Incidental Mutation 'R7750:C1qc'
ID 597143
Institutional Source Beutler Lab
Gene Symbol C1qc
Ensembl Gene ENSMUSG00000036896
Gene Name complement component 1, q subcomponent, C chain
Synonyms C1qg
MMRRC Submission 045806-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7750 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 136617112-136620242 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 136617592 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 168 (Y168C)
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: Y168C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000036747
Gene: ENSMUSG00000036896
AA Change: Y168C

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (56/56)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T A 6: 23,075,199 (GRCm39) D816V possibly damaging Het
Abca16 A T 7: 120,113,928 (GRCm39) N933I probably benign Het
Acly A T 11: 100,368,839 (GRCm39) probably null Het
Acox1 C T 11: 116,074,406 (GRCm39) G105D possibly damaging Het
Ankrd24 A G 10: 81,482,628 (GRCm39) E939G possibly damaging Het
Bard1 T A 1: 71,106,101 (GRCm39) probably null Het
Brd4 G T 17: 32,432,521 (GRCm39) N579K unknown Het
Casp6 A G 3: 129,705,858 (GRCm39) D175G probably damaging Het
Ccdc83 A T 7: 89,873,190 (GRCm39) Y388* probably null Het
Clasrp A T 7: 19,318,516 (GRCm39) *628R probably null Het
Cox4i1 A G 8: 121,400,049 (GRCm39) I111V probably benign Het
Cpvl T A 6: 53,903,886 (GRCm39) D293V probably damaging Het
Epb41l4b C T 4: 57,076,913 (GRCm39) probably null Het
Frem2 C A 3: 53,431,103 (GRCm39) L2743F possibly damaging Het
Frmd4a A T 2: 4,606,160 (GRCm39) H628L probably benign Het
Fyb1 A G 15: 6,690,184 (GRCm39) D809G probably damaging Het
Gm19410 T A 8: 36,274,652 (GRCm39) M1491K possibly damaging Het
Gm3604 G A 13: 62,517,810 (GRCm39) H183Y possibly damaging Het
H1f7 A G 15: 98,154,565 (GRCm39) S195P unknown Het
Lama2 T C 10: 26,866,920 (GRCm39) Y2858C probably damaging Het
Methig1 T C 15: 100,251,412 (GRCm39) F108L probably benign Het
Mfsd4b5 A G 10: 39,846,251 (GRCm39) V443A probably damaging Het
Muc5ac G C 7: 141,363,040 (GRCm39) G2117A unknown Het
Myh9 C T 15: 77,667,610 (GRCm39) V608I probably benign Het
Myo1g T C 11: 6,464,849 (GRCm39) D475G probably damaging Het
Neb A C 2: 52,170,728 (GRCm39) probably null Het
Nlrp1b T A 11: 71,059,665 (GRCm39) I769F probably benign Het
Nol8 G T 13: 49,815,742 (GRCm39) V617F possibly damaging Het
Or2d2b A T 7: 106,705,740 (GRCm39) C109* probably null Het
Pik3r2 A G 8: 71,223,545 (GRCm39) F346S probably damaging Het
Pou3f3 T A 1: 42,737,308 (GRCm39) F335I probably damaging Het
Ppp1r3e T C 14: 55,114,084 (GRCm39) D196G probably damaging Het
Prpf40a T C 2: 53,041,757 (GRCm39) T545A probably damaging Het
Rictor C T 15: 6,801,635 (GRCm39) S441L probably benign Het
Rprd1a T A 18: 24,641,311 (GRCm39) K102* probably null Het
Sim1 A G 10: 50,772,131 (GRCm39) T47A possibly damaging Het
Slc45a1 C T 4: 150,728,498 (GRCm39) A102T probably damaging Het
Slc6a11 C T 6: 114,207,098 (GRCm39) P361S possibly damaging Het
Slc9b2 T C 3: 135,031,998 (GRCm39) F286S probably damaging Het
Slco4a1 T C 2: 180,113,030 (GRCm39) S421P probably benign Het
Snap91 A C 9: 86,680,762 (GRCm39) probably null Het
Sppl2a A G 2: 126,761,625 (GRCm39) L293P probably damaging Het
Sval3 T A 6: 41,949,360 (GRCm39) I66K possibly damaging Het
Synj2bp T C 12: 81,551,311 (GRCm39) I85V probably benign Het
Thop1 G T 10: 80,916,025 (GRCm39) A403S probably benign Het
Timd4 T A 11: 46,706,354 (GRCm39) M52K probably damaging Het
Tmco5b A G 2: 113,118,609 (GRCm39) N111D probably damaging Het
Trip10 G A 17: 57,568,667 (GRCm39) V419I possibly damaging Het
Trpv3 T C 11: 73,176,847 (GRCm39) Y409H probably damaging Het
Tulp4 A G 17: 6,283,399 (GRCm39) T1143A probably damaging Het
Ugt2b5 A T 5: 87,288,108 (GRCm39) S20T probably benign Het
Unc5b A G 10: 60,610,823 (GRCm39) F406L probably benign Het
Usf3 A G 16: 44,040,884 (GRCm39) E1788G probably benign Het
Usp45 A G 4: 21,780,430 (GRCm39) D27G probably damaging Het
Vmn2r100 G A 17: 19,742,726 (GRCm39) V367I probably benign Het
Vmn2r49 T A 7: 9,710,185 (GRCm39) K849I probably damaging Het
Zfp119b A T 17: 56,245,682 (GRCm39) H501Q probably damaging Het
Zfp462 C A 4: 55,016,958 (GRCm39) H893N probably benign Het
Zkscan4 A G 13: 21,663,525 (GRCm39) E88G probably damaging 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
R8550:C1qc UTSW 4 136,617,587 (GRCm39) missense possibly damaging 0.65
Predicted Primers PCR Primer
(F):5'- TCTAGTCGGGAAACAGTAGGAAACC -3'
(R):5'- TGTGGAGGGCCGATACAAAC -3'

Sequencing Primer
(F):5'- ACCATGCCATTGTAGTCATTGACTG -3'
(R):5'- CAGAAGCACCAGTCGGTATTC -3'
Posted On 2019-11-26