Incidental Mutation 'IGL01717:Pacs1'
| ID |
104976 |
| 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 # |
IGL01717
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
5183714-5323138 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 5218000 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 130
(K130N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025786
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025786]
|
| AlphaFold |
Q8K212 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025786
AA Change: K130N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000025786
Gene: ENSMUSG00000024855
AA Change: K130N
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aif1 |
A |
T |
17: 35,390,531 (GRCm39) |
M73K |
probably damaging |
Het |
| Alk |
T |
C |
17: 72,910,377 (GRCm39) |
I110V |
probably benign |
Het |
| Aoah |
T |
C |
13: 21,184,147 (GRCm39) |
S404P |
probably damaging |
Het |
| Bhlhe41 |
A |
G |
6: 145,808,763 (GRCm39) |
S350P |
possibly damaging |
Het |
| Bltp1 |
A |
G |
3: 37,088,885 (GRCm39) |
S4112G |
probably benign |
Het |
| Capn12 |
A |
G |
7: 28,588,530 (GRCm39) |
D540G |
probably benign |
Het |
| Chd6 |
A |
G |
2: 160,807,179 (GRCm39) |
Y2012H |
possibly damaging |
Het |
| Col1a1 |
A |
G |
11: 94,841,603 (GRCm39) |
T1284A |
unknown |
Het |
| Col24a1 |
T |
C |
3: 145,230,018 (GRCm39) |
|
probably benign |
Het |
| Col4a5 |
T |
A |
X: 140,422,234 (GRCm39) |
V1070D |
unknown |
Het |
| Col6a5 |
T |
C |
9: 105,817,472 (GRCm39) |
T280A |
unknown |
Het |
| Dicer1 |
A |
T |
12: 104,669,046 (GRCm39) |
L1212* |
probably null |
Het |
| Gigyf1 |
T |
A |
5: 137,523,953 (GRCm39) |
V1041E |
probably damaging |
Het |
| Gm4978 |
C |
T |
9: 69,358,155 (GRCm39) |
|
probably benign |
Het |
| Gnai1 |
A |
G |
5: 18,496,459 (GRCm39) |
|
probably null |
Het |
| Golgb1 |
C |
T |
16: 36,735,864 (GRCm39) |
R1704* |
probably null |
Het |
| Incenp |
A |
G |
19: 9,870,629 (GRCm39) |
|
probably benign |
Het |
| Lrrc39 |
A |
T |
3: 116,373,146 (GRCm39) |
|
probably benign |
Het |
| Man2a2 |
T |
C |
7: 80,017,113 (GRCm39) |
K319E |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,079,879 (GRCm39) |
D83G |
probably damaging |
Het |
| Osbpl6 |
T |
C |
2: 76,418,938 (GRCm39) |
I732T |
probably damaging |
Het |
| Pappa2 |
A |
G |
1: 158,684,702 (GRCm39) |
|
probably null |
Het |
| Pole2 |
T |
C |
12: 69,260,623 (GRCm39) |
M186V |
probably damaging |
Het |
| Rwdd4a |
T |
C |
8: 47,997,140 (GRCm39) |
|
probably benign |
Het |
| Sel1l3 |
A |
G |
5: 53,357,510 (GRCm39) |
Y161H |
probably damaging |
Het |
| Sf3a2 |
C |
T |
10: 80,640,526 (GRCm39) |
Q446* |
probably null |
Het |
| Slc26a3 |
T |
C |
12: 31,513,476 (GRCm39) |
I466T |
probably benign |
Het |
| Slc29a4 |
A |
T |
5: 142,704,501 (GRCm39) |
I348F |
probably damaging |
Het |
| Tbl1xr1 |
A |
G |
3: 22,247,335 (GRCm39) |
|
probably benign |
Het |
| Tlr5 |
A |
T |
1: 182,802,963 (GRCm39) |
I756F |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,560,748 (GRCm39) |
L29218I |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,560,746 (GRCm39) |
L29218F |
probably damaging |
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 |
|
IGL01335:Pacs1
|
APN |
19 |
5,192,660 (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 |
2014-01-21 |
Incidental Mutation