Incidental Mutation 'R7367:Cfh'
ID 571856
Institutional Source Beutler Lab
Gene Symbol Cfh
Ensembl Gene ENSMUSG00000026365
Gene Name complement component factor h
Synonyms Sas-1, Mud-1, Sas1
MMRRC Submission 045451-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # R7367 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 140013593-140111149 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 140014259 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 1188 (H1188Q)
Ref Sequence ENSEMBL: ENSMUSP00000107607 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066859] [ENSMUST00000111976] [ENSMUST00000111977] [ENSMUST00000123238] [ENSMUST00000192880]
AlphaFold P06909
Predicted Effect possibly damaging
Transcript: ENSMUST00000066859
AA Change: H1170Q

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000066677
Gene: ENSMUSG00000026365
AA Change: H1170Q

DomainStartEndE-ValueType
CCP 21 80 7.75e-8 SMART
CCP 85 141 2.17e-11 SMART
CCP 146 205 7.5e-15 SMART
CCP 210 262 6.29e-8 SMART
CCP 267 320 2.04e-7 SMART
CCP 325 385 6.35e-4 SMART
CCP 389 442 1.15e-10 SMART
CCP 448 505 3.62e-8 SMART
CCP 509 564 6.45e-5 SMART
CCP 569 622 5.56e-9 SMART
CCP 629 683 3.45e-14 SMART
CCP 690 743 1.82e-13 SMART
CCP 752 802 6.59e-1 SMART
CCP 808 861 1.04e-8 SMART
CCP 867 931 4.66e-11 SMART
CCP 936 989 3.9e-13 SMART
CCP 994 1048 1.4e-14 SMART
CCP 1053 1107 2.09e-13 SMART
CCP 1114 1168 8.04e-15 SMART
CCP 1172 1233 5.57e0 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000111976
AA Change: H1188Q

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000107607
Gene: ENSMUSG00000026365
AA Change: H1188Q

DomainStartEndE-ValueType
CCP 39 98 7.75e-8 SMART
CCP 103 159 2.17e-11 SMART
CCP 164 223 7.5e-15 SMART
CCP 228 280 6.29e-8 SMART
CCP 285 338 2.04e-7 SMART
CCP 343 403 6.35e-4 SMART
CCP 407 460 1.15e-10 SMART
CCP 466 523 3.62e-8 SMART
CCP 527 582 6.45e-5 SMART
CCP 587 640 5.56e-9 SMART
CCP 647 701 3.45e-14 SMART
CCP 708 761 1.82e-13 SMART
CCP 770 820 6.59e-1 SMART
CCP 826 879 1.04e-8 SMART
CCP 885 949 4.66e-11 SMART
CCP 954 1007 3.9e-13 SMART
CCP 1012 1066 1.4e-14 SMART
CCP 1071 1125 2.09e-13 SMART
CCP 1132 1186 8.04e-15 SMART
CCP 1190 1251 5.57e0 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000111977
AA Change: H1131Q

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000107608
Gene: ENSMUSG00000026365
AA Change: H1131Q

DomainStartEndE-ValueType
CCP 21 80 7.75e-8 SMART
CCP 85 141 2.17e-11 SMART
CCP 146 205 7.5e-15 SMART
CCP 210 262 6.29e-8 SMART
CCP 267 320 2.04e-7 SMART
CCP 325 385 6.35e-4 SMART
CCP 389 442 1.15e-10 SMART
CCP 448 505 3.62e-8 SMART
CCP 509 564 6.45e-5 SMART
CCP 572 626 3.45e-14 SMART
CCP 633 686 1.82e-13 SMART
CCP 695 745 6.59e-1 SMART
CCP 751 804 1.04e-8 SMART
CCP 810 874 4.66e-11 SMART
CCP 879 932 3.9e-13 SMART
CCP 937 991 1.4e-14 SMART
CCP 996 1050 2.09e-13 SMART
CCP 1057 1111 8.04e-15 SMART
CCP 1115 1176 5.57e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000123238
SMART Domains Protein: ENSMUSP00000115166
Gene: ENSMUSG00000026365

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
CCP 21 80 7.75e-8 SMART
CCP 85 141 2.17e-11 SMART
CCP 146 205 7.5e-15 SMART
CCP 210 262 6.29e-8 SMART
CCP 267 320 2.04e-7 SMART
CCP 325 385 6.35e-4 SMART
CCP 389 442 1.15e-10 SMART
CCP 448 505 3.62e-8 SMART
CCP 509 564 6.45e-5 SMART
CCP 569 622 5.56e-9 SMART
CCP 629 683 3.45e-14 SMART
CCP 690 743 1.82e-13 SMART
CCP 752 802 6.59e-1 SMART
CCP 808 861 1.04e-8 SMART
CCP 867 931 4.66e-11 SMART
CCP 936 989 3.9e-13 SMART
CCP 994 1048 1.4e-14 SMART
CCP 1053 1107 2.09e-13 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000192880
AA Change: H643Q

PolyPhen 2 Score 0.761 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000141209
Gene: ENSMUSG00000026365
AA Change: H643Q

DomainStartEndE-ValueType
signal peptide 1 36 N/A INTRINSIC
CCP 39 98 3.9e-10 SMART
CCP 103 159 1e-13 SMART
CCP 164 223 3.7e-17 SMART
CCP 228 280 3.1e-10 SMART
CCP 285 338 9.9e-10 SMART
CCP 343 403 3.2e-6 SMART
CCP 407 460 5.6e-13 SMART
CCP 467 521 6.7e-17 SMART
CCP 526 580 1e-15 SMART
CCP 587 641 3.8e-17 SMART
CCP 645 706 2.7e-2 SMART
Predicted Effect
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the Regulator of Complement Activation (RCA) gene cluster and encodes a protein with twenty short consensus repeat (SCR) domains. This protein is secreted into the bloodstream and has an essential role in the regulation of complement activation, restricting this innate defense mechanism to microbial infections. Mutations in this gene have been associated with hemolytic-uremic syndrome (HUS) and chronic hypocomplementemic nephropathy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Oct 2011]
PHENOTYPE: Homozygous mutation of this gene results in markedly reduced serum C3, abnormal renal histology, spontaneous membranoproliferative glomerulonephritis (MPGN), hematuria, proteinuria, and increased mortality at 8 months of age. [provided by MGI curators]
Allele List at MGI

All alleles(2) : Targeted, knock-out(1) Targeted, other(1)

Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh1 A G 3: 137,996,312 (GRCm39) T374A probably benign Het
Agps T A 2: 75,698,657 (GRCm39) H348Q possibly damaging Het
Ankrd34b C A 13: 92,574,795 (GRCm39) T9K probably benign Het
Atp10b A G 11: 43,138,328 (GRCm39) Q1203R probably damaging Het
B4galnt4 A G 7: 140,644,388 (GRCm39) N123D probably damaging Het
Ccn6 A G 10: 39,034,261 (GRCm39) C114R probably damaging Het
Cep250 A G 2: 155,811,227 (GRCm39) T358A probably benign Het
Cisd1 A G 10: 71,172,190 (GRCm39) Y31H probably damaging Het
Cnga1 G A 5: 72,762,701 (GRCm39) S271F possibly damaging Het
Cntnap5a A G 1: 116,370,025 (GRCm39) T881A probably benign Het
Cracd T A 5: 77,004,449 (GRCm39) L270Q unknown Het
Cyp2s1 A T 7: 25,505,398 (GRCm39) D355E possibly damaging Het
Dnaaf10 A G 11: 17,182,712 (GRCm39) Y291C probably damaging Het
Dnah11 T A 12: 117,951,177 (GRCm39) R3044W possibly damaging Het
Dnah17 T C 11: 118,006,022 (GRCm39) D730G probably benign Het
Dsel C T 1: 111,789,303 (GRCm39) G411S probably damaging Het
Epha7 C T 4: 28,871,937 (GRCm39) S422L probably benign Het
Flacc1 A T 1: 58,706,023 (GRCm39) I282N probably benign Het
Fsd2 A G 7: 81,184,928 (GRCm39) I656T probably damaging Het
Gm40460 GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG 7: 141,794,171 (GRCm39) probably benign Het
Gm45871 A T 18: 90,609,224 (GRCm39) H154L probably benign Het
Golgb1 T A 16: 36,718,908 (GRCm39) N312K probably benign Het
H2ac4 A G 13: 23,935,333 (GRCm39) D73G possibly damaging Het
Hsd17b4 T A 18: 50,288,252 (GRCm39) H227Q probably damaging Het
Hsd17b6 A T 10: 127,829,492 (GRCm39) S237T probably benign Het
Htra4 A T 8: 25,523,713 (GRCm39) V284E probably damaging Het
Kcnv1 C T 15: 44,972,638 (GRCm39) C415Y probably damaging Het
Kif11 T A 19: 37,408,789 (GRCm39) L1037H probably benign Het
Lama5 T C 2: 179,834,751 (GRCm39) T1347A probably benign Het
Lrrc32 G T 7: 98,148,086 (GRCm39) E289* probably null Het
Lrrc66 T C 5: 73,765,724 (GRCm39) T440A probably benign Het
Neurl4 T C 11: 69,799,408 (GRCm39) L928P probably damaging Het
Nos2 G A 11: 78,840,916 (GRCm39) C788Y possibly damaging Het
Or2c1 A G 16: 3,657,166 (GRCm39) T110A probably damaging Het
Or4x11 A G 2: 89,868,156 (GRCm39) S298G probably benign Het
Or5m5 T C 2: 85,814,687 (GRCm39) W168R possibly damaging Het
Pafah1b3 A G 7: 24,995,491 (GRCm39) C156R probably benign Het
Pak1ip1 T G 13: 41,162,371 (GRCm39) N151K probably damaging Het
Pax7 G A 4: 139,507,060 (GRCm39) P326S probably benign Het
Pex11b G A 3: 96,543,994 (GRCm39) A21T probably damaging Het
Pkn2 A G 3: 142,516,488 (GRCm39) V546A probably benign Het
Ppat T A 5: 77,067,711 (GRCm39) R260* probably null Het
Ppp1r13l C G 7: 19,104,081 (GRCm39) S187R probably benign Het
Pwp2 C T 10: 78,018,314 (GRCm39) G126R probably damaging Het
R3hdm1 A G 1: 128,081,129 (GRCm39) D55G possibly damaging Het
Rev1 A T 1: 38,113,488 (GRCm39) Y526* probably null Het
Rp1 A G 1: 4,418,221 (GRCm39) W964R probably benign Het
Sarnp A G 10: 128,669,247 (GRCm39) I35V probably damaging Het
Sec23a T C 12: 59,013,785 (GRCm39) N730S probably benign Het
Sh3d19 A G 3: 86,011,535 (GRCm39) K374E probably benign Het
Sh3tc2 A G 18: 62,122,577 (GRCm39) D446G probably benign Het
Sugct T A 13: 17,819,399 (GRCm39) I149F probably damaging Het
Tle2 A G 10: 81,416,152 (GRCm39) N142S probably damaging Het
Tpsg1 G T 17: 25,592,184 (GRCm39) G86V probably damaging Het
Trpm1 T A 7: 63,918,549 (GRCm39) Y1514N probably benign Het
Ubr4 C T 4: 139,180,002 (GRCm39) S259L unknown Het
Utp20 A T 10: 88,631,305 (GRCm39) L892Q probably benign Het
Zfp956 C T 6: 47,940,853 (GRCm39) T404M probably damaging Het
Other mutations in Cfh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00969:Cfh APN 1 140,016,420 (GRCm39) missense probably damaging 1.00
IGL01124:Cfh APN 1 140,110,999 (GRCm39) missense probably benign 0.01
IGL01389:Cfh APN 1 140,082,377 (GRCm39) missense probably benign 0.44
IGL01455:Cfh APN 1 140,033,277 (GRCm39) missense possibly damaging 0.51
IGL01877:Cfh APN 1 140,028,567 (GRCm39) missense probably damaging 1.00
IGL02836:Cfh APN 1 140,030,137 (GRCm39) missense probably damaging 1.00
IGL02937:Cfh APN 1 140,033,180 (GRCm39) missense probably benign 0.19
IGL03039:Cfh APN 1 140,063,999 (GRCm39) missense possibly damaging 0.86
IGL03069:Cfh APN 1 140,026,793 (GRCm39) intron probably benign
IGL03192:Cfh APN 1 140,026,759 (GRCm39) missense possibly damaging 0.71
IGL03201:Cfh APN 1 140,030,557 (GRCm39) missense probably damaging 1.00
3-1:Cfh UTSW 1 140,090,863 (GRCm39) missense probably damaging 1.00
PIT4449001:Cfh UTSW 1 140,040,303 (GRCm39) missense probably damaging 1.00
R0257:Cfh UTSW 1 140,071,773 (GRCm39) missense probably benign 0.01
R0294:Cfh UTSW 1 140,110,999 (GRCm39) missense probably benign 0.01
R0571:Cfh UTSW 1 140,030,071 (GRCm39) splice site probably null
R0576:Cfh UTSW 1 140,064,553 (GRCm39) missense probably damaging 0.99
R0586:Cfh UTSW 1 140,110,920 (GRCm39) missense probably damaging 0.98
R0605:Cfh UTSW 1 140,030,096 (GRCm39) missense probably damaging 1.00
R0617:Cfh UTSW 1 140,028,621 (GRCm39) missense probably benign 0.01
R0725:Cfh UTSW 1 140,085,081 (GRCm39) splice site probably benign
R0853:Cfh UTSW 1 140,033,228 (GRCm39) missense probably damaging 1.00
R1430:Cfh UTSW 1 140,030,436 (GRCm39) splice site probably benign
R1500:Cfh UTSW 1 140,028,614 (GRCm39) missense probably damaging 1.00
R1533:Cfh UTSW 1 140,028,716 (GRCm39) missense possibly damaging 0.86
R1667:Cfh UTSW 1 140,033,261 (GRCm39) missense probably benign 0.01
R1695:Cfh UTSW 1 140,030,575 (GRCm39) missense probably damaging 0.98
R1728:Cfh UTSW 1 140,075,435 (GRCm39) missense possibly damaging 0.55
R1729:Cfh UTSW 1 140,064,526 (GRCm39) missense probably benign 0.02
R1729:Cfh UTSW 1 140,075,435 (GRCm39) missense possibly damaging 0.55
R1730:Cfh UTSW 1 140,075,435 (GRCm39) missense possibly damaging 0.55
R1739:Cfh UTSW 1 140,075,435 (GRCm39) missense possibly damaging 0.55
R1739:Cfh UTSW 1 140,064,526 (GRCm39) missense probably benign 0.02
R1756:Cfh UTSW 1 140,028,615 (GRCm39) missense probably damaging 1.00
R1762:Cfh UTSW 1 140,075,435 (GRCm39) missense possibly damaging 0.55
R1762:Cfh UTSW 1 140,064,526 (GRCm39) missense probably benign 0.02
R1783:Cfh UTSW 1 140,075,435 (GRCm39) missense possibly damaging 0.55
R1784:Cfh UTSW 1 140,075,435 (GRCm39) missense possibly damaging 0.55
R1785:Cfh UTSW 1 140,075,435 (GRCm39) missense possibly damaging 0.55
R1785:Cfh UTSW 1 140,064,526 (GRCm39) missense probably benign 0.02
R1912:Cfh UTSW 1 140,063,879 (GRCm39) splice site probably null
R2273:Cfh UTSW 1 140,030,563 (GRCm39) missense probably damaging 1.00
R2288:Cfh UTSW 1 140,026,639 (GRCm39) missense possibly damaging 0.70
R3725:Cfh UTSW 1 140,014,234 (GRCm39) missense probably damaging 0.99
R3731:Cfh UTSW 1 140,047,708 (GRCm39) missense possibly damaging 0.71
R4060:Cfh UTSW 1 140,047,664 (GRCm39) missense possibly damaging 0.91
R4192:Cfh UTSW 1 140,030,454 (GRCm39) missense possibly damaging 0.50
R4226:Cfh UTSW 1 140,036,664 (GRCm39) missense probably damaging 1.00
R4425:Cfh UTSW 1 140,028,613 (GRCm39) nonsense probably null
R4431:Cfh UTSW 1 140,064,004 (GRCm39) missense probably damaging 1.00
R4712:Cfh UTSW 1 140,036,274 (GRCm39) missense probably damaging 1.00
R4755:Cfh UTSW 1 140,016,546 (GRCm39) missense probably damaging 1.00
R4792:Cfh UTSW 1 140,028,561 (GRCm39) nonsense probably null
R4831:Cfh UTSW 1 140,014,125 (GRCm39) missense probably benign
R5052:Cfh UTSW 1 140,071,782 (GRCm39) missense probably damaging 0.96
R5181:Cfh UTSW 1 140,075,384 (GRCm39) splice site probably benign
R5205:Cfh UTSW 1 140,071,708 (GRCm39) missense probably damaging 1.00
R5285:Cfh UTSW 1 140,028,636 (GRCm39) missense probably benign 0.21
R5366:Cfh UTSW 1 140,063,973 (GRCm39) missense probably damaging 1.00
R5776:Cfh UTSW 1 140,071,761 (GRCm39) missense possibly damaging 0.83
R5914:Cfh UTSW 1 140,063,967 (GRCm39) missense probably benign 0.39
R5948:Cfh UTSW 1 140,036,546 (GRCm39) missense probably damaging 0.96
R5979:Cfh UTSW 1 140,046,409 (GRCm39) missense possibly damaging 0.66
R6034:Cfh UTSW 1 140,090,869 (GRCm39) missense probably damaging 0.98
R6034:Cfh UTSW 1 140,090,869 (GRCm39) missense probably damaging 0.98
R6059:Cfh UTSW 1 140,046,428 (GRCm39) missense possibly damaging 0.92
R6198:Cfh UTSW 1 140,033,178 (GRCm39) missense probably damaging 1.00
R6306:Cfh UTSW 1 140,030,155 (GRCm39) missense probably damaging 1.00
R6523:Cfh UTSW 1 140,029,445 (GRCm39) missense possibly damaging 0.82
R6610:Cfh UTSW 1 140,029,486 (GRCm39) nonsense probably null
R6652:Cfh UTSW 1 140,071,806 (GRCm39) missense probably benign 0.39
R6852:Cfh UTSW 1 140,075,487 (GRCm39) missense probably damaging 1.00
R6861:Cfh UTSW 1 140,028,621 (GRCm39) missense probably benign 0.07
R6862:Cfh UTSW 1 140,030,100 (GRCm39) missense probably damaging 1.00
R7065:Cfh UTSW 1 140,014,140 (GRCm39) missense probably damaging 0.99
R7191:Cfh UTSW 1 140,040,305 (GRCm39) missense probably benign 0.04
R7197:Cfh UTSW 1 140,016,505 (GRCm39) nonsense probably null
R7355:Cfh UTSW 1 140,064,553 (GRCm39) missense probably damaging 1.00
R7419:Cfh UTSW 1 140,033,204 (GRCm39) missense probably damaging 0.99
R7579:Cfh UTSW 1 140,036,328 (GRCm39) missense possibly damaging 0.53
R7586:Cfh UTSW 1 140,075,459 (GRCm39) missense probably damaging 0.99
R7985:Cfh UTSW 1 140,036,564 (GRCm39) missense probably damaging 1.00
R8119:Cfh UTSW 1 140,047,753 (GRCm39) missense possibly damaging 0.95
R8277:Cfh UTSW 1 140,029,347 (GRCm39) missense probably damaging 1.00
R8742:Cfh UTSW 1 140,029,390 (GRCm39) missense probably damaging 0.98
R8742:Cfh UTSW 1 140,064,469 (GRCm39) missense probably damaging 0.97
R8743:Cfh UTSW 1 140,046,323 (GRCm39) critical splice donor site probably null
R8874:Cfh UTSW 1 140,014,159 (GRCm39) missense probably damaging 1.00
R8909:Cfh UTSW 1 140,014,086 (GRCm39) missense possibly damaging 0.47
R8949:Cfh UTSW 1 140,026,705 (GRCm39) missense probably damaging 0.98
R9126:Cfh UTSW 1 140,014,111 (GRCm39) missense probably damaging 0.98
R9309:Cfh UTSW 1 140,082,249 (GRCm39) missense probably damaging 0.99
R9441:Cfh UTSW 1 140,030,149 (GRCm39) missense probably benign 0.08
R9502:Cfh UTSW 1 140,040,320 (GRCm39) missense possibly damaging 0.85
R9544:Cfh UTSW 1 140,036,266 (GRCm39) missense probably benign 0.14
R9559:Cfh UTSW 1 140,030,275 (GRCm39) missense probably benign 0.32
R9616:Cfh UTSW 1 140,030,254 (GRCm39) missense probably damaging 0.99
R9617:Cfh UTSW 1 140,090,718 (GRCm39) missense possibly damaging 0.53
R9733:Cfh UTSW 1 140,016,533 (GRCm39) missense probably damaging 1.00
R9748:Cfh UTSW 1 140,090,687 (GRCm39) critical splice donor site probably null
R9788:Cfh UTSW 1 140,036,499 (GRCm39) missense probably benign 0.01
T0975:Cfh UTSW 1 140,082,336 (GRCm39) missense probably benign 0.05
Z1088:Cfh UTSW 1 140,075,456 (GRCm39) missense possibly damaging 0.77
Z1088:Cfh UTSW 1 140,036,642 (GRCm39) missense probably benign 0.04
Z1177:Cfh UTSW 1 140,071,797 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGTGCCATTAATGCACTTTG -3'
(R):5'- ATTGACCAGCTACAGACAGTATC -3'

Sequencing Primer
(F):5'- ATGCACTTTGTACGAAATGGCG -3'
(R):5'- GTCTATCAAGATGAGTTAACTGCAG -3'
Posted On 2019-09-13