Incidental Mutation 'R6802:Pacs1'
| ID |
533412 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pacs1
|
| Ensembl Gene |
ENSMUSG00000024855 |
| Gene Name |
phosphofurin acidic cluster sorting protein 1 |
| Synonyms |
|
| MMRRC Submission |
044915-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6802 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
5183714-5323138 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 5202812 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 357
(I357V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025786
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025786]
|
| AlphaFold |
Q8K212 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025786
AA Change: I357V
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000025786
Gene: ENSMUSG00000024855
AA Change: I357V
| 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 |
|
| Meta Mutation Damage Score |
0.0699 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (54/54) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110004F10Rik |
A |
T |
7: 115,698,725 (GRCm39) |
K38N |
probably damaging |
Het |
| Agap3 |
T |
A |
5: 24,692,791 (GRCm39) |
I408N |
possibly damaging |
Het |
| Apold1 |
G |
A |
6: 134,960,693 (GRCm39) |
R49H |
probably damaging |
Het |
| Arfgef1 |
A |
T |
1: 10,259,677 (GRCm39) |
M597K |
probably benign |
Het |
| Bsn |
C |
T |
9: 107,987,823 (GRCm39) |
|
probably benign |
Het |
| Ccdc177 |
A |
T |
12: 80,806,057 (GRCm39) |
D72E |
probably damaging |
Het |
| Coa8 |
G |
T |
12: 111,717,625 (GRCm39) |
G162W |
probably benign |
Het |
| Ctdp1 |
A |
T |
18: 80,463,656 (GRCm39) |
|
probably null |
Het |
| Ctsj |
A |
T |
13: 61,150,888 (GRCm39) |
L190M |
probably benign |
Het |
| Dhx57 |
A |
G |
17: 80,582,750 (GRCm39) |
F285S |
probably benign |
Het |
| Dnah2 |
A |
T |
11: 69,314,516 (GRCm39) |
V4051E |
probably damaging |
Het |
| F5 |
A |
T |
1: 164,006,925 (GRCm39) |
D243V |
probably damaging |
Het |
| Fat3 |
C |
T |
9: 15,826,357 (GRCm39) |
E4532K |
possibly damaging |
Het |
| Fbxo30 |
G |
T |
10: 11,167,224 (GRCm39) |
G649C |
probably damaging |
Het |
| Focad |
T |
C |
4: 88,192,440 (GRCm39) |
S590P |
unknown |
Het |
| Focad |
G |
A |
4: 88,262,921 (GRCm39) |
V973I |
unknown |
Het |
| Glb1l3 |
T |
C |
9: 26,770,648 (GRCm39) |
|
probably null |
Het |
| Gli2 |
G |
A |
1: 118,769,795 (GRCm39) |
R586C |
probably damaging |
Het |
| Gm6401 |
T |
A |
14: 41,788,874 (GRCm39) |
E65V |
probably damaging |
Het |
| Gml2 |
T |
A |
15: 74,696,095 (GRCm39) |
L163H |
probably damaging |
Het |
| Grm6 |
A |
T |
11: 50,744,216 (GRCm39) |
Q229L |
probably benign |
Het |
| Gtf2h2 |
T |
C |
13: 100,617,051 (GRCm39) |
M252V |
probably benign |
Het |
| Hsf4 |
G |
A |
8: 106,001,300 (GRCm39) |
G309S |
probably damaging |
Het |
| Iglc1 |
T |
C |
16: 18,880,660 (GRCm39) |
|
probably benign |
Het |
| Irgq |
A |
G |
7: 24,231,076 (GRCm39) |
E89G |
probably benign |
Het |
| Kcnj6 |
T |
C |
16: 94,563,436 (GRCm39) |
N354S |
probably benign |
Het |
| Lrguk |
A |
G |
6: 34,039,392 (GRCm39) |
H301R |
probably damaging |
Het |
| Mc4r |
C |
A |
18: 66,992,488 (GRCm39) |
M208I |
probably benign |
Het |
| Mrpl15 |
A |
G |
1: 4,846,953 (GRCm39) |
S208P |
probably benign |
Het |
| Neil2 |
A |
G |
14: 63,429,263 (GRCm39) |
F10S |
probably damaging |
Het |
| Nrg1 |
T |
C |
8: 32,311,292 (GRCm39) |
R476G |
probably damaging |
Het |
| Or12k7 |
A |
G |
2: 36,958,427 (GRCm39) |
M37V |
probably benign |
Het |
| Or4c100 |
A |
G |
2: 88,355,941 (GRCm39) |
T5A |
probably benign |
Het |
| Or8k22 |
G |
T |
2: 86,163,529 (GRCm39) |
T57K |
possibly damaging |
Het |
| Pla2g15 |
T |
C |
8: 106,877,213 (GRCm39) |
L32P |
probably damaging |
Het |
| Pms1 |
A |
T |
1: 53,245,951 (GRCm39) |
S529R |
probably benign |
Het |
| Prkra |
A |
T |
2: 76,463,881 (GRCm39) |
D260E |
probably damaging |
Het |
| Qsox1 |
A |
C |
1: 155,671,139 (GRCm39) |
F127V |
probably damaging |
Het |
| Rabgap1l |
A |
T |
1: 160,561,250 (GRCm39) |
V161E |
probably benign |
Het |
| Robo1 |
T |
G |
16: 72,730,201 (GRCm39) |
V214G |
probably benign |
Het |
| Ryr2 |
G |
A |
13: 11,701,852 (GRCm39) |
A2935V |
probably damaging |
Het |
| Sgtb |
A |
T |
13: 104,268,558 (GRCm39) |
Q198L |
probably benign |
Het |
| Slc39a12 |
C |
T |
2: 14,424,896 (GRCm39) |
L376F |
probably benign |
Het |
| Socs1 |
C |
A |
16: 10,602,222 (GRCm39) |
V172L |
probably benign |
Het |
| Sprr2k |
A |
G |
3: 92,340,671 (GRCm39) |
|
probably benign |
Het |
| Tgm1 |
C |
T |
14: 55,949,939 (GRCm39) |
|
probably benign |
Het |
| Tph2 |
A |
T |
10: 115,020,778 (GRCm39) |
M6K |
probably damaging |
Het |
| Trav16 |
T |
A |
14: 53,980,941 (GRCm39) |
C43* |
probably null |
Het |
| Ttll5 |
A |
G |
12: 85,926,160 (GRCm39) |
E318G |
probably damaging |
Het |
| Vmn2r90 |
T |
A |
17: 17,932,351 (GRCm39) |
I86N |
probably damaging |
Het |
| Zdhhc19 |
T |
C |
16: 32,325,176 (GRCm39) |
S165P |
possibly damaging |
Het |
| Zfp352 |
A |
T |
4: 90,113,437 (GRCm39) |
T526S |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGTCCTCTGAGTGAATGAGAGAG -3'
(R):5'- TTGGTCTAGAGGGACAGTGC -3'
Sequencing Primer
(F):5'- CTCTGAGTGAATGAGAGAGGAGGC -3'
(R):5'- CTAGAGGGACAGTGCTGCATGTC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation