Incidental Mutation 'IGL00486:C1qc'
| ID |
6553 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
C1qc
|
| Ensembl Gene |
ENSMUSG00000036896 |
| Gene Name |
complement component 1, q subcomponent, C chain |
| Synonyms |
C1qg |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00486
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
136617112-136620242 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 136617445 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 217
(E217G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036747
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046332]
[ENSMUST00000046384]
|
| AlphaFold |
Q02105 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046332
AA Change: E217G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000036747
Gene: ENSMUSG00000036896
AA Change: E217G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
25 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
27 |
78 |
8.5e-9 |
PFAM |
|
low complexity region
|
95 |
110 |
N/A |
INTRINSIC |
|
C1Q
|
114 |
246 |
1.31e-69 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046384
|
| SMART Domains |
Protein: ENSMUSP00000040246
Gene: ENSMUSG00000036905
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
26 |
86 |
5e-11 |
PFAM |
|
C1Q
|
113 |
250 |
3.66e-59 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153104
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the C-chain polypeptide of serum complement subcomponent C1q, which associates with C1r and C1s to yield the first component of the serum complement system. C1q is composed of 18 polypeptide chains which include 6 A-chains, 6 B-chains, and 6 C-chains. Each chain contains an N-terminal collagen-like region and a C-terminal C1q globular domain. C1q deficiency is associated with lupus erythematosus and glomerulonephritis. [provided by RefSeq, Dec 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
G |
7: 119,846,076 (GRCm39) |
T576A |
probably damaging |
Het |
| As3mt |
A |
G |
19: 46,708,864 (GRCm39) |
E286G |
probably benign |
Het |
| Baiap3 |
G |
T |
17: 25,467,351 (GRCm39) |
|
probably benign |
Het |
| Ccser2 |
A |
G |
14: 36,662,021 (GRCm39) |
Y388H |
probably damaging |
Het |
| Clcn7 |
C |
A |
17: 25,370,097 (GRCm39) |
A328D |
probably damaging |
Het |
| Clstn1 |
G |
A |
4: 149,719,700 (GRCm39) |
R415Q |
probably damaging |
Het |
| Hcn4 |
T |
C |
9: 58,767,336 (GRCm39) |
S966P |
unknown |
Het |
| Heph |
A |
T |
X: 95,571,284 (GRCm39) |
D748V |
probably damaging |
Het |
| Herc1 |
C |
T |
9: 66,383,402 (GRCm39) |
T3691I |
probably benign |
Het |
| Hsd17b14 |
A |
G |
7: 45,216,137 (GRCm39) |
T236A |
possibly damaging |
Het |
| Kif28 |
C |
A |
1: 179,530,081 (GRCm39) |
L693F |
probably damaging |
Het |
| Mnd1 |
T |
C |
3: 84,045,505 (GRCm39) |
E33G |
possibly damaging |
Het |
| Nbas |
T |
G |
12: 13,503,076 (GRCm39) |
D1520E |
probably benign |
Het |
| Poli |
C |
T |
18: 70,658,561 (GRCm39) |
G81R |
probably damaging |
Het |
| Pou6f2 |
G |
A |
13: 18,314,170 (GRCm39) |
S401F |
probably damaging |
Het |
| Ppp1r3c |
G |
A |
19: 36,711,324 (GRCm39) |
R149W |
probably damaging |
Het |
| Ptprc |
C |
A |
1: 138,043,359 (GRCm39) |
C64F |
probably damaging |
Het |
| Ptprz1 |
T |
C |
6: 22,973,053 (GRCm39) |
Y274H |
probably damaging |
Het |
| Ranbp2 |
T |
A |
10: 58,313,434 (GRCm39) |
L1385I |
probably benign |
Het |
| Sgms1 |
A |
T |
19: 32,137,025 (GRCm39) |
F180L |
probably damaging |
Het |
| Slc7a9 |
T |
A |
7: 35,160,312 (GRCm39) |
M396K |
probably damaging |
Het |
| Syt17 |
T |
C |
7: 118,033,513 (GRCm39) |
D165G |
probably damaging |
Het |
| Tnxb |
T |
C |
17: 34,911,356 (GRCm39) |
L1553P |
probably damaging |
Het |
| Trim31 |
C |
A |
17: 37,220,133 (GRCm39) |
Q350K |
probably benign |
Het |
| Wnk3 |
A |
G |
X: 150,016,025 (GRCm39) |
R494G |
probably damaging |
Het |
| Zmym6 |
A |
G |
4: 127,017,978 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in C1qc |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02644:C1qc
|
APN |
4 |
136,617,629 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL03218:C1qc
|
APN |
4 |
136,617,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1266:C1qc
|
UTSW |
4 |
136,617,668 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R2570:C1qc
|
UTSW |
4 |
136,617,402 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4095:C1qc
|
UTSW |
4 |
136,617,637 (GRCm39) |
missense |
probably benign |
0.25 |
|
R4855:C1qc
|
UTSW |
4 |
136,617,746 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5443:C1qc
|
UTSW |
4 |
136,619,804 (GRCm39) |
unclassified |
probably benign |
|
|
R5572:C1qc
|
UTSW |
4 |
136,619,773 (GRCm39) |
missense |
probably benign |
0.36 |
|
R7750:C1qc
|
UTSW |
4 |
136,617,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8550:C1qc
|
UTSW |
4 |
136,617,587 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
| Posted On |
2012-04-20 |
Incidental Mutation