Incidental Mutation 'R4591:C1qb'
ID 342811
Institutional Source Beutler Lab
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 # R4591 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 136607440-136613498 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 136609528 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Tryptophan at position 31 (G31W)
Ref Sequence ENSEMBL: ENSMUSP00000040246 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046384]
AlphaFold P14106
Predicted Effect probably damaging
Transcript: ENSMUST00000046384
AA Change: G31W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000040246
Gene: ENSMUSG00000036905
AA Change: G31W

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
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110032F04Rik T C 3: 68,777,599 (GRCm39) S187P possibly damaging Het
4932438H23Rik T C 16: 90,852,959 (GRCm39) N59S probably damaging Het
Abca15 A T 7: 119,981,636 (GRCm39) D1030V probably damaging Het
Acmsd A T 1: 127,676,934 (GRCm39) N153I probably damaging Het
Adprh C A 16: 38,266,345 (GRCm39) V266L probably benign Het
Aldh5a1 G A 13: 25,107,991 (GRCm39) P217S probably damaging Het
Alpk2 A T 18: 65,438,894 (GRCm39) L1300Q probably benign Het
Alyref C T 11: 120,486,799 (GRCm39) R154Q probably benign Het
Ano6 T A 15: 95,841,308 (GRCm39) C468* probably null Het
Aox3 A T 1: 58,191,815 (GRCm39) I456F probably damaging Het
Art4 A G 6: 136,831,755 (GRCm39) Y129H probably damaging Het
Asb16 C A 11: 102,167,551 (GRCm39) H306N probably damaging Het
Atp8a2 C A 14: 59,892,078 (GRCm39) R1090L probably benign Het
Brap G T 5: 121,800,113 (GRCm39) V1F probably null Het
Cacna2d4 T C 6: 119,275,425 (GRCm39) Y666H probably benign Het
Casr T C 16: 36,320,732 (GRCm39) N472S probably benign Het
Ccdc91 T G 6: 147,491,963 (GRCm39) S282A unknown Het
Cd300lg A G 11: 101,937,006 (GRCm39) T164A probably benign Het
Cd79b A T 11: 106,202,872 (GRCm39) D243E probably damaging Het
Cdh6 C A 15: 13,051,572 (GRCm39) V354F possibly damaging Het
Cdhr2 A G 13: 54,863,497 (GRCm39) N126S probably benign Het
Cep192 A T 18: 67,968,039 (GRCm39) N841I probably damaging Het
Cngb1 T C 8: 95,980,012 (GRCm39) T963A probably damaging Het
Col16a1 A G 4: 129,955,592 (GRCm39) probably null Het
Coro1a A G 7: 126,302,164 (GRCm39) V61A probably damaging Het
Crocc T A 4: 140,745,983 (GRCm39) D1712V probably damaging Het
Ddn T C 15: 98,705,687 (GRCm39) D3G possibly damaging Het
Dnal1 T C 12: 84,180,627 (GRCm39) F89S probably benign Het
Dusp3 T A 11: 101,864,446 (GRCm39) probably benign Het
Dyrk3 C A 1: 131,057,895 (GRCm39) G58C probably damaging Het
Fat1 T C 8: 45,479,279 (GRCm39) F2775S probably benign Het
Frk A G 10: 34,481,829 (GRCm39) N373S probably benign Het
Glmn A G 5: 107,708,917 (GRCm39) probably null Het
Gm11565 A T 11: 99,805,769 (GRCm39) T54S possibly damaging Het
Gm14410 A G 2: 176,885,820 (GRCm39) I148T possibly damaging Het
Gm21834 T A 17: 58,048,880 (GRCm39) H112L possibly damaging Het
Gm5862 A G 5: 26,224,486 (GRCm39) I161T possibly damaging Het
Grid2 G T 6: 64,297,086 (GRCm39) G483V probably damaging Het
Hfm1 A T 5: 106,995,533 (GRCm39) S1293T probably benign Het
Il1a G A 2: 129,148,447 (GRCm39) R88W probably damaging Het
Il20rb A T 9: 100,357,043 (GRCm39) V29D possibly damaging Het
Ilvbl C T 10: 78,419,139 (GRCm39) L463F probably benign Het
Kif17 A G 4: 138,005,110 (GRCm39) E225G probably benign Het
Lrp2 A G 2: 69,366,419 (GRCm39) F227L probably damaging Het
Lrrc43 A G 5: 123,639,227 (GRCm39) M419V probably benign Het
Magel2 A G 7: 62,030,837 (GRCm39) Q1247R unknown Het
Mamdc4 T A 2: 25,454,609 (GRCm39) M1068L possibly damaging Het
Mdn1 T G 4: 32,707,636 (GRCm39) S1642A probably damaging Het
Mtarc1 T C 1: 184,539,365 (GRCm39) E102G probably benign Het
Mtcl1 T C 17: 66,655,506 (GRCm39) E819G probably benign Het
Naa15 T C 3: 51,349,345 (GRCm39) L38P probably damaging Het
Nlrp3 A G 11: 59,440,048 (GRCm39) R542G probably benign Het
Or10c1 C T 17: 37,522,010 (GRCm39) V245I probably benign Het
Or4d2b A G 11: 87,780,375 (GRCm39) S116P probably benign Het
Or5ac19 A C 16: 59,089,776 (GRCm39) F85V possibly damaging Het
Or5b125-ps1 ACAC ACACGCAC 19: 13,056,266 (GRCm39) noncoding transcript Het
Pbxip1 T A 3: 89,353,467 (GRCm39) L249Q probably benign Het
Pla2g7 T C 17: 43,911,450 (GRCm39) S201P probably damaging Het
Psmd1 G T 1: 86,055,926 (GRCm39) V763F probably benign Het
Ptp4a2 A G 4: 129,740,308 (GRCm39) E124G probably benign Het
Rab6b T C 9: 103,044,373 (GRCm39) probably null Het
Rbks T A 5: 31,817,352 (GRCm39) K139M possibly damaging Het
Rgs22 T A 15: 36,100,282 (GRCm39) E268D probably benign Het
Slc16a9 T G 10: 70,118,710 (GRCm39) L343R probably damaging Het
Smagp T C 15: 100,519,860 (GRCm39) I55V probably damaging Het
Sox13 T C 1: 133,311,421 (GRCm39) S604G probably damaging Het
St6gal1 G T 16: 23,140,044 (GRCm39) V72F probably benign Het
Stxbp4 A G 11: 90,485,606 (GRCm39) V247A probably benign Het
Susd3 A T 13: 49,384,736 (GRCm39) M217K possibly damaging Het
Tas2r129 T A 6: 132,928,574 (GRCm39) N170K probably benign Het
Tmem245 C A 4: 56,910,204 (GRCm39) A515S probably damaging Het
Tpte T C 8: 22,817,791 (GRCm39) V259A probably benign Het
Trpa1 T C 1: 14,952,332 (GRCm39) probably null Het
Ttc28 G A 5: 111,371,147 (GRCm39) R532H probably damaging Het
Vwa5a A T 9: 38,646,916 (GRCm39) N529I possibly damaging Het
Zfp574 T C 7: 24,778,969 (GRCm39) probably benign Het
Other mutations in C1qb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02324:C1qb APN 4 136,607,811 (GRCm39) missense possibly damaging 0.93
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
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
Predicted Primers PCR Primer
(F):5'- TGTCTGCAAAAGGGCAATTAG -3'
(R):5'- GGATTAATGACAGATGGAAGCTACC -3'

Sequencing Primer
(F):5'- TCCTGCAATCTCTAAGGCAAGTG -3'
(R):5'- CATGGCAGTAACCCTCCATGTG -3'
Posted On 2015-09-24