Incidental Mutation 'R8494:C1qb'
ID 658178
Institutional Source Beutler Lab
Gene Symbol C1qb
Ensembl Gene ENSMUSG00000036905
Gene Name complement component 1, q subcomponent, beta polypeptide
Synonyms
MMRRC Submission 067936-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8494 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 136607440-136613498 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 136608115 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 83 (T83A)
Ref Sequence ENSEMBL: ENSMUSP00000040246 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046384]
AlphaFold P14106
Predicted Effect probably benign
Transcript: ENSMUST00000046384
AA Change: T83A

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000040246
Gene: ENSMUSG00000036905
AA Change: T83A

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T A 1: 71,327,821 (GRCm39) M1420L probably benign Het
Adamts14 T A 10: 61,038,708 (GRCm39) H934L probably benign Het
Adamtsl1 T C 4: 86,240,221 (GRCm39) C661R probably damaging Het
Akap5 A G 12: 76,376,455 (GRCm39) D629G probably benign Het
Anapc16 A T 10: 59,832,340 (GRCm39) probably benign Het
Ankar T C 1: 72,697,953 (GRCm39) I758V probably benign Het
Apc2 G T 10: 80,150,313 (GRCm39) R1760L probably damaging Het
Canx T A 11: 50,202,609 (GRCm39) probably null Het
Cblb T A 16: 52,025,003 (GRCm39) I966K probably damaging Het
Crocc2 A T 1: 93,144,788 (GRCm39) Q1444L probably damaging Het
Dennd4c C T 4: 86,759,312 (GRCm39) P1781S probably damaging Het
Diaph3 T C 14: 87,274,958 (GRCm39) Y166C probably benign Het
Dnah5 A C 15: 28,345,977 (GRCm39) N2439T probably benign Het
Dsg3 T A 18: 20,673,271 (GRCm39) Y981N probably benign Het
Esrp2 C T 8: 106,861,350 (GRCm39) V150M probably damaging Het
Fbxo15 T G 18: 84,982,252 (GRCm39) F235V probably damaging Het
Ffar2 A T 7: 30,519,164 (GRCm39) Y125* probably null Het
Gm1110 T A 9: 26,792,154 (GRCm39) D622V probably benign Het
Gpcpd1 A G 2: 132,386,355 (GRCm39) V341A probably damaging Het
Gpx3 G A 11: 54,793,846 (GRCm39) V19I probably benign Het
Hadha T C 5: 30,347,810 (GRCm39) I160M probably damaging Het
Igkv3-4 G T 6: 70,649,147 (GRCm39) V49F probably damaging Het
Kcng1 A G 2: 168,105,018 (GRCm39) V276A probably damaging Het
Kif7 A T 7: 79,360,145 (GRCm39) V364D probably benign Het
Kirrel3 A G 9: 34,902,341 (GRCm39) I182V probably benign Het
Lfng G A 5: 140,598,981 (GRCm39) E297K probably damaging Het
Mcm9 G A 10: 53,501,856 (GRCm39) T243M possibly damaging Het
Micall1 T C 15: 79,005,080 (GRCm39) L184P probably damaging Het
Mief1 T A 15: 80,133,593 (GRCm39) C217S probably benign Het
Mier2 T C 10: 79,377,546 (GRCm39) D469G probably damaging Het
Mst1r T G 9: 107,791,718 (GRCm39) W799G possibly damaging Het
Mybpc1 C T 10: 88,362,291 (GRCm39) V950I probably benign Het
Neurl4 A G 11: 69,801,871 (GRCm39) D1296G probably benign Het
Or4b12 A T 2: 90,095,880 (GRCm39) M298K probably null Het
Parg T A 14: 31,930,978 (GRCm39) H199Q probably benign Het
Pcnx3 C A 19: 5,725,404 (GRCm39) D1170Y probably damaging Het
Phactr1 T A 13: 43,250,144 (GRCm39) V487E probably damaging Het
Selp T G 1: 163,957,835 (GRCm39) probably null Het
Smpd3 T C 8: 106,981,982 (GRCm39) E626G probably damaging Het
Syn3 A G 10: 86,190,265 (GRCm39) L188P probably damaging Het
Tle1 T C 4: 72,043,241 (GRCm39) I543V possibly damaging Het
Trp53rkb A G 2: 166,637,779 (GRCm39) *245W probably null Het
Ttc28 A G 5: 111,383,506 (GRCm39) R1336G probably damaging Het
Vps13b T A 15: 35,422,594 (GRCm39) W185R probably damaging 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
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
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'- CGTTGCGTGGCTCATAGTTC -3'
(R):5'- AGTTGGACAGCTGAACCCAG -3'

Sequencing Primer
(F):5'- ACCTTTTCGAAGCGAATGACCTG -3'
(R):5'- CAGCTGAACCCAGAGAGGC -3'
Posted On 2021-01-18