Incidental Mutation 'IGL00585:Pacs1'
| ID |
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)
|
| Stock # |
IGL00585
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
5183714-5323138 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 5203726 bp (GRCm39)
|
| 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: 24,519,294 (GRCm39) |
I664F |
probably damaging |
Het |
| Abcg4 |
A |
T |
9: 44,192,920 (GRCm39) |
M142K |
probably benign |
Het |
| Afdn |
A |
G |
17: 14,104,890 (GRCm39) |
T1198A |
probably damaging |
Het |
| Angptl2 |
T |
C |
2: 33,136,239 (GRCm39) |
S475P |
probably damaging |
Het |
| Ap3s2 |
T |
C |
7: 79,565,824 (GRCm39) |
E34G |
probably benign |
Het |
| C1qtnf9 |
T |
C |
14: 61,017,442 (GRCm39) |
F324S |
probably damaging |
Het |
| Cacng7 |
A |
G |
7: 3,414,547 (GRCm39) |
Y170C |
probably damaging |
Het |
| Ceacam18 |
G |
A |
7: 43,286,435 (GRCm39) |
V103M |
possibly damaging |
Het |
| Chrnb1 |
G |
A |
11: 69,684,742 (GRCm39) |
P144S |
probably damaging |
Het |
| Chuk |
T |
C |
19: 44,066,751 (GRCm39) |
H652R |
probably damaging |
Het |
| Ckap5 |
C |
T |
2: 91,450,170 (GRCm39) |
L1948F |
probably damaging |
Het |
| Clstn1 |
A |
T |
4: 149,722,769 (GRCm39) |
H469L |
probably benign |
Het |
| Csf2rb2 |
C |
T |
15: 78,169,047 (GRCm39) |
G594S |
possibly damaging |
Het |
| Ctsq |
A |
T |
13: 61,184,941 (GRCm39) |
D248E |
probably benign |
Het |
| Ep400 |
A |
T |
5: 110,903,771 (GRCm39) |
I276K |
possibly damaging |
Het |
| Gbf1 |
G |
A |
19: 46,272,688 (GRCm39) |
|
probably null |
Het |
| Gldn |
T |
A |
9: 54,245,748 (GRCm39) |
I433N |
probably damaging |
Het |
| Gm136 |
T |
A |
4: 34,752,322 (GRCm39) |
E69V |
probably damaging |
Het |
| Gm28177 |
T |
C |
1: 52,121,738 (GRCm39) |
|
probably null |
Het |
| Gtf2h2 |
A |
G |
13: 100,617,506 (GRCm39) |
|
probably benign |
Het |
| Ints12 |
T |
C |
3: 132,806,570 (GRCm39) |
|
probably null |
Het |
| Ltbp4 |
T |
C |
7: 27,026,158 (GRCm39) |
D615G |
probably damaging |
Het |
| Mgme1 |
C |
T |
2: 144,113,909 (GRCm39) |
P4S |
probably benign |
Het |
| Nae1 |
A |
G |
8: 105,252,910 (GRCm39) |
|
probably null |
Het |
| Nup133 |
G |
A |
8: 124,636,733 (GRCm39) |
A956V |
probably damaging |
Het |
| Oacyl |
T |
A |
18: 65,882,711 (GRCm39) |
M529K |
possibly damaging |
Het |
| Osbpl1a |
T |
A |
18: 12,890,683 (GRCm39) |
E519V |
possibly damaging |
Het |
| Pik3c3 |
T |
G |
18: 30,436,131 (GRCm39) |
|
probably benign |
Het |
| Polh |
C |
T |
17: 46,483,169 (GRCm39) |
|
probably benign |
Het |
| Ppp6r3 |
A |
G |
19: 3,540,826 (GRCm39) |
C431R |
probably damaging |
Het |
| Pprc1 |
T |
C |
19: 46,051,087 (GRCm39) |
S206P |
possibly damaging |
Het |
| Rab20 |
A |
G |
8: 11,504,212 (GRCm39) |
Y163H |
probably benign |
Het |
| Sde2 |
T |
A |
1: 180,683,383 (GRCm39) |
C46S |
possibly damaging |
Het |
| Serpinb1c |
T |
C |
13: 33,067,958 (GRCm39) |
K213E |
probably damaging |
Het |
| Spata20 |
T |
G |
11: 94,369,943 (GRCm39) |
L784F |
probably damaging |
Het |
| Tnnt1 |
A |
C |
7: 4,510,549 (GRCm39) |
M224R |
possibly damaging |
Het |
| Trank1 |
T |
C |
9: 111,178,358 (GRCm39) |
F349L |
possibly damaging |
Het |
| Ttf1 |
T |
C |
2: 28,963,895 (GRCm39) |
|
probably benign |
Het |
| Usp54 |
T |
A |
14: 20,623,905 (GRCm39) |
S651C |
probably damaging |
Het |
| Vps45 |
A |
G |
3: 95,907,378 (GRCm39) |
*571R |
probably null |
Het |
| Yod1 |
G |
A |
1: 130,646,870 (GRCm39) |
G249E |
probably damaging |
Het |
| Ythdc2 |
A |
G |
18: 44,997,428 (GRCm39) |
Y340C |
probably damaging |
Het |
| Zfp366 |
G |
A |
13: 99,383,080 (GRCm39) |
|
probably benign |
Het |
| Zfp648 |
T |
A |
1: 154,079,935 (GRCm39) |
D31E |
possibly damaging |
Het |
|
| Other mutations in Pacs1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01335:Pacs1
|
APN |
19 |
5,192,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01717:Pacs1
|
APN |
19 |
5,218,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02453:Pacs1
|
APN |
19 |
5,185,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02887:Pacs1
|
APN |
19 |
5,185,138 (GRCm39) |
splice site |
probably benign |
|
|
Batavian
|
UTSW |
19 |
5,206,441 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
chicory
|
UTSW |
19 |
5,189,325 (GRCm39) |
missense |
probably benign |
0.33 |
|
endive
|
UTSW |
19 |
5,322,611 (GRCm39) |
nonsense |
probably null |
|
|
Escarole
|
UTSW |
19 |
5,206,384 (GRCm39) |
critical splice donor site |
probably null |
|
|
frisee
|
UTSW |
19 |
5,186,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0240:Pacs1
|
UTSW |
19 |
5,206,402 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R0240:Pacs1
|
UTSW |
19 |
5,206,402 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R0316:Pacs1
|
UTSW |
19 |
5,185,149 (GRCm39) |
splice site |
silent |
|
|
R0369:Pacs1
|
UTSW |
19 |
5,191,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0443:Pacs1
|
UTSW |
19 |
5,322,611 (GRCm39) |
nonsense |
probably null |
|
|
R0973:Pacs1
|
UTSW |
19 |
5,193,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0973:Pacs1
|
UTSW |
19 |
5,193,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0974:Pacs1
|
UTSW |
19 |
5,193,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1202:Pacs1
|
UTSW |
19 |
5,185,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1672:Pacs1
|
UTSW |
19 |
5,202,337 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1689:Pacs1
|
UTSW |
19 |
5,322,643 (GRCm39) |
unclassified |
probably benign |
|
|
R1842:Pacs1
|
UTSW |
19 |
5,205,912 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1847:Pacs1
|
UTSW |
19 |
5,203,742 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3884:Pacs1
|
UTSW |
19 |
5,205,787 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4577:Pacs1
|
UTSW |
19 |
5,193,861 (GRCm39) |
nonsense |
probably null |
|
|
R4630:Pacs1
|
UTSW |
19 |
5,206,384 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5029:Pacs1
|
UTSW |
19 |
5,192,299 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5198:Pacs1
|
UTSW |
19 |
5,189,325 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5223:Pacs1
|
UTSW |
19 |
5,195,169 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5464:Pacs1
|
UTSW |
19 |
5,197,235 (GRCm39) |
missense |
probably benign |
|
|
R5695:Pacs1
|
UTSW |
19 |
5,186,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6128:Pacs1
|
UTSW |
19 |
5,202,400 (GRCm39) |
splice site |
probably null |
|
|
R6335:Pacs1
|
UTSW |
19 |
5,210,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6802:Pacs1
|
UTSW |
19 |
5,202,812 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6831:Pacs1
|
UTSW |
19 |
5,210,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7071:Pacs1
|
UTSW |
19 |
5,206,402 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7200:Pacs1
|
UTSW |
19 |
5,206,441 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7248:Pacs1
|
UTSW |
19 |
5,189,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7576:Pacs1
|
UTSW |
19 |
5,195,148 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7682:Pacs1
|
UTSW |
19 |
5,202,727 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7715:Pacs1
|
UTSW |
19 |
5,191,709 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7738:Pacs1
|
UTSW |
19 |
5,202,378 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8339:Pacs1
|
UTSW |
19 |
5,192,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8930:Pacs1
|
UTSW |
19 |
5,185,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8932:Pacs1
|
UTSW |
19 |
5,185,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9043:Pacs1
|
UTSW |
19 |
5,188,964 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9211:Pacs1
|
UTSW |
19 |
5,189,057 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9459:Pacs1
|
UTSW |
19 |
5,195,098 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9584:Pacs1
|
UTSW |
19 |
5,322,622 (GRCm39) |
missense |
probably benign |
|
|
R9608:Pacs1
|
UTSW |
19 |
5,193,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9732:Pacs1
|
UTSW |
19 |
5,184,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation