Incidental Mutation 'IGL00656:Cfhr1'
ID13358
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cfhr1
Ensembl Gene ENSMUSG00000057037
Gene Namecomplement factor H-related 1
SynonymsCfhl1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.070) question?
Stock #IGL00656
Quality Score
Status
Chromosome1
Chromosomal Location139547053-139560272 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) T to C at 139547755 bp
ZygosityHeterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000023965]
Predicted Effect unknown
Transcript: ENSMUST00000023965
AA Change: N326S
SMART Domains Protein: ENSMUSP00000023965
Gene: ENSMUSG00000057037
AA Change: N326S

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
CCP 28 88 1.12e-4 SMART
CCP 92 145 3.48e-10 SMART
CCP 154 208 4.95e-15 SMART
CCP 215 269 3.5e-15 SMART
CCP 273 334 1.04e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000161224
Coding Region Coverage
Validation Efficiency
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
Total: 16 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931408C20Rik A G 1: 26,682,901 V1066A possibly damaging Het
Asns A T 6: 7,680,215 probably benign Het
Atxn2 A G 5: 121,795,055 I814V probably benign Het
Cyp3a57 A G 5: 145,372,549 I232M possibly damaging Het
Ddx27 T A 2: 167,019,966 D129E probably benign Het
Dld A G 12: 31,349,595 probably null Het
Ibtk A G 9: 85,717,545 probably null Het
Lrp3 T C 7: 35,206,028 probably benign Het
Mmp27 A C 9: 7,581,382 T549P possibly damaging Het
Oas1d A G 5: 120,919,207 Y292C possibly damaging Het
Pdcd11 A G 19: 47,098,170 D205G probably damaging Het
Rbm39 A G 2: 156,162,871 V181A probably damaging Het
Strbp T C 2: 37,603,138 probably benign Het
Tor1aip1 T C 1: 156,031,467 N187S probably benign Het
Ubqln3 T C 7: 104,141,777 T369A probably benign Het
Unc13a G A 8: 71,643,147 A1242V probably null Het
Other mutations in Cfhr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00337:Cfhr1 APN 1 139556515 unclassified probably benign
IGL01099:Cfhr1 APN 1 139547759 unclassified probably benign
IGL01101:Cfhr1 APN 1 139553584 missense probably benign 0.11
IGL01617:Cfhr1 APN 1 139553679 nonsense probably null
IGL01732:Cfhr1 APN 1 139550868 missense probably benign 0.02
IGL01935:Cfhr1 APN 1 139551002 missense probably benign 0.26
IGL02368:Cfhr1 APN 1 139547813 unclassified probably benign
IGL02456:Cfhr1 APN 1 139556393 missense possibly damaging 0.88
IGL03105:Cfhr1 APN 1 139547827 unclassified probably benign
R0681:Cfhr1 UTSW 1 139557511 missense probably damaging 0.99
R1466:Cfhr1 UTSW 1 139557574 missense probably benign 0.17
R1466:Cfhr1 UTSW 1 139557574 missense probably benign 0.17
R1829:Cfhr1 UTSW 1 139553600 missense probably damaging 1.00
R2082:Cfhr1 UTSW 1 139550886 missense possibly damaging 0.72
R2118:Cfhr1 UTSW 1 139550904 missense probably benign 0.01
R3747:Cfhr1 UTSW 1 139557634 critical splice acceptor site probably null
R3748:Cfhr1 UTSW 1 139557634 critical splice acceptor site probably null
R3749:Cfhr1 UTSW 1 139557634 critical splice acceptor site probably null
R4208:Cfhr1 UTSW 1 139547878 unclassified probably benign
R4566:Cfhr1 UTSW 1 139553648 missense possibly damaging 0.82
R4681:Cfhr1 UTSW 1 139550929 nonsense probably null
R4839:Cfhr1 UTSW 1 139560133 missense probably damaging 1.00
R5208:Cfhr1 UTSW 1 139556330 critical splice donor site probably null
R5572:Cfhr1 UTSW 1 139556427 missense possibly damaging 0.78
R6043:Cfhr1 UTSW 1 139550868 missense probably benign 0.01
R6176:Cfhr1 UTSW 1 139550916 missense probably damaging 1.00
R7643:Cfhr1 UTSW 1 139553585 missense possibly damaging 0.47
R7689:Cfhr1 UTSW 1 139547740 missense unknown
R7852:Cfhr1 UTSW 1 139556427 missense probably damaging 0.98
R7935:Cfhr1 UTSW 1 139556427 missense probably damaging 0.98
Posted On2012-12-06