Incidental Mutation 'R4095:C1qc'
ID 317839
Institutional Source Beutler Lab
Gene Symbol C1qc
Ensembl Gene ENSMUSG00000036896
Gene Name complement component 1, q subcomponent, C chain
Synonyms C1qg
MMRRC Submission 040858-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4095 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 136617112-136620242 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 136617637 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 153 (N153S)
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: N153S

PolyPhen 2 Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000036747
Gene: ENSMUSG00000036896
AA Change: N153S

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.8%
Validation Efficiency 97% (59/61)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap6 A T 12: 53,186,245 (GRCm39) I1220L probably damaging Het
Alas1 G T 9: 106,119,000 (GRCm39) probably null Het
Apba1 A T 19: 23,921,388 (GRCm39) Q737L probably benign Het
Arvcf T A 16: 18,220,327 (GRCm39) D564E probably damaging Het
Bcl11b G T 12: 107,883,094 (GRCm39) P335Q probably damaging Het
Brd9 G A 13: 74,092,918 (GRCm39) V302I probably benign Het
Brinp3 C A 1: 146,777,430 (GRCm39) H626N possibly damaging Het
Casp3 G A 8: 47,087,251 (GRCm39) G66D probably damaging Het
Coq7 T G 7: 118,126,701 (GRCm39) probably null Het
Dach1 C T 14: 98,138,815 (GRCm39) V491M possibly damaging Het
Dda1 A G 8: 71,926,436 (GRCm39) T52A possibly damaging Het
Entpd7 A G 19: 43,692,640 (GRCm39) Y65C probably damaging Het
Fmnl2 A G 2: 52,991,535 (GRCm39) D350G probably damaging Het
Foxn3 G T 12: 99,162,700 (GRCm39) D400E probably damaging Het
Gbp2 A G 3: 142,343,210 (GRCm39) T576A probably benign Het
Gm15446 T A 5: 110,088,590 (GRCm39) probably null Het
Gtf2a1 G T 12: 91,542,411 (GRCm39) T57K possibly damaging Het
Hps5 T C 7: 46,425,218 (GRCm39) E494G probably benign Het
Htr2a G A 14: 74,943,789 (GRCm39) M456I probably benign Het
Hydin A G 8: 111,268,179 (GRCm39) N2886S probably damaging Het
Ighv2-6-8 T C 12: 113,759,773 (GRCm39) Y112C probably damaging Het
Kcnf1 A T 12: 17,225,480 (GRCm39) L247Q possibly damaging Het
Kndc1 A G 7: 139,516,938 (GRCm39) M1606V possibly damaging Het
Krt27 T C 11: 99,236,619 (GRCm39) T431A probably benign Het
Lama4 A T 10: 38,973,118 (GRCm39) I1562F probably damaging Het
Lrig1 T C 6: 94,590,559 (GRCm39) D487G probably benign Het
Lrp1b G A 2: 41,339,203 (GRCm39) T880I probably benign Het
Ltbp4 A G 7: 27,024,641 (GRCm39) V663A possibly damaging Het
Mapt T C 11: 104,201,362 (GRCm39) probably null Het
Mpdz A T 4: 81,302,060 (GRCm39) V229D possibly damaging Het
Or10am5 T A 7: 6,518,252 (GRCm39) S59C possibly damaging Het
Or6e1 T C 14: 54,520,188 (GRCm39) T55A probably benign Het
Or8s10 T C 15: 98,335,563 (GRCm39) L71P probably damaging Het
Parm1 T C 5: 91,742,039 (GRCm39) S136P probably benign Het
Pcdhgb2 T A 18: 37,824,003 (GRCm39) S331R probably benign Het
Pdxk T C 10: 78,300,644 (GRCm39) H13R probably damaging Het
Ppp1r12c T C 7: 4,486,366 (GRCm39) E601G probably damaging Het
Rell1 C A 5: 64,126,013 (GRCm39) V22L probably benign Het
Sema6c T A 3: 95,080,505 (GRCm39) L901Q probably benign Het
Sfswap A G 5: 129,637,805 (GRCm39) S821G possibly damaging Het
Slc22a23 A G 13: 34,489,189 (GRCm39) L116P probably damaging Het
Slit1 A T 19: 41,596,925 (GRCm39) probably benign Het
Spns1 T C 7: 125,969,958 (GRCm39) T481A probably damaging Het
Tmem104 T A 11: 115,134,749 (GRCm39) Y427* probably null Het
Tmem74 G A 15: 43,730,678 (GRCm39) Q122* probably null Het
Tnpo2 T A 8: 85,765,048 (GRCm39) L10Q probably damaging Het
Trav6-2 G T 14: 52,905,272 (GRCm39) A98S probably benign Het
Ttll5 A T 12: 86,003,376 (GRCm39) R214* probably null Het
Ube2b A C 11: 51,888,654 (GRCm39) V39G possibly damaging Het
Vmn1r185 A T 7: 26,311,208 (GRCm39) V99E probably damaging Het
Wnk1 G A 6: 119,925,087 (GRCm39) T1459I probably damaging Het
Zc3h7a T C 16: 10,963,099 (GRCm39) K754R probably damaging Het
Zfp605 A G 5: 110,275,602 (GRCm39) K240R probably damaging Het
Zfp61 A G 7: 23,990,700 (GRCm39) probably null 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
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'- CTGATAGCCACACCTCATCG -3'
(R):5'- ATGGGCTACAGGTCATTGCC -3'

Sequencing Primer
(F):5'- TCATCGCCCCTCTGGAG -3'
(R):5'- CCACCGTGGGAAAAATGGCC -3'
Posted On 2015-05-15