Incidental Mutation 'IGL03105:Cfhr1'
ID418896
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: 0.089) question?
Stock #IGL03105
Quality Score
Status
Chromosome1
Chromosomal Location139547053-139560272 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) T to A at 139547827 bp
ZygosityHeterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000023965]
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
Adssl1 A G 12: 112,632,721 I129V probably benign Het
Ankrd35 A G 3: 96,684,057 H553R probably benign Het
Brca2 A G 5: 150,560,485 K2923R probably benign Het
Cadm3 A T 1: 173,345,016 L174M probably damaging Het
Car10 T C 11: 93,100,275 V17A probably benign Het
Cep290 A G 10: 100,551,824 K1956E possibly damaging Het
Crim1 A T 17: 78,315,750 probably benign Het
Dedd G A 1: 171,340,918 R224H probably damaging Het
F7 A T 8: 13,034,001 I229L probably null Het
Fam208a T A 14: 27,442,552 C272S probably damaging Het
Igkv17-121 A T 6: 68,037,300 Q112L probably damaging Het
Kcnk13 G A 12: 100,061,110 R148Q probably damaging Het
Klk13 T C 7: 43,721,480 L51P probably benign Het
Ldb2 A G 5: 44,799,373 S41P possibly damaging Het
Magi2 A G 5: 20,543,618 D767G probably damaging Het
Mical3 T C 6: 121,042,238 T8A probably benign Het
Mkln1 G T 6: 31,459,059 E318* probably null Het
Mx1 C T 16: 97,456,354 V68I possibly damaging Het
Mylk2 T C 2: 152,917,359 V350A possibly damaging Het
Nav2 T A 7: 49,464,879 S870R probably damaging Het
Olfr19 T C 16: 16,673,526 T152A probably benign Het
Olfr66 A G 7: 103,882,132 I37T possibly damaging Het
Olfr668 A T 7: 104,925,764 probably benign Het
Olfr828 T C 9: 18,815,389 R302G probably benign Het
Onecut2 A T 18: 64,341,508 K358* probably null Het
Orai3 A G 7: 127,773,553 probably benign Het
Ppp1r32 A G 19: 10,477,020 probably benign Het
Rad54b A G 4: 11,615,569 N859S probably benign Het
Sec23b C T 2: 144,582,020 R530W probably damaging Het
Slc25a35 T C 11: 68,968,670 F3S probably damaging Het
Slc7a11 A T 3: 50,372,339 I491K possibly damaging Het
Srrt A T 5: 137,299,844 N317K possibly damaging Het
Sspo T C 6: 48,473,658 probably benign Het
Taf2 A C 15: 55,045,799 D683E probably benign Het
Tcerg1l G T 7: 138,248,444 probably benign Het
Tg G T 15: 66,715,106 V1578F probably benign Het
Tmem43 G A 6: 91,480,700 G188D probably damaging Het
Tnfrsf8 T C 4: 145,298,784 Y73C probably damaging Het
Ttc21a A G 9: 119,942,576 Y147C probably benign Het
Ttn T A 2: 76,812,177 D11592V probably damaging Het
Ttn T C 2: 76,778,050 D17843G probably damaging Het
Tubgcp5 T A 7: 55,825,581 I842N probably damaging Het
Unc80 A T 1: 66,472,099 T89S probably damaging Het
Usp28 T C 9: 49,039,055 M928T probably damaging Het
Usp43 A G 11: 67,879,976 S611P possibly damaging Het
Utp20 A G 10: 88,791,096 V1000A probably benign Het
Zfp263 T C 16: 3,748,960 C380R probably damaging Het
Zfyve1 A C 12: 83,558,639 C14G probably damaging Het
Other mutations in Cfhr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00337:Cfhr1 APN 1 139556515 unclassified probably benign
IGL00656:Cfhr1 APN 1 139547755 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
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
R8120:Cfhr1 UTSW 1 139547845 missense unknown
R8376:Cfhr1 UTSW 1 139547811 missense unknown
R8433:Cfhr1 UTSW 1 139557538 missense probably damaging 1.00
Posted On2016-08-02