Incidental Mutation 'IGL01101:Cfhr1'
ID 50266
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cfhr1
Ensembl Gene ENSMUSG00000057037
Gene Name complement factor H-related 1
Synonyms Cfhl1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # IGL01101
Quality Score
Status
Chromosome 1
Chromosomal Location 139474802-139487960 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 139481322 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 186 (Y186F)
Ref Sequence ENSEMBL: ENSMUSP00000023965 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023965]
AlphaFold Q61406
Predicted Effect probably benign
Transcript: ENSMUST00000023965
AA Change: Y186F

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000023965
Gene: ENSMUSG00000057037
AA Change: Y186F

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 unknown
Transcript: ENSMUST00000161224
AA Change: Y5F
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 T A 15: 94,241,923 (GRCm39) D695V probably damaging Het
Ahnak T C 19: 8,990,251 (GRCm39) probably benign Het
Akap4 T A X: 6,942,423 (GRCm39) M242K probably benign Het
Cd207 T C 6: 83,652,839 (GRCm39) D97G probably benign Het
Cdc20 A G 4: 118,292,749 (GRCm39) V333A possibly damaging Het
Cdhr2 A G 13: 54,865,948 (GRCm39) probably benign Het
Cnbd1 T A 4: 18,907,098 (GRCm39) I159F probably benign Het
Cyp2j11 A C 4: 96,227,332 (GRCm39) M228R probably benign Het
Dach1 C A 14: 98,077,640 (GRCm39) S581I possibly damaging Het
Dbnl A G 11: 5,743,722 (GRCm39) D71G possibly damaging Het
F8 T A X: 74,330,993 (GRCm39) T966S possibly damaging Het
Filip1 T A 9: 79,805,528 (GRCm39) L75F probably benign Het
Foxi2 A G 7: 135,013,736 (GRCm39) Y322C probably benign Het
Ftsj3 A G 11: 106,146,458 (GRCm39) V7A probably benign Het
Gm8362 A T 14: 18,145,196 (GRCm39) S204T probably benign Het
Ibtk C A 9: 85,614,675 (GRCm39) probably benign Het
Marf1 C T 16: 13,964,600 (GRCm39) V267I possibly damaging Het
Mmp27 T A 9: 7,573,416 (GRCm39) D169E probably damaging Het
Or10ag53 C A 2: 87,082,806 (GRCm39) T175K probably damaging Het
Or4a74 C T 2: 89,440,191 (GRCm39) C85Y probably benign Het
Or4k1 A T 14: 50,377,511 (GRCm39) M195K probably benign Het
P4ha2 G T 11: 54,010,131 (GRCm39) C296F probably damaging Het
Scart2 A T 7: 139,876,017 (GRCm39) Q543L probably benign Het
Slc38a5 T C X: 8,137,750 (GRCm39) probably benign Het
Sorbs2 G T 8: 46,198,460 (GRCm39) R36L possibly damaging Het
Tmem207 A C 16: 26,336,627 (GRCm39) Y42* probably null Het
Vmn2r115 G A 17: 23,564,971 (GRCm39) R286K probably benign Het
Other mutations in Cfhr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00337:Cfhr1 APN 1 139,484,253 (GRCm39) unclassified probably benign
IGL00656:Cfhr1 APN 1 139,475,493 (GRCm39) unclassified probably benign
IGL01099:Cfhr1 APN 1 139,475,497 (GRCm39) unclassified probably benign
IGL01617:Cfhr1 APN 1 139,481,417 (GRCm39) nonsense probably null
IGL01732:Cfhr1 APN 1 139,478,606 (GRCm39) missense probably benign 0.02
IGL01935:Cfhr1 APN 1 139,478,740 (GRCm39) missense probably benign 0.26
IGL02368:Cfhr1 APN 1 139,475,551 (GRCm39) unclassified probably benign
IGL02456:Cfhr1 APN 1 139,484,131 (GRCm39) missense possibly damaging 0.88
IGL03105:Cfhr1 APN 1 139,475,565 (GRCm39) unclassified probably benign
R0681:Cfhr1 UTSW 1 139,485,249 (GRCm39) missense probably damaging 0.99
R1466:Cfhr1 UTSW 1 139,485,312 (GRCm39) missense probably benign 0.17
R1466:Cfhr1 UTSW 1 139,485,312 (GRCm39) missense probably benign 0.17
R1829:Cfhr1 UTSW 1 139,481,338 (GRCm39) missense probably damaging 1.00
R2082:Cfhr1 UTSW 1 139,478,624 (GRCm39) missense possibly damaging 0.72
R2118:Cfhr1 UTSW 1 139,478,642 (GRCm39) missense probably benign 0.01
R3747:Cfhr1 UTSW 1 139,485,372 (GRCm39) critical splice acceptor site probably null
R3748:Cfhr1 UTSW 1 139,485,372 (GRCm39) critical splice acceptor site probably null
R3749:Cfhr1 UTSW 1 139,485,372 (GRCm39) critical splice acceptor site probably null
R4208:Cfhr1 UTSW 1 139,475,616 (GRCm39) unclassified probably benign
R4566:Cfhr1 UTSW 1 139,481,386 (GRCm39) missense possibly damaging 0.82
R4681:Cfhr1 UTSW 1 139,478,667 (GRCm39) nonsense probably null
R4839:Cfhr1 UTSW 1 139,487,871 (GRCm39) missense probably damaging 1.00
R5208:Cfhr1 UTSW 1 139,484,068 (GRCm39) critical splice donor site probably null
R5572:Cfhr1 UTSW 1 139,484,165 (GRCm39) missense possibly damaging 0.78
R6043:Cfhr1 UTSW 1 139,478,606 (GRCm39) missense probably benign 0.01
R6176:Cfhr1 UTSW 1 139,478,654 (GRCm39) missense probably damaging 1.00
R7643:Cfhr1 UTSW 1 139,481,323 (GRCm39) missense possibly damaging 0.47
R7689:Cfhr1 UTSW 1 139,475,478 (GRCm39) missense unknown
R7852:Cfhr1 UTSW 1 139,484,165 (GRCm39) missense probably damaging 0.98
R8120:Cfhr1 UTSW 1 139,475,583 (GRCm39) missense unknown
R8376:Cfhr1 UTSW 1 139,475,549 (GRCm39) missense unknown
R8433:Cfhr1 UTSW 1 139,485,276 (GRCm39) missense probably damaging 1.00
R9339:Cfhr1 UTSW 1 139,485,293 (GRCm39) missense probably benign 0.00
R9409:Cfhr1 UTSW 1 139,478,704 (GRCm39) missense probably benign 0.02
R9755:Cfhr1 UTSW 1 139,487,889 (GRCm39) missense probably benign 0.26
Posted On 2013-06-21