Incidental Mutation 'IGL00486:C1qc'
ID6553
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol C1qc
Ensembl Gene ENSMUSG00000036896
Gene Namecomplement component 1, q subcomponent, C chain
SynonymsC1qg
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00486
Quality Score
Status
Chromosome4
Chromosomal Location136889804-136893065 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 136890134 bp
ZygosityHeterozygous
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]
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A G 7: 120,246,853 T576A probably damaging Het
As3mt A G 19: 46,720,425 E286G probably benign Het
Baiap3 G T 17: 25,248,377 probably benign Het
Ccser2 A G 14: 36,940,064 Y388H probably damaging Het
Clcn7 C A 17: 25,151,123 A328D probably damaging Het
Clstn1 G A 4: 149,635,243 R415Q probably damaging Het
Hcn4 T C 9: 58,860,053 S966P unknown Het
Heph A T X: 96,527,678 D748V probably damaging Het
Herc1 C T 9: 66,476,120 T3691I probably benign Het
Hsd17b14 A G 7: 45,566,713 T236A possibly damaging Het
Kif28 C A 1: 179,702,516 L693F probably damaging Het
Mnd1 T C 3: 84,138,198 E33G possibly damaging Het
Nbas T G 12: 13,453,075 D1520E probably benign Het
Poli C T 18: 70,525,490 G81R probably damaging Het
Pou6f2 G A 13: 18,139,585 S401F probably damaging Het
Ppp1r3c G A 19: 36,733,924 R149W probably damaging Het
Ptprc C A 1: 138,115,621 C64F probably damaging Het
Ptprz1 T C 6: 22,973,054 Y274H probably damaging Het
Ranbp2 T A 10: 58,477,612 L1385I probably benign Het
Sgms1 A T 19: 32,159,625 F180L probably damaging Het
Slc7a9 T A 7: 35,460,887 M396K probably damaging Het
Syt17 T C 7: 118,434,290 D165G probably damaging Het
Tnxb T C 17: 34,692,382 L1553P probably damaging Het
Trim31 C A 17: 36,909,241 Q350K probably benign Het
Wnk3 A G X: 151,233,029 R494G probably damaging Het
Zmym6 A G 4: 127,124,185 probably benign Het
Other mutations in C1qc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02644:C1qc APN 4 136890318 missense possibly damaging 0.83
IGL03218:C1qc APN 4 136890287 missense probably damaging 1.00
R1266:C1qc UTSW 4 136890357 missense possibly damaging 0.46
R2570:C1qc UTSW 4 136890091 missense probably benign 0.04
R4095:C1qc UTSW 4 136890326 missense probably benign 0.25
R4855:C1qc UTSW 4 136890435 missense probably benign 0.31
R5443:C1qc UTSW 4 136892493 unclassified probably benign
R5572:C1qc UTSW 4 136892462 missense probably benign 0.36
R7750:C1qc UTSW 4 136890281 missense probably damaging 1.00
Posted On2012-04-20