Incidental Mutation 'R0369:Pacs1'
ID |
30405 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pacs1
|
Ensembl Gene |
ENSMUSG00000024855 |
Gene Name |
phosphofurin acidic cluster sorting protein 1 |
Synonyms |
|
MMRRC Submission |
038575-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0369 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
5183714-5323138 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 5191726 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 704
(V704M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025786
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025786]
|
AlphaFold |
Q8K212 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000025786
AA Change: V704M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000025786 Gene: ENSMUSG00000024855 AA Change: V704M
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: 99.0%
- 3x: 97.9%
- 10x: 94.8%
- 20x: 87.0%
|
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921528I07Rik |
G |
A |
9: 114,129,077 (GRCm39) |
|
noncoding transcript |
Het |
Aadacl2 |
T |
A |
3: 59,932,143 (GRCm39) |
Y219* |
probably null |
Het |
Adamts13 |
C |
A |
2: 26,895,198 (GRCm39) |
D1096E |
probably benign |
Het |
Adamts16 |
T |
G |
13: 70,927,671 (GRCm39) |
K523Q |
possibly damaging |
Het |
Adcy2 |
A |
G |
13: 68,820,019 (GRCm39) |
F740S |
probably benign |
Het |
Carmil1 |
T |
A |
13: 24,266,003 (GRCm39) |
N253I |
probably damaging |
Het |
Ccdc97 |
T |
C |
7: 25,413,833 (GRCm39) |
T283A |
probably damaging |
Het |
Cmpk2 |
G |
T |
12: 26,527,150 (GRCm39) |
E380* |
probably null |
Het |
Csmd3 |
A |
G |
15: 47,833,543 (GRCm39) |
I911T |
probably damaging |
Het |
Cyp2c39 |
T |
C |
19: 39,502,079 (GRCm39) |
L156P |
probably damaging |
Het |
D7Ertd443e |
T |
C |
7: 133,899,866 (GRCm39) |
I499V |
possibly damaging |
Het |
Dhx58 |
A |
C |
11: 100,592,374 (GRCm39) |
|
probably null |
Het |
Dip2a |
C |
T |
10: 76,134,621 (GRCm39) |
G390S |
probably damaging |
Het |
Dusp10 |
A |
G |
1: 183,801,253 (GRCm39) |
D340G |
probably damaging |
Het |
Epha1 |
A |
T |
6: 42,342,407 (GRCm39) |
C314S |
probably damaging |
Het |
Exph5 |
A |
T |
9: 53,284,602 (GRCm39) |
H561L |
probably benign |
Het |
Fbxw26 |
A |
G |
9: 109,552,780 (GRCm39) |
|
probably null |
Het |
Foxc1 |
A |
C |
13: 31,991,495 (GRCm39) |
N102T |
probably damaging |
Het |
Fsip2 |
T |
C |
2: 82,814,908 (GRCm39) |
I3547T |
probably benign |
Het |
Gm5464 |
G |
T |
14: 67,106,774 (GRCm39) |
|
probably benign |
Het |
Gnptab |
C |
T |
10: 88,269,456 (GRCm39) |
R720C |
possibly damaging |
Het |
Greb1l |
T |
C |
18: 10,469,375 (GRCm39) |
V130A |
possibly damaging |
Het |
Hmg20a |
A |
T |
9: 56,394,934 (GRCm39) |
D216V |
probably damaging |
Het |
Hnrnpul2 |
C |
A |
19: 8,801,777 (GRCm39) |
D328E |
probably damaging |
Het |
Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
Ift172 |
T |
C |
5: 31,410,985 (GRCm39) |
Y1691C |
probably damaging |
Het |
Kremen2 |
T |
C |
17: 23,961,784 (GRCm39) |
D241G |
probably benign |
Het |
Meis2 |
T |
C |
2: 115,893,897 (GRCm39) |
D5G |
possibly damaging |
Het |
Mrps5 |
G |
A |
2: 127,433,749 (GRCm39) |
R46K |
probably benign |
Het |
Myh14 |
C |
T |
7: 44,310,374 (GRCm39) |
V170M |
probably damaging |
Het |
Nexn |
T |
C |
3: 151,953,894 (GRCm39) |
N123D |
probably benign |
Het |
Or11g26 |
T |
A |
14: 50,753,282 (GRCm39) |
M207K |
probably benign |
Het |
Or4d11 |
A |
T |
19: 12,013,765 (GRCm39) |
S114T |
probably benign |
Het |
Or51l14 |
T |
A |
7: 103,101,423 (GRCm39) |
I293N |
probably damaging |
Het |
Papolg |
A |
G |
11: 23,822,425 (GRCm39) |
|
probably null |
Het |
Pdlim3 |
T |
C |
8: 46,370,543 (GRCm39) |
V281A |
probably benign |
Het |
Plpp4 |
T |
G |
7: 128,925,190 (GRCm39) |
F142V |
probably damaging |
Het |
Prb1a |
G |
A |
6: 132,184,620 (GRCm39) |
Q338* |
probably null |
Het |
Psg26 |
G |
T |
7: 18,216,481 (GRCm39) |
Y119* |
probably null |
Het |
Ptger4 |
A |
G |
15: 5,272,491 (GRCm39) |
C68R |
probably benign |
Het |
Ptpre |
T |
A |
7: 135,272,444 (GRCm39) |
I399N |
probably damaging |
Het |
Ripply2 |
A |
G |
9: 86,898,372 (GRCm39) |
Y72C |
probably damaging |
Het |
Rp1l1 |
T |
A |
14: 64,266,837 (GRCm39) |
S808T |
possibly damaging |
Het |
Scn5a |
G |
A |
9: 119,362,838 (GRCm39) |
T594I |
probably damaging |
Het |
Sf3b1 |
T |
C |
1: 55,037,267 (GRCm39) |
D883G |
probably benign |
Het |
Skint5 |
A |
T |
4: 113,369,220 (GRCm39) |
|
probably null |
Het |
Terf1 |
A |
G |
1: 15,889,207 (GRCm39) |
H212R |
probably damaging |
Het |
Tmco5 |
T |
G |
2: 116,711,269 (GRCm39) |
|
probably null |
Het |
Tnfaip3 |
A |
T |
10: 18,882,660 (GRCm39) |
Y252* |
probably null |
Het |
Tnrc6a |
T |
A |
7: 122,770,083 (GRCm39) |
N624K |
probably damaging |
Het |
Top3a |
C |
A |
11: 60,633,615 (GRCm39) |
R827L |
probably damaging |
Het |
Unc79 |
G |
A |
12: 103,055,031 (GRCm39) |
|
probably null |
Het |
Usp20 |
T |
C |
2: 30,901,116 (GRCm39) |
S422P |
probably benign |
Het |
Utrn |
T |
C |
10: 12,509,766 (GRCm39) |
E2402G |
probably benign |
Het |
Wdr3 |
G |
A |
3: 100,063,734 (GRCm39) |
Q181* |
probably null |
Het |
Zfp536 |
T |
C |
7: 37,267,373 (GRCm39) |
E681G |
probably damaging |
Het |
Zfp91 |
C |
T |
19: 12,747,438 (GRCm39) |
V562I |
possibly damaging |
Het |
Zfp942 |
A |
T |
17: 22,148,017 (GRCm39) |
I204N |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTCAGTCACCAGTGAGGACAACAAC -3'
(R):5'- GCATCAGAGTCCAGCTCAGGAAAG -3'
Sequencing Primer
(F):5'- TTTAGGGCCTCTCCAACAGG -3'
(R):5'- AAGAGAGGACTGTGCTTTGG -3'
|
Posted On |
2013-04-24 |