Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00585:Pacs1'

12894

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pacs1

Ensembl Gene

ENSMUSG00000024855

Gene Name

phosphofurin acidic cluster sorting protein 1

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00585

Quality Score

Status

Chromosome

Chromosomal Location

5133688-5273119 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 5153698 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 333 (V333E)

Ref Sequence

ENSEMBL: ENSMUSP00000025786 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025786]

AlphaFold

Q8K212

Predicted Effect

probably damaging
Transcript: ENSMUST00000025786
AA Change: V333E

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000025786
Gene: ENSMUSG00000024855
AA Change: V333E

Domain	Start	End	E-Value	Type
low complexity region	5	24	N/A	INTRINSIC
low complexity region	27	46	N/A	INTRINSIC
low complexity region	51	97	N/A	INTRINSIC
low complexity region	276	290	N/A	INTRINSIC
low complexity region	306	320	N/A	INTRINSIC
low complexity region	359	372	N/A	INTRINSIC
Pfam:Pacs-1	546	958	2e-193	PFAM

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 with a putative role in the localization of trans-Golgi network (TGN) membrane proteins. Mouse and rat homologs have been identified and studies of the homologous rat protein indicate a role in directing TGN localization of furin by binding to the protease's phosphorylated cytosolic domain. In addition, the human protein plays a role in HIV-1 Nef-mediated downregulation of cell surface MHC-I molecules to the TGN, thereby enabling HIV-1 to escape immune surveillance. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	A	17: 24,300,320	I664F	probably damaging	Het
Abcg4	A	T	9: 44,281,623	M142K	probably benign	Het
Afdn	A	G	17: 13,884,628	T1198A	probably damaging	Het
Angptl2	T	C	2: 33,246,227	S475P	probably damaging	Het
Ap3s2	T	C	7: 79,916,076	E34G	probably benign	Het
C1qtnf9	T	C	14: 60,779,993	F324S	probably damaging	Het
Cacng7	A	G	7: 3,366,031	Y170C	probably damaging	Het
Ceacam18	G	A	7: 43,637,011	V103M	possibly damaging	Het
Chrnb1	G	A	11: 69,793,916	P144S	probably damaging	Het
Chuk	T	C	19: 44,078,312	H652R	probably damaging	Het
Ckap5	C	T	2: 91,619,825	L1948F	probably damaging	Het
Clstn1	A	T	4: 149,638,312	H469L	probably benign	Het
Csf2rb2	C	T	15: 78,284,847	G594S	possibly damaging	Het
Ctsq	A	T	13: 61,037,127	D248E	probably benign	Het
Ep400	A	T	5: 110,755,905	I276K	possibly damaging	Het
Gbf1	G	A	19: 46,284,249		probably null	Het
Gldn	T	A	9: 54,338,464	I433N	probably damaging	Het
Gm136	T	A	4: 34,752,322	E69V	probably damaging	Het
Gm28177	T	C	1: 52,082,579		probably null	Het
Gtf2h2	A	G	13: 100,480,998		probably benign	Het
Ints12	T	C	3: 133,100,809		probably null	Het
Ltbp4	T	C	7: 27,326,733	D615G	probably damaging	Het
Mgme1	C	T	2: 144,271,989	P4S	probably benign	Het
Nae1	A	G	8: 104,526,278		probably null	Het
Nup133	G	A	8: 123,909,994	A956V	probably damaging	Het
Oacyl	T	A	18: 65,749,640	M529K	possibly damaging	Het
Osbpl1a	T	A	18: 12,757,626	E519V	possibly damaging	Het
Pik3c3	T	G	18: 30,303,078		probably benign	Het
Polh	C	T	17: 46,172,243		probably benign	Het
Ppp6r3	A	G	19: 3,490,826	C431R	probably damaging	Het
Pprc1	T	C	19: 46,062,648	S206P	possibly damaging	Het
Rab20	A	G	8: 11,454,212	Y163H	probably benign	Het
Sde2	T	A	1: 180,855,818	C46S	possibly damaging	Het
Serpinb1c	T	C	13: 32,883,975	K213E	probably damaging	Het
Spata20	T	G	11: 94,479,117	L784F	probably damaging	Het
Tnnt1	A	C	7: 4,507,550	M224R	possibly damaging	Het
Trank1	T	C	9: 111,349,290	F349L	possibly damaging	Het
Ttf1	T	C	2: 29,073,883		probably benign	Het
Usp54	T	A	14: 20,573,837	S651C	probably damaging	Het
Vps45	A	G	3: 96,000,066	*571R	probably null	Het
Yod1	G	A	1: 130,719,133	G249E	probably damaging	Het
Ythdc2	A	G	18: 44,864,361	Y340C	probably damaging	Het
Zfp366	G	A	13: 99,246,572		probably benign	Het
Zfp648	T	A	1: 154,204,189	D31E	possibly damaging	Het

Other mutations in Pacs1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01335:Pacs1	APN	19	5142632	missense	probably damaging	1.00
IGL01717:Pacs1	APN	19	5167972	missense	probably damaging	1.00
IGL02453:Pacs1	APN	19	5135005	missense	probably damaging	1.00
IGL02887:Pacs1	APN	19	5135110	splice site	probably benign
Batavian	UTSW	19	5156413	missense	possibly damaging	0.71
chicory	UTSW	19	5139297	missense	probably benign	0.33
endive	UTSW	19	5272583	nonsense	probably null
Escarole	UTSW	19	5156356	critical splice donor site	probably null
frisee	UTSW	19	5136791	missense	probably damaging	1.00
R0240:Pacs1	UTSW	19	5156374	missense	possibly damaging	0.69
R0240:Pacs1	UTSW	19	5156374	missense	possibly damaging	0.69
R0316:Pacs1	UTSW	19	5135121	splice site	silent
R0369:Pacs1	UTSW	19	5141698	missense	probably damaging	1.00
R0443:Pacs1	UTSW	19	5272583	nonsense	probably null
R0973:Pacs1	UTSW	19	5143829	missense	probably damaging	1.00
R0973:Pacs1	UTSW	19	5143829	missense	probably damaging	1.00
R0974:Pacs1	UTSW	19	5143829	missense	probably damaging	1.00
R1202:Pacs1	UTSW	19	5135237	missense	probably damaging	1.00
R1672:Pacs1	UTSW	19	5152309	missense	probably benign	0.00
R1689:Pacs1	UTSW	19	5272615	unclassified	probably benign
R1842:Pacs1	UTSW	19	5155884	missense	probably damaging	0.96
R1847:Pacs1	UTSW	19	5153714	missense	probably damaging	0.99
R3884:Pacs1	UTSW	19	5155759	missense	probably damaging	0.99
R4577:Pacs1	UTSW	19	5143833	nonsense	probably null
R4630:Pacs1	UTSW	19	5156356	critical splice donor site	probably null
R5029:Pacs1	UTSW	19	5142271	missense	probably benign	0.03
R5198:Pacs1	UTSW	19	5139297	missense	probably benign	0.33
R5223:Pacs1	UTSW	19	5145141	missense	probably benign	0.00
R5464:Pacs1	UTSW	19	5147207	missense	probably benign
R5695:Pacs1	UTSW	19	5136791	missense	probably damaging	1.00
R6128:Pacs1	UTSW	19	5152372	splice site	probably null
R6335:Pacs1	UTSW	19	5159977	missense	probably damaging	1.00
R6802:Pacs1	UTSW	19	5152784	missense	probably damaging	0.99
R6831:Pacs1	UTSW	19	5160795	missense	probably damaging	1.00
R7071:Pacs1	UTSW	19	5156374	missense	possibly damaging	0.69
R7200:Pacs1	UTSW	19	5156413	missense	possibly damaging	0.71
R7248:Pacs1	UTSW	19	5138975	missense	probably damaging	1.00
R7576:Pacs1	UTSW	19	5145120	missense	probably benign	0.09
R7682:Pacs1	UTSW	19	5152699	missense	probably damaging	0.99
R7715:Pacs1	UTSW	19	5141681	missense	probably benign	0.01
R7738:Pacs1	UTSW	19	5152350	missense	probably benign	0.11
R8339:Pacs1	UTSW	19	5142623	missense	probably damaging	1.00
R8930:Pacs1	UTSW	19	5135002	missense	probably damaging	1.00
R8932:Pacs1	UTSW	19	5135002	missense	probably damaging	1.00
R9043:Pacs1	UTSW	19	5138936	missense	probably benign	0.23
R9211:Pacs1	UTSW	19	5139029	missense	probably damaging	0.99
R9459:Pacs1	UTSW	19	5145070	critical splice donor site	probably null
R9584:Pacs1	UTSW	19	5272594	missense	probably benign
R9608:Pacs1	UTSW	19	5143834	missense	probably damaging	1.00
R9732:Pacs1	UTSW	19	5134969	missense	probably damaging	1.00

Posted On

2012-12-06