Incidental Mutation 'R8550:C1qc'
ID 659815
Institutional Source Beutler Lab
Gene Symbol C1qc
Ensembl Gene ENSMUSG00000036896
Gene Name complement component 1, q subcomponent, C chain
Synonyms C1qg
MMRRC Submission 068515-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8550 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 136617112-136620242 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 136617587 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 170 (V170I)
Ref Sequence ENSEMBL: ENSMUSP00000036747 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046332] [ENSMUST00000046384]
AlphaFold Q02105
Predicted Effect possibly damaging
Transcript: ENSMUST00000046332
AA Change: V170I

PolyPhen 2 Score 0.651 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000036747
Gene: ENSMUSG00000036896
AA Change: V170I

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
Meta Mutation Damage Score 0.1285 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (39/39)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402F06Rik T A 2: 35,265,786 (GRCm39) K295* probably null Het
AB124611 A T 9: 21,451,882 (GRCm39) D146V probably damaging Het
Adgrl3 A T 5: 81,942,599 (GRCm39) T1469S possibly damaging Het
Anxa7 G A 14: 20,506,593 (GRCm39) T449M probably damaging Het
Birc6 T G 17: 74,864,949 (GRCm39) S236R probably benign Het
Ccl25 A G 8: 4,377,890 (GRCm39) E50G possibly damaging Het
Clk1 A T 1: 58,451,835 (GRCm39) Y427N probably damaging Het
Cul9 C A 17: 46,830,772 (GRCm39) C1707F probably damaging Het
Cyp4f17 G A 17: 32,746,936 (GRCm39) V413I probably benign Het
Ddc A G 11: 11,785,743 (GRCm39) W315R probably damaging Het
Degs1l A T 1: 180,887,324 (GRCm39) D303V probably damaging Het
Eif1ad15 T C 12: 88,290,652 (GRCm39) probably benign Het
Eogt A C 6: 97,089,033 (GRCm39) H524Q probably benign Het
Eya4 G A 10: 22,982,157 (GRCm39) H601Y probably damaging Het
Hexa G A 9: 59,468,182 (GRCm39) A270T probably benign Het
Hmcn2 T C 2: 31,240,654 (GRCm39) probably null Het
Ighv5-17 A T 12: 113,822,904 (GRCm39) S72R possibly damaging Het
Itgad A G 7: 127,803,064 (GRCm39) T7A probably damaging Het
Mapk8 A T 14: 33,124,615 (GRCm39) I139N probably damaging Het
Metap1 G A 3: 138,172,077 (GRCm39) A280V possibly damaging Het
Mrpl35 T C 6: 71,793,259 (GRCm39) K131E probably damaging Het
Neb A G 2: 52,188,924 (GRCm39) V802A probably benign Het
Nlrp3 T G 11: 59,440,097 (GRCm39) V558G probably damaging Het
Nr3c1 A T 18: 39,619,842 (GRCm39) N148K possibly damaging Het
Or3a1c A C 11: 74,046,015 (GRCm39) I12L probably benign Het
Padi6 T C 4: 140,460,014 (GRCm39) K359R probably benign Het
Rexo5 A G 7: 119,400,568 (GRCm39) T118A probably benign Het
Serpine1 A G 5: 137,092,352 (GRCm39) V385A probably damaging Het
Slc25a25 A G 2: 32,306,205 (GRCm39) I485T probably damaging Het
Slc26a3 A T 12: 31,511,739 (GRCm39) L441F probably damaging Het
Spta1 A T 1: 174,014,774 (GRCm39) D418V probably damaging Het
Supt20 T C 3: 54,623,063 (GRCm39) V511A possibly damaging Het
Tfap2a T C 13: 40,882,225 (GRCm39) T21A probably damaging Het
Tia1 A G 6: 86,402,684 (GRCm39) M232V probably benign Het
Tmem132a T C 19: 10,837,745 (GRCm39) T522A probably benign Het
Top2a A T 11: 98,886,744 (GRCm39) D1336E probably benign Het
Trav3-1 A C 14: 52,818,390 (GRCm39) R21S probably benign Het
Utrn C A 10: 12,689,329 (GRCm39) probably benign Het
Vmn1r119 A T 7: 20,745,980 (GRCm39) V134D probably benign Het
Zfta T C 19: 7,400,320 (GRCm39) M262T probably benign Het
Other mutations in C1qc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00486:C1qc APN 4 136,617,445 (GRCm39) missense probably damaging 1.00
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
Predicted Primers PCR Primer
(F):5'- CCGTTCTAGTCGGGAAACAG -3'
(R):5'- TGTGGAGGGCCGATACAAAC -3'

Sequencing Primer
(F):5'- ATGCCCACCATGCCATTGTAG -3'
(R):5'- CAGAAGCACCAGTCGGTATTC -3'
Posted On 2021-01-18