Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00545:Hps3'

12668

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hps3

Ensembl Gene

ENSMUSG00000027615

Gene Name

HPS3, biogenesis of lysosomal organelles complex 2 subunit 1

Synonyms

Hermansky-Pudlak syndrome 3

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

IGL00545

Quality Score

Status

Chromosome

Chromosomal Location

20050109-20089478 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 20073971 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Isoleucine at position 332 (L332I)

Ref Sequence

ENSEMBL: ENSMUSP00000103957 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000012580] [ENSMUST00000108321]

AlphaFold

Q91VB4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000012580
AA Change: L464I

PolyPhen 2 Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000012580
Gene: ENSMUSG00000027615
AA Change: L464I

Domain	Start	End	E-Value	Type
Pfam:HPS3_N	3	212	2.8e-74	PFAM
Pfam:HPS3_Mid	255	640	1.3e-167	PFAM
Pfam:HPS3_C	649	1000	1.8e-175	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108321
AA Change: L332I

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103957
Gene: ENSMUSG00000027615
AA Change: L332I

Domain	Start	End	E-Value	Type
Pfam:HPS3_N	3	87	5.6e-25	PFAM
Pfam:HPS3_Mid	121	508	4.2e-161	PFAM
Pfam:HPS3_C	517	870	9.2e-199	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124808

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126644

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130171

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137408

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151752

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155121

Coding Region Coverage

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 containing a potential clathrin-binding motif, consensus dileucine signals, and tyrosine-based sorting signals for targeting to vesicles of lysosomal lineage. The encoded protein may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 3. [provided by RefSeq, Apr 2015]
PHENOTYPE: Homozygotes for spontaneous null mutations exhibit hypopigmentation and prolonged bleeding associated with a platelet defect. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 14 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34	A	T	8: 44,105,227 (GRCm39)	N139K	possibly damaging	Het
Ano10	A	G	9: 122,090,422 (GRCm39)	V105A	possibly damaging	Het
Cep44	A	T	8: 57,000,435 (GRCm39)	V26E	probably damaging	Het
Cpne8	A	G	15: 90,424,462 (GRCm39)	V309A	probably benign	Het
Dnah7a	A	G	1: 53,496,905 (GRCm39)	I3117T	possibly damaging	Het
Efna1	T	A	3: 89,180,123 (GRCm39)	N91I	probably benign	Het
Golph3	G	A	15: 12,339,757 (GRCm39)	R90H	probably damaging	Het
Marchf5	C	T	19: 37,194,624 (GRCm39)	S94L	probably benign	Het
Mrpl46	T	A	7: 78,432,724 (GRCm39)	Q18L	probably benign	Het
Nfe2l1	A	G	11: 96,708,542 (GRCm39)	V741A	probably benign	Het
Nlrp2	C	T	7: 5,331,251 (GRCm39)	A382T	possibly damaging	Het
Pdgfd	C	T	9: 6,288,621 (GRCm39)	Q92*	probably null	Het
Ubxn4	A	G	1: 128,187,202 (GRCm39)	D65G	possibly damaging	Het
Zfp119b	A	C	17: 56,246,270 (GRCm39)	H305Q	probably damaging	Het

Other mutations in Hps3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00846:Hps3	APN	3	20,079,956 (GRCm39)	missense	probably benign	0.00
IGL01320:Hps3	APN	3	20,084,633 (GRCm39)	missense	probably benign	0.12
IGL01364:Hps3	APN	3	20,057,469 (GRCm39)	missense	possibly damaging	0.58
IGL01751:Hps3	APN	3	20,065,130 (GRCm39)	missense	probably damaging	1.00
IGL01843:Hps3	APN	3	20,083,165 (GRCm39)	missense	probably benign	0.05
IGL02294:Hps3	APN	3	20,068,212 (GRCm39)	missense	probably damaging	1.00
IGL02581:Hps3	APN	3	20,057,385 (GRCm39)	intron	probably benign
Blue	UTSW	3	20,084,960 (GRCm39)	missense	probably damaging	1.00
earl_grey	UTSW	3	20,017,173 (GRCm38)	intron	probably benign
gandalf	UTSW	3	20,066,960 (GRCm39)	nonsense	probably null
pam_gray	UTSW	3	20,017,173 (GRCm38)	intron	probably benign
R0107:Hps3	UTSW	3	20,084,960 (GRCm39)	missense	probably damaging	1.00
R0245:Hps3	UTSW	3	20,066,960 (GRCm39)	nonsense	probably null
R0421:Hps3	UTSW	3	20,083,480 (GRCm39)	missense	probably benign	0.00
R0524:Hps3	UTSW	3	20,066,940 (GRCm39)	missense	probably damaging	1.00
R0763:Hps3	UTSW	3	20,057,443 (GRCm39)	missense	probably damaging	1.00
R1795:Hps3	UTSW	3	20,066,859 (GRCm39)	critical splice donor site	probably null
R1864:Hps3	UTSW	3	20,074,123 (GRCm39)	critical splice acceptor site	probably null
R2029:Hps3	UTSW	3	20,084,691 (GRCm39)	missense	probably benign	0.01
R2101:Hps3	UTSW	3	20,066,947 (GRCm39)	missense	possibly damaging	0.95
R2221:Hps3	UTSW	3	20,056,527 (GRCm39)	missense	probably benign
R2268:Hps3	UTSW	3	20,067,099 (GRCm39)	splice site	probably benign
R2520:Hps3	UTSW	3	20,083,194 (GRCm39)	missense	probably damaging	1.00
R3809:Hps3	UTSW	3	20,072,976 (GRCm39)	missense	probably damaging	1.00
R3888:Hps3	UTSW	3	20,057,387 (GRCm39)	critical splice donor site	probably null
R3942:Hps3	UTSW	3	20,051,103 (GRCm39)	missense	probably damaging	1.00
R4022:Hps3	UTSW	3	20,089,425 (GRCm39)	missense	possibly damaging	0.69
R4156:Hps3	UTSW	3	20,083,393 (GRCm39)	missense	probably damaging	1.00
R4739:Hps3	UTSW	3	20,084,574 (GRCm39)	critical splice acceptor site	probably null
R4823:Hps3	UTSW	3	20,066,890 (GRCm39)	missense	probably benign	0.03
R4912:Hps3	UTSW	3	20,068,337 (GRCm39)	missense	probably damaging	1.00
R5307:Hps3	UTSW	3	20,066,865 (GRCm39)	missense	possibly damaging	0.89
R5859:Hps3	UTSW	3	20,063,034 (GRCm39)	missense	probably benign	0.02
R6140:Hps3	UTSW	3	20,051,151 (GRCm39)	missense	probably damaging	1.00
R6183:Hps3	UTSW	3	20,063,032 (GRCm39)	missense	probably benign	0.04
R6971:Hps3	UTSW	3	20,065,699 (GRCm39)	missense	probably damaging	1.00
R6981:Hps3	UTSW	3	20,076,984 (GRCm39)	missense	probably damaging	1.00
R7120:Hps3	UTSW	3	20,065,705 (GRCm39)	missense	probably damaging	1.00
R7146:Hps3	UTSW	3	20,063,050 (GRCm39)	missense	probably damaging	1.00
R7223:Hps3	UTSW	3	20,084,583 (GRCm39)	missense	probably benign	0.05
R7448:Hps3	UTSW	3	20,089,329 (GRCm39)	missense	probably damaging	0.99
R7452:Hps3	UTSW	3	20,065,592 (GRCm39)	missense	probably damaging	1.00
R7560:Hps3	UTSW	3	20,084,616 (GRCm39)	missense	probably benign	0.29
R7659:Hps3	UTSW	3	20,076,978 (GRCm39)	nonsense	probably null
R7769:Hps3	UTSW	3	20,072,972 (GRCm39)	splice site	probably null
R8050:Hps3	UTSW	3	20,057,492 (GRCm39)	missense	probably benign
R8242:Hps3	UTSW	3	20,068,290 (GRCm39)	missense	possibly damaging	0.59
R8802:Hps3	UTSW	3	20,074,070 (GRCm39)	missense	probably damaging	1.00
R8822:Hps3	UTSW	3	20,057,391 (GRCm39)	missense	probably benign
R8945:Hps3	UTSW	3	20,068,224 (GRCm39)	missense	probably damaging	0.99
R9111:Hps3	UTSW	3	20,084,575 (GRCm39)	critical splice acceptor site	probably null
R9131:Hps3	UTSW	3	20,083,350 (GRCm39)	missense	probably damaging	0.98
R9645:Hps3	UTSW	3	20,084,831 (GRCm39)	missense	probably benign	0.01
R9728:Hps3	UTSW	3	20,065,128 (GRCm39)	missense	probably benign	0.06
X0021:Hps3	UTSW	3	20,084,913 (GRCm39)	missense	probably benign	0.14
X0066:Hps3	UTSW	3	20,070,152 (GRCm39)	missense	probably damaging	1.00
Z1177:Hps3	UTSW	3	20,063,065 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-12-06