Mutagenetix > Incidental Mutation

Incidental Mutation 'R7715:Pacs1'

594887

Institutional Source

Beutler Lab

Gene Symbol

Pacs1

Ensembl Gene

ENSMUSG00000024855

Gene Name

phosphofurin acidic cluster sorting protein 1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7715 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5133688-5273119 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 5141681 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 709 (M709I)

Ref Sequence

ENSEMBL: ENSMUSP00000025786 (fasta)

Gene Model

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

AlphaFold

Q8K212

Predicted Effect

probably benign
Transcript: ENSMUST00000025786
AA Change: M709I

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000025786
Gene: ENSMUSG00000024855
AA Change: M709I

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (67/68)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019A02Rik	A	G	1: 53,182,500	F57L	probably benign	Het
Agl	C	T	3: 116,758,256	R563Q		Het
Ahctf1	A	G	1: 179,770,848	M919T	probably benign	Het
Ano4	A	T	10: 88,995,311	N483K	probably damaging	Het
Armt1	A	G	10: 4,450,751	K166R	probably benign	Het
Asgr2	T	C	11: 70,096,895	V73A	probably benign	Het
Atp6v0a2	A	C	5: 124,714,198	T564P	probably damaging	Het
B3gntl1	T	C	11: 121,639,796	T150A	possibly damaging	Het
Bach1	A	G	16: 87,719,971	I467V	possibly damaging	Het
Bicd1	A	G	6: 149,512,973	K395E	probably benign	Het
C330027C09Rik	A	T	16: 49,013,984	Q643L	probably damaging	Het
Cadps	G	A	14: 12,457,762	P1040S	probably benign	Het
Calcoco2	TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 96,100,036		probably null	Het
Canx	A	G	11: 50,310,804	S80P	probably benign	Het
Ccdc149	T	A	5: 52,404,191		probably null	Het
Cd34	A	T	1: 194,949,316	N87Y	probably damaging	Het
Cdh11	T	A	8: 102,664,714	I297F	possibly damaging	Het
Col14a1	A	G	15: 55,487,983	I1569V	unknown	Het
Cxcr4	C	T	1: 128,589,742	V61M	probably damaging	Het
Cyp20a1	G	A	1: 60,372,605	V271M	probably benign	Het
Cyp2b23	T	C	7: 26,681,695	Y79C	probably benign	Het
Daam1	A	G	12: 71,988,901	K957E	probably benign	Het
Dip2c	A	G	13: 9,614,391	K947E	probably damaging	Het
Efcab12	T	C	6: 115,823,543	K173R	possibly damaging	Het
Emc1	C	T	4: 139,371,623	R806C	probably damaging	Het
Epg5	G	A	18: 77,968,586	R816Q	probably damaging	Het
Faf1	G	T	4: 109,710,814	D24Y	probably damaging	Het
Fchsd1	A	T	18: 37,966,642		probably null	Het
Foxp1	T	C	6: 98,945,660	T404A	unknown	Het
Fra10ac1	T	C	19: 38,189,838	E299G	probably damaging	Het
Gon4l	A	G	3: 88,908,006	T1959A	probably benign	Het
Gpam	A	C	19: 55,088,921	V146G	probably benign	Het
Hephl1	T	A	9: 15,060,785	D953V	probably benign	Het
Kcnc2	G	T	10: 112,271,940	E79*	probably null	Het
Kcnj12	T	A	11: 61,066,952		probably null	Het
Llgl2	A	T	11: 115,849,728	T417S	probably benign	Het
Lrrc17	A	T	5: 21,561,080	N187Y	probably damaging	Het
Macc1	C	T	12: 119,446,256	A253V	possibly damaging	Het
Mark1	A	G	1: 184,907,234	S529P	probably damaging	Het
Mfsd6l	T	C	11: 68,557,550	L409P	probably damaging	Het
Nek1	A	G	8: 61,006,760	E34G	probably damaging	Het
Nlrp3	T	A	11: 59,543,003		probably null	Het
Obsl1	A	T	1: 75,502,036	V686D	probably damaging	Het
Olfr1537	A	T	9: 39,237,878	L182H	probably damaging	Het
Olfr167	C	T	16: 19,514,730	R302K	probably benign	Het
Olfr545	T	A	7: 102,494,461	M105L	possibly damaging	Het
Olfr871	G	A	9: 20,212,435	G29R	probably damaging	Het
Olfr871	G	A	9: 20,212,436	G29E	probably benign	Het
Olfr893	T	A	9: 38,209,479	M140K	probably benign	Het
Ostm1	G	A	10: 42,683,187	G148R	probably benign	Het
Oxsr1	A	G	9: 119,242,756	S470P	probably damaging	Het
Pan2	A	G	10: 128,317,723	M963V	probably benign	Het
Pds5a	A	G	5: 65,638,561	L662P	possibly damaging	Het
Rsf1	GGCGGCGGC	GGCGGCGGCCGCGGCGGC	7: 97,579,912		probably benign	Het
Sh2b2	T	C	5: 136,219,035	N554S	probably benign	Het
Sh3gl2	T	A	4: 85,398,840		probably null	Het
Slc24a4	A	G	12: 102,218,960	M93V	possibly damaging	Het
Sohlh1	A	G	2: 25,844,628	S218P	possibly damaging	Het
Spast	T	A	17: 74,368,926	N321K	probably benign	Het
Srcap	T	G	7: 127,549,288	I1936S	probably damaging	Het
Themis	G	A	10: 28,863,309	V592I	probably benign	Het
Tnfrsf1a	C	T	6: 125,361,414	T296I	possibly damaging	Het
Ttk	A	G	9: 83,865,153	T682A	probably benign	Het
Virma	C	T	4: 11,549,682	R1807W	probably damaging	Het
Virma	A	G	4: 11,513,016		probably null	Het
Vmn2r101	T	A	17: 19,611,915	D724E	probably damaging	Het
Vmn2r11	A	G	5: 109,047,441	V673A	probably damaging	Het
Wbp4	C	T	14: 79,466,294	S271N	probably benign	Het
Wdr66	A	G	5: 123,262,134	N439D	probably damaging	Het

Other mutations in Pacs1

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

Predicted Primers

PCR Primer
(F):5'- GCCTCTCCAACAGGAAATGG -3'
(R):5'- TCAGAGTCCAGCTCAGGAAAG -3'

Sequencing Primer
(F):5'- CCTCTCCAACAGGAAATGGAATGG -3'
(R):5'- TCAGGAAAGAGAGGACTGTGCTTTG -3'

Posted On

2019-11-12