Incidental Mutation 'R0974:Pacs1'
| ID |
83053 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pacs1
|
| Ensembl Gene |
ENSMUSG00000024855 |
| Gene Name |
phosphofurin acidic cluster sorting protein 1 |
| Synonyms |
|
| MMRRC Submission |
039103-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0974 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
5183714-5323138 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 5193857 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 557
(D557E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025786
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025786]
|
| AlphaFold |
Q8K212 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025786
AA Change: D557E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000025786
Gene: ENSMUSG00000024855
AA Change: D557E
| 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 |
0.8161 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.8%
- 10x: 96.5%
- 20x: 91.9%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503L19Rik |
T |
A |
18: 70,600,997 (GRCm39) |
|
probably null |
Het |
| Adam18 |
T |
C |
8: 25,137,869 (GRCm39) |
T324A |
probably benign |
Het |
| AI429214 |
A |
G |
8: 37,461,473 (GRCm39) |
Q207R |
probably benign |
Het |
| Atp13a1 |
T |
C |
8: 70,254,794 (GRCm39) |
|
probably null |
Het |
| Atp6v0a1 |
T |
A |
11: 100,946,317 (GRCm39) |
L770* |
probably null |
Het |
| B3gnt5 |
T |
A |
16: 19,588,760 (GRCm39) |
D326E |
probably damaging |
Het |
| Btbd9 |
T |
A |
17: 30,518,607 (GRCm39) |
D451V |
probably damaging |
Het |
| Cd46 |
T |
C |
1: 194,724,300 (GRCm39) |
*366W |
probably null |
Het |
| Cdcp3 |
T |
C |
7: 130,839,911 (GRCm39) |
L611P |
probably damaging |
Het |
| Cenpc1 |
A |
T |
5: 86,185,767 (GRCm39) |
V248E |
probably damaging |
Het |
| Chd2 |
A |
G |
7: 73,128,412 (GRCm39) |
S858P |
probably damaging |
Het |
| Cxcl1 |
A |
T |
5: 91,039,626 (GRCm39) |
K85* |
probably null |
Het |
| Daam1 |
A |
C |
12: 71,962,558 (GRCm39) |
K90T |
unknown |
Het |
| Dip2c |
G |
A |
13: 9,626,944 (GRCm39) |
A632T |
probably damaging |
Het |
| Dmtf1 |
T |
A |
5: 9,177,987 (GRCm39) |
I391F |
possibly damaging |
Het |
| Dnah14 |
T |
C |
1: 181,579,710 (GRCm39) |
V3081A |
probably damaging |
Het |
| Dnah9 |
A |
T |
11: 65,896,663 (GRCm39) |
|
probably null |
Het |
| Efemp1 |
A |
G |
11: 28,804,538 (GRCm39) |
E22G |
probably damaging |
Het |
| Ephb6 |
A |
G |
6: 41,591,038 (GRCm39) |
D65G |
probably damaging |
Het |
| Fsip2 |
A |
T |
2: 82,807,436 (GRCm39) |
T1252S |
probably benign |
Het |
| Golga4 |
T |
C |
9: 118,366,341 (GRCm39) |
I365T |
probably damaging |
Het |
| Gp2 |
A |
T |
7: 119,053,766 (GRCm39) |
L65Q |
probably damaging |
Het |
| Ice1 |
C |
A |
13: 70,750,546 (GRCm39) |
V1847L |
probably benign |
Het |
| Kbtbd7 |
A |
G |
14: 79,664,870 (GRCm39) |
E234G |
possibly damaging |
Het |
| Khsrp |
T |
C |
17: 57,332,576 (GRCm39) |
T235A |
probably benign |
Het |
| Klk13 |
T |
C |
7: 43,370,582 (GRCm39) |
|
probably null |
Het |
| Lrfn5 |
G |
A |
12: 61,890,223 (GRCm39) |
G504D |
probably damaging |
Het |
| Map6 |
G |
A |
7: 98,985,950 (GRCm39) |
G821D |
possibly damaging |
Het |
| Myh13 |
T |
A |
11: 67,223,346 (GRCm39) |
I222N |
probably damaging |
Het |
| Myh7b |
G |
A |
2: 155,462,347 (GRCm39) |
C350Y |
probably benign |
Het |
| Nfix |
G |
A |
8: 85,453,155 (GRCm39) |
R300C |
probably damaging |
Het |
| Olfm3 |
C |
A |
3: 114,895,635 (GRCm39) |
S172R |
probably benign |
Het |
| Or13e8 |
A |
G |
4: 43,696,706 (GRCm39) |
S156P |
probably damaging |
Het |
| Or1j14 |
A |
G |
2: 36,418,020 (GRCm39) |
I199V |
probably benign |
Het |
| Or4c1 |
A |
T |
2: 89,133,528 (GRCm39) |
I136N |
probably damaging |
Het |
| Or5d40 |
A |
T |
2: 88,015,322 (GRCm39) |
T34S |
probably benign |
Het |
| Phactr2 |
T |
C |
10: 13,122,883 (GRCm39) |
D343G |
possibly damaging |
Het |
| Pkd2l2 |
A |
G |
18: 34,561,305 (GRCm39) |
T438A |
probably damaging |
Het |
| Pld2 |
T |
C |
11: 70,447,907 (GRCm39) |
W857R |
probably damaging |
Het |
| Rilpl1 |
A |
G |
5: 124,639,951 (GRCm39) |
I122T |
possibly damaging |
Het |
| Rilpl1 |
A |
G |
5: 124,639,934 (GRCm39) |
S156P |
probably benign |
Het |
| Rims4 |
C |
T |
2: 163,705,849 (GRCm39) |
V262M |
possibly damaging |
Het |
| Saxo2 |
A |
G |
7: 82,284,078 (GRCm39) |
V260A |
probably benign |
Het |
| Slc33a1 |
A |
G |
3: 63,850,725 (GRCm39) |
F533S |
probably benign |
Het |
| Slc38a4 |
C |
T |
15: 96,903,739 (GRCm39) |
V421M |
probably benign |
Het |
| Snx14 |
A |
G |
9: 88,282,774 (GRCm39) |
|
probably null |
Het |
| Sri |
A |
T |
5: 8,109,381 (GRCm39) |
Q55L |
probably damaging |
Het |
| Taf2 |
GCTTCTTCTTCTTCTTCTT |
GCTTCTTCTTCTTCTT |
15: 54,879,857 (GRCm39) |
|
probably benign |
Het |
| Tm9sf1 |
T |
C |
14: 55,880,392 (GRCm39) |
T2A |
possibly damaging |
Het |
| Tmco5 |
A |
G |
2: 116,713,699 (GRCm39) |
T122A |
probably benign |
Het |
| Tmem59l |
G |
A |
8: 70,938,710 (GRCm39) |
P124S |
possibly damaging |
Het |
| Trpv6 |
T |
A |
6: 41,602,122 (GRCm39) |
T396S |
probably benign |
Het |
| Usp24 |
T |
A |
4: 106,228,276 (GRCm39) |
Y780* |
probably null |
Het |
| Usp24 |
A |
G |
4: 106,270,875 (GRCm39) |
|
probably null |
Het |
| Utp25 |
A |
T |
1: 192,797,011 (GRCm39) |
N573K |
probably damaging |
Het |
| Vmn2r53 |
A |
G |
7: 12,335,319 (GRCm39) |
F114L |
probably damaging |
Het |
| Zfp626 |
G |
A |
7: 27,517,907 (GRCm39) |
R296H |
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 |
|
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 |
|
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'- AAGGGTTCCAAATGCCCATGTCCAG -3'
(R):5'- TCCAAGGACACTGATCTTCCTCCAC -3'
Sequencing Primer
(F):5'- TCCTTGGAACCAACGTCTATGAG -3'
(R):5'- CCACATCTCCATTTTAGTTTGACC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation