probably damaging	Het
Mtus2	G	T	5: 148,013,713 (GRCm39)	E169*	probably null	Het
Muc5b	A	G	7: 141,415,765 (GRCm39)	T2904A	possibly damaging	Het
Noxa1	C	T	2: 24,982,553 (GRCm39)		probably null	Het
Ogfod3	G	A	11: 121,095,376 (GRCm39)	R5W	probably damaging	Het
Or4f59	T	A	2: 111,872,982 (GRCm39)	I132F	probably damaging	Het
Or7g35	T	A	9: 19,496,020 (GRCm39)	F62L	probably benign	Het
Or9i16	A	G	19: 13,864,753 (GRCm39)	S274P	probably damaging	Het
Pgm3	C	A	9: 86,446,828 (GRCm39)	R230L	probably benign	Het
Plpbp	A	G	8: 27,536,069 (GRCm39)	I121V	unknown	Het
Prl8a9	T	C	13: 27,743,355 (GRCm39)	D150G	probably benign	Het
Psapl1	A	G	5: 36,362,919 (GRCm39)	N504D	probably benign	Het
Ptchd4	A	C	17: 42,814,066 (GRCm39)	N656H	probably benign	Het
Ptprs	A	T	17: 56,741,532 (GRCm39)	Y577*	probably null	Het
Rasgef1c	A	G	11: 49,858,228 (GRCm39)	Y263C	probably damaging	Het
Rinl	A	G	7: 28,490,014 (GRCm39)		probably null	Het
Scd4	T	C	19: 44,325,945 (GRCm39)	F100L	probably benign	Het
Scgb2b20	T	G	7: 33,063,969 (GRCm39)	R100S	probably benign	Het
Scn8a	C	T	15: 100,927,718 (GRCm39)	A1399V	probably benign	Het
Slc22a7	A	G	17: 46,747,756 (GRCm39)	V267A	probably benign	Het
Slc7a11	T	C	3: 50,372,440 (GRCm39)	E263G	possibly damaging	Het
Slmap	A	G	14: 26,143,703 (GRCm39)	L728P	probably damaging	Het
Smarcb1	A	T	10: 75,745,986 (GRCm39)		probably null	Het
Sspn	T	C	6: 145,901,361 (GRCm39)	V80A	possibly damaging	Het
Tasor2	A	T	13: 3,619,516 (GRCm39)	D2238E	probably damaging	Het
Terb1	T	C	8: 105,195,399 (GRCm39)	T581A	probably benign	Het
Themis	A	G	10: 28,673,502 (GRCm39)	*596W	probably null	Het
Thoc2l	T	C	5: 104,669,501 (GRCm39)	F1341S	probably benign	Het
Trac	T	C	14: 54,460,557 (GRCm39)		probably benign	Het
Trim37	T	C	11: 87,109,093 (GRCm39)	F940S	possibly damaging	Het
Trpa1	T	C	1: 14,974,490 (GRCm39)	T231A	probably benign	Het
Ttn	T	C	2: 76,580,529 (GRCm39)	I23455V	probably benign	Het
Wap	G	T	11: 6,586,724 (GRCm39)	T125K	probably benign	Het
Wdfy4	G	A	14: 32,826,072 (GRCm39)	P1193L		Het
Zfp85	T	C	13: 67,896,893 (GRCm39)	D393G	possibly damaging	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
R2010:Hps4	UTSW	5	112,517,342 (GRCm39)	missense	probably damaging	1.00
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
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'- TTTGTTTGCCAGACTCCAGG -3'
(R):5'- TGCAAATGGCTGTGTCTTCAGG -3'

Sequencing Primer
(F):5'- CAGACTCCAGGGAAGTTCAGTTC -3'
(R):5'- CAAATGGCTGTGTCTTCAGGTAGAG -3'

Posted On

2020-06-30