Mutagenetix > Incidental Mutation

Incidental Mutation 'R6831:Pacs1'

537881

Institutional Source

Beutler Lab

Gene Symbol

Pacs1

Ensembl Gene

ENSMUSG00000024855

Gene Name

phosphofurin acidic cluster sorting protein 1

Synonyms

MMRRC Submission

044941-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6831 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

5133688-5273119 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 5160795 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 151 (I151F)

Ref Sequence

ENSEMBL: ENSMUSP00000025786 (fasta)

Gene Model

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

AlphaFold

Q8K212

Predicted Effect

probably damaging
Transcript: ENSMUST00000025786
AA Change: I151F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000025786
Gene: ENSMUSG00000024855
AA Change: I151F

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: 99.6%
20x: 98.8%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	T	G	10: 29,224,679	D349E	probably benign	Het
Adam28	C	T	14: 68,618,127	A630T	probably benign	Het
Akr1cl	C	T	1: 65,014,672		probably null	Het
Alcam	A	G	16: 52,309,901	Y29H	probably benign	Het
Alg3	A	T	16: 20,608,747	S25T	probably damaging	Het
Amdhd1	T	G	10: 93,527,256	L323F	probably damaging	Het
Apcdd1	C	A	18: 62,950,126	Y342*	probably null	Het
Aqp9	T	A	9: 71,162,420		probably benign	Het
Arhgef5	A	G	6: 43,280,999	T1326A	probably damaging	Het
B020004J07Rik	T	A	4: 101,836,897	Q263L	probably benign	Het
Cacna1a	T	C	8: 84,571,231	V1238A	probably damaging	Het
Cep128	T	C	12: 91,266,974	D440G	probably damaging	Het
Dnah5	G	C	15: 28,411,515	G3677R	possibly damaging	Het
Dst	T	A	1: 34,190,684	C2631S	probably benign	Het
E330034G19Rik	T	C	14: 24,296,095	S25P	probably benign	Het
Fat3	C	T	9: 15,915,061	E4532K	possibly damaging	Het
Fat3	C	A	9: 16,376,551	V559L	probably damaging	Het
Fra10ac1	A	T	19: 38,207,289	I162K	probably benign	Het
Glrx3	C	T	7: 137,459,222	T195M	possibly damaging	Het
Gm9268	G	C	7: 43,023,580	A143P	probably damaging	Het
Gm9949	T	A	18: 62,180,545		probably benign	Het
Hbs1l	T	C	10: 21,341,868	S228P	probably benign	Het
Hmcn1	G	A	1: 150,770,293	T718I	probably benign	Het
Igf1r	T	C	7: 68,207,319	S1010P	possibly damaging	Het
Inpp5d	T	A	1: 87,701,476	Y394*	probably null	Het
Itpr2	G	A	6: 146,112,429	T2623M	probably damaging	Het
Kif21b	T	A	1: 136,144,758	C67*	probably null	Het
Lama1	T	A	17: 67,756,754	C758S	possibly damaging	Het
Mdga1	T	A	17: 29,887,516	K274*	probably null	Het
Neu2	G	A	1: 87,596,733	G147R	probably damaging	Het
Nkx1-1	A	T	5: 33,433,803	S58R	unknown	Het
Olfr677	A	G	7: 105,056,879	D211G	possibly damaging	Het
Olfr698	A	T	7: 106,752,571	N272K	probably damaging	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pamr1	C	T	2: 102,614,931	R270C	probably damaging	Het
Pclo	C	T	5: 14,788,429	Q1417*	probably null	Het
Pkm	G	C	9: 59,675,115	M409I	probably benign	Het
Plbd2	T	A	5: 120,493,066	K215N	probably benign	Het
Polk	T	C	13: 96,495,491	K245E	possibly damaging	Het
Prl	T	G	13: 27,059,547	I65S	probably benign	Het
Proser3	T	C	7: 30,540,356	H441R	probably benign	Het
Psmb3	A	G	11: 97,706,902	K98R	probably benign	Het
Ptpn20	T	C	14: 33,632,925	V319A	probably damaging	Het
Ptprj	A	T	2: 90,460,647	Y397N	probably damaging	Het
Rp1	T	C	1: 4,349,864		probably null	Het
Sgsm1	T	A	5: 113,280,380	Y314F	probably damaging	Het
Sh3pxd2a	G	A	19: 47,283,093	R244C	probably damaging	Het
Sspo	G	A	6: 48,484,833	V3466M	possibly damaging	Het
Syne2	T	A	12: 75,966,794	F2921I	probably benign	Het
Trank1	T	A	9: 111,377,899	M1700K	probably benign	Het
Trmt112	T	A	19: 6,910,195	L4H	probably damaging	Het
Trmu	A	G	15: 85,895,006	T285A	probably benign	Het
Ttn	A	G	2: 76,771,502		probably null	Het
Zc3hav1	A	T	6: 38,332,168	M573K	probably benign	Het
Zcchc8	T	C	5: 123,700,909	E522G	probably damaging	Het
Zfp354a	T	C	11: 51,070,554	S529P	probably damaging	Het
Zfp735	G	A	11: 73,710,608	G126D	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
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

Predicted Primers

PCR Primer
(F):5'- TCAAACTGGGTTCTGGCTG -3'
(R):5'- ACCTCGTAGCCAAATTGTGTTG -3'

Sequencing Primer
(F):5'- GCTGTTTTTGGAGAATAAAGTCCTC -3'
(R):5'- GGTCATTGTCTGGTACATCAAAGCC -3'

Posted On

2018-10-18