Incidental Mutation 'IGL01335:Pacs1'
ID |
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 |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01335
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
5183714-5323138 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 5192660 bp (GRCm39)
|
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 |
6820408C15Rik |
T |
A |
2: 152,284,307 (GRCm39) |
M300K |
possibly damaging |
Het |
Adamts14 |
T |
A |
10: 61,034,460 (GRCm39) |
R1143W |
possibly damaging |
Het |
Ankrd28 |
T |
C |
14: 31,423,981 (GRCm39) |
Y1083C |
probably damaging |
Het |
Anxa8 |
T |
C |
14: 33,811,547 (GRCm39) |
M34T |
probably damaging |
Het |
Aox1 |
G |
T |
1: 58,121,312 (GRCm39) |
E928* |
probably null |
Het |
Atp8b5 |
T |
A |
4: 43,302,628 (GRCm39) |
F50L |
possibly damaging |
Het |
Brpf1 |
A |
G |
6: 113,296,298 (GRCm39) |
S863G |
probably damaging |
Het |
Cdc42bpb |
A |
G |
12: 111,260,530 (GRCm39) |
|
probably benign |
Het |
Cdh6 |
C |
T |
15: 13,051,395 (GRCm39) |
A413T |
probably benign |
Het |
Cfap96 |
A |
T |
8: 46,426,642 (GRCm39) |
|
probably benign |
Het |
Cfap97 |
A |
G |
8: 46,623,492 (GRCm39) |
Q294R |
probably damaging |
Het |
Cit |
C |
T |
5: 116,046,889 (GRCm39) |
|
probably benign |
Het |
Dmbt1 |
A |
G |
7: 130,690,497 (GRCm39) |
Y736C |
possibly damaging |
Het |
Eno2 |
C |
T |
6: 124,743,618 (GRCm39) |
G107E |
probably damaging |
Het |
Gja8 |
T |
C |
3: 96,826,558 (GRCm39) |
Q368R |
probably benign |
Het |
Gm3633 |
T |
A |
14: 42,462,595 (GRCm39) |
|
probably benign |
Het |
Gm4987 |
A |
T |
X: 45,544,755 (GRCm39) |
|
noncoding transcript |
Het |
Gna13 |
G |
A |
11: 109,256,569 (GRCm39) |
R164Q |
probably damaging |
Het |
Grhl1 |
A |
T |
12: 24,658,057 (GRCm39) |
E351D |
probably damaging |
Het |
Idua |
A |
G |
5: 108,828,737 (GRCm39) |
Q280R |
probably benign |
Het |
Igsf5 |
T |
A |
16: 96,174,353 (GRCm39) |
|
probably benign |
Het |
Mrpl52 |
T |
C |
14: 54,664,656 (GRCm39) |
Y39H |
probably damaging |
Het |
Naa16 |
A |
T |
14: 79,582,556 (GRCm39) |
|
probably benign |
Het |
Naa35 |
T |
A |
13: 59,764,610 (GRCm39) |
L338Q |
probably damaging |
Het |
Nat8l |
A |
T |
5: 34,155,791 (GRCm39) |
Y149F |
probably benign |
Het |
Nck1 |
A |
T |
9: 100,379,790 (GRCm39) |
W154R |
probably damaging |
Het |
Ncoa1 |
A |
T |
12: 4,347,520 (GRCm39) |
S351R |
probably benign |
Het |
Or10w1 |
A |
T |
19: 13,632,540 (GRCm39) |
H249L |
probably damaging |
Het |
Or12e10 |
A |
T |
2: 87,640,790 (GRCm39) |
T209S |
probably damaging |
Het |
Or6c8b |
T |
C |
10: 128,882,380 (GRCm39) |
K184R |
probably benign |
Het |
Or8k1 |
A |
T |
2: 86,047,916 (GRCm39) |
L46Q |
probably damaging |
Het |
Pde6b |
G |
A |
5: 108,571,379 (GRCm39) |
R444H |
probably benign |
Het |
Pigk |
A |
T |
3: 152,448,173 (GRCm39) |
T226S |
probably benign |
Het |
Prkdc |
T |
C |
16: 15,634,760 (GRCm39) |
|
probably null |
Het |
Ptbp1 |
G |
A |
10: 79,698,708 (GRCm39) |
|
probably null |
Het |
Pyroxd1 |
T |
C |
6: 142,307,484 (GRCm39) |
V418A |
probably damaging |
Het |
Rhot1 |
A |
T |
11: 80,141,055 (GRCm39) |
D421V |
probably damaging |
Het |
Rimkla |
T |
C |
4: 119,335,156 (GRCm39) |
T76A |
possibly damaging |
Het |
Rtn1 |
A |
G |
12: 72,355,124 (GRCm39) |
V274A |
probably benign |
Het |
Tatdn2 |
T |
A |
6: 113,681,017 (GRCm39) |
M289K |
probably benign |
Het |
Trak1 |
A |
G |
9: 121,283,382 (GRCm39) |
T476A |
possibly damaging |
Het |
Ube2i |
C |
A |
17: 25,488,410 (GRCm39) |
Q11H |
probably damaging |
Het |
Ugt2a3 |
A |
T |
5: 87,484,644 (GRCm39) |
C127S |
probably damaging |
Het |
Uimc1 |
T |
A |
13: 55,182,724 (GRCm39) |
Q619L |
probably benign |
Het |
Upk3a |
T |
A |
15: 84,903,786 (GRCm39) |
Y162N |
probably damaging |
Het |
Usp33 |
T |
C |
3: 152,097,854 (GRCm39) |
S849P |
probably damaging |
Het |
Vmn2r120 |
G |
A |
17: 57,832,732 (GRCm39) |
T149I |
possibly damaging |
Het |
Vmn2r15 |
G |
A |
5: 109,434,602 (GRCm39) |
P701S |
possibly damaging |
Het |
Vmn2r28 |
T |
C |
7: 5,484,087 (GRCm39) |
I704M |
possibly damaging |
Het |
Wdhd1 |
T |
C |
14: 47,488,239 (GRCm39) |
E756G |
possibly damaging |
Het |
Xlr3c |
C |
A |
X: 72,303,639 (GRCm39) |
V102F |
probably benign |
Het |
Zfp384 |
T |
G |
6: 125,002,016 (GRCm39) |
D220E |
probably benign |
Het |
Zfp521 |
A |
T |
18: 13,977,776 (GRCm39) |
V879E |
probably benign |
Het |
|
Other mutations in Pacs1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00585:Pacs1
|
APN |
19 |
5,203,726 (GRCm39) |
missense |
probably damaging |
0.98 |
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 |
2013-10-07 |