Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01335:Pacs1'

74588

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01335

Quality Score

Status

Chromosome

Chromosomal Location

5133688-5273119 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 5142632 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 624 (V624E)

Ref Sequence

ENSEMBL: ENSMUSP00000025786 (fasta)

Gene Model

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

AlphaFold

Q8K212

Predicted Effect

probably damaging
Transcript: ENSMUST00000025786
AA Change: V624E

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

SMART Domains

Protein: ENSMUSP00000025786
Gene: ENSMUSG00000024855
AA Change: V624E

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029J07Rik	A	T	8: 45,973,605		probably benign	Het
6820408C15Rik	T	A	2: 152,442,387	M300K	possibly damaging	Het
Adamts14	T	A	10: 61,198,681	R1143W	possibly damaging	Het
Ankrd28	T	C	14: 31,702,024	Y1083C	probably damaging	Het
Anxa8	T	C	14: 34,089,590	M34T	probably damaging	Het
Aox1	G	T	1: 58,082,153	E928*	probably null	Het
Atp8b5	T	A	4: 43,302,628	F50L	possibly damaging	Het
Brpf1	A	G	6: 113,319,337	S863G	probably damaging	Het
Cdc42bpb	A	G	12: 111,294,096		probably benign	Het
Cdh6	C	T	15: 13,051,309	A413T	probably benign	Het
Cfap97	A	G	8: 46,170,455	Q294R	probably damaging	Het
Cit	C	T	5: 115,908,830		probably benign	Het
Dmbt1	A	G	7: 131,088,767	Y736C	possibly damaging	Het
Eno2	C	T	6: 124,766,655	G107E	probably damaging	Het
Gja8	T	C	3: 96,919,242	Q368R	probably benign	Het
Gm3633	T	A	14: 42,640,638		probably benign	Het
Gm4987	A	T	X: 46,455,878		noncoding transcript	Het
Gna13	G	A	11: 109,365,743	R164Q	probably damaging	Het
Grhl1	A	T	12: 24,608,058	E351D	probably damaging	Het
Idua	A	G	5: 108,680,871	Q280R	probably benign	Het
Igsf5	T	A	16: 96,373,153		probably benign	Het
Mrpl52	T	C	14: 54,427,199	Y39H	probably damaging	Het
Naa16	A	T	14: 79,345,116		probably benign	Het
Naa35	T	A	13: 59,616,796	L338Q	probably damaging	Het
Nat8l	A	T	5: 33,998,447	Y149F	probably benign	Het
Nck1	A	T	9: 100,497,737	W154R	probably damaging	Het
Ncoa1	A	T	12: 4,297,520	S351R	probably benign	Het
Olfr1046	A	T	2: 86,217,572	L46Q	probably damaging	Het
Olfr1145	A	T	2: 87,810,446	T209S	probably damaging	Het
Olfr1490	A	T	19: 13,655,176	H249L	probably damaging	Het
Olfr765	T	C	10: 129,046,511	K184R	probably benign	Het
Pde6b	G	A	5: 108,423,513	R444H	probably benign	Het
Pigk	A	T	3: 152,742,536	T226S	probably benign	Het
Prkdc	T	C	16: 15,816,896		probably null	Het
Ptbp1	G	A	10: 79,862,874		probably null	Het
Pyroxd1	T	C	6: 142,361,758	V418A	probably damaging	Het
Rhot1	A	T	11: 80,250,229	D421V	probably damaging	Het
Rimkla	T	C	4: 119,477,959	T76A	possibly damaging	Het
Rtn1	A	G	12: 72,308,350	V274A	probably benign	Het
Tatdn2	T	A	6: 113,704,056	M289K	probably benign	Het
Trak1	A	G	9: 121,454,316	T476A	possibly damaging	Het
Ube2i	C	A	17: 25,269,436	Q11H	probably damaging	Het
Ugt2a3	A	T	5: 87,336,785	C127S	probably damaging	Het
Uimc1	T	A	13: 55,034,911	Q619L	probably benign	Het
Upk3a	T	A	15: 85,019,585	Y162N	probably damaging	Het
Usp33	T	C	3: 152,392,217	S849P	probably damaging	Het
Vmn2r120	G	A	17: 57,525,732	T149I	possibly damaging	Het
Vmn2r15	G	A	5: 109,286,736	P701S	possibly damaging	Het
Vmn2r28	T	C	7: 5,481,088	I704M	possibly damaging	Het
Wdhd1	T	C	14: 47,250,782	E756G	possibly damaging	Het
Xlr3c	C	A	X: 73,260,033	V102F	probably benign	Het
Zfp384	T	G	6: 125,025,053	D220E	probably benign	Het
Zfp521	A	T	18: 13,844,719	V879E	probably benign	Het

Other mutations in Pacs1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00585:Pacs1	APN	19	5153698	missense	probably damaging	0.98
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

Posted On

2013-10-07