Incidental Mutation 'R9441:Cfh'
ID 713620
Institutional Source Beutler Lab
Gene Symbol Cfh
Ensembl Gene ENSMUSG00000026365
Gene Name complement component factor h
Synonyms Sas-1, Mud-1, Sas1
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # R9441 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 140013593-140111149 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 140030149 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 926 (D926G)
Ref Sequence ENSEMBL: ENSMUSP00000107607 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066859] [ENSMUST00000111976] [ENSMUST00000111977] [ENSMUST00000123238] [ENSMUST00000192880]
AlphaFold P06909
Predicted Effect probably damaging
Transcript: ENSMUST00000066859
AA Change: D908G

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000066677
Gene: ENSMUSG00000026365
AA Change: D908G

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 benign
Transcript: ENSMUST00000111976
AA Change: D926G

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000107607
Gene: ENSMUSG00000026365
AA Change: D926G

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 probably benign
Transcript: ENSMUST00000111977
AA Change: D869G

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000107608
Gene: ENSMUSG00000026365
AA Change: D869G

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
AA Change: D908G

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000115166
Gene: ENSMUSG00000026365
AA Change: D908G

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 probably benign
Transcript: ENSMUST00000192880
SMART Domains Protein: ENSMUSP00000141209
Gene: ENSMUSG00000026365

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 probably benign
Transcript: ENSMUST00000192919
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik C A 9: 55,917,776 (GRCm39) G20V unknown Het
Adam22 T C 5: 8,161,974 (GRCm39) T733A possibly damaging Het
Adam28 T A 14: 68,874,943 (GRCm39) N245Y probably damaging Het
Aldh9a1 C G 1: 167,177,919 (GRCm39) R39G probably benign Het
Armc3 A C 2: 19,253,426 (GRCm39) E189A possibly damaging Het
Atg9a C T 1: 75,163,086 (GRCm39) C338Y possibly damaging Het
Card6 TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG 15: 5,128,173 (GRCm39) probably benign Het
Cars1 G A 7: 143,123,185 (GRCm39) T560I probably benign Het
Casp8ap2 A G 4: 32,645,873 (GRCm39) K1649E probably benign Het
Ccdc88b T C 19: 6,833,213 (GRCm39) E278G probably damaging Het
Cd84 G A 1: 171,713,994 (GRCm39) probably null Het
Ces2g G T 8: 105,690,623 (GRCm39) A135S possibly damaging Het
Chrm2 A G 6: 36,500,955 (GRCm39) T271A probably benign Het
Col6a3 G T 1: 90,705,249 (GRCm39) Y2824* probably null Het
Cth T A 3: 157,616,575 (GRCm39) R196S probably damaging Het
Cyp2g1 T C 7: 26,514,060 (GRCm39) M222T possibly damaging Het
Depdc5 T A 5: 33,095,042 (GRCm39) M773K probably benign Het
Dmbx1 G A 4: 115,780,884 (GRCm39) P39L probably damaging Het
Dst G C 1: 34,238,432 (GRCm39) W1697C probably damaging Het
Eno1 C T 4: 150,321,208 (GRCm39) probably benign Het
Erc2 G T 14: 27,802,114 (GRCm39) V761L possibly damaging Het
Frem1 A T 4: 82,924,083 (GRCm39) I292N probably damaging Het
Ftdc2 G A 16: 58,458,884 (GRCm39) probably benign Het
Hip1 G T 5: 135,460,571 (GRCm39) L530M possibly damaging Het
Kcna2 A G 3: 107,012,268 (GRCm39) Q283R probably benign Het
Kndc1 G A 7: 139,501,392 (GRCm39) D894N probably damaging Het
Lats1 G T 10: 7,578,681 (GRCm39) G602W probably damaging Het
Lgals12 A G 19: 7,581,356 (GRCm39) L117P probably damaging Het
Mfsd4b1 A T 10: 39,878,680 (GRCm39) L406I possibly damaging Het
Msln A T 17: 25,969,731 (GRCm39) M333K probably benign Het
Mup2 A G 4: 60,139,740 (GRCm39) V16A probably benign Het
Mybpc2 T C 7: 44,166,330 (GRCm39) E220G probably null Het
Myh6 A G 14: 55,197,771 (GRCm39) Y456H probably benign Het
Nlrp1a A G 11: 71,013,934 (GRCm39) S439P probably damaging Het
Nyap1 T C 5: 137,733,194 (GRCm39) E613G probably benign Het
Or10b1 G A 10: 78,355,609 (GRCm39) V56M probably benign Het
Parp8 C T 13: 117,029,562 (GRCm39) V554M probably damaging Het
Phpt1 A T 2: 25,464,750 (GRCm39) D34E probably benign Het
Ppip5k2 G A 1: 97,672,921 (GRCm39) S463L probably benign Het
Prss28 A G 17: 25,530,215 (GRCm39) Q173R probably benign Het
Rtel1 T A 2: 180,988,860 (GRCm39) W441R possibly damaging Het
Serbp1 T C 6: 67,244,025 (GRCm39) probably benign Het
Skint5 T C 4: 113,347,848 (GRCm39) K1319E unknown Het
Slc35a4 G A 18: 36,816,111 (GRCm39) G314S probably damaging Het
Slc8a1 A G 17: 81,956,498 (GRCm39) I180T probably damaging Het
Spire1 G A 18: 67,652,462 (GRCm39) P205L probably benign Het
Tat G T 8: 110,720,547 (GRCm39) G168W probably damaging Het
Thap1 CAGCATCTGCTCGGAGCA CAGCA 8: 26,650,884 (GRCm39) probably null Het
Trh C T 6: 92,219,939 (GRCm39) G126R probably benign Het
Ugcg G A 4: 59,207,843 (GRCm39) G61R probably damaging Het
Uggt1 T C 1: 36,260,306 (GRCm39) T170A probably benign Het
Unc5b G A 10: 60,608,028 (GRCm39) P702S probably damaging Het
Usp8 A G 2: 126,562,073 (GRCm39) D89G possibly damaging Het
Vmn2r1 T A 3: 64,012,674 (GRCm39) I845K probably damaging Het
Vnn3 A G 10: 23,740,498 (GRCm39) N267S possibly damaging Het
Xkr9 A G 1: 13,771,587 (GRCm39) R368G possibly 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
R7367:Cfh UTSW 1 140,014,259 (GRCm39) missense probably damaging 0.97
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 1 140,064,469 (GRCm39) missense probably damaging 0.97
R8742:Cfh UTSW 1 140,029,390 (GRCm39) missense probably damaging 0.98
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
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'- TTGGACTTTAACACTTGGTGGC -3'
(R):5'- CTGGACACATAATTCAAACAGTGTG -3'

Sequencing Primer
(F):5'- GGACTTTAACACTTGGTGGCAAATC -3'
(R):5'- GCCCCCTACAATAGAACATG -3'
Posted On 2022-06-15