Incidental Mutation 'R6254:Cfhr4'
ID 505947
Institutional Source Beutler Lab
Gene Symbol Cfhr4
Ensembl Gene ENSMUSG00000070594
Gene Name complement factor H-related 4
Synonyms Gm4788
MMRRC Submission 044371-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R6254 (G1)
Quality Score 204.009
Status Validated
Chromosome 1
Chromosomal Location 139625657-139708977 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 139682128 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 156 (I156T)
Ref Sequence ENSEMBL: ENSMUSP00000107620 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027612] [ENSMUST00000111986] [ENSMUST00000111989]
AlphaFold E9Q8B5
Predicted Effect possibly damaging
Transcript: ENSMUST00000027612
AA Change: I156T

PolyPhen 2 Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000027612
Gene: ENSMUSG00000070594
AA Change: I156T

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 possibly damaging
Transcript: ENSMUST00000111986
AA Change: I156T

PolyPhen 2 Score 0.743 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000107617
Gene: ENSMUSG00000070594
AA Change: I156T

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: I156T

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000107620
Gene: ENSMUSG00000070594
AA Change: I156T

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.4%
Validation Efficiency 100% (82/82)
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6b A T 12: 113,453,190 (GRCm39) L2F probably damaging Het
Ank2 T A 3: 126,735,453 (GRCm39) probably benign Het
Anpep T G 7: 79,488,981 (GRCm39) D369A probably damaging Het
App T C 16: 84,775,065 (GRCm39) E599G probably damaging Het
Asphd1 C T 7: 126,548,040 (GRCm39) V88I probably benign Het
Atad5 A T 11: 80,018,215 (GRCm39) I1389F probably damaging Het
Blm T C 7: 80,130,090 (GRCm39) N950S probably benign Het
Bsn A T 9: 107,989,065 (GRCm39) M2229K probably damaging Het
Cacna2d2 A G 9: 107,386,415 (GRCm39) M181V probably benign Het
Cadps2 T A 6: 23,329,162 (GRCm39) probably null Het
Cdh1 T A 8: 107,390,430 (GRCm39) V590D probably damaging Het
Cdk5rap2 G A 4: 70,282,269 (GRCm39) T160M probably damaging Het
Cfap97d2 A G 8: 13,756,043 (GRCm39) D26G possibly damaging Het
Chrna5 A G 9: 54,913,740 (GRCm39) M325V probably benign Het
Clca3a2 A G 3: 144,507,895 (GRCm39) I116T probably benign Het
Cyp2c23 T C 19: 43,993,902 (GRCm39) K488R probably benign Het
Edil3 T A 13: 89,467,848 (GRCm39) I451N probably damaging Het
Exph5 T G 9: 53,284,010 (GRCm39) S364A possibly damaging Het
Fam98c A G 7: 28,853,942 (GRCm39) S209P probably damaging Het
Fat3 G A 9: 15,907,441 (GRCm39) L2854F probably benign Het
Fbxo38 T C 18: 62,638,571 (GRCm39) probably null Het
Fermt2 T C 14: 45,713,516 (GRCm39) D205G probably damaging Het
Fmnl1 G A 11: 103,087,141 (GRCm39) probably benign Het
Fn3k A G 11: 121,325,894 (GRCm39) E27G probably damaging Het
Foxj2 A G 6: 122,815,098 (GRCm39) H378R probably damaging Het
Fubp1 A G 3: 151,938,045 (GRCm39) K140E possibly damaging Het
Gm7694 A T 1: 170,130,103 (GRCm39) C98* probably null Het
Golgb1 T C 16: 36,734,340 (GRCm39) S1196P probably damaging Het
Gpm6a G A 8: 55,500,431 (GRCm39) probably null Het
Hltf T A 3: 20,117,993 (GRCm39) N80K possibly damaging Het
Il1rap G A 16: 26,514,020 (GRCm39) R251H probably benign Het
Ipo7 T A 7: 109,648,267 (GRCm39) D688E probably benign Het
Itgal T A 7: 126,924,375 (GRCm39) N897K probably damaging Het
Itsn2 A G 12: 4,674,982 (GRCm39) probably null Het
Kcnk13 A G 12: 99,931,631 (GRCm39) probably benign Het
Kdm7a A G 6: 39,147,203 (GRCm39) L248P probably damaging Het
Kmt2c T C 5: 25,554,872 (GRCm39) E1254G possibly damaging Het
Ldah G A 12: 8,325,912 (GRCm39) probably benign Het
Lingo1 T A 9: 56,527,371 (GRCm39) D406V possibly damaging Het
Lratd2 A G 15: 60,695,650 (GRCm39) I32T probably damaging Het
Lrriq1 A T 10: 103,051,312 (GRCm39) V480E probably benign Het
Mtcl1 C T 17: 66,665,129 (GRCm39) R1142H probably benign Het
Mtmr3 G A 11: 4,447,381 (GRCm39) Q360* probably null Het
Muc6 T C 7: 141,237,380 (GRCm39) N252S probably benign Het
Naa20 T C 2: 145,745,240 (GRCm39) L4P probably damaging Het
Neb T A 2: 52,112,973 (GRCm39) I4274L probably benign Het
Noa1 A T 5: 77,457,516 (GRCm39) F130I probably benign Het
Nrg4 G T 9: 55,143,796 (GRCm39) H87N possibly damaging Het
Or51ai2 T A 7: 103,586,741 (GRCm39) H51Q probably benign Het
Or5m12 T A 2: 85,734,849 (GRCm39) Y183F probably damaging Het
P3h3 C T 6: 124,822,564 (GRCm39) E536K probably damaging Het
Pcdhb11 T C 18: 37,554,771 (GRCm39) S34P probably damaging Het
Pik3r1 T C 13: 101,825,914 (GRCm39) T71A possibly damaging Het
Plaur T A 7: 24,166,225 (GRCm39) C99S possibly damaging Het
Plekha5 G A 6: 140,532,162 (GRCm39) G501E probably damaging Het
Plxnd1 C T 6: 115,954,921 (GRCm39) V614M probably benign Het
Ppp2r3d T C 9: 101,025,786 (GRCm39) D307G possibly damaging Het
Prl3d3 C T 13: 27,341,453 (GRCm39) S28F possibly damaging Het
Prpf40a T C 2: 53,047,927 (GRCm39) M197V probably benign Het
Ptk7 C A 17: 46,883,568 (GRCm39) Q832H probably damaging Het
Qser1 T C 2: 104,620,435 (GRCm39) S126G probably benign Het
Rab3ip A T 10: 116,751,772 (GRCm39) C332S probably damaging Het
Raly C A 2: 154,699,286 (GRCm39) T30K probably damaging Het
Rbp2 G T 9: 98,372,700 (GRCm39) S13I probably benign Het
Rps6ka1 C T 4: 133,594,535 (GRCm39) M159I possibly damaging Het
Rufy3 C T 5: 88,732,168 (GRCm39) T57I probably benign Het
Samd4 A G 14: 47,254,088 (GRCm39) D184G probably damaging Het
Slc35f3 T C 8: 127,047,833 (GRCm39) C58R possibly damaging Het
Smarca4 T C 9: 21,611,173 (GRCm39) I1467T probably damaging Het
Spag17 T G 3: 99,972,901 (GRCm39) I1371S probably benign Het
Sptan1 T C 2: 29,897,561 (GRCm39) L1228P possibly damaging Het
Stk31 C T 6: 49,398,631 (GRCm39) A344V probably benign Het
Supt16 A G 14: 52,408,291 (GRCm39) W885R probably damaging Het
Tdrd9 T A 12: 111,992,334 (GRCm39) probably null Het
Tmod1 A G 4: 46,078,469 (GRCm39) probably null Het
Tnfsf13 A C 11: 69,575,309 (GRCm39) probably null Het
Trim75 C A 8: 65,436,094 (GRCm39) E119* probably null Het
Wdr6 T C 9: 108,452,110 (GRCm39) Y591C probably damaging Het
Wdr86 C T 5: 24,923,281 (GRCm39) R137H probably benign Het
Ythdf1 T A 2: 180,552,943 (GRCm39) Y424F probably damaging Het
Zfp984 G T 4: 147,840,643 (GRCm39) S69R possibly damaging Het
Zyg11a A G 4: 108,038,991 (GRCm39) F743L probably damaging 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
R1873:Cfhr4 UTSW 1 139,702,398 (GRCm39) missense probably damaging 0.97
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
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'- GAACGGATATTCTACAATGCAGG -3'
(R):5'- TTGAGTGTTCAGAATCTCAGATGAC -3'

Sequencing Primer
(F):5'- CGGATATTCTACAATGCAGGAATAAG -3'
(R):5'- GTTCAGAATCTCAGATGACTATGATG -3'
Posted On 2018-02-28