|Institutional Source||Beutler Lab|
|Gene Name||complement factor H-related 1|
|Is this an essential gene?||Probably non essential (E-score: 0.064)|
|Stock #||R3749 (G1)|
|Chromosomal Location||139547053-139560272 bp(-) (GRCm38)|
|Type of Mutation||critical splice acceptor site|
|DNA Base Change (assembly)||C to A at 139557634 bp|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000023965 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000023965]|
|Predicted Effect||probably null
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.8527|
|Coding Region Coverage||
|Validation Efficiency||98% (50/51)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a secreted protein belonging to the complement factor H protein family. It binds to Pseudomonas aeruginosa elongation factor Tuf together with plasminogen, which is proteolytically activated. It is proposed that Tuf acts as a virulence factor by acquiring host proteins to the pathogen surface, controlling complement, and facilitating tissue invasion. Mutations in this gene are associated with an increased risk of atypical hemolytic-uremic syndrome. [provided by RefSeq, Oct 2009]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cfhr1||
(F):5'- ACTGAGACACTTCGGAGTTGG -3'
(R):5'- GCCTGACAAGGGAGATAAACATTC -3'
(F):5'- ACACTTCGGAGTTGGTGACCATC -3'
(R):5'- TTCATAGCCAGGGACATCACTG -3'