Incidental Mutation 'IGL01590:Apcs'
ID |
91560 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Apcs
|
Ensembl Gene |
ENSMUSG00000026542 |
Gene Name |
amyloid P component, serum |
Synonyms |
Sap |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.060)
|
Stock # |
IGL01590
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
172721528-172722516 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 172722034 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Aspartic acid
at position 104
(G104D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027824
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027824]
|
AlphaFold |
P12246 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027824
AA Change: G104D
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000027824 Gene: ENSMUSG00000026542 AA Change: G104D
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
PTX
|
21 |
224 |
2.27e-132 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a glycoprotein, belonging to the pentraxin family of proteins, which has a characteristic pentameric organization. These family members have considerable sequence homology which is thought to be the result of gene duplication. The binding of the encoded protein to proteins in the pathological amyloid cross-beta fold suggests its possible role as a chaperone. This protein is also thought to control the degradation of chromatin. It has been demonstrated that this protein binds to apoptotic cells at an early stage, which raises the possibility that it is involved in dealing with apoptotic cells in vivo. [provided by RefSeq, Sep 2008] PHENOTYPE: Mice homozygous for a null allele exhibit decreased antibody productions, increased autoimmune antibodies, reduced amyloidosis and glomerulonephrosis depending on strain background. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921504E06Rik |
T |
A |
2: 19,482,590 (GRCm39) |
|
probably benign |
Het |
Adgrb2 |
T |
G |
4: 129,907,606 (GRCm39) |
|
probably benign |
Het |
Atp10b |
G |
A |
11: 43,063,548 (GRCm39) |
R161H |
probably benign |
Het |
Cep250 |
A |
T |
2: 155,834,237 (GRCm39) |
Q2054L |
possibly damaging |
Het |
Dennd6a |
T |
G |
14: 26,340,507 (GRCm39) |
V207G |
probably benign |
Het |
Ehbp1 |
C |
A |
11: 22,045,611 (GRCm39) |
D688Y |
possibly damaging |
Het |
Fam83a |
C |
A |
15: 57,873,173 (GRCm39) |
S334Y |
probably damaging |
Het |
Fam83e |
T |
A |
7: 45,373,360 (GRCm39) |
F242Y |
probably null |
Het |
Fnip1 |
A |
T |
11: 54,384,126 (GRCm39) |
D341V |
probably damaging |
Het |
Gpatch3 |
A |
G |
4: 133,308,028 (GRCm39) |
|
probably benign |
Het |
Gpc2 |
C |
A |
5: 138,272,640 (GRCm39) |
V558F |
probably damaging |
Het |
H2-M10.6 |
A |
G |
17: 37,123,641 (GRCm39) |
N112D |
probably benign |
Het |
Hs6st1 |
A |
T |
1: 36,142,785 (GRCm39) |
D240V |
probably damaging |
Het |
Inpp5f |
T |
A |
7: 128,266,031 (GRCm39) |
|
probably null |
Het |
Itga8 |
G |
T |
2: 12,165,144 (GRCm39) |
H822N |
probably damaging |
Het |
Kif20b |
T |
A |
19: 34,932,126 (GRCm39) |
N1263K |
possibly damaging |
Het |
Krt28 |
A |
G |
11: 99,265,220 (GRCm39) |
|
probably null |
Het |
Muc5ac |
A |
T |
7: 141,352,630 (GRCm39) |
M706L |
probably benign |
Het |
Or1j12 |
A |
T |
2: 36,343,004 (GRCm39) |
M136L |
probably benign |
Het |
Or52h9 |
A |
C |
7: 104,202,782 (GRCm39) |
I219L |
probably benign |
Het |
Prox2 |
A |
G |
12: 85,134,845 (GRCm39) |
W479R |
probably damaging |
Het |
Rps19 |
A |
T |
7: 24,587,881 (GRCm39) |
D152V |
probably damaging |
Het |
Slc20a1 |
G |
A |
2: 129,051,146 (GRCm39) |
|
probably benign |
Het |
Slc7a2 |
C |
T |
8: 41,367,137 (GRCm39) |
P564S |
probably damaging |
Het |
Slco1a5 |
C |
A |
6: 142,196,045 (GRCm39) |
M319I |
probably benign |
Het |
Spmip2 |
A |
C |
3: 79,356,647 (GRCm39) |
N150T |
probably damaging |
Het |
Spopfm3 |
G |
A |
3: 94,105,674 (GRCm39) |
|
probably benign |
Het |
Tanc1 |
A |
G |
2: 59,615,817 (GRCm39) |
T275A |
probably benign |
Het |
Tenm3 |
A |
G |
8: 48,681,837 (GRCm39) |
S2598P |
probably damaging |
Het |
Tiparp |
G |
A |
3: 65,439,397 (GRCm39) |
E56K |
probably benign |
Het |
Trpm5 |
G |
A |
7: 142,636,471 (GRCm39) |
R489C |
probably damaging |
Het |
Vmn2r84 |
C |
A |
10: 130,221,964 (GRCm39) |
G752V |
probably damaging |
Het |
Wnt5b |
T |
A |
6: 119,417,515 (GRCm39) |
T130S |
possibly damaging |
Het |
|
Other mutations in Apcs |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0040:Apcs
|
UTSW |
1 |
172,722,023 (GRCm39) |
missense |
probably benign |
|
R0040:Apcs
|
UTSW |
1 |
172,722,023 (GRCm39) |
missense |
probably benign |
|
R0865:Apcs
|
UTSW |
1 |
172,721,782 (GRCm39) |
missense |
probably benign |
0.30 |
R1691:Apcs
|
UTSW |
1 |
172,722,160 (GRCm39) |
missense |
probably damaging |
1.00 |
R2158:Apcs
|
UTSW |
1 |
172,722,100 (GRCm39) |
missense |
probably damaging |
1.00 |
R3411:Apcs
|
UTSW |
1 |
172,722,130 (GRCm39) |
missense |
probably damaging |
1.00 |
R3949:Apcs
|
UTSW |
1 |
172,722,259 (GRCm39) |
missense |
probably damaging |
1.00 |
R4636:Apcs
|
UTSW |
1 |
172,721,989 (GRCm39) |
missense |
probably damaging |
1.00 |
R6911:Apcs
|
UTSW |
1 |
172,721,752 (GRCm39) |
missense |
probably benign |
0.02 |
R7218:Apcs
|
UTSW |
1 |
172,722,231 (GRCm39) |
missense |
possibly damaging |
0.85 |
R8143:Apcs
|
UTSW |
1 |
172,721,900 (GRCm39) |
missense |
probably damaging |
1.00 |
R8287:Apcs
|
UTSW |
1 |
172,721,814 (GRCm39) |
missense |
possibly damaging |
0.66 |
R8867:Apcs
|
UTSW |
1 |
172,722,004 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9005:Apcs
|
UTSW |
1 |
172,721,776 (GRCm39) |
missense |
probably benign |
0.41 |
R9132:Apcs
|
UTSW |
1 |
172,722,061 (GRCm39) |
missense |
probably damaging |
0.97 |
R9329:Apcs
|
UTSW |
1 |
172,722,391 (GRCm39) |
missense |
probably benign |
0.00 |
RF005:Apcs
|
UTSW |
1 |
172,721,809 (GRCm39) |
missense |
probably damaging |
1.00 |
RF024:Apcs
|
UTSW |
1 |
172,721,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-12-09 |