Incidental Mutation 'R7852:Cfhr1'
ID 606967
Institutional Source Beutler Lab
Gene Symbol Cfhr1
Ensembl Gene ENSMUSG00000057037
Gene Name complement factor H-related 1
Synonyms Cfhl1
MMRRC Submission 045905-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R7852 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 139474802-139487960 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 139484165 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 117 (V117G)
Ref Sequence ENSEMBL: ENSMUSP00000023965 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023965]
AlphaFold Q61406
Predicted Effect probably damaging
Transcript: ENSMUST00000023965
AA Change: V117G

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000023965
Gene: ENSMUSG00000057037
AA Change: V117G

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933415A04Rik GTGT GTGTTTGT 11: 43,478,253 (GRCm39) probably null Het
Aco1 A G 4: 40,180,263 (GRCm39) D388G probably benign Het
Adgrl1 T G 8: 84,662,187 (GRCm39) L1016R probably damaging Het
Agmo C T 12: 37,292,051 (GRCm39) P4L possibly damaging Het
Agrn A T 4: 156,253,514 (GRCm39) H1792Q probably benign Het
Arhgef40 C T 14: 52,229,254 (GRCm39) L615F unknown Het
Atp6v1b1 A T 6: 83,729,452 (GRCm39) M121L possibly damaging Het
Cd38 C A 5: 44,058,790 (GRCm39) L135M probably damaging Het
Cep152 A T 2: 125,432,033 (GRCm39) N622K possibly damaging Het
Dnajb1 T A 8: 84,336,834 (GRCm39) D201E probably benign Het
Dpysl2 T C 14: 67,100,092 (GRCm39) N48S probably benign Het
Dsc2 A G 18: 20,179,342 (GRCm39) I242T possibly damaging Het
Eif1ad10 A C 12: 88,216,588 (GRCm39) Y95D probably damaging Het
Eif1ad3 G A 12: 87,843,742 (GRCm39) V130M unknown Het
Fam193a C A 5: 34,568,161 (GRCm39) D153E probably benign Het
Flnc G T 6: 29,440,897 (GRCm39) D332Y probably damaging Het
Fstl5 A G 3: 76,615,275 (GRCm39) I779V probably benign Het
Gm29394 T C 15: 57,912,172 (GRCm39) I11V unknown Het
Gm36864 ATCAGAAGTTTC ATC 7: 43,886,361 (GRCm39) probably benign Het
Gnpnat1 G A 14: 45,622,110 (GRCm39) P28S probably damaging Het
Grk5 T C 19: 61,069,383 (GRCm39) probably null Het
Gys2 A T 6: 142,376,059 (GRCm39) F534L probably damaging Het
Igdcc4 G A 9: 65,027,540 (GRCm39) V201I probably benign Het
Khdc4 T A 3: 88,604,043 (GRCm39) S287T probably benign Het
Kif12 G C 4: 63,086,226 (GRCm39) P374A probably benign Het
Krt16 A T 11: 100,137,592 (GRCm39) I371N probably damaging Het
Lrfn2 G A 17: 49,376,972 (GRCm39) V18I possibly damaging Het
Masp2 G A 4: 148,687,189 (GRCm39) E24K probably benign Het
Mdga2 T C 12: 66,517,724 (GRCm39) N37D possibly damaging Het
Med12l T A 3: 59,155,332 (GRCm39) F1171I probably damaging Het
Med22 A T 2: 26,800,376 (GRCm39) Y18N probably damaging Het
Mfsd4b1 T C 10: 39,879,411 (GRCm39) N162S probably benign Het
Micu2 A T 14: 58,169,710 (GRCm39) N213K probably benign Het
Mpc1 C T 17: 8,515,740 (GRCm39) T86I probably damaging Het
Mto1 G T 9: 78,356,820 (GRCm39) V112L possibly damaging Het
Napepld C T 5: 21,888,171 (GRCm39) V93I probably benign Het
Nkx2-2 A T 2: 147,026,189 (GRCm39) M183K probably damaging Het
Nlrp10 A G 7: 108,524,281 (GRCm39) S400P probably damaging Het
Nynrin T C 14: 56,108,886 (GRCm39) L1331P probably damaging Het
Ofcc1 T A 13: 40,333,915 (GRCm39) D392V probably damaging Het
Or10q12 A G 19: 13,745,874 (GRCm39) H56R probably benign Het
Or11a4 T C 17: 37,536,163 (GRCm39) V49A probably benign Het
Or2ag16 A T 7: 106,351,845 (GRCm39) M250K probably damaging Het
Or6c38 T A 10: 128,929,385 (GRCm39) I153F probably benign Het
Patl2 C T 2: 122,009,590 (GRCm39) probably benign Het
Pde8b T G 13: 95,244,205 (GRCm39) D78A probably damaging Het
Pgls T A 8: 72,047,847 (GRCm39) probably null Het
Pik3c2a A G 7: 116,016,693 (GRCm39) S355P probably benign Het
Pole G A 5: 110,454,695 (GRCm39) R976Q probably damaging Het
Ppip5k2 A G 1: 97,668,896 (GRCm39) L511S probably damaging Het
Prcp A T 7: 92,577,900 (GRCm39) N390Y probably benign Het
Rpgrip1 T A 14: 52,383,337 (GRCm39) N752K probably benign Het
Rsl1d1 A G 16: 11,021,098 (GRCm39) S8P probably benign Het
S100a1 C A 3: 90,419,392 (GRCm39) A18S probably benign Het
Slc25a13 A G 6: 6,152,461 (GRCm39) F92S probably damaging Het
Slc35f3 T C 8: 127,121,219 (GRCm39) I360T probably damaging Het
Slc35f6 T C 5: 30,814,159 (GRCm39) Y202H possibly damaging Het
Sox6 A T 7: 115,400,839 (GRCm39) M1K probably null Het
Stx8 G A 11: 67,860,611 (GRCm39) D11N probably damaging Het
Vmn2r130 A G 17: 23,282,788 (GRCm39) N156S probably benign Het
Vmn2r52 T C 7: 9,892,895 (GRCm39) Y748C probably damaging Het
Vmn2r78 T A 7: 86,569,378 (GRCm39) Y90* probably null Het
Zc3h4 A G 7: 16,156,392 (GRCm39) S303G unknown 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
IGL03105:Cfhr1 APN 1 139,475,565 (GRCm39) unclassified probably benign
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
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
Predicted Primers PCR Primer
(F):5'- TGGTACTTAAGACACACTGTAACC -3'
(R):5'- GATCAGTGAAGAAGCAGCTTAC -3'

Sequencing Primer
(F):5'- GTAACCTAAATCCAAATGCCTAAAGG -3'
(R):5'- GGCCTTGTTCAGTAGACAAGATCC -3'
Posted On 2019-12-20