Mutagenetix > Incidental Mutation

Incidental Mutation 'R1689:Pacs1'

189612

Institutional Source

Beutler Lab

Gene Symbol

Pacs1

Ensembl Gene

ENSMUSG00000024855

Gene Name

phosphofurin acidic cluster sorting protein 1

Synonyms

MMRRC Submission

039722-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1689 (G1)

Quality Score

176

Status

Not validated

Chromosome

Chromosomal Location

5133688-5273119 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to T at 5272615 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000025774 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025774] [ENSMUST00000025786]

AlphaFold

Q8K212

Predicted Effect

probably benign
Transcript: ENSMUST00000025774

SMART Domains

Protein: ENSMUSP00000025774
Gene: ENSMUSG00000024853

Domain	Start	End	E-Value	Type
low complexity region	6	22	N/A	INTRINSIC
SAP	24	58	1.84e-4	SMART
low complexity region	91	132	N/A	INTRINSIC
coiled coil region	140	178	N/A	INTRINSIC
low complexity region	201	221	N/A	INTRINSIC
low complexity region	225	237	N/A	INTRINSIC
low complexity region	264	280	N/A	INTRINSIC
low complexity region	303	318	N/A	INTRINSIC
low complexity region	383	397	N/A	INTRINSIC
low complexity region	408	437	N/A	INTRINSIC
Pfam:DUF382	453	579	2.9e-63	PFAM
PSP	584	642	9.41e-33	SMART
low complexity region	693	717	N/A	INTRINSIC
low complexity region	745	756	N/A	INTRINSIC
low complexity region	807	818	N/A	INTRINSIC
low complexity region	851	862	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000025786
AA Change: R92S

SMART Domains

Protein: ENSMUSP00000025786
Gene: ENSMUSG00000024855
AA Change: R92S

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: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	T	C	7: 46,120,403 (GRCm38)	K896R	probably benign	Het
Adcy9	A	T	16: 4,297,562 (GRCm38)		probably null	Het
Adgre1	T	C	17: 57,449,921 (GRCm38)	F726S	probably benign	Het
Ahctf1	A	T	1: 179,768,383 (GRCm38)	S148T	probably damaging	Het
Aif1	G	A	17: 35,172,151 (GRCm38)	P44L	probably benign	Het
Ammecr1l	C	A	18: 31,780,688 (GRCm38)	A289D	probably benign	Het
Amotl1	T	C	9: 14,593,222 (GRCm38)	Y230C	probably damaging	Het
Armc6	A	T	8: 70,229,537 (GRCm38)	S65R	probably benign	Het
Atad2b	T	A	12: 5,034,575 (GRCm38)	Y1440*	probably null	Het
Atf6b	T	A	17: 34,650,302 (GRCm38)	D164E	probably damaging	Het
B020004J07Rik	T	A	4: 101,837,179 (GRCm38)	K169I	possibly damaging	Het
B4galt6	C	T	18: 20,706,496 (GRCm38)	S127N	probably benign	Het
Bcl11a	A	T	11: 24,163,167 (GRCm38)	Y170F	probably damaging	Het
Bcl11a	A	T	11: 24,164,406 (GRCm38)	D583V	possibly damaging	Het
Btnl1	T	A	17: 34,381,208 (GRCm38)	Y228*	probably null	Het
C130060K24Rik	A	G	6: 65,381,607 (GRCm38)	N105S	possibly damaging	Het
Cav2	A	G	6: 17,281,422 (GRCm38)	H21R	probably benign	Het
Celsr2	T	A	3: 108,407,304 (GRCm38)	D1135V	possibly damaging	Het
Cntnap1	A	C	11: 101,188,873 (GRCm38)		probably null	Het
Cysltr2	T	C	14: 73,030,030 (GRCm38)	D80G	possibly damaging	Het
Dclk2	C	T	3: 86,805,639 (GRCm38)	R503Q	possibly damaging	Het
Dgkh	A	T	14: 78,618,544 (GRCm38)	M363K	possibly damaging	Het
Eml5	C	T	12: 98,830,935 (GRCm38)	V1112M	probably damaging	Het
Entpd7	A	G	19: 43,725,476 (GRCm38)	T425A	probably damaging	Het
Ephx2	T	A	14: 66,087,026 (GRCm38)	K373*	probably null	Het
F5	G	C	1: 164,198,917 (GRCm38)	R1686P	probably damaging	Het
Fbxw10	A	T	11: 62,860,036 (GRCm38)	I482L	probably damaging	Het
Fbxw8	T	C	5: 118,077,617 (GRCm38)	S443G	probably damaging	Het
Fdft1	T	C	14: 63,156,689 (GRCm38)	E191G	probably benign	Het
Fgd2	A	G	17: 29,363,722 (GRCm38)	E26G	probably benign	Het
Gabra4	T	C	5: 71,633,542 (GRCm38)		probably null	Het
Gc	A	G	5: 89,441,200 (GRCm38)		probably null	Het
Heatr1	T	A	13: 12,424,625 (GRCm38)	D1361E	probably benign	Het
Hid1	A	G	11: 115,360,357 (GRCm38)	F118L	probably damaging	Het
Igsf8	G	T	1: 172,318,937 (GRCm38)	G564W	probably damaging	Het
Il12rb2	A	G	6: 67,336,760 (GRCm38)	V4A	probably benign	Het
Irak3	T	C	10: 120,146,552 (GRCm38)	E335G	probably damaging	Het
Itgb8	T	G	12: 119,170,820 (GRCm38)	Q504P	probably benign	Het
Kbtbd12	A	T	6: 88,618,585 (GRCm38)	Y88N	probably damaging	Het
Klk1b5	T	C	7: 44,220,545 (GRCm38)	I226T	probably damaging	Het
L3hypdh	A	T	12: 72,084,753 (GRCm38)	I135N	probably damaging	Het
Lrp2	G	T	2: 69,503,529 (GRCm38)	T1456K	probably benign	Het
Mrgprd	C	A	7: 145,321,717 (GRCm38)	Y108*	probably null	Het
Muc6	C	T	7: 141,647,998 (GRCm38)	G742D	probably damaging	Het
Nalcn	T	A	14: 123,285,254 (GRCm38)	I1572F	probably damaging	Het
Nceh1	A	G	3: 27,226,082 (GRCm38)	Y126C	probably damaging	Het
Olfr125	T	C	17: 37,835,604 (GRCm38)	S202P	possibly damaging	Het
Olfr356	A	G	2: 36,937,977 (GRCm38)	N286S	probably damaging	Het
Olfr867	A	T	9: 20,055,126 (GRCm38)	N112K	possibly damaging	Het
Pappa2	A	G	1: 158,957,398 (GRCm38)	L14P	probably damaging	Het
Pdlim2	C	T	14: 70,171,239 (GRCm38)	G176D	probably damaging	Het
Ptpra	T	C	2: 130,503,492 (GRCm38)	F5L	probably benign	Het
Ralgapa1	A	G	12: 55,676,767 (GRCm38)	L2114P	possibly damaging	Het
Rif1	GCCACCA	GCCA	2: 52,110,324 (GRCm38)		probably benign	Het
Senp2	T	A	16: 22,026,666 (GRCm38)	Y217N	probably damaging	Het
Sned1	C	T	1: 93,283,372 (GRCm38)	R1061C	probably damaging	Het
Spag16	C	T	1: 70,461,118 (GRCm38)	T535I	probably benign	Het
Supt20	T	A	3: 54,712,162 (GRCm38)	L355*	probably null	Het
Tmem132b	A	G	5: 125,787,614 (GRCm38)	H928R	possibly damaging	Het
Tpo	A	T	12: 30,098,246 (GRCm38)	L552H	probably damaging	Het
Tsfm	A	T	10: 127,028,455 (GRCm38)	N130K	probably damaging	Het
Usp48	T	A	4: 137,656,107 (GRCm38)		probably null	Het
Vsig10	A	G	5: 117,352,760 (GRCm38)	D544G	probably benign	Het
Vsig10l	C	T	7: 43,465,368 (GRCm38)	T433I	possibly damaging	Het
Wdr81	A	G	11: 75,445,596 (GRCm38)	F1655L	probably damaging	Het
Wfdc3	T	A	2: 164,734,191 (GRCm38)	D60V	probably damaging	Het

Other mutations in Pacs1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00585:Pacs1	APN	19	5,153,698 (GRCm38)	missense	probably damaging	0.98
IGL01335:Pacs1	APN	19	5,142,632 (GRCm38)	missense	probably damaging	1.00
IGL01717:Pacs1	APN	19	5,167,972 (GRCm38)	missense	probably damaging	1.00
IGL02453:Pacs1	APN	19	5,135,005 (GRCm38)	missense	probably damaging	1.00
IGL02887:Pacs1	APN	19	5,135,110 (GRCm38)	splice site	probably benign
Batavian	UTSW	19	5,156,413 (GRCm38)	missense	possibly damaging	0.71
chicory	UTSW	19	5,139,297 (GRCm38)	missense	probably benign	0.33
endive	UTSW	19	5,272,583 (GRCm38)	nonsense	probably null
Escarole	UTSW	19	5,156,356 (GRCm38)	critical splice donor site	probably null
frisee	UTSW	19	5,136,791 (GRCm38)	missense	probably damaging	1.00
R0240:Pacs1	UTSW	19	5,156,374 (GRCm38)	missense	possibly damaging	0.69
R0240:Pacs1	UTSW	19	5,156,374 (GRCm38)	missense	possibly damaging	0.69
R0316:Pacs1	UTSW	19	5,135,121 (GRCm38)	splice site	silent
R0369:Pacs1	UTSW	19	5,141,698 (GRCm38)	missense	probably damaging	1.00
R0443:Pacs1	UTSW	19	5,272,583 (GRCm38)	nonsense	probably null
R0973:Pacs1	UTSW	19	5,143,829 (GRCm38)	missense	probably damaging	1.00
R0973:Pacs1	UTSW	19	5,143,829 (GRCm38)	missense	probably damaging	1.00
R0974:Pacs1	UTSW	19	5,143,829 (GRCm38)	missense	probably damaging	1.00
R1202:Pacs1	UTSW	19	5,135,237 (GRCm38)	missense	probably damaging	1.00
R1672:Pacs1	UTSW	19	5,152,309 (GRCm38)	missense	probably benign	0.00
R1842:Pacs1	UTSW	19	5,155,884 (GRCm38)	missense	probably damaging	0.96
R1847:Pacs1	UTSW	19	5,153,714 (GRCm38)	missense	probably damaging	0.99
R3884:Pacs1	UTSW	19	5,155,759 (GRCm38)	missense	probably damaging	0.99
R4577:Pacs1	UTSW	19	5,143,833 (GRCm38)	nonsense	probably null
R4630:Pacs1	UTSW	19	5,156,356 (GRCm38)	critical splice donor site	probably null
R5029:Pacs1	UTSW	19	5,142,271 (GRCm38)	missense	probably benign	0.03
R5198:Pacs1	UTSW	19	5,139,297 (GRCm38)	missense	probably benign	0.33
R5223:Pacs1	UTSW	19	5,145,141 (GRCm38)	missense	probably benign	0.00
R5464:Pacs1	UTSW	19	5,147,207 (GRCm38)	missense	probably benign
R5695:Pacs1	UTSW	19	5,136,791 (GRCm38)	missense	probably damaging	1.00
R6128:Pacs1	UTSW	19	5,152,372 (GRCm38)	splice site	probably null
R6335:Pacs1	UTSW	19	5,159,977 (GRCm38)	missense	probably damaging	1.00
R6802:Pacs1	UTSW	19	5,152,784 (GRCm38)	missense	probably damaging	0.99
R6831:Pacs1	UTSW	19	5,160,795 (GRCm38)	missense	probably damaging	1.00
R7071:Pacs1	UTSW	19	5,156,374 (GRCm38)	missense	possibly damaging	0.69
R7200:Pacs1	UTSW	19	5,156,413 (GRCm38)	missense	possibly damaging	0.71
R7248:Pacs1	UTSW	19	5,138,975 (GRCm38)	missense	probably damaging	1.00
R7576:Pacs1	UTSW	19	5,145,120 (GRCm38)	missense	probably benign	0.09
R7682:Pacs1	UTSW	19	5,152,699 (GRCm38)	missense	probably damaging	0.99
R7715:Pacs1	UTSW	19	5,141,681 (GRCm38)	missense	probably benign	0.01
R7738:Pacs1	UTSW	19	5,152,350 (GRCm38)	missense	probably benign	0.11
R8339:Pacs1	UTSW	19	5,142,623 (GRCm38)	missense	probably damaging	1.00
R8930:Pacs1	UTSW	19	5,135,002 (GRCm38)	missense	probably damaging	1.00
R8932:Pacs1	UTSW	19	5,135,002 (GRCm38)	missense	probably damaging	1.00
R9043:Pacs1	UTSW	19	5,138,936 (GRCm38)	missense	probably benign	0.23
R9211:Pacs1	UTSW	19	5,139,029 (GRCm38)	missense	probably damaging	0.99
R9459:Pacs1	UTSW	19	5,145,070 (GRCm38)	critical splice donor site	probably null
R9584:Pacs1	UTSW	19	5,272,594 (GRCm38)	missense	probably benign
R9608:Pacs1	UTSW	19	5,143,834 (GRCm38)	missense	probably damaging	1.00
R9732:Pacs1	UTSW	19	5,134,969 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCCCAAAGCCAAGATGAGCTAGGAG -3'
(R):5'- GTGCCCTCAGTCTGCGTAAGCC -3'

Sequencing Primer
(F):5'- CTAGGAGTGGAGGACGTACCC -3'
(R):5'- TCTGGGGTCGCCCAGTC -3'

Posted On

2014-05-14