Incidental Mutation 'R2570:C1qc'
ID 252342
Institutional Source Beutler Lab
Gene Symbol C1qc
Ensembl Gene ENSMUSG00000036896
Gene Name complement component 1, q subcomponent, C chain
Synonyms C1qg
MMRRC Submission 040428-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2570 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 136617112-136620242 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 136617402 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 231 (I231M)
Ref Sequence ENSEMBL: ENSMUSP00000036747 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046332] [ENSMUST00000046384]
AlphaFold Q02105
Predicted Effect probably benign
Transcript: ENSMUST00000046332
AA Change: I231M

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000036747
Gene: ENSMUSG00000036896
AA Change: I231M

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 94.9%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad10 T A 5: 121,768,267 (GRCm39) N763I probably damaging Het
Actr8 T C 14: 29,709,239 (GRCm39) V281A probably damaging Het
Adam1b A T 5: 121,639,811 (GRCm39) N411K probably damaging Het
Adamdec1 T A 14: 68,816,657 (GRCm39) Q77L probably damaging Het
Adgre4 T A 17: 56,085,878 (GRCm39) F59Y possibly damaging Het
Akr1c18 T C 13: 4,192,163 (GRCm39) N178S probably benign Het
Aldh1a7 T A 19: 20,677,320 (GRCm39) T434S probably benign Het
Bcl10 T A 3: 145,638,785 (GRCm39) N142K probably benign Het
Cacna1b A T 2: 24,496,649 (GRCm39) L2307* probably null Het
Cadm2 G A 16: 66,612,271 (GRCm39) S106L probably damaging Het
Cdc42bpa G A 1: 179,977,742 (GRCm39) R1518Q possibly damaging Het
Cdk12 T G 11: 98,094,618 (GRCm39) M142R possibly damaging Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,604,632 (GRCm39) probably null Het
Cspg4b C T 13: 113,455,121 (GRCm39) T389I probably benign Het
Cyp2c50 C G 19: 40,078,764 (GRCm39) H90D probably benign Het
Dach1 A G 14: 98,138,847 (GRCm39) M480T probably benign Het
Dennd1a A T 2: 37,734,795 (GRCm39) F57L probably damaging Het
Dhcr24 T C 4: 106,443,029 (GRCm39) F355L probably benign Het
Drc1 A G 5: 30,512,609 (GRCm39) R339G probably damaging Het
Efcab3 T A 11: 104,624,490 (GRCm39) S840R probably damaging Het
Efna5 A T 17: 63,188,023 (GRCm39) Y35N probably benign Het
Ehmt1 A G 2: 24,705,753 (GRCm39) V811A probably damaging Het
Fam135a A T 1: 24,061,045 (GRCm39) V1114E probably damaging Het
Frmd8 C A 19: 5,924,740 (GRCm39) R28L probably damaging Het
Gm9936 A G 5: 114,995,605 (GRCm39) probably benign Het
Hgsnat C T 8: 26,435,280 (GRCm39) W618* probably null Het
Itgal T C 7: 126,913,268 (GRCm39) F622L probably damaging Het
Kalrn C T 16: 34,130,865 (GRCm39) E451K probably damaging Het
Kat2a A T 11: 100,601,648 (GRCm39) F256I probably damaging Het
Lama4 A T 10: 38,951,354 (GRCm39) D1033V possibly damaging Het
Lama4 T A 10: 38,982,043 (GRCm39) D1757E probably damaging Het
Laptm5 T C 4: 130,659,358 (GRCm39) Y212H probably damaging Het
Lsm10 T C 4: 125,991,716 (GRCm39) L24P probably damaging Het
Mtcl3 A T 10: 29,022,761 (GRCm39) Q36L possibly damaging Het
Mtfp1 T C 11: 4,044,504 (GRCm39) E27G probably damaging Het
Ncaph2 C A 15: 89,254,678 (GRCm39) D399E probably benign Het
Ncor2 T C 5: 125,105,864 (GRCm39) probably null Het
Nek9 A C 12: 85,379,320 (GRCm39) Y195* probably null Het
Npas1 T C 7: 16,208,628 (GRCm39) D83G probably damaging Het
Nrsn2 A T 2: 152,211,741 (GRCm39) F97I possibly damaging Het
Oas1c T C 5: 120,943,503 (GRCm39) N10S probably benign Het
Or2ag12 A G 7: 106,276,874 (GRCm39) I273T probably benign Het
Or55b10 T C 7: 102,143,106 (GRCm39) N292S probably damaging Het
Or7e165 T A 9: 19,695,305 (GRCm39) L292Q probably damaging Het
Pcdha4 A T 18: 37,086,665 (GRCm39) T283S probably benign Het
Pdk1 A C 2: 71,703,904 (GRCm39) D64A possibly damaging Het
Pramel17 T C 4: 101,694,443 (GRCm39) T147A probably benign Het
Ptpdc1 C T 13: 48,739,539 (GRCm39) A631T probably benign Het
Rasal2 G T 1: 156,988,870 (GRCm39) A660E possibly damaging Het
Sgpp2 T A 1: 78,336,787 (GRCm39) V55E possibly damaging Het
Shank2 A T 7: 143,622,507 (GRCm39) I214F probably damaging Het
Slfn14 T C 11: 83,174,433 (GRCm39) N186S probably benign Het
Sptbn5 A T 2: 119,879,121 (GRCm39) noncoding transcript Het
Stradb C T 1: 59,027,743 (GRCm39) T91I probably damaging Het
Sulf2 T C 2: 165,927,721 (GRCm39) I359V probably benign Het
Tbl3 A T 17: 24,922,290 (GRCm39) M405K possibly damaging Het
Tecta G T 9: 42,243,848 (GRCm39) D2001E probably damaging Het
Tectb C G 19: 55,169,431 (GRCm39) probably benign Het
Tgfbi T A 13: 56,786,521 (GRCm39) probably null Het
Tmem132a A T 19: 10,837,106 (GRCm39) L612Q probably null Het
Tnf T C 17: 35,419,476 (GRCm39) N102S probably damaging Het
Trib3 A T 2: 152,185,156 (GRCm39) V31D probably benign Het
Ube2q2 T A 9: 55,099,140 (GRCm39) F248L probably benign Het
Usf3 T C 16: 44,036,744 (GRCm39) V408A probably benign Het
Vmn1r159 T C 7: 22,542,307 (GRCm39) M242V probably benign Het
Vmn2r105 A T 17: 20,447,585 (GRCm39) L413H probably damaging Het
Zbtb2 T G 10: 4,318,673 (GRCm39) N451T probably damaging Het
Zfp593 C A 4: 133,972,869 (GRCm39) 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
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
Predicted Primers PCR Primer
(F):5'- AACTCTGAGGAGATACAGGGCC -3'
(R):5'- AAGCACAGGGAAGTTCACC -3'

Sequencing Primer
(F):5'- GCCGATGGATCAGGAACC -3'
(R):5'- TTCACCTGTGAAGTGCCG -3'
Posted On 2014-12-04