Incidental Mutation 'R1873:Cfhr4'
ID 210914
Institutional Source Beutler Lab
Gene Symbol Cfhr4
Ensembl Gene ENSMUSG00000070594
Gene Name complement factor H-related 4
Synonyms Gm4788
MMRRC Submission 039895-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R1873 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 139625657-139708977 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 139702398 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 29 (E29K)
Ref Sequence ENSEMBL: ENSMUSP00000107620 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027612] [ENSMUST00000111986] [ENSMUST00000111989]
AlphaFold E9Q8B5
Predicted Effect probably benign
Transcript: ENSMUST00000027612
AA Change: E29K

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000027612
Gene: ENSMUSG00000070594
AA Change: E29K

DomainStartEndE-ValueType
CCP 28 88 1.65e-2 SMART
CCP 92 145 1.15e-10 SMART
CCP 151 208 5.65e-10 SMART
CCP 212 267 1.12e-4 SMART
CCP 272 325 4.52e-9 SMART
CCP 332 386 9.1e-14 SMART
CCP 393 446 1.58e-13 SMART
CCP 455 505 4.92e-1 SMART
CCP 511 564 8.9e-8 SMART
CCP 569 622 4.18e-13 SMART
CCP 627 681 3.5e-15 SMART
CCP 688 742 5.69e-15 SMART
CCP 746 807 2.77e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111986
AA Change: E29K

PolyPhen 2 Score 0.377 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000107617
Gene: ENSMUSG00000070594
AA Change: E29K

DomainStartEndE-ValueType
CCP 28 88 1.65e-2 SMART
CCP 92 145 1.15e-10 SMART
CCP 151 208 5.65e-10 SMART
CCP 212 267 1.12e-4 SMART
CCP 272 325 4.52e-9 SMART
CCP 333 387 9.1e-14 SMART
CCP 394 447 1.58e-13 SMART
CCP 456 506 4.92e-1 SMART
CCP 512 565 8.9e-8 SMART
CCP 571 635 2.66e-6 SMART
CCP 640 693 4.18e-13 SMART
CCP 700 754 5.69e-15 SMART
CCP 758 819 2.77e0 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000111989
AA Change: E29K

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000107620
Gene: ENSMUSG00000070594
AA Change: E29K

DomainStartEndE-ValueType
CCP 28 88 1.65e-2 SMART
CCP 92 145 1.15e-10 SMART
CCP 151 208 5.65e-10 SMART
CCP 212 267 1.12e-4 SMART
CCP 272 325 4.52e-9 SMART
CCP 333 387 9.1e-14 SMART
CCP 394 447 1.58e-13 SMART
CCP 456 506 4.92e-1 SMART
CCP 512 565 8.9e-8 SMART
CCP 571 635 2.66e-6 SMART
CCP 640 693 4.18e-13 SMART
CCP 698 752 3.5e-15 SMART
CCP 759 813 5.69e-15 SMART
CCP 817 878 2.77e0 SMART
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.4%
  • 20x: 92.9%
Validation Efficiency 98% (82/84)
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T A 11: 109,870,781 (GRCm39) I124L probably benign Het
Abi3bp A G 16: 56,394,862 (GRCm39) Y190C probably damaging Het
Adam34 A C 8: 44,104,843 (GRCm39) N267K probably benign Het
Anxa5 T C 3: 36,503,551 (GRCm39) D301G probably damaging Het
Atf7ip G T 6: 136,536,886 (GRCm39) D40Y probably damaging Het
Cacna2d2 T G 9: 107,391,071 (GRCm39) M400R probably damaging Het
Cd96 C A 16: 45,938,335 (GRCm39) L43F probably damaging Het
Cep120 T C 18: 53,871,560 (GRCm39) E104G probably damaging Het
Cfap221 T C 1: 119,881,389 (GRCm39) I358V probably benign Het
Chil4 C T 3: 106,113,414 (GRCm39) E168K probably benign Het
Clca3a1 A G 3: 144,452,590 (GRCm39) V631A probably damaging Het
Cluh C T 11: 74,552,902 (GRCm39) A649V possibly damaging Het
Commd9 A G 2: 101,727,502 (GRCm39) T99A probably benign Het
Csgalnact1 T C 8: 68,854,036 (GRCm39) N255S probably benign Het
Cyth3 T A 5: 143,683,516 (GRCm39) H138Q possibly damaging Het
Dnah7a A T 1: 53,495,691 (GRCm39) probably benign Het
Fbxl18 G A 5: 142,871,978 (GRCm39) A419V probably damaging Het
Fyco1 A G 9: 123,652,303 (GRCm39) V1135A probably benign Het
Glcci1 C A 6: 8,537,837 (GRCm39) H152N probably benign Het
Gm10477 T A X: 55,570,127 (GRCm39) F9Y probably damaging Het
Gnrhr A G 5: 86,330,060 (GRCm39) L320P probably damaging Het
Gorasp1 A T 9: 119,759,306 (GRCm39) S138T probably benign Het
Hars1 C A 18: 36,900,294 (GRCm39) Q469H probably damaging Het
Homer2 T C 7: 81,286,111 (GRCm39) K34E probably damaging Het
Hscb T C 5: 110,978,823 (GRCm39) I198V probably benign Het
Kat6b T C 14: 21,567,057 (GRCm39) S39P probably damaging Het
Kcnk12 G T 17: 88,053,499 (GRCm39) Q388K probably damaging Het
Kcnq3 A G 15: 65,874,104 (GRCm39) I548T probably benign Het
Mark2 A G 19: 7,261,880 (GRCm39) Y351H probably damaging Het
Masp2 A T 4: 148,698,952 (GRCm39) I678F probably damaging Het
Mc4r A T 18: 66,992,531 (GRCm39) I194N probably damaging Het
Ms4a6d A G 19: 11,579,223 (GRCm39) S85P probably damaging Het
Myh4 T A 11: 67,145,569 (GRCm39) Y1351N probably benign Het
Myo16 A G 8: 10,322,789 (GRCm39) D73G probably damaging Het
Mzt1 C T 14: 99,278,097 (GRCm39) probably null Het
Nalcn G A 14: 123,521,013 (GRCm39) H1631Y probably benign Het
Ncf2 A G 1: 152,701,661 (GRCm39) N213S probably benign Het
Nf1 C A 11: 79,437,987 (GRCm39) T99K probably damaging Het
Nsf T C 11: 103,749,843 (GRCm39) S547G probably damaging Het
Ntrk3 T A 7: 78,112,587 (GRCm39) I190F probably benign Het
Obsl1 T C 1: 75,474,877 (GRCm39) Y841C probably damaging Het
Ogdh A T 11: 6,290,438 (GRCm39) probably benign Het
Or2ag12 T A 7: 106,277,691 (GRCm39) M1L probably damaging Het
Or5b12 C T 19: 12,896,852 (GRCm39) V274M probably damaging Het
Otog G A 7: 45,918,767 (GRCm39) V948I probably damaging Het
Plekhm1 T C 11: 103,264,824 (GRCm39) D880G probably benign Het
Pnliprp2 G T 19: 58,751,821 (GRCm39) V189L probably benign Het
Polg A G 7: 79,106,241 (GRCm39) L678S probably benign Het
Ptprm C T 17: 66,995,350 (GRCm39) V1293I probably damaging Het
Pwwp3a T A 10: 80,068,442 (GRCm39) D195E possibly damaging Het
Rhou A T 8: 124,387,990 (GRCm39) R241W probably damaging Het
Rtn4 A T 11: 29,686,437 (GRCm39) N264I probably damaging Het
Sez6l T C 5: 112,621,276 (GRCm39) probably benign Het
Sost T C 11: 101,855,069 (GRCm39) E80G probably damaging Het
Spag16 C T 1: 69,935,744 (GRCm39) probably benign Het
Speer4f2 A T 5: 17,579,447 (GRCm39) N82I probably damaging Het
Spef2 C T 15: 9,584,194 (GRCm39) E1624K probably damaging Het
Taf1b T A 12: 24,606,668 (GRCm39) L496Q possibly damaging Het
Tarbp1 A G 8: 127,173,786 (GRCm39) I976T probably damaging Het
Tex14 T A 11: 87,390,431 (GRCm39) V376D probably damaging Het
Timm21 G C 18: 84,967,387 (GRCm39) L130V probably damaging Het
Tm9sf1 T C 14: 55,873,680 (GRCm39) D606G probably damaging Het
Tmc2 A C 2: 130,090,676 (GRCm39) N674T possibly damaging Het
Top3a C A 11: 60,638,810 (GRCm39) E562* probably null Het
Umodl1 A T 17: 31,201,238 (GRCm39) D389V probably damaging Het
Uso1 T C 5: 92,340,718 (GRCm39) probably benign Het
Vmn1r205 A G 13: 22,776,223 (GRCm39) V293A possibly damaging Het
Vmn2r107 A G 17: 20,565,840 (GRCm39) T52A probably benign Het
Vmn2r4 C T 3: 64,298,479 (GRCm39) V461I possibly damaging Het
Vmn2r99 A T 17: 19,582,415 (GRCm39) I7F probably benign Het
Vps11 A G 9: 44,271,233 (GRCm39) F80S probably damaging Het
Wdr43 A G 17: 71,940,647 (GRCm39) S258G probably benign Het
Zbtb24 A G 10: 41,327,123 (GRCm39) D3G probably benign Het
Zc3hav1 C T 6: 38,309,692 (GRCm39) V377I possibly damaging Het
Zfp668 T C 7: 127,465,654 (GRCm39) probably null Het
Other mutations in Cfhr4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00906:Cfhr4 APN 1 139,659,312 (GRCm39) missense probably damaging 0.99
IGL01088:Cfhr4 APN 1 139,625,823 (GRCm39) utr 3 prime probably benign
IGL01419:Cfhr4 APN 1 139,667,382 (GRCm39) critical splice acceptor site probably null
IGL01552:Cfhr4 APN 1 139,667,040 (GRCm39) missense probably damaging 1.00
IGL01924:Cfhr4 APN 1 139,666,944 (GRCm39) missense probably damaging 0.99
IGL02032:Cfhr4 APN 1 139,702,284 (GRCm39) missense probably damaging 1.00
IGL02254:Cfhr4 APN 1 139,661,143 (GRCm39) splice site probably benign
IGL02318:Cfhr4 APN 1 139,708,835 (GRCm39) missense probably benign 0.20
IGL02527:Cfhr4 APN 1 139,680,783 (GRCm39) missense probably damaging 1.00
IGL02531:Cfhr4 APN 1 139,702,307 (GRCm39) missense probably benign 0.10
IGL02587:Cfhr4 APN 1 139,629,668 (GRCm39) missense probably damaging 1.00
IGL02644:Cfhr4 APN 1 139,708,905 (GRCm39) start codon destroyed probably null 0.63
IGL02852:Cfhr4 APN 1 139,701,754 (GRCm39) missense probably damaging 1.00
IGL02963:Cfhr4 APN 1 139,659,334 (GRCm39) nonsense probably null
IGL03084:Cfhr4 APN 1 139,708,880 (GRCm39) missense possibly damaging 0.94
R0131:Cfhr4 UTSW 1 139,682,009 (GRCm39) missense probably damaging 0.98
R0131:Cfhr4 UTSW 1 139,682,009 (GRCm39) missense probably damaging 0.98
R0132:Cfhr4 UTSW 1 139,682,009 (GRCm39) missense probably damaging 0.98
R0549:Cfhr4 UTSW 1 139,667,226 (GRCm39) missense probably damaging 1.00
R0558:Cfhr4 UTSW 1 139,667,230 (GRCm39) missense probably damaging 0.99
R0610:Cfhr4 UTSW 1 139,629,584 (GRCm39) missense probably benign 0.20
R1341:Cfhr4 UTSW 1 139,660,131 (GRCm39) missense probably damaging 0.98
R1460:Cfhr4 UTSW 1 139,625,934 (GRCm39) missense probably damaging 0.99
R1544:Cfhr4 UTSW 1 139,664,608 (GRCm39) missense probably damaging 1.00
R2032:Cfhr4 UTSW 1 139,660,993 (GRCm39) splice site probably benign
R2111:Cfhr4 UTSW 1 139,702,417 (GRCm39) splice site probably benign
R2179:Cfhr4 UTSW 1 139,659,279 (GRCm39) missense probably damaging 1.00
R3806:Cfhr4 UTSW 1 139,680,773 (GRCm39) missense probably damaging 1.00
R4356:Cfhr4 UTSW 1 139,660,048 (GRCm39) missense probably damaging 1.00
R4747:Cfhr4 UTSW 1 139,625,922 (GRCm39) missense probably damaging 1.00
R4838:Cfhr4 UTSW 1 139,661,181 (GRCm39) missense probably damaging 1.00
R4867:Cfhr4 UTSW 1 139,702,213 (GRCm39) critical splice donor site probably null
R4910:Cfhr4 UTSW 1 139,702,301 (GRCm39) missense probably damaging 1.00
R4911:Cfhr4 UTSW 1 139,702,301 (GRCm39) missense probably damaging 1.00
R5050:Cfhr4 UTSW 1 139,664,578 (GRCm39) missense probably damaging 0.99
R5120:Cfhr4 UTSW 1 139,680,841 (GRCm39) missense probably benign 0.39
R5259:Cfhr4 UTSW 1 139,668,233 (GRCm39) missense probably damaging 1.00
R5504:Cfhr4 UTSW 1 139,629,558 (GRCm39) missense probably benign 0.18
R5825:Cfhr4 UTSW 1 139,702,336 (GRCm39) splice site probably null
R5949:Cfhr4 UTSW 1 139,660,887 (GRCm39) missense probably damaging 0.98
R6140:Cfhr4 UTSW 1 139,660,133 (GRCm39) missense probably damaging 1.00
R6200:Cfhr4 UTSW 1 139,682,073 (GRCm39) missense probably damaging 0.97
R6254:Cfhr4 UTSW 1 139,682,128 (GRCm39) missense probably damaging 0.98
R6255:Cfhr4 UTSW 1 139,680,749 (GRCm39) nonsense probably null
R6334:Cfhr4 UTSW 1 139,701,662 (GRCm39) splice site probably null
R6611:Cfhr4 UTSW 1 139,660,128 (GRCm39) missense probably damaging 1.00
R6798:Cfhr4 UTSW 1 139,625,859 (GRCm39) missense probably benign 0.20
R6800:Cfhr4 UTSW 1 139,629,719 (GRCm39) missense possibly damaging 0.85
R6895:Cfhr4 UTSW 1 139,668,210 (GRCm39) missense possibly damaging 0.84
R6904:Cfhr4 UTSW 1 139,659,391 (GRCm39) missense possibly damaging 0.79
R6994:Cfhr4 UTSW 1 139,664,668 (GRCm39) missense possibly damaging 0.67
R7173:Cfhr4 UTSW 1 139,659,415 (GRCm39) nonsense probably null
R7184:Cfhr4 UTSW 1 139,660,822 (GRCm39) missense possibly damaging 0.65
R7192:Cfhr4 UTSW 1 139,667,033 (GRCm39) missense probably damaging 0.96
R7205:Cfhr4 UTSW 1 139,680,788 (GRCm39) nonsense probably null
R7302:Cfhr4 UTSW 1 139,667,436 (GRCm39) splice site probably null
R7308:Cfhr4 UTSW 1 139,682,041 (GRCm39) missense possibly damaging 0.71
R7735:Cfhr4 UTSW 1 139,660,039 (GRCm39) critical splice donor site probably null
R8006:Cfhr4 UTSW 1 139,664,590 (GRCm39) missense probably damaging 1.00
R8045:Cfhr4 UTSW 1 139,661,243 (GRCm39) missense probably damaging 0.99
R8188:Cfhr4 UTSW 1 139,625,868 (GRCm39) missense probably damaging 1.00
R8339:Cfhr4 UTSW 1 139,660,157 (GRCm39) missense probably damaging 1.00
R9156:Cfhr4 UTSW 1 139,660,085 (GRCm39) missense probably damaging 0.96
R9339:Cfhr4 UTSW 1 139,682,044 (GRCm39) missense probably benign 0.26
R9520:Cfhr4 UTSW 1 139,682,135 (GRCm39) missense probably damaging 0.99
R9525:Cfhr4 UTSW 1 139,702,250 (GRCm39) missense probably damaging 1.00
R9554:Cfhr4 UTSW 1 139,668,169 (GRCm39) missense probably benign 0.04
R9635:Cfhr4 UTSW 1 139,701,764 (GRCm39) missense probably damaging 1.00
R9669:Cfhr4 UTSW 1 139,708,872 (GRCm39) missense probably damaging 0.96
R9737:Cfhr4 UTSW 1 139,708,872 (GRCm39) missense probably damaging 0.96
X0009:Cfhr4 UTSW 1 139,661,287 (GRCm39) missense probably benign 0.08
X0024:Cfhr4 UTSW 1 139,661,247 (GRCm39) missense probably damaging 1.00
Z1088:Cfhr4 UTSW 1 139,681,999 (GRCm39) missense probably damaging 0.99
Z1176:Cfhr4 UTSW 1 139,661,186 (GRCm39) missense probably damaging 1.00
Z1176:Cfhr4 UTSW 1 139,625,994 (GRCm39) missense probably benign 0.13
Predicted Primers PCR Primer
(F):5'- CATTGGCTTACTGACGCATGG -3'
(R):5'- CTTGGAGTATCAGCCATAACTTG -3'

Sequencing Primer
(F):5'- CTTACTGACGCATGGGACTTCAG -3'
(R):5'- GGAGTATCAGCCATAACTTGATTTC -3'
Posted On 2014-06-30