Incidental Mutation 'IGL02324:C1qb'
ID288401
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol C1qb
Ensembl Gene ENSMUSG00000036905
Gene Namecomplement component 1, q subcomponent, beta polypeptide
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.218) question?
Stock #IGL02324
Quality Score
Status
Chromosome4
Chromosomal Location136880129-136886187 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 136880500 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Leucine at position 184 (R184L)
Ref Sequence ENSEMBL: ENSMUSP00000040246 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046384]
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: 151,497,874 C124S probably damaging Het
Aldh1a7 T C 19: 20,727,004 N42S probably damaging Het
Arhgef1 T C 7: 24,923,815 L667P probably damaging Het
Cacna1s A G 1: 136,075,176 probably benign Het
Cdk20 A G 13: 64,437,920 E244G probably benign Het
Copg2 C A 6: 30,863,534 probably null Het
Cyp2d40 A T 15: 82,760,948 probably benign Het
Cyp2j6 A G 4: 96,525,933 I365T probably damaging Het
Dhx29 A G 13: 112,927,808 K6E probably damaging Het
Dpp10 T A 1: 123,367,802 T539S probably benign Het
Ehbp1 A T 11: 22,096,048 I542K probably damaging Het
Fat1 A G 8: 45,040,556 Y3913C probably damaging Het
Flt4 C T 11: 49,645,995 T1264I probably benign Het
Fmnl1 A G 11: 103,179,538 D51G probably damaging Het
Gm17093 A G 14: 44,518,350 T25A unknown Het
Gpatch2 A G 1: 187,225,739 E97G probably damaging Het
Hcn1 T C 13: 117,902,886 L446P unknown Het
Hpse2 A T 19: 42,931,599 L354I probably damaging Het
Hspa4 A G 11: 53,300,058 probably null Het
Krtap16-1 C T 11: 99,986,303 V92M probably damaging Het
Med23 A T 10: 24,897,341 Q281L probably damaging Het
Megf8 T C 7: 25,340,448 S963P probably benign Het
Mical1 G A 10: 41,486,664 E932K possibly damaging Het
Mycbp2 A G 14: 103,242,207 S1217P probably damaging Het
Myocd C A 11: 65,178,658 L785F probably benign Het
Nell2 T C 15: 95,229,101 T798A probably damaging Het
Nfat5 T C 8: 107,366,176 probably benign Het
Olfm5 T C 7: 104,154,095 probably null Het
Olfr385 A G 11: 73,589,255 V161A probably benign Het
P2ry1 A T 3: 61,003,778 N113Y possibly damaging Het
Pan3 A G 5: 147,530,123 probably null Het
Pappa A G 4: 65,196,808 R714G probably damaging Het
Plcd1 A G 9: 119,072,642 F579L probably damaging Het
Ptprb T C 10: 116,319,333 V664A probably benign Het
Slc27a5 T A 7: 12,997,560 Q168L probably benign Het
Spag8 T C 4: 43,651,781 E395G probably damaging Het
Stfa2l1 T C 16: 36,161,768 Y70H probably damaging Het
Taf2 T C 15: 55,028,376 N1017S probably benign Het
Tnfrsf25 C A 4: 152,119,322 Q296K probably damaging Het
Trpm3 T A 19: 22,698,779 I103N probably benign Het
Other mutations in C1qb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03331:C1qb APN 4 136880293 missense probably damaging 1.00
R3891:C1qb UTSW 4 136880416 missense probably damaging 0.99
R4591:C1qb UTSW 4 136882217 missense probably damaging 1.00
R7311:C1qb UTSW 4 136880566 missense possibly damaging 0.85
X0024:C1qb UTSW 4 136880602 missense probably benign 0.10
Posted On2015-04-16