Incidental Mutation 'R1785:Cfh'
ID 196332
Institutional Source Beutler Lab
Gene Symbol Cfh
Ensembl Gene ENSMUSG00000026365
Gene Name complement component factor h
Synonyms Sas-1, Mud-1, Sas1
MMRRC Submission 039816-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # R1785 (G1)
Quality Score 161
Status Not validated
Chromosome 1
Chromosomal Location 140013593-140111149 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 140075435 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 268 (V268I)
Ref Sequence ENSEMBL: ENSMUSP00000141209 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066859] [ENSMUST00000111976] [ENSMUST00000111977] [ENSMUST00000123238] [ENSMUST00000192880]
AlphaFold P06909
Predicted Effect probably benign
Transcript: ENSMUST00000066859
AA Change: V250I

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000066677
Gene: ENSMUSG00000026365
AA Change: V250I

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: V268I

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000107607
Gene: ENSMUSG00000026365
AA Change: V268I

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: V268I

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000107608
Gene: ENSMUSG00000026365
AA Change: V268I

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: V250I

PolyPhen 2 Score 0.442 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000115166
Gene: ENSMUSG00000026365
AA Change: V250I

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 noncoding transcript
Transcript: ENSMUST00000148225
Predicted Effect possibly damaging
Transcript: ENSMUST00000192880
AA Change: V268I

PolyPhen 2 Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000141209
Gene: ENSMUSG00000026365
AA Change: V268I

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 unknown
Transcript: ENSMUST00000192919
AA Change: V39I
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.6%
  • 20x: 93.4%
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: 242 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 G A 14: 118,790,761 (GRCm39) R749C probably damaging Het
Acot11 T C 4: 106,619,232 (GRCm39) E201G probably damaging Het
Adgrf4 C T 17: 42,977,789 (GRCm39) R518Q possibly damaging Het
Akap13 G T 7: 75,261,182 (GRCm39) A1269S probably benign Het
Aldh4a1 T C 4: 139,371,439 (GRCm39) V451A probably benign Het
Aox3 A G 1: 58,209,002 (GRCm39) H845R probably damaging Het
Arhgap23 A G 11: 97,342,387 (GRCm39) D223G possibly damaging Het
Asb6 G A 2: 30,717,088 (GRCm39) R46W probably damaging Het
Aspm A G 1: 139,401,312 (GRCm39) I1111V probably benign Het
C4bp C G 1: 130,570,725 (GRCm39) V284L probably benign Het
Cacna1s T C 1: 136,046,454 (GRCm39) F1761S probably benign Het
Cad T A 5: 31,215,416 (GRCm39) F76I probably damaging Het
Camsap2 C T 1: 136,209,053 (GRCm39) R802Q probably benign Het
Capn11 A G 17: 45,949,623 (GRCm39) S448P probably benign Het
Capn9 G A 8: 125,332,450 (GRCm39) G430R possibly damaging Het
Cbx5 G A 15: 103,121,551 (GRCm39) R29C probably null Het
Ccdc93 C T 1: 121,383,855 (GRCm39) P192L probably benign Het
Ccdc93 T C 1: 121,389,668 (GRCm39) V237A probably benign Het
Ccn4 G A 15: 66,778,338 (GRCm39) C53Y probably damaging Het
Cd55 C T 1: 130,377,160 (GRCm39) V333I probably benign Het
Cd55 C A 1: 130,387,370 (GRCm39) A143S probably benign Het
Cdh19 C A 1: 110,821,114 (GRCm39) E541D probably damaging Het
Cdh20 C G 1: 109,993,465 (GRCm39) L307V possibly damaging Het
Cfhr2 A G 1: 139,741,180 (GRCm39) M265T probably benign Het
Cfhr2 A C 1: 139,741,197 (GRCm39) N259K probably benign Het
Chi3l1 C T 1: 134,116,267 (GRCm39) A250V probably damaging Het
Cntnap5a C T 1: 116,382,873 (GRCm39) T1047I probably benign Het
Cntnap5a C A 1: 116,382,734 (GRCm39) L1001I probably benign Het
Cntnap5a T C 1: 116,382,831 (GRCm39) L1033S probably benign Het
Cntnap5c A G 17: 58,469,286 (GRCm39) I623V probably benign Het
Cntrl CAGAG CAG 2: 35,012,818 (GRCm39) probably null Het
Crb1 G A 1: 139,168,876 (GRCm39) P881S probably damaging Het
Crb1 C T 1: 139,170,733 (GRCm39) G825R probably damaging Het
Crb1 C T 1: 139,171,155 (GRCm39) R684H probably benign Het
Crb1 T C 1: 139,162,517 (GRCm39) M1214V probably benign Het
Crb1 A T 1: 139,165,360 (GRCm39) H921Q probably benign Het
Crocc T C 4: 140,749,113 (GRCm39) D1564G probably damaging Het
Csf1r A T 18: 61,262,149 (GRCm39) M802L probably damaging Het
Cxcr4 C T 1: 128,517,014 (GRCm39) V216I probably benign Het
Cyb5r1 C T 1: 134,335,405 (GRCm39) R147W probably damaging Het
Daxx T C 17: 34,130,816 (GRCm39) I277T probably damaging Het
Dctn4 T C 18: 60,679,407 (GRCm39) probably null Het
Ddx59 T C 1: 136,344,791 (GRCm39) V154A probably benign Het
Dnah5 A G 15: 28,313,932 (GRCm39) Q1916R probably damaging Het
Dnah8 T C 17: 30,941,911 (GRCm39) V1719A probably damaging Het
Dsel T C 1: 111,787,187 (GRCm39) N1116S probably benign Het
Dsel G C 1: 111,787,724 (GRCm39) T937S probably benign Het
Dstyk C T 1: 132,384,722 (GRCm39) L739F probably damaging Het
En1 A G 1: 120,531,350 (GRCm39) S197G unknown Het
Enah A T 1: 181,783,994 (GRCm39) M105K unknown Het
Epm2a A G 10: 11,219,426 (GRCm39) E71G probably benign Het
Etnk2 C A 1: 133,293,325 (GRCm39) D89E probably benign Het
Etnk2 G T 1: 133,293,503 (GRCm39) G149W probably damaging Het
Etnk2 C T 1: 133,293,554 (GRCm39) R166* probably null Het
Etnk2 G A 1: 133,293,555 (GRCm39) R166Q probably benign Het
Etnk2 T A 1: 133,304,653 (GRCm39) V292E probably benign Het
Etnk2 A G 1: 133,291,661 (GRCm39) S54G probably benign Het
Eya1 A G 1: 14,241,198 (GRCm39) V573A probably benign Het
Faim2 A G 15: 99,410,423 (GRCm39) L235P probably damaging Het
Fam221b T A 4: 43,665,537 (GRCm39) H307L probably damaging Het
Fam72a C T 1: 131,466,633 (GRCm39) T139M probably benign Het
Fam72a T C 1: 131,458,406 (GRCm39) I56T probably benign Het
Fbxw10 T A 11: 62,750,683 (GRCm39) I422N probably damaging Het
Fcamr A C 1: 130,732,364 (GRCm39) N117T probably benign Het
Fcamr A G 1: 130,739,317 (GRCm39) I206V probably benign Het
Fcamr G A 1: 130,740,366 (GRCm39) G262S probably benign Het
Fcamr A G 1: 130,740,429 (GRCm39) I283V probably benign Het
Fcamr T C 1: 130,740,475 (GRCm39) V298A probably benign Het
Fcamr A G 1: 130,740,546 (GRCm39) M322V probably benign Het
Fcamr C T 1: 130,740,553 (GRCm39) P324L probably benign Het
Fcamr A G 1: 130,742,334 (GRCm39) N574D probably benign Het
Fcamr A G 1: 130,732,306 (GRCm39) R98G probably benign Het
Fcmr T C 1: 130,806,006 (GRCm39) S321P probably benign Het
Fcmr A G 1: 130,803,711 (GRCm39) T172A probably benign Het
Foxn4 C T 5: 114,401,193 (GRCm39) D37N probably damaging Het
Gabarap C T 11: 69,882,515 (GRCm39) probably benign Het
Gemin4 G C 11: 76,101,876 (GRCm39) P962A probably damaging Het
Gli2 G T 1: 118,929,774 (GRCm39) H44Q probably benign Het
Gli2 C T 1: 118,795,817 (GRCm39) A113T possibly damaging Het
Glrx2 C T 1: 143,615,478 (GRCm39) A27V possibly damaging Het
Gm10563 C T 4: 155,720,337 (GRCm39) probably benign Het
Gm28040 AGTG AGTGGCACCTTTGGTG 1: 133,255,059 (GRCm39) probably benign Het
Gm8374 T C 14: 18,537,078 (GRCm39) T49A probably damaging Het
Golim4 A T 3: 75,815,456 (GRCm39) V116D probably damaging Het
Gper1 C T 5: 139,412,477 (GRCm39) P274L probably damaging Het
Gpr132 A G 12: 112,816,023 (GRCm39) S268P probably damaging Het
Gpr25 G A 1: 136,188,448 (GRCm39) P55L probably benign Het
Grm7 G C 6: 111,335,256 (GRCm39) D556H probably damaging Het
H2-K2 C A 17: 34,216,322 (GRCm39) E275* probably null Het
Ift20 G A 11: 78,430,860 (GRCm39) E68K probably damaging Het
Igfn1 T C 1: 135,926,421 (GRCm39) I10V unknown Het
Igfn1 C T 1: 135,899,865 (GRCm39) R482Q probably benign Het
Igfn1 T C 1: 135,898,149 (GRCm39) S806G probably benign Het
Igfn1 G A 1: 135,895,937 (GRCm39) A1543V probably benign Het
Igfn1 G A 1: 135,887,666 (GRCm39) P2466L probably damaging Het
Igfn1 C T 1: 135,907,653 (GRCm39) A231T probably benign Het
Igfn1 G A 1: 135,910,213 (GRCm39) R124W probably benign Het
Igfn1 T C 1: 135,926,363 (GRCm39) E29G probably benign Het
Ikbke C A 1: 131,193,674 (GRCm39) A459S probably benign Het
Ikbke T C 1: 131,197,560 (GRCm39) S447G probably benign Het
Insrr G A 3: 87,717,879 (GRCm39) probably null Het
Ipo9 ATCCTCCTCCTCCTCCTC ATCCTCCTCCTCCTCCTCCTC 1: 135,314,006 (GRCm39) probably benign Het
Ipo9 A G 1: 135,329,988 (GRCm39) V484A probably benign Het
Ipo9 TCC TCCGCC 1: 135,314,019 (GRCm39) probably benign Het
Jarid2 T A 13: 45,059,752 (GRCm39) N661K probably damaging Het
Kcnt2 G A 1: 140,282,285 (GRCm39) S90N probably benign Het
Kif14 T C 1: 136,453,521 (GRCm39) V1433A probably benign Het
Kif14 T C 1: 136,443,699 (GRCm39) F1291L probably benign Het
Kif14 C T 1: 136,431,169 (GRCm39) L1189F probably benign Het
Kif14 A G 1: 136,418,070 (GRCm39) S868G probably benign Het
Kif14 G A 1: 136,406,103 (GRCm39) A556T probably benign Het
Kif14 A G 1: 136,396,713 (GRCm39) K340E probably damaging Het
Kif14 A G 1: 136,396,017 (GRCm39) N108D probably benign Het
Kmt2a G A 9: 44,730,972 (GRCm39) probably benign Het
Krtap16-1 A T 11: 99,876,602 (GRCm39) C267* probably null Het
Lad1 C T 1: 135,755,761 (GRCm39) R346C probably damaging Het
Lad1 C T 1: 135,755,119 (GRCm39) P132S possibly damaging Het
Lax1 T C 1: 133,608,307 (GRCm39) N145D probably benign Het
Lax1 G A 1: 133,611,372 (GRCm39) P67S probably damaging Het
Lax1 T C 1: 133,607,716 (GRCm39) R342G probably benign Het
Lgr6 A T 1: 134,915,747 (GRCm39) S334T probably benign Het
Lgr6 G T 1: 134,918,373 (GRCm39) H263N probably benign Het
Lgr6 C T 1: 134,931,214 (GRCm39) S3N probably benign Het
Lgr6 C T 1: 134,914,826 (GRCm39) V641I probably benign Het
Lhx6 G T 2: 35,977,470 (GRCm39) C327* probably null Het
Lifr A G 15: 7,211,337 (GRCm39) D625G possibly damaging Het
Lman1 A T 18: 66,124,653 (GRCm39) M362K probably damaging Het
Lmod1 C T 1: 135,291,811 (GRCm39) T222I probably benign Het
Lmtk2 C T 5: 144,111,806 (GRCm39) T842I possibly damaging Het
Lpin3 T A 2: 160,738,729 (GRCm39) L227* probably null Het
Magel2 A T 7: 62,027,486 (GRCm39) H130L unknown Het
Mki67 T A 7: 135,305,970 (GRCm39) probably null Het
Mnx1 T A 5: 29,679,187 (GRCm39) S299C unknown Het
Mov10 A T 3: 104,725,432 (GRCm39) I59N possibly damaging Het
Mpo A G 11: 87,688,187 (GRCm39) D282G possibly damaging Het
Mroh3 G C 1: 136,119,882 (GRCm39) Q440E possibly damaging Het
Mybph C T 1: 134,125,218 (GRCm39) R249C probably benign Het
Myo7b T C 18: 32,127,950 (GRCm39) I581V probably benign Het
Nav1 A T 1: 135,512,465 (GRCm39) D198E possibly damaging Het
Ncdn T A 4: 126,639,066 (GRCm39) probably null Het
Ndufa4 A T 6: 11,900,574 (GRCm39) V37E probably benign Het
Nop9 T C 14: 55,988,599 (GRCm39) L347P probably damaging Het
Nr5a2 C A 1: 136,879,863 (GRCm39) R35L probably benign Het
Nrp1 A T 8: 129,224,997 (GRCm39) E782D probably damaging Het
Obsl1 G A 1: 75,486,756 (GRCm38) T1764M probably benign Het
Optc A T 1: 133,831,534 (GRCm39) probably null Het
Optc C G 1: 133,832,908 (GRCm39) S64T probably benign Het
Or11m3 A T 15: 98,395,716 (GRCm39) D121V probably damaging Het
Or1j13 A G 2: 36,370,059 (GRCm39) S28P possibly damaging Het
Or2z8 A G 8: 72,812,280 (GRCm39) Y252C probably damaging Het
Or4a68 C T 2: 89,269,927 (GRCm39) R232H probably benign Het
Or5k3 A G 16: 58,969,660 (GRCm39) Y149C probably damaging Het
Pard6g T C 18: 80,160,523 (GRCm39) V212A probably damaging Het
Pbx1 T G 1: 168,258,947 (GRCm39) I43L probably benign Het
Phf2 T C 13: 48,971,043 (GRCm39) D543G unknown Het
Pigr C T 1: 130,772,259 (GRCm39) A159V possibly damaging Het
Pik3c2b C T 1: 132,994,365 (GRCm39) P110S probably benign Het
Pkd1 T C 17: 24,810,073 (GRCm39) V3558A probably benign Het
Pla2g6 T C 15: 79,190,545 (GRCm39) Y339C probably benign Het
Plcb1 T A 2: 135,167,587 (GRCm39) Y460* probably null Het
Plekha6 C G 1: 133,215,584 (GRCm39) T792S probably benign Het
Ppard T G 17: 28,517,455 (GRCm39) probably null Het
Ppfia4 G A 1: 134,227,059 (GRCm39) P1159S probably benign Het
Ppm1f A G 16: 16,728,834 (GRCm39) T79A probably benign Het
Prelp C T 1: 133,842,869 (GRCm39) R92K probably benign Het
Ptgdr A T 14: 45,096,036 (GRCm39) Y225* probably null Het
Ptpn22 A G 3: 103,781,368 (GRCm39) I90V probably damaging Het
Ptpn7 A G 1: 135,062,213 (GRCm39) Q53R probably benign Het
Ptprc T G 1: 138,027,414 (GRCm39) N478T probably benign Het
Ptprc T C 1: 138,039,992 (GRCm39) K212E possibly damaging Het
Ptprc A G 1: 138,035,575 (GRCm39) V400A probably benign Het
Ptprc C A 1: 138,035,562 (GRCm39) E402D probably benign Het
Ptprc A G 1: 138,035,561 (GRCm39) S405P probably benign Het
Pus7l T C 15: 94,438,518 (GRCm39) N109S probably benign Het
Rab29 A G 1: 131,799,848 (GRCm39) Q141R probably benign Het
Ren1 T A 1: 133,281,944 (GRCm39) W22R probably damaging Het
Ren1 C G 1: 133,278,516 (GRCm39) probably null Het
Ren1 C G 1: 133,287,745 (GRCm39) L360V probably benign Het
Ren1 A T 1: 133,287,721 (GRCm39) N352Y probably benign Het
Ren1 A T 1: 133,286,817 (GRCm39) E315D probably benign Het
Ren1 C T 1: 133,281,975 (GRCm39) T32I probably benign Het
Rfwd3 A T 8: 112,024,034 (GRCm39) V96E probably benign Het
Ripk4 A C 16: 97,551,331 (GRCm39) V149G probably damaging Het
Rnpep C T 1: 135,190,834 (GRCm39) A571T possibly damaging Het
Rnpep G C 1: 135,211,715 (GRCm39) A11G probably benign Het
Ro60 T C 1: 143,635,772 (GRCm39) D458G probably benign Het
Ro60 C T 1: 143,635,752 (GRCm39) V465I probably benign Het
Rora G A 9: 69,284,119 (GRCm39) A396T probably benign Het
Scap C T 9: 110,203,123 (GRCm39) L266F probably damaging Het
Scn5a A T 9: 119,350,195 (GRCm39) I893N probably damaging Het
Sctr T C 1: 119,959,386 (GRCm39) F110L probably benign Het
Sctr G A 1: 119,990,987 (GRCm39) S440N possibly damaging Het
Sctr G T 1: 119,990,976 (GRCm39) E453D probably benign Het
Septin4 A T 11: 87,474,262 (GRCm39) Q60L probably benign Het
Serpinb10 C T 1: 107,466,203 (GRCm39) S63F probably damaging Het
Serpinb2 C A 1: 107,451,564 (GRCm39) A239E probably benign Het
Serpinb2 C T 1: 107,451,620 (GRCm39) H258Y probably benign Het
Serpinb2 C T 1: 107,451,624 (GRCm39) T259I probably benign Het
Serpinb2 A C 1: 107,452,273 (GRCm39) S284R probably benign Het
Serpinb2 G A 1: 107,443,365 (GRCm39) A55T probably damaging Het
Serpinb8 A C 1: 107,534,734 (GRCm39) L268F probably benign Het
Serpinb8 A G 1: 107,525,257 (GRCm39) S20G probably benign Het
Serpinb8 G A 1: 107,526,684 (GRCm39) A75T probably benign Het
Slc26a9 C T 1: 131,691,608 (GRCm39) A617V probably benign Het
Slc26a9 C A 1: 131,693,750 (GRCm39) R747S probably benign Het
Slc9a4 T G 1: 40,646,901 (GRCm39) probably null Het
Slc9a9 A T 9: 94,901,246 (GRCm39) N393I possibly damaging Het
Stard13 T C 5: 150,968,633 (GRCm39) Y879C probably damaging Het
Steap3 G A 1: 120,162,108 (GRCm39) A350V probably benign Het
Steap3 T C 1: 120,155,480 (GRCm39) N493S probably benign Het
Synj1 G T 16: 90,761,405 (GRCm39) A687D probably damaging Het
Tacc1 A T 8: 25,654,509 (GRCm39) N271K probably damaging Het
Tbx1 A C 16: 18,403,879 (GRCm39) F138V probably damaging Het
Tecpr1 T A 5: 144,145,463 (GRCm39) T595S probably benign Het
Thsd7b T A 1: 129,595,674 (GRCm39) F498Y probably benign Het
Thsd7b C T 1: 129,556,628 (GRCm39) T328I probably damaging Het
Thsd7b A C 1: 130,044,368 (GRCm39) Q1116P probably benign Het
Thsd7b G C 1: 129,605,920 (GRCm39) A554P probably benign Het
Tnnt2 C T 1: 135,773,244 (GRCm39) probably benign Het
Trappc8 A G 18: 20,967,997 (GRCm39) probably null Het
Trim33 AGACTG A 3: 103,236,536 (GRCm39) probably null Het
Trim41 C A 11: 48,698,419 (GRCm39) G516W probably damaging Het
Ttn C T 2: 76,643,683 (GRCm39) G11436R probably damaging Het
Ttn A C 2: 76,716,270 (GRCm39) probably null Het
Txk T A 5: 72,853,922 (GRCm39) T472S probably damaging Het
Ube2t C T 1: 134,899,905 (GRCm39) A149V probably benign Het
Ubr4 T A 4: 139,151,256 (GRCm39) M1897K probably damaging Het
Uggt2 A G 14: 119,298,788 (GRCm39) L391P probably damaging Het
Vmn2r55 A T 7: 12,402,111 (GRCm39) D392E probably damaging Het
Vps13b A G 15: 35,879,937 (GRCm39) Y3004C probably damaging Het
Vps26a A T 10: 62,304,176 (GRCm39) D180E probably benign Het
Vps35l T C 7: 118,393,798 (GRCm39) Y516H probably damaging Het
Xirp1 T G 9: 120,016,907 (GRCm38) Q970P probably benign Het
Zbtb46 C T 2: 181,033,224 (GRCm39) C479Y probably damaging Het
Zc3h11a G A 1: 133,549,892 (GRCm39) P695S probably benign Het
Zc3h11a C T 1: 133,552,359 (GRCm39) V583I probably benign Het
Zdhhc13 T A 7: 48,474,392 (GRCm39) L548Q possibly damaging Het
Zfp236 T C 18: 82,639,429 (GRCm39) M1225V probably benign Het
Zfp281 GCGGCAGCTCCGGCAGC GCGGCAGCTCCGGCAGCTCCGGCAGC 1: 136,553,091 (GRCm39) probably benign Het
Zfyve26 T A 12: 79,315,208 (GRCm39) I1423F possibly damaging Het
Zp3r C A 1: 130,547,151 (GRCm39) E8D possibly damaging Het
Zp3r A G 1: 130,524,551 (GRCm39) L164P probably benign 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 1 140,075,435 (GRCm39) missense possibly damaging 0.55
R1729:Cfh UTSW 1 140,064,526 (GRCm39) missense probably benign 0.02
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 1 140,064,526 (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
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'- TGCCTGAGGACTAGTGAGATACTGC -3'
(R):5'- ACCCATACCTACTGTGGCTTAAGGAC -3'

Sequencing Primer
(F):5'- ACTAGTGAGATACTGCTTCTCTG -3'
(R):5'- CCTACTGTGGCTTAAGGACTAATG -3'
Posted On 2014-05-23