Incidental Mutation 'R6831:Pacs1'
ID |
537881 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pacs1
|
Ensembl Gene |
ENSMUSG00000024855 |
Gene Name |
phosphofurin acidic cluster sorting protein 1 |
Synonyms |
|
MMRRC Submission |
044941-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6831 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
5183714-5323138 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 5210823 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 151
(I151F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025786
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025786]
|
AlphaFold |
Q8K212 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000025786
AA Change: I151F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000025786 Gene: ENSMUSG00000024855 AA Change: I151F
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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
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 |
9330159F19Rik |
T |
G |
10: 29,100,675 (GRCm39) |
D349E |
probably benign |
Het |
Adam28 |
C |
T |
14: 68,855,576 (GRCm39) |
A630T |
probably benign |
Het |
Akr1cl |
C |
T |
1: 65,053,831 (GRCm39) |
|
probably null |
Het |
Alcam |
A |
G |
16: 52,130,264 (GRCm39) |
Y29H |
probably benign |
Het |
Alg3 |
A |
T |
16: 20,427,497 (GRCm39) |
S25T |
probably damaging |
Het |
Amdhd1 |
T |
G |
10: 93,363,118 (GRCm39) |
L323F |
probably damaging |
Het |
Apcdd1 |
C |
A |
18: 63,083,197 (GRCm39) |
Y342* |
probably null |
Het |
Aqp9 |
T |
A |
9: 71,069,702 (GRCm39) |
|
probably benign |
Het |
Arhgef5 |
A |
G |
6: 43,257,933 (GRCm39) |
T1326A |
probably damaging |
Het |
Cacna1a |
T |
C |
8: 85,297,860 (GRCm39) |
V1238A |
probably damaging |
Het |
Cep128 |
T |
C |
12: 91,233,748 (GRCm39) |
D440G |
probably damaging |
Het |
Dnah5 |
G |
C |
15: 28,411,661 (GRCm39) |
G3677R |
possibly damaging |
Het |
Dst |
T |
A |
1: 34,229,765 (GRCm39) |
C2631S |
probably benign |
Het |
E330034G19Rik |
T |
C |
14: 24,346,163 (GRCm39) |
S25P |
probably benign |
Het |
Fat3 |
C |
T |
9: 15,826,357 (GRCm39) |
E4532K |
possibly damaging |
Het |
Fat3 |
C |
A |
9: 16,287,847 (GRCm39) |
V559L |
probably damaging |
Het |
Fra10ac1 |
A |
T |
19: 38,195,737 (GRCm39) |
I162K |
probably benign |
Het |
Glrx3 |
C |
T |
7: 137,060,951 (GRCm39) |
T195M |
possibly damaging |
Het |
Gm9949 |
T |
A |
18: 62,313,616 (GRCm39) |
|
probably benign |
Het |
Hbs1l |
T |
C |
10: 21,217,767 (GRCm39) |
S228P |
probably benign |
Het |
Hmcn1 |
G |
A |
1: 150,646,044 (GRCm39) |
T718I |
probably benign |
Het |
Igf1r |
T |
C |
7: 67,857,067 (GRCm39) |
S1010P |
possibly damaging |
Het |
Inpp5d |
T |
A |
1: 87,629,198 (GRCm39) |
Y394* |
probably null |
Het |
Itpr2 |
G |
A |
6: 146,013,927 (GRCm39) |
T2623M |
probably damaging |
Het |
Kif21b |
T |
A |
1: 136,072,496 (GRCm39) |
C67* |
probably null |
Het |
Lama1 |
T |
A |
17: 68,063,749 (GRCm39) |
C758S |
possibly damaging |
Het |
Mdga1 |
T |
A |
17: 30,106,490 (GRCm39) |
K274* |
probably null |
Het |
Neu2 |
G |
A |
1: 87,524,455 (GRCm39) |
G147R |
probably damaging |
Het |
Nkx1-1 |
A |
T |
5: 33,591,147 (GRCm39) |
S58R |
unknown |
Het |
Or2ag16 |
A |
T |
7: 106,351,778 (GRCm39) |
N272K |
probably damaging |
Het |
Or52e4 |
A |
G |
7: 104,706,086 (GRCm39) |
D211G |
possibly damaging |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Pamr1 |
C |
T |
2: 102,445,276 (GRCm39) |
R270C |
probably damaging |
Het |
Pclo |
C |
T |
5: 14,838,443 (GRCm39) |
Q1417* |
probably null |
Het |
Pkm |
G |
C |
9: 59,582,398 (GRCm39) |
M409I |
probably benign |
Het |
Plbd2 |
T |
A |
5: 120,631,131 (GRCm39) |
K215N |
probably benign |
Het |
Polk |
T |
C |
13: 96,631,999 (GRCm39) |
K245E |
possibly damaging |
Het |
Pramel17 |
T |
A |
4: 101,694,094 (GRCm39) |
Q263L |
probably benign |
Het |
Prl |
T |
G |
13: 27,243,530 (GRCm39) |
I65S |
probably benign |
Het |
Proser3 |
T |
C |
7: 30,239,781 (GRCm39) |
H441R |
probably benign |
Het |
Psmb3 |
A |
G |
11: 97,597,728 (GRCm39) |
K98R |
probably benign |
Het |
Ptpn20 |
T |
C |
14: 33,354,882 (GRCm39) |
V319A |
probably damaging |
Het |
Ptprj |
A |
T |
2: 90,290,991 (GRCm39) |
Y397N |
probably damaging |
Het |
Rp1 |
T |
C |
1: 4,420,087 (GRCm39) |
|
probably null |
Het |
Sgsm1 |
T |
A |
5: 113,428,246 (GRCm39) |
Y314F |
probably damaging |
Het |
Sh3pxd2a |
G |
A |
19: 47,271,532 (GRCm39) |
R244C |
probably damaging |
Het |
Sspo |
G |
A |
6: 48,461,767 (GRCm39) |
V3466M |
possibly damaging |
Het |
Syne2 |
T |
A |
12: 76,013,568 (GRCm39) |
F2921I |
probably benign |
Het |
Trank1 |
T |
A |
9: 111,206,967 (GRCm39) |
M1700K |
probably benign |
Het |
Trmt112 |
T |
A |
19: 6,887,563 (GRCm39) |
L4H |
probably damaging |
Het |
Trmu |
A |
G |
15: 85,779,207 (GRCm39) |
T285A |
probably benign |
Het |
Ttn |
A |
G |
2: 76,601,846 (GRCm39) |
|
probably null |
Het |
Vmn2r-ps158 |
G |
C |
7: 42,673,004 (GRCm39) |
A143P |
probably damaging |
Het |
Zc3hav1 |
A |
T |
6: 38,309,103 (GRCm39) |
M573K |
probably benign |
Het |
Zcchc8 |
T |
C |
5: 123,838,972 (GRCm39) |
E522G |
probably damaging |
Het |
Zfp354a |
T |
C |
11: 50,961,381 (GRCm39) |
S529P |
probably damaging |
Het |
Zfp735 |
G |
A |
11: 73,601,434 (GRCm39) |
G126D |
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 |
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 |
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'- TCAAACTGGGTTCTGGCTG -3'
(R):5'- ACCTCGTAGCCAAATTGTGTTG -3'
Sequencing Primer
(F):5'- GCTGTTTTTGGAGAATAAAGTCCTC -3'
(R):5'- GGTCATTGTCTGGTACATCAAAGCC -3'
|
Posted On |
2018-10-18 |