Incidental Mutation 'IGL03105:Cfhr1'
ID 418896
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 # IGL03105
Quality Score
Status
Chromosome 1
Chromosomal Location 139474802-139487960 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to A at 139475565 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000023965]
AlphaFold Q61406
Predicted Effect unknown
Transcript: ENSMUST00000023965
AA Change: D302V
SMART Domains Protein: ENSMUSP00000023965
Gene: ENSMUSG00000057037
AA Change: D302V

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adss1 A G 12: 112,599,155 (GRCm39) I129V probably benign Het
Ankrd35 A G 3: 96,591,373 (GRCm39) H553R probably benign Het
Brca2 A G 5: 150,483,950 (GRCm39) K2923R probably benign Het
Cadm3 A T 1: 173,172,583 (GRCm39) L174M probably damaging Het
Car10 T C 11: 92,991,101 (GRCm39) V17A probably benign Het
Cep290 A G 10: 100,387,686 (GRCm39) K1956E possibly damaging Het
Crim1 A T 17: 78,623,179 (GRCm39) probably benign Het
Dedd G A 1: 171,168,486 (GRCm39) R224H probably damaging Het
F7 A T 8: 13,084,001 (GRCm39) I229L probably null Het
Igkv17-121 A T 6: 68,014,284 (GRCm39) Q112L probably damaging Het
Kcnk13 G A 12: 100,027,369 (GRCm39) R148Q probably damaging Het
Klk13 T C 7: 43,370,904 (GRCm39) L51P probably benign Het
Ldb2 A G 5: 44,956,715 (GRCm39) S41P possibly damaging Het
Magi2 A G 5: 20,748,616 (GRCm39) D767G probably damaging Het
Mical3 T C 6: 121,019,199 (GRCm39) T8A probably benign Het
Mkln1 G T 6: 31,435,994 (GRCm39) E318* probably null Het
Mx1 C T 16: 97,257,554 (GRCm39) V68I possibly damaging Het
Mylk2 T C 2: 152,759,279 (GRCm39) V350A possibly damaging Het
Nav2 T A 7: 49,114,627 (GRCm39) S870R probably damaging Het
Onecut2 A T 18: 64,474,579 (GRCm39) K358* probably null Het
Or51b4 A G 7: 103,531,339 (GRCm39) I37T possibly damaging Het
Or52n2c A T 7: 104,574,971 (GRCm39) probably benign Het
Or7a40 T C 16: 16,491,390 (GRCm39) T152A probably benign Het
Or7g16 T C 9: 18,726,685 (GRCm39) R302G probably benign Het
Orai3 A G 7: 127,372,725 (GRCm39) probably benign Het
Rad54b A G 4: 11,615,569 (GRCm39) N859S probably benign Het
Saxo4 A G 19: 10,454,384 (GRCm39) probably benign Het
Sec23b C T 2: 144,423,940 (GRCm39) R530W probably damaging Het
Slc25a35 T C 11: 68,859,496 (GRCm39) F3S probably damaging Het
Slc7a11 A T 3: 50,326,788 (GRCm39) I491K possibly damaging Het
Srrt A T 5: 137,298,106 (GRCm39) N317K possibly damaging Het
Sspo T C 6: 48,450,592 (GRCm39) probably benign Het
Taf2 A C 15: 54,909,195 (GRCm39) D683E probably benign Het
Tasor T A 14: 27,164,509 (GRCm39) C272S probably damaging Het
Tcerg1l G T 7: 137,850,173 (GRCm39) probably benign Het
Tg G T 15: 66,586,955 (GRCm39) V1578F probably benign Het
Tmem43 G A 6: 91,457,682 (GRCm39) G188D probably damaging Het
Tnfrsf8 T C 4: 145,025,354 (GRCm39) Y73C probably damaging Het
Ttc21a A G 9: 119,771,642 (GRCm39) Y147C probably benign Het
Ttn T C 2: 76,608,394 (GRCm39) D17843G probably damaging Het
Ttn T A 2: 76,642,521 (GRCm39) D11592V probably damaging Het
Tubgcp5 T A 7: 55,475,329 (GRCm39) I842N probably damaging Het
Unc80 A T 1: 66,511,258 (GRCm39) T89S probably damaging Het
Usp28 T C 9: 48,950,355 (GRCm39) M928T probably damaging Het
Usp43 A G 11: 67,770,802 (GRCm39) S611P possibly damaging Het
Utp20 A G 10: 88,626,958 (GRCm39) V1000A probably benign Het
Zfp263 T C 16: 3,566,824 (GRCm39) C380R probably damaging Het
Zfyve1 A C 12: 83,605,413 (GRCm39) C14G probably damaging 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
IGL01101:Cfhr1 APN 1 139,481,322 (GRCm39) missense probably benign 0.11
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
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 2016-08-02