|Institutional Source||Beutler Lab|
|Gene Name||complement component 7|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R2047 (G1)|
|Chromosomal Location||4988762-5063740 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 5045661 bp|
|Amino Acid Change||Leucine to Proline at position 183 (L183P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000106317 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000110689]|
|Predicted Effect||probably damaging
AA Change: L183P
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: L183P
|Meta Mutation Damage Score||0.5270|
|Coding Region Coverage||
|Validation Efficiency||100% (57/57)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a serum glycoprotein that forms a membrane attack complex together with complement components C5b, C6, C8, and C9 as part of the terminal complement pathway of the innate immune system. The protein encoded by this gene contains a cholesterol-dependent cytolysin/membrane attack complex/perforin-like (CDC/MACPF) domain and belongs to a large family of structurally related molecules that form pores involved in host immunity and bacterial pathogenesis. This protein initiates membrane attack complex formation by binding the C5b-C6 subcomplex and inserts into the phospholipid bilayer, serving as a membrane anchor. Mutations in this gene are associated with a rare disorder called C7 deficiency. [provided by RefSeq, Nov 2016]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in C7||
(F):5'- ACTCCAACTCATCTGTGTAAGC -3'
(R):5'- CCCCAAGCAGGTACTAGTTCTG -3'
(F):5'- CCAACTCATCTGTGTAAGCTTCATAG -3'
(R):5'- CAAGCAGGTACTAGTTCTGTTTTTC -3'