|Institutional Source||Beutler Lab|
|Gene Name||complement factor H-related 1|
|Is this an essential gene?||Probably non essential (E-score: 0.072)|
|Stock #||R0681 (G1)|
|Chromosomal Location||139547053-139560272 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 139557511 bp|
|Amino Acid Change||Serine to Threonine at position 66 (S66T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000023965 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000023965]|
|Predicted Effect||probably damaging
AA Change: S66T
PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
AA Change: S66T
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.1740|
|Coding Region Coverage||
|Validation Efficiency||100% (68/68)|
|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'- GCCTAACTCTGTGATTTTCCAGACACC -3'
(R):5'- TGGCTTTGCCTATTGGAACTCCAC -3'
(F):5'- GTGATTTTCCAGACACCAGTTTC -3'
(R):5'- TTCATAGCCAGGGACATCACTG -3'