Incidental Mutation 'IGL02324:C1qb'
ID 288401
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol C1qb
Ensembl Gene ENSMUSG00000036905
Gene Name complement component 1, q subcomponent, beta polypeptide
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02324
Quality Score
Status
Chromosome 4
Chromosomal Location 136607440-136613498 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 136607811 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 184 (R184L)
Ref Sequence ENSEMBL: ENSMUSP00000040246 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046384]
AlphaFold P14106
Predicted Effect possibly damaging
Transcript: ENSMUST00000046384
AA Change: R184L

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000040246
Gene: ENSMUSG00000036905
AA Change: R184L

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
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the B-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
Adgrl4 T A 3: 151,203,511 (GRCm39) C124S probably damaging Het
Aldh1a7 T C 19: 20,704,368 (GRCm39) N42S probably damaging Het
Arhgef1 T C 7: 24,623,240 (GRCm39) L667P probably damaging Het
Cacna1s A G 1: 136,002,914 (GRCm39) probably benign Het
Cdk20 A G 13: 64,585,734 (GRCm39) E244G probably benign Het
Copg2 C A 6: 30,840,469 (GRCm39) probably null Het
Cyp2d40 A T 15: 82,645,149 (GRCm39) probably benign Het
Cyp2j6 A G 4: 96,414,170 (GRCm39) I365T probably damaging Het
Dhx29 A G 13: 113,064,342 (GRCm39) K6E probably damaging Het
Dpp10 T A 1: 123,295,531 (GRCm39) T539S probably benign Het
Ehbp1 A T 11: 22,046,048 (GRCm39) I542K probably damaging Het
Fat1 A G 8: 45,493,593 (GRCm39) Y3913C probably damaging Het
Flt4 C T 11: 49,536,822 (GRCm39) T1264I probably benign Het
Fmnl1 A G 11: 103,070,364 (GRCm39) D51G probably damaging Het
Gm17093 A G 14: 44,755,807 (GRCm39) T25A unknown Het
Gpatch2 A G 1: 186,957,936 (GRCm39) E97G probably damaging Het
Hcn1 T C 13: 118,039,422 (GRCm39) L446P unknown Het
Hpse2 A T 19: 42,920,038 (GRCm39) L354I probably damaging Het
Hspa4 A G 11: 53,190,885 (GRCm39) probably null Het
Krtap16-1 C T 11: 99,877,129 (GRCm39) V92M probably damaging Het
Med23 A T 10: 24,773,239 (GRCm39) Q281L probably damaging Het
Megf8 T C 7: 25,039,873 (GRCm39) S963P probably benign Het
Mical1 G A 10: 41,362,660 (GRCm39) E932K possibly damaging Het
Mycbp2 A G 14: 103,479,643 (GRCm39) S1217P probably damaging Het
Myocd C A 11: 65,069,484 (GRCm39) L785F probably benign Het
Nell2 T C 15: 95,126,982 (GRCm39) T798A probably damaging Het
Nfat5 T C 8: 108,092,808 (GRCm39) probably benign Het
Olfm5 T C 7: 103,803,302 (GRCm39) probably null Het
Or1e26 A G 11: 73,480,081 (GRCm39) V161A probably benign Het
P2ry1 A T 3: 60,911,199 (GRCm39) N113Y possibly damaging Het
Pan3 A G 5: 147,466,933 (GRCm39) probably null Het
Pappa A G 4: 65,115,045 (GRCm39) R714G probably damaging Het
Plcd1 A G 9: 118,901,710 (GRCm39) F579L probably damaging Het
Ptprb T C 10: 116,155,238 (GRCm39) V664A probably benign Het
Slc27a5 T A 7: 12,731,487 (GRCm39) Q168L probably benign Het
Spag8 T C 4: 43,651,781 (GRCm39) E395G probably damaging Het
Stfa2l1 T C 16: 35,982,138 (GRCm39) Y70H probably damaging Het
Taf2 T C 15: 54,891,772 (GRCm39) N1017S probably benign Het
Tnfrsf25 C A 4: 152,203,779 (GRCm39) Q296K probably damaging Het
Trpm3 T A 19: 22,676,143 (GRCm39) I103N probably benign Het
Other mutations in C1qb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03331:C1qb APN 4 136,607,604 (GRCm39) missense probably damaging 1.00
R3891:C1qb UTSW 4 136,607,727 (GRCm39) missense probably damaging 0.99
R4591:C1qb UTSW 4 136,609,528 (GRCm39) missense probably damaging 1.00
R7311:C1qb UTSW 4 136,607,877 (GRCm39) missense possibly damaging 0.85
R8153:C1qb UTSW 4 136,607,877 (GRCm39) missense possibly damaging 0.85
R8494:C1qb UTSW 4 136,608,115 (GRCm39) missense probably benign 0.01
R8981:C1qb UTSW 4 136,608,033 (GRCm39) missense probably benign 0.00
X0024:C1qb UTSW 4 136,607,913 (GRCm39) missense probably benign 0.10
Z1176:C1qb UTSW 4 136,609,456 (GRCm39) missense probably damaging 1.00
Z1177:C1qb UTSW 4 136,609,592 (GRCm39) missense probably benign
Posted On 2015-04-16