Incidental Mutation 'IGL03331:C1qb'
ID 416877
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 # IGL03331
Quality Score
Status
Chromosome 4
Chromosomal Location 136607440-136613498 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 136607604 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 253 (A253V)
Ref Sequence ENSEMBL: ENSMUSP00000040246 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046384]
AlphaFold P14106
Predicted Effect probably damaging
Transcript: ENSMUST00000046384
AA Change: A253V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000040246
Gene: ENSMUSG00000036905
AA Change: A253V

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap11 C A 14: 78,751,305 (GRCm39) D361Y probably damaging Het
Arhgap10 T C 8: 78,146,711 (GRCm39) N231S probably damaging Het
Asb15 A T 6: 24,556,523 (GRCm39) D6V possibly damaging Het
Ccdc178 G T 18: 21,944,640 (GRCm39) probably null Het
Chst15 A G 7: 131,864,442 (GRCm39) L387P probably damaging Het
Clca3b T A 3: 144,533,724 (GRCm39) E550D probably benign Het
Dnah5 A G 15: 28,420,086 (GRCm39) K3795E probably damaging Het
Dppa2 T C 16: 48,134,242 (GRCm39) probably benign Het
Epb41l5 T C 1: 119,545,149 (GRCm39) Y220C probably damaging Het
Fkbpl C T 17: 34,864,661 (GRCm39) T143I probably damaging Het
Gbe1 T G 16: 70,230,466 (GRCm39) Y155D probably damaging Het
Gm1979 T C 5: 26,207,008 (GRCm39) K69R probably damaging Het
Gna14 G A 19: 16,586,832 (GRCm39) V336M probably damaging Het
Gpr37 A G 6: 25,669,728 (GRCm39) V372A probably benign Het
H2bc12 T C 13: 22,220,443 (GRCm39) probably benign Het
Herc2 C A 7: 55,785,015 (GRCm39) probably benign Het
Krt20 T C 11: 99,326,256 (GRCm39) probably null Het
Lman1 T C 18: 66,126,275 (GRCm39) T284A probably benign Het
Matn2 A T 15: 34,345,503 (GRCm39) D170V probably damaging Het
Morc1 C A 16: 48,432,731 (GRCm39) probably benign Het
Necap1 T A 6: 122,857,376 (GRCm39) S34T probably benign Het
Nt5c3b T C 11: 100,327,041 (GRCm39) Y85C probably damaging Het
Or2t6 C A 14: 14,176,017 (GRCm38) A22S probably benign Het
Or5b102 T A 19: 13,041,231 (GRCm39) L152H probably damaging Het
Papln A G 12: 83,830,435 (GRCm39) M1016V probably benign Het
Pld1 T C 3: 28,139,994 (GRCm39) F605L probably damaging Het
Rbms2 T A 10: 127,969,504 (GRCm39) probably benign Het
Rps6kb1 A T 11: 86,423,656 (GRCm39) V108E probably damaging Het
Scap T C 9: 110,209,304 (GRCm39) probably null Het
Serpina1f T C 12: 103,657,150 (GRCm39) I307M probably benign Het
Tchh A G 3: 93,350,725 (GRCm39) D55G probably damaging Het
Tnfaip3 G T 10: 18,887,349 (GRCm39) Q59K possibly damaging Het
Vcan A G 13: 89,810,051 (GRCm39) C2287R probably damaging Het
Vmn2r6 T C 3: 64,445,428 (GRCm39) N766D probably damaging Het
Other mutations in C1qb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02324:C1qb APN 4 136,607,811 (GRCm39) missense possibly damaging 0.93
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 2016-08-02